Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4548:Utrn'

512077

Institutional Source

Beutler Lab

Gene Symbol

Utrn

Ensembl Gene

ENSMUSG00000019820

Gene Name

utrophin

Synonyms

G-utrophin, Dmdl, DRP

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

FR4548 ()

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

12257932-12745109 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

T to TTCCTGTC at 12509685 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076817] [ENSMUST00000218635]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000076817

SMART Domains

Protein: ENSMUSP00000076093
Gene: ENSMUSG00000019820

Domain	Start	End	E-Value	Type
CH	33	133	1.87e-24	SMART
CH	152	250	4.05e-20	SMART
SPEC	312	416	2.31e-18	SMART
SPEC	421	525	4.18e-16	SMART
SPEC	532	636	3.35e-6	SMART
low complexity region	665	679	N/A	INTRINSIC
SPEC	690	795	1.7e-7	SMART
SPEC	801	901	1e-4	SMART
SPEC	910	1012	8.24e-2	SMART
SPEC	1019	1121	1.32e-4	SMART
SPEC	1128	1229	2.64e-4	SMART
SPEC	1236	1333	4.42e-6	SMART
coiled coil region	1375	1401	N/A	INTRINSIC
SPEC	1438	1540	3.62e-2	SMART
SPEC	1547	1648	7.95e-1	SMART
SPEC	1655	1752	3.56e0	SMART
coiled coil region	1766	1795	N/A	INTRINSIC
SPEC	1870	1972	3.63e0	SMART
SPEC	1979	2080	5.15e-16	SMART
SPEC	2087	2183	3.71e0	SMART
SPEC	2227	2330	4.7e-10	SMART
SPEC	2337	2437	1.02e0	SMART
SPEC	2444	2553	2.35e-10	SMART
SPEC	2560	2685	8.77e-10	SMART
SPEC	2692	2794	4.13e-6	SMART
WW	2811	2843	5.59e-7	SMART
Pfam:EF-hand_2	2844	2962	3.8e-41	PFAM
Pfam:EF-hand_3	2966	3057	1.6e-39	PFAM
ZnF_ZZ	3062	3107	6.33e-17	SMART
coiled coil region	3250	3289	N/A	INTRINSIC
coiled coil region	3310	3354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218635

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have reduced density of acetylcholine receptors and reduced number of junctional folds at neuromuscular junctions. Mice homozygous for utrophin and dystrophin knockouts die prematurely with severe, progressive muscular dystrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 147 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	CTT	CTTTTT	12: 110,634,883 (GRCm39)		probably benign	Het
1700001K19Rik	CTT	CTTTTT	12: 110,634,886 (GRCm39)		probably benign	Het
4930433I11Rik	ACCTC	AC	7: 40,642,480 (GRCm39)		probably benign	Het
Abt1	TTCTTGCT	TT	13: 23,607,881 (GRCm39)		probably benign	Het
Ahdc1	T	TCCC	4: 132,790,071 (GRCm39)		probably benign	Homo
Ahdc1	TCC	TCCCCC	4: 132,790,068 (GRCm39)		probably benign	Homo
AI837181	CGG	CGGGGG	19: 5,475,259 (GRCm39)		probably benign	Het
AI837181	CG	CGGGG	19: 5,475,265 (GRCm39)		probably benign	Het
Anxa2	CCC	CCCTCC	9: 69,387,485 (GRCm39)		probably benign	Het
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Homo
Apc	CCAATAAAG	CCAATAAAGACAATAAAG	18: 34,415,051 (GRCm39)		probably benign	Het
Apol6	T	TGTTA	15: 76,935,645 (GRCm39)		probably null	Homo
Blm	CTAC	CTACTTAC	7: 80,113,517 (GRCm39)		probably null	Homo
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,335,310 (GRCm39)		probably benign	Het
Bud31	C	T	5: 145,083,345 (GRCm39)	R63C	probably benign	Het
C4b	C	T	17: 34,959,971 (GRCm39)	R335H	probably benign	Het
Cacna1a	ACC	ACCCCC	8: 85,365,346 (GRCm39)		probably benign	Het
Cacna1f	AGG	AGGGGG	X: 7,486,297 (GRCm39)		probably benign	Het
Ccdc170	ACC	ACCCCC	10: 4,511,026 (GRCm39)		probably benign	Het
Cckbr	GGGC	G	7: 105,083,888 (GRCm39)		probably benign	Homo
Cd80	GAAA	GAAAAAA	16: 38,306,681 (GRCm39)		probably benign	Homo
Ces1b	T	C	8: 93,794,720 (GRCm39)	N293S	probably null	Homo
Cgnl1	CGC	CGCGGC	9: 71,631,999 (GRCm39)		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,080,398 (GRCm39)		probably benign	Het
Cntnap1	GCC	GCCCCAACC	11: 101,080,420 (GRCm39)		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,080,419 (GRCm39)		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,080,405 (GRCm39)		probably benign	Het
Cracdl	C	A	1: 37,664,117 (GRCm39)	E594*	probably null	Homo
Cracdl	A	G	1: 37,664,183 (GRCm39)	S47P	probably damaging	Homo
Cracdl	T	A	1: 37,664,116 (GRCm39)	E594V	probably benign	Homo
Ctsm	GTGA	GTGAATGA	13: 61,685,651 (GRCm39)		probably null	Homo
Cttnbp2	TGCTGC	TGCTGCCGCTGC	6: 18,367,462 (GRCm39)		probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,465,726 (GRCm39)		probably null	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Homo
Efna4	ATGTGAT	A	3: 89,241,729 (GRCm39)		probably benign	Homo
Eif3a	A	ATTTTT	19: 60,763,729 (GRCm39)		probably benign	Homo
Ermn	TTC	TTCATC	2: 57,938,087 (GRCm39)		probably benign	Het
Ermn	TC	TCTCC	2: 57,938,100 (GRCm39)		probably benign	Het
Fbxo43	GTGCCT	GTGCCTATGCCT	15: 36,152,244 (GRCm39)		probably null	Het
Fscb	A	G	12: 64,519,337 (GRCm39)	S710P	unknown	Het
Fscb	T	A	12: 64,519,339 (GRCm39)	Q709L	unknown	Het
Glod4	A	C	11: 76,134,136 (GRCm39)		probably benign	Homo
Gm14401	A	G	2: 176,778,661 (GRCm39)	D249G	probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,031,934 (GRCm39)		probably benign	Het
Gm4340	AGC	AGCCGC	10: 104,031,931 (GRCm39)		probably benign	Het
Gm8104	T	C	14: 42,967,468 (GRCm39)	S179P	probably damaging	Het
Gm8104	C	T	14: 42,967,466 (GRCm39)	T178I	probably benign	Het
Gpatch11	GGAAGA	GGAAGACGAAGA	17: 79,149,604 (GRCm39)		probably benign	Het
H1f6	GAGAA	GA	13: 23,879,903 (GRCm39)		probably benign	Homo
H2-K2	GTTT	G	17: 34,216,016 (GRCm39)		probably benign	Homo
Hspa1b	GCGCC	GC	17: 35,176,105 (GRCm39)		probably benign	Homo
Ifi211	G	A	1: 173,733,759 (GRCm39)	A134V	possibly damaging	Het
Igf1r	C	CTGGAGATGGAGG	7: 67,875,934 (GRCm39)		probably benign	Het
Igkv9-129	G	A	6: 67,817,018 (GRCm39)	V41I	probably damaging	Het
Ipo9	TCC	TCCCCC	1: 135,314,013 (GRCm39)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Homo
Klra2	AG	AGAAATCCACGG	6: 131,198,814 (GRCm39)		probably null	Het
Kmt2b	CTCC	CTCCTCGTCC	7: 30,285,805 (GRCm39)		probably benign	Het
Kng2	G	A	16: 22,819,302 (GRCm39)	Q245*	probably null	Het
Kri1	CTCCTCTTCCTC	CTCCTC	9: 21,192,346 (GRCm39)		probably benign	Het
Krt10	TCCTCC	TCCTCCCCCTCC	11: 99,280,099 (GRCm39)		probably benign	Het
Krt10	TCCTCCAC	TCCTCCACCTCCAC	11: 99,280,102 (GRCm39)		probably benign	Homo
Las1l	TC	TCTTCCGC	X: 94,984,231 (GRCm39)		probably benign	Het
Las1l	GAG	GAGAAG	X: 94,984,429 (GRCm39)		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,582,462 (GRCm39)		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,582,465 (GRCm39)		probably benign	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,362,622 (GRCm39)		probably benign	Homo
Luzp1	CTCTTCAGA	CTCTTCAGAGGTGGCATCTTCAGA	4: 136,270,499 (GRCm39)		probably benign	Homo
Mast4	CA	CAGTGGGA	13: 102,872,826 (GRCm39)		probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,183,403 (GRCm39)		probably benign	Het
Mn1	GCA	GCACCA	5: 111,567,564 (GRCm39)		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCCGGCAGTGAG	19: 42,064,548 (GRCm39)		probably benign	Het
Msantd4	A	T	9: 4,384,937 (GRCm39)	I221F	possibly damaging	Homo
Mup21	TATACTT	TATACTTTTTAAATACTT	4: 62,067,582 (GRCm39)		probably benign	Het
Mup21	ATACTT	ATACTTTTTATCTACTT	4: 62,067,583 (GRCm39)		probably benign	Het
Nacad	AGGGTC	AGGGTCGGGGTC	11: 6,549,752 (GRCm39)		probably benign	Het
Nacad	GG	GGCCAGTG	11: 6,549,760 (GRCm39)		probably benign	Het
Ncapd2	CTT	CTTGGTT	6: 125,150,559 (GRCm39)		probably benign	Homo
Nelfe	GACCGGGATCGAGACAGAGAC	GACCGGGATCGAGACAGAGACAAAGACCGGGATCGAGACAGAGAC	17: 35,073,046 (GRCm39)		probably benign	Homo
Nfxl1	CCGGGG	CCGGGGTCGGGG	5: 72,716,458 (GRCm39)		probably benign	Het
Nkx2-6	C	T	14: 69,412,678 (GRCm39)	T282M	probably damaging	Homo
Noc2l	AGGC	AGGCGGC	4: 156,324,549 (GRCm39)		probably benign	Homo
Noc2l	GC	GCTTC	4: 156,324,557 (GRCm39)		probably benign	Het
Nphp3	CACG	C	9: 103,903,138 (GRCm39)		probably benign	Het
Nrg3	TTG	TTGACACTG	14: 38,119,228 (GRCm39)		probably benign	Homo
Or2ak5	T	G	11: 58,611,197 (GRCm39)	I226L	probably benign	Het
Or51f1e	T	TTAG	7: 102,747,516 (GRCm39)		probably null	Homo
Or51v8	G	GAAC	7: 103,320,174 (GRCm39)		probably null	Homo
Or51v8	CAAA	CAAAAAA	7: 103,320,167 (GRCm39)		probably benign	Homo
Or5af2	T	A	11: 58,708,266 (GRCm39)	V144D	possibly damaging	Homo
Osmr	CTC	CTCTTC	15: 6,867,184 (GRCm39)		probably benign	Homo
Patl2	GCT	GCTCCT	2: 121,956,616 (GRCm39)		probably benign	Het
Pdik1l	ACCAC	ACCACCGCCAC	4: 134,006,823 (GRCm39)		probably benign	Homo
Phldb3	GACCC	G	7: 24,328,403 (GRCm39)		probably null	Het
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,270,384 (GRCm39)		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,703,881 (GRCm39)		probably benign	Homo
Polr1g	GGATG	GG	7: 19,091,169 (GRCm39)		probably benign	Homo
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Homo
Prag1	GC	GCAAC	8: 36,571,039 (GRCm39)		probably benign	Homo
Prr13	TCC	TCCGCC	15: 102,370,609 (GRCm39)		probably benign	Het
Prtg	GTAAC	G	9: 72,764,363 (GRCm39)		probably benign	Homo
Ptk2b	C	T	14: 66,411,298 (GRCm39)	R411Q	possibly damaging	Het
Ptms	TTC	TTCGTC	6: 124,891,419 (GRCm39)		probably benign	Het
Ptpn23	G	T	9: 110,216,701 (GRCm39)	P1052T	probably benign	Homo
Rbm33	AGCAGCCGCAGC	AGCAGC	5: 28,599,199 (GRCm39)		probably benign	Het
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,384,479 (GRCm39)		probably benign	Homo
Setd1a	TGGTAGTGG	TGGTAGTGGCGGTAGTGG	7: 127,384,485 (GRCm39)		probably benign	Homo
Sfswap	CCACTCAGC	CCACTCAGCGCACTCAGC	5: 129,646,813 (GRCm39)		probably benign	Het
Sfswap	AGCCCACTCGGCC	AGCCCACTCGGCCCACTCGGCC	5: 129,646,819 (GRCm39)		probably benign	Homo
Sh3pxd2b	GT	GTGTCTCT	11: 32,373,064 (GRCm39)		probably benign	Homo
Sh3pxd2b	T	TGTCTTG	11: 32,373,065 (GRCm39)		probably benign	Het
Shroom4	GCAGCAACA	GCA	X: 6,536,128 (GRCm39)		probably benign	Het
Six3	GGC	GGCCGC	17: 85,928,791 (GRCm39)		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACCCC	2: 124,996,134 (GRCm39)		probably benign	Homo
Spaca1	GC	GCTCTCTC	4: 34,049,856 (GRCm39)		probably benign	Het
Spag17	AGG	AGGCGG	3: 99,963,570 (GRCm39)		probably benign	Het
Spata31h1	G	GTCATTA	10: 82,126,830 (GRCm39)		probably benign	Homo
Srebf2	G	T	15: 82,069,536 (GRCm39)	A693S	probably damaging	Homo
Supt20	CA	CAGCAGAA	3: 54,635,094 (GRCm39)		probably benign	Het
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,635,078 (GRCm39)		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,635,085 (GRCm39)		probably benign	Het
Syne1	C	A	10: 4,982,969 (GRCm39)	S8652I	probably benign	Homo
Tob1	GCA	GCAACA	11: 94,105,281 (GRCm39)		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,105,295 (GRCm39)		probably benign	Het
Tomm5	CTTCCGC	CTTCCGCATTTTCCGC	4: 45,107,977 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	G	GAAA	14: 53,887,214 (GRCm39)		probably benign	Het
Triobp	TCG	TCGCCG	15: 78,877,590 (GRCm39)		probably benign	Homo
Triobp	TCG	TCGGCG	15: 78,877,587 (GRCm39)		probably benign	Het
Tsbp1	GCA	GCATCA	17: 34,679,039 (GRCm39)		probably benign	Het
Tsen2	GAG	GAGAAG	6: 115,537,029 (GRCm39)		probably benign	Het
Ttf2	TC	TCCGC	3: 100,870,476 (GRCm39)		probably benign	Homo
Tusc1	CGCCAC	CGCCACTGCCAC	4: 93,223,540 (GRCm39)		probably benign	Het
Ubtf	CTC	CTCATC	11: 102,197,784 (GRCm39)		probably benign	Het
Vars1	TGG	TGGAGTCCTGGGGGG	17: 35,234,965 (GRCm39)		probably benign	Homo
Vars1	G	GAGTCCTGGGTGC	17: 35,234,967 (GRCm39)		probably benign	Het
Vmn2r99	G	A	17: 19,614,547 (GRCm39)	G756R	probably damaging	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Homo
Zc3h13	TGCG	TGCGTGATGAGCG	14: 75,561,039 (GRCm39)		probably benign	Het
Zdhhc16	CACA	CACAACAGGGAAAGCAGTCTGTCAACA	19: 41,930,607 (GRCm39)		probably null	Het
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Homo
Zfp335	TCC	TCCCCC	2: 164,749,392 (GRCm39)		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,899,749 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,899,750 (GRCm39)		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,910,188 (GRCm39)		probably null	Het
Zfp986	G	T	4: 145,625,928 (GRCm39)	R196I	probably benign	Het
Zfp992	G	T	4: 146,550,464 (GRCm39)	E62*	probably null	Het

Other mutations in Utrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Utrn	APN	10	12,547,574 (GRCm39)	missense	probably damaging	1.00
IGL00469:Utrn	APN	10	12,282,273 (GRCm39)	missense	probably damaging	1.00
IGL00518:Utrn	APN	10	12,542,587 (GRCm39)	splice site	probably benign
IGL00560:Utrn	APN	10	12,331,211 (GRCm39)	nonsense	probably null
IGL00589:Utrn	APN	10	12,554,362 (GRCm39)	missense	possibly damaging	0.53
IGL00662:Utrn	APN	10	12,540,705 (GRCm39)	missense	probably damaging	0.99
IGL00754:Utrn	APN	10	12,539,236 (GRCm39)	missense	probably benign	0.05
IGL00772:Utrn	APN	10	12,524,929 (GRCm39)	missense	probably benign
IGL00775:Utrn	APN	10	12,620,974 (GRCm39)	critical splice donor site	probably null
IGL00782:Utrn	APN	10	12,528,555 (GRCm39)	missense	probably benign	0.13
IGL00962:Utrn	APN	10	12,357,078 (GRCm39)	missense	possibly damaging	0.80
IGL01584:Utrn	APN	10	12,602,111 (GRCm39)	missense	probably benign	0.01
IGL01677:Utrn	APN	10	12,619,901 (GRCm39)	missense	probably damaging	1.00
IGL01695:Utrn	APN	10	12,621,086 (GRCm39)	missense	probably benign	0.00
IGL01743:Utrn	APN	10	12,587,301 (GRCm39)	missense	possibly damaging	0.94
IGL01815:Utrn	APN	10	12,528,460 (GRCm39)	missense	probably benign	0.00
IGL01901:Utrn	APN	10	12,516,672 (GRCm39)	missense	probably damaging	1.00
IGL01982:Utrn	APN	10	12,623,773 (GRCm39)	missense	probably damaging	1.00
IGL01983:Utrn	APN	10	12,545,525 (GRCm39)	missense	probably benign	0.18
IGL02031:Utrn	APN	10	12,610,948 (GRCm39)	missense	probably damaging	1.00
IGL02106:Utrn	APN	10	12,289,717 (GRCm39)	missense	possibly damaging	0.92
IGL02134:Utrn	APN	10	12,519,163 (GRCm39)	missense	probably damaging	0.99
IGL02209:Utrn	APN	10	12,559,039 (GRCm39)	missense	probably damaging	0.97
IGL02217:Utrn	APN	10	12,627,303 (GRCm39)	missense	probably damaging	1.00
IGL02250:Utrn	APN	10	12,312,135 (GRCm39)	missense	probably damaging	1.00
IGL02307:Utrn	APN	10	12,625,809 (GRCm39)	nonsense	probably null
IGL02386:Utrn	APN	10	12,297,352 (GRCm39)	missense	possibly damaging	0.91
IGL02494:Utrn	APN	10	12,585,798 (GRCm39)	missense	probably benign
IGL02631:Utrn	APN	10	12,585,807 (GRCm39)	missense	probably benign	0.00
IGL02729:Utrn	APN	10	12,596,554 (GRCm39)	unclassified	probably benign
IGL02736:Utrn	APN	10	12,297,384 (GRCm39)	missense	probably damaging	1.00
IGL02832:Utrn	APN	10	12,613,937 (GRCm39)	missense	possibly damaging	0.82
IGL02926:Utrn	APN	10	12,566,504 (GRCm39)	missense	probably damaging	0.96
IGL03184:Utrn	APN	10	12,585,910 (GRCm39)	missense	probably benign	0.04
IGL03194:Utrn	APN	10	12,282,173 (GRCm39)	splice site	probably benign
IGL03346:Utrn	APN	10	12,401,096 (GRCm39)	missense	probably benign	0.22
retiring	UTSW	10	12,516,764 (GRCm39)	missense	probably damaging	1.00
shrinking_violet	UTSW	10	12,587,329 (GRCm39)	critical splice acceptor site	probably null
Wallflower	UTSW	10	12,623,719 (GRCm39)	missense	probably damaging	1.00
I2288:Utrn	UTSW	10	12,297,384 (GRCm39)	missense	probably damaging	1.00
PIT4677001:Utrn	UTSW	10	12,542,448 (GRCm39)	missense	probably benign	0.06
R0022:Utrn	UTSW	10	12,585,700 (GRCm39)	splice site	probably benign
R0024:Utrn	UTSW	10	12,281,755 (GRCm39)	missense	probably benign	0.00
R0024:Utrn	UTSW	10	12,281,755 (GRCm39)	missense	probably benign	0.00
R0026:Utrn	UTSW	10	12,601,940 (GRCm39)	splice site	probably benign
R0026:Utrn	UTSW	10	12,601,940 (GRCm39)	splice site	probably benign
R0091:Utrn	UTSW	10	12,610,948 (GRCm39)	missense	probably damaging	1.00
R0112:Utrn	UTSW	10	12,562,209 (GRCm39)	nonsense	probably null
R0126:Utrn	UTSW	10	12,587,219 (GRCm39)	missense	probably benign	0.02
R0184:Utrn	UTSW	10	12,543,362 (GRCm39)	missense	probably benign
R0219:Utrn	UTSW	10	12,560,195 (GRCm39)	missense	probably damaging	1.00
R0369:Utrn	UTSW	10	12,509,766 (GRCm39)	missense	probably benign	0.37
R0390:Utrn	UTSW	10	12,585,804 (GRCm39)	missense	probably benign	0.05
R0391:Utrn	UTSW	10	12,401,077 (GRCm39)	splice site	probably benign
R0408:Utrn	UTSW	10	12,259,934 (GRCm39)	makesense	probably null
R0409:Utrn	UTSW	10	12,519,345 (GRCm39)	missense	probably benign	0.01
R0441:Utrn	UTSW	10	12,564,038 (GRCm39)	missense	probably null	0.88
R0504:Utrn	UTSW	10	12,278,639 (GRCm39)	missense	probably benign	0.02
R0730:Utrn	UTSW	10	12,573,902 (GRCm39)	splice site	probably benign
R1078:Utrn	UTSW	10	12,331,310 (GRCm39)	critical splice acceptor site	probably null
R1171:Utrn	UTSW	10	12,357,052 (GRCm39)	missense	probably damaging	0.99
R1191:Utrn	UTSW	10	12,509,777 (GRCm39)	missense	probably benign	0.02
R1203:Utrn	UTSW	10	12,362,281 (GRCm39)	missense	probably damaging	1.00
R1401:Utrn	UTSW	10	12,524,897 (GRCm39)	missense	probably benign
R1418:Utrn	UTSW	10	12,589,094 (GRCm39)	missense	probably benign
R1439:Utrn	UTSW	10	12,619,793 (GRCm39)	missense	possibly damaging	0.79
R1441:Utrn	UTSW	10	12,559,039 (GRCm39)	missense	probably damaging	0.97
R1445:Utrn	UTSW	10	12,554,318 (GRCm39)	splice site	probably benign
R1509:Utrn	UTSW	10	12,331,185 (GRCm39)	missense	possibly damaging	0.91
R1546:Utrn	UTSW	10	12,312,108 (GRCm39)	missense	probably damaging	1.00
R1585:Utrn	UTSW	10	12,312,029 (GRCm39)	missense	possibly damaging	0.62
R1621:Utrn	UTSW	10	12,589,027 (GRCm39)	missense	probably benign	0.24
R1637:Utrn	UTSW	10	12,312,108 (GRCm39)	missense	probably damaging	1.00
R1703:Utrn	UTSW	10	12,603,473 (GRCm39)	splice site	probably benign
R1725:Utrn	UTSW	10	12,539,263 (GRCm39)	missense	probably damaging	0.99
R1735:Utrn	UTSW	10	12,585,882 (GRCm39)	missense	probably benign
R1770:Utrn	UTSW	10	12,351,040 (GRCm39)	missense	probably damaging	0.98
R1778:Utrn	UTSW	10	12,312,108 (GRCm39)	missense	probably damaging	1.00
R1783:Utrn	UTSW	10	12,339,083 (GRCm39)	missense	probably damaging	1.00
R1818:Utrn	UTSW	10	12,585,708 (GRCm39)	critical splice donor site	probably null
R1829:Utrn	UTSW	10	12,351,018 (GRCm39)	missense	probably damaging	1.00
R1919:Utrn	UTSW	10	12,331,224 (GRCm39)	missense	probably benign	0.15
R1964:Utrn	UTSW	10	12,560,181 (GRCm39)	missense	probably damaging	1.00
R2080:Utrn	UTSW	10	12,612,826 (GRCm39)	missense	probably benign	0.36
R2092:Utrn	UTSW	10	12,554,442 (GRCm39)	missense	probably benign	0.12
R2107:Utrn	UTSW	10	12,312,108 (GRCm39)	missense	probably damaging	1.00
R2108:Utrn	UTSW	10	12,312,108 (GRCm39)	missense	probably damaging	1.00
R2760:Utrn	UTSW	10	12,566,622 (GRCm39)	missense	probably damaging	1.00
R2884:Utrn	UTSW	10	12,615,105 (GRCm39)	splice site	probably null
R2885:Utrn	UTSW	10	12,615,105 (GRCm39)	splice site	probably null
R2886:Utrn	UTSW	10	12,615,105 (GRCm39)	splice site	probably null
R2903:Utrn	UTSW	10	12,519,172 (GRCm39)	missense	probably damaging	1.00
R2944:Utrn	UTSW	10	12,519,163 (GRCm39)	missense	probably damaging	1.00
R2945:Utrn	UTSW	10	12,362,135 (GRCm39)	missense	possibly damaging	0.50
R3438:Utrn	UTSW	10	12,357,062 (GRCm39)	missense	probably damaging	0.98
R3683:Utrn	UTSW	10	12,542,579 (GRCm39)	missense	probably benign	0.10
R3735:Utrn	UTSW	10	12,354,228 (GRCm39)	missense	probably damaging	1.00
R3907:Utrn	UTSW	10	12,585,926 (GRCm39)	splice site	probably benign
R3923:Utrn	UTSW	10	12,615,223 (GRCm39)	missense	probably benign	0.23
R3925:Utrn	UTSW	10	12,573,786 (GRCm39)	missense	probably benign
R3926:Utrn	UTSW	10	12,573,786 (GRCm39)	missense	probably benign
R3938:Utrn	UTSW	10	12,625,774 (GRCm39)	critical splice donor site	probably null
R3941:Utrn	UTSW	10	12,587,329 (GRCm39)	critical splice acceptor site	probably null
R3958:Utrn	UTSW	10	12,625,852 (GRCm39)	missense	probably damaging	1.00
R4091:Utrn	UTSW	10	12,585,915 (GRCm39)	missense	probably benign	0.10
R4454:Utrn	UTSW	10	12,603,584 (GRCm39)	missense	possibly damaging	0.81
R4585:Utrn	UTSW	10	12,564,050 (GRCm39)	missense	probably benign	0.01
R4667:Utrn	UTSW	10	12,573,797 (GRCm39)	missense	probably benign	0.22
R4684:Utrn	UTSW	10	12,620,984 (GRCm39)	missense	probably damaging	1.00
R4782:Utrn	UTSW	10	12,625,813 (GRCm39)	missense	probably damaging	1.00
R4785:Utrn	UTSW	10	12,530,489 (GRCm39)	missense	probably benign	0.39
R4799:Utrn	UTSW	10	12,625,813 (GRCm39)	missense	probably damaging	1.00
R4829:Utrn	UTSW	10	12,539,205 (GRCm39)	missense	probably benign	0.00
R4878:Utrn	UTSW	10	12,603,502 (GRCm39)	missense	probably damaging	1.00
R4955:Utrn	UTSW	10	12,737,311 (GRCm39)	critical splice donor site	probably null
R4967:Utrn	UTSW	10	12,331,164 (GRCm39)	missense	probably damaging	0.99
R5071:Utrn	UTSW	10	12,259,948 (GRCm39)	splice site	probably null
R5072:Utrn	UTSW	10	12,259,948 (GRCm39)	splice site	probably null
R5186:Utrn	UTSW	10	12,604,521 (GRCm39)	missense	probably damaging	1.00
R5213:Utrn	UTSW	10	12,512,504 (GRCm39)	missense	probably damaging	1.00
R5296:Utrn	UTSW	10	12,277,099 (GRCm39)	missense	probably damaging	1.00
R5309:Utrn	UTSW	10	12,603,513 (GRCm39)	missense	probably damaging	1.00
R5312:Utrn	UTSW	10	12,603,513 (GRCm39)	missense	probably damaging	1.00
R5399:Utrn	UTSW	10	12,516,727 (GRCm39)	missense	probably damaging	1.00
R5407:Utrn	UTSW	10	12,556,369 (GRCm39)	missense	probably damaging	1.00
R5411:Utrn	UTSW	10	12,524,929 (GRCm39)	missense	probably benign
R5428:Utrn	UTSW	10	12,569,175 (GRCm39)	missense	probably benign	0.09
R5595:Utrn	UTSW	10	12,558,062 (GRCm39)	missense	possibly damaging	0.89
R5602:Utrn	UTSW	10	12,625,839 (GRCm39)	missense	probably damaging	1.00
R5608:Utrn	UTSW	10	12,547,581 (GRCm39)	missense	probably benign	0.00
R5678:Utrn	UTSW	10	12,317,762 (GRCm39)	missense	probably damaging	1.00
R5726:Utrn	UTSW	10	12,545,550 (GRCm39)	missense	probably benign
R5804:Utrn	UTSW	10	12,297,369 (GRCm39)	missense	probably damaging	1.00
R5916:Utrn	UTSW	10	12,540,795 (GRCm39)	missense	probably damaging	0.97
R5941:Utrn	UTSW	10	12,362,227 (GRCm39)	missense	probably damaging	1.00
R6014:Utrn	UTSW	10	12,566,620 (GRCm39)	missense	probably benign	0.01
R6015:Utrn	UTSW	10	12,354,168 (GRCm39)	missense	possibly damaging	0.85
R6028:Utrn	UTSW	10	12,530,460 (GRCm39)	missense	probably benign	0.00
R6158:Utrn	UTSW	10	12,566,566 (GRCm39)	missense	probably benign	0.04
R6181:Utrn	UTSW	10	12,615,200 (GRCm39)	missense	probably damaging	1.00
R6300:Utrn	UTSW	10	12,377,220 (GRCm39)	missense	probably benign	0.35
R6367:Utrn	UTSW	10	12,623,719 (GRCm39)	missense	probably damaging	1.00
R6377:Utrn	UTSW	10	12,619,827 (GRCm39)	missense	probably damaging	1.00
R6434:Utrn	UTSW	10	12,401,171 (GRCm39)	missense	probably damaging	1.00
R6498:Utrn	UTSW	10	12,317,837 (GRCm39)	missense	probably benign
R6579:Utrn	UTSW	10	12,623,750 (GRCm39)	missense	probably benign	0.05
R6704:Utrn	UTSW	10	12,621,035 (GRCm39)	missense	probably damaging	0.99
R6736:Utrn	UTSW	10	12,497,047 (GRCm39)	missense	probably benign	0.09
R6755:Utrn	UTSW	10	12,574,831 (GRCm39)	missense	probably benign	0.00
R6793:Utrn	UTSW	10	12,574,844 (GRCm39)	missense	possibly damaging	0.69
R6793:Utrn	UTSW	10	12,516,669 (GRCm39)	critical splice donor site	probably null
R6835:Utrn	UTSW	10	12,603,508 (GRCm39)	missense	probably damaging	1.00
R6919:Utrn	UTSW	10	12,569,214 (GRCm39)	nonsense	probably null
R6920:Utrn	UTSW	10	12,626,214 (GRCm39)	missense	probably damaging	0.98
R7037:Utrn	UTSW	10	12,702,514 (GRCm39)	splice site	probably null
R7038:Utrn	UTSW	10	12,558,082 (GRCm39)	missense	probably damaging	1.00
R7055:Utrn	UTSW	10	12,623,665 (GRCm39)	missense	probably benign	0.23
R7072:Utrn	UTSW	10	12,340,957 (GRCm39)	missense	probably damaging	1.00
R7090:Utrn	UTSW	10	12,560,260 (GRCm39)	missense	possibly damaging	0.58
R7211:Utrn	UTSW	10	12,277,079 (GRCm39)	missense	possibly damaging	0.72
R7248:Utrn	UTSW	10	12,604,562 (GRCm39)	missense	possibly damaging	0.51
R7305:Utrn	UTSW	10	12,261,280 (GRCm39)	missense	probably benign
R7334:Utrn	UTSW	10	12,603,753 (GRCm39)	splice site	probably null
R7348:Utrn	UTSW	10	12,623,762 (GRCm39)	missense	probably damaging	1.00
R7375:Utrn	UTSW	10	12,516,764 (GRCm39)	missense	probably damaging	1.00
R7436:Utrn	UTSW	10	12,315,535 (GRCm39)	missense	possibly damaging	0.72
R7476:Utrn	UTSW	10	12,516,695 (GRCm39)	missense	probably benign
R7514:Utrn	UTSW	10	12,573,833 (GRCm39)	missense	probably benign	0.00
R7527:Utrn	UTSW	10	12,277,126 (GRCm39)	missense	possibly damaging	0.81
R7735:Utrn	UTSW	10	12,619,787 (GRCm39)	critical splice donor site	probably null
R7748:Utrn	UTSW	10	12,490,252 (GRCm39)	missense	probably benign	0.01
R7778:Utrn	UTSW	10	12,362,354 (GRCm39)	missense	probably damaging	1.00
R7824:Utrn	UTSW	10	12,362,354 (GRCm39)	missense	probably damaging	1.00
R7826:Utrn	UTSW	10	12,277,050 (GRCm39)	splice site	probably null
R7872:Utrn	UTSW	10	12,573,873 (GRCm39)	missense	probably benign
R7915:Utrn	UTSW	10	12,340,956 (GRCm39)	missense	probably damaging	1.00
R7922:Utrn	UTSW	10	12,543,271 (GRCm39)	missense	possibly damaging	0.68
R8081:Utrn	UTSW	10	12,423,803 (GRCm39)	start gained	probably benign
R8132:Utrn	UTSW	10	12,558,154 (GRCm39)	missense	probably damaging	0.99
R8167:Utrn	UTSW	10	12,547,558 (GRCm39)	nonsense	probably null
R8186:Utrn	UTSW	10	12,573,867 (GRCm39)	missense	probably benign
R8331:Utrn	UTSW	10	12,490,363 (GRCm39)	missense	probably benign	0.00
R8352:Utrn	UTSW	10	12,689,253 (GRCm39)	missense	probably benign	0.34
R8408:Utrn	UTSW	10	12,545,887 (GRCm39)	missense	possibly damaging	0.69
R8452:Utrn	UTSW	10	12,689,253 (GRCm39)	missense	probably benign	0.34
R8478:Utrn	UTSW	10	12,524,892 (GRCm39)	missense	probably benign
R8489:Utrn	UTSW	10	12,587,190 (GRCm39)	missense	probably benign	0.05
R8516:Utrn	UTSW	10	12,362,254 (GRCm39)	missense	probably damaging	0.99
R8520:Utrn	UTSW	10	12,545,930 (GRCm39)	nonsense	probably null
R8550:Utrn	UTSW	10	12,689,329 (GRCm39)	intron	probably benign
R8856:Utrn	UTSW	10	12,543,351 (GRCm39)	missense	probably benign
R8881:Utrn	UTSW	10	12,423,737 (GRCm39)	missense	possibly damaging	0.46
R9180:Utrn	UTSW	10	12,545,463 (GRCm39)	missense	probably damaging	1.00
R9186:Utrn	UTSW	10	12,490,318 (GRCm39)	missense	probably benign
R9216:Utrn	UTSW	10	12,689,229 (GRCm39)	missense	probably benign	0.19
R9251:Utrn	UTSW	10	12,512,531 (GRCm39)	missense	probably benign	0.01
R9273:Utrn	UTSW	10	12,509,707 (GRCm39)	missense	probably damaging	0.97
R9307:Utrn	UTSW	10	12,554,475 (GRCm39)	missense	probably benign	0.02
R9344:Utrn	UTSW	10	12,560,275 (GRCm39)	missense	probably benign	0.17
R9419:Utrn	UTSW	10	12,564,125 (GRCm39)	missense	probably damaging	1.00
R9435:Utrn	UTSW	10	12,519,173 (GRCm39)	missense	probably damaging	1.00
R9623:Utrn	UTSW	10	12,282,225 (GRCm39)	missense	probably damaging	1.00
R9650:Utrn	UTSW	10	12,613,929 (GRCm39)	missense	probably benign	0.00
R9653:Utrn	UTSW	10	12,539,189 (GRCm39)	missense	probably benign	0.41
R9653:Utrn	UTSW	10	12,497,123 (GRCm39)	missense	probably benign	0.17
R9672:Utrn	UTSW	10	12,603,613 (GRCm39)	missense	possibly damaging	0.68
R9678:Utrn	UTSW	10	12,615,159 (GRCm39)	missense	probably benign	0.00
R9741:Utrn	UTSW	10	12,702,564 (GRCm39)	missense	probably benign
R9765:Utrn	UTSW	10	12,610,921 (GRCm39)	missense	probably damaging	0.99
R9799:Utrn	UTSW	10	12,585,736 (GRCm39)	missense	probably benign	0.01
RF009:Utrn	UTSW	10	12,509,689 (GRCm39)	nonsense	probably null
V1662:Utrn	UTSW	10	12,297,384 (GRCm39)	missense	probably damaging	1.00
X0018:Utrn	UTSW	10	12,610,942 (GRCm39)	missense	probably damaging	1.00
Z1176:Utrn	UTSW	10	12,564,173 (GRCm39)	critical splice acceptor site	probably null
Z1176:Utrn	UTSW	10	12,558,104 (GRCm39)	nonsense	probably null
Z1177:Utrn	UTSW	10	12,497,123 (GRCm39)	missense	probably benign	0.17
Z1177:Utrn	UTSW	10	12,401,150 (GRCm39)	nonsense	probably null
Z1186:Utrn	UTSW	10	12,545,491 (GRCm39)	missense	probably damaging	1.00
Z1189:Utrn	UTSW	10	12,545,491 (GRCm39)	missense	probably damaging	1.00
Z1191:Utrn	UTSW	10	12,545,491 (GRCm39)	missense	probably damaging	1.00
Z1192:Utrn	UTSW	10	12,545,491 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTGCTCTCAGAGAACTACAAAATG -3'
(R):5'- AGTTACTGAGTGACCAGTTCTAAC -3'

Sequencing Primer
(F):5'- CACTCTGCACAAAATATACTGA -3'
(R):5'- ACTGTGTTTCAATTTACACCTTAGC -3'

Posted On

2018-04-05