Mutagenetix > Incidental Mutation

Incidental Mutation 'R4967:Utrn'

384131

Institutional Source

Beutler Lab

Gene Symbol

Utrn

Ensembl Gene

ENSMUSG00000019820

Gene Name

utrophin

Synonyms

G-utrophin, Dmdl, DRP

MMRRC Submission

042563-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4967 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12257932-12745109 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12331164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2924 (V2924A)

Ref Sequence

ENSEMBL: ENSMUSP00000151431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076817] [ENSMUST00000217994] [ENSMUST00000218635] [ENSMUST00000219003]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000076817
AA Change: V2924A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076093
Gene: ENSMUSG00000019820
AA Change: V2924A

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 damaging
Transcript: ENSMUST00000217994
AA Change: V481A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218635
AA Change: V2924A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219003
AA Change: V450A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Meta Mutation Damage Score

0.6737

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (102/102)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,956,502 (GRCm39)	Y199*	probably null	Het
Adhfe1	A	T	1: 9,637,029 (GRCm39)	I394F	probably benign	Het
Arhgap26	G	T	18: 39,379,893 (GRCm39)	R485L	probably damaging	Het
Atat1	T	A	17: 36,212,467 (GRCm39)	N231I	probably damaging	Het
B4galnt2	T	C	11: 95,760,100 (GRCm39)	N309S	probably benign	Het
Bank1	A	T	3: 135,772,134 (GRCm39)	F499I	probably damaging	Het
Bcl9l	A	G	9: 44,416,365 (GRCm39)	D146G	possibly damaging	Het
Bglap3	A	T	3: 88,283,671 (GRCm39)		probably benign	Het
Bscl2	C	A	19: 8,825,344 (GRCm39)	T376K	probably benign	Het
Cercam	A	T	2: 29,761,033 (GRCm39)		probably null	Het
Clec4f	C	T	6: 83,633,012 (GRCm39)	M1I	probably null	Het
Clec4n	A	T	6: 123,209,066 (GRCm39)	I14F	probably benign	Het
Cmya5	T	C	13: 93,227,093 (GRCm39)	E2665G	probably damaging	Het
Cog4	T	A	8: 111,578,915 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,352,856 (GRCm39)	F1961L	probably benign	Het
Cyp4a29	A	T	4: 115,104,196 (GRCm39)	H88L	probably benign	Het
Dhdh	A	G	7: 45,128,530 (GRCm39)	L216P	probably damaging	Het
Dpp6	T	C	5: 27,871,509 (GRCm39)	F544S	probably damaging	Het
Dthd1	C	T	5: 63,045,549 (GRCm39)	T771I	probably benign	Het
Emc10	A	G	7: 44,142,612 (GRCm39)		probably null	Het
Fgg	A	T	3: 82,920,072 (GRCm39)	T284S	probably benign	Het
Gask1a	C	T	9: 121,794,784 (GRCm39)	R313W	probably damaging	Het
Gm3002	T	A	14: 3,824,737 (GRCm38)	N24K	probably damaging	Het
Gm8674	G	A	13: 50,056,034 (GRCm39)		noncoding transcript	Het
Gpr63	G	A	4: 25,008,368 (GRCm39)	W364*	probably null	Het
Hcn4	C	G	9: 58,767,111 (GRCm39)	P891A	unknown	Het
Hcrtr1	A	T	4: 130,024,792 (GRCm39)	F365I	possibly damaging	Het
Hmcn2	A	G	2: 31,244,176 (GRCm39)		probably null	Het
Hoxc5	T	A	15: 102,923,786 (GRCm39)	L194H	probably damaging	Het
Ifna11	A	G	4: 88,738,287 (GRCm39)	N31S	probably null	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Iqgap2	A	T	13: 95,766,514 (GRCm39)	D1496E	probably benign	Het
Kif28	G	T	1: 179,536,007 (GRCm39)	Q556K	probably damaging	Het
Klhl42	C	T	6: 147,009,502 (GRCm39)	T447I	possibly damaging	Het
Lrp1b	A	C	2: 41,678,986 (GRCm39)	D35E	probably damaging	Het
Lsm14b	A	G	2: 179,675,692 (GRCm39)		probably benign	Het
Map3k1	T	C	13: 111,909,272 (GRCm39)	E226G	probably damaging	Het
Map3k14	T	A	11: 103,130,357 (GRCm39)	N187Y	probably benign	Het
Mcm6	A	T	1: 128,263,586 (GRCm39)	V645E	probably damaging	Het
Mdh1b	G	T	1: 63,759,022 (GRCm39)	P190Q	probably damaging	Het
Meiob	T	G	17: 25,037,353 (GRCm39)	L77R	probably damaging	Het
Mrgpra3	A	T	7: 47,239,267 (GRCm39)	F220I	probably benign	Het
Mrtfa	C	A	15: 80,929,476 (GRCm39)		probably benign	Het
Mtor	T	A	4: 148,575,817 (GRCm39)	S1324T	possibly damaging	Het
Myot	T	A	18: 44,487,995 (GRCm39)	D437E	possibly damaging	Het
Ncoa6	G	T	2: 155,263,252 (GRCm39)	T394K	possibly damaging	Het
Nf1	T	A	11: 79,456,379 (GRCm39)		probably null	Het
Nup210	T	A	6: 91,013,451 (GRCm39)	T1190S	possibly damaging	Het
Odf1	T	A	15: 38,226,652 (GRCm39)	I184N	probably damaging	Het
Or10d1	C	T	9: 39,484,054 (GRCm39)	C167Y	probably damaging	Het
Or13d1	T	C	4: 52,970,960 (GRCm39)	V113A	possibly damaging	Het
Or1n1b	A	G	2: 36,780,719 (GRCm39)	I47T	probably damaging	Het
Or5k15	G	T	16: 58,709,957 (GRCm39)	Q209K	possibly damaging	Het
Padi1	A	G	4: 140,572,901 (GRCm39)	V21A	probably benign	Het
Pdzrn3	C	T	6: 101,128,551 (GRCm39)	R705H	probably damaging	Het
Pik3cb	T	C	9: 98,987,685 (GRCm39)	I18V	probably benign	Het
Pmpca	T	C	2: 26,280,320 (GRCm39)	S117P	probably damaging	Het
Poteg	T	A	8: 27,985,009 (GRCm39)		probably benign	Het
Pramel32	T	C	4: 88,547,432 (GRCm39)	T80A	probably damaging	Het
Rab30	G	A	7: 92,478,771 (GRCm39)	R72H	probably damaging	Het
Ramp2	T	A	11: 101,138,383 (GRCm39)		probably null	Het
Rbks	G	A	5: 31,781,876 (GRCm39)	T308I	probably damaging	Het
Rnf112	A	G	11: 61,343,752 (GRCm39)		probably benign	Het
Rnf38	G	A	4: 44,152,460 (GRCm39)	P3S	probably damaging	Het
Sec16a	A	G	2: 26,302,883 (GRCm39)	S2344P	probably benign	Het
Slc16a8	C	T	15: 79,137,084 (GRCm39)	V109M	possibly damaging	Het
Slc28a1	A	T	7: 80,791,757 (GRCm39)	T308S	possibly damaging	Het
Slc39a3	T	C	10: 80,867,453 (GRCm39)	T98A	possibly damaging	Het
Smarcc2	T	C	10: 128,319,049 (GRCm39)	F731L	probably damaging	Het
Smc4	A	G	3: 68,925,572 (GRCm39)		probably benign	Het
Sparcl1	T	G	5: 104,240,776 (GRCm39)	D216A	probably damaging	Het
Speg	G	A	1: 75,364,513 (GRCm39)	R192H	probably damaging	Het
Sspo	T	C	6: 48,441,539 (GRCm39)	L1892P	probably damaging	Het
Styxl2	A	T	1: 165,954,675 (GRCm39)	V25E	probably damaging	Het
Tacc2	A	G	7: 130,225,678 (GRCm39)	N807D	probably damaging	Het
Teddm1a	A	T	1: 153,767,979 (GRCm39)	K148*	probably null	Het
Tex15	T	A	8: 34,064,498 (GRCm39)	D1309E	probably benign	Het
Thbs1	A	T	2: 117,945,259 (GRCm39)	E277D	probably benign	Het
Ticrr	G	A	7: 79,310,158 (GRCm39)	R24Q	probably damaging	Het
Tigd4	A	G	3: 84,502,460 (GRCm39)	E459G	probably benign	Het
Tln2	C	A	9: 67,262,407 (GRCm39)	A615S	probably damaging	Het
Tmprss5	T	C	9: 49,026,817 (GRCm39)	V410A	probably damaging	Het
Tnrc6a	G	T	7: 122,789,095 (GRCm39)	W1638L	probably damaging	Het
Tpr	A	G	1: 150,285,810 (GRCm39)	D424G	probably damaging	Het
Trim34a	A	T	7: 103,910,271 (GRCm39)	K358*	probably null	Het
Tssk5	T	A	15: 76,258,856 (GRCm39)	D10V	possibly damaging	Het
Usp35	A	C	7: 96,962,782 (GRCm39)	L470R	probably damaging	Het
Usp42	T	C	5: 143,701,119 (GRCm39)	D968G	possibly damaging	Het
Wdtc1	C	A	4: 133,021,654 (GRCm39)	A627S	probably damaging	Het
Xrra1	A	G	7: 99,555,730 (GRCm39)	T366A	probably damaging	Het
Zfp712	T	A	13: 67,188,773 (GRCm39)	K585*	probably null	Het
Zfp97	T	A	17: 17,365,393 (GRCm39)	N297K	probably damaging	Het
Zfp97	G	T	17: 17,364,938 (GRCm39)	E146*	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
FR4548:Utrn	UTSW	10	12,509,685 (GRCm39)	critical splice donor site	probably benign
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
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'- GGCGAGAGGATTATGAAAACATCTTT -3'
(R):5'- CAATGTTGTTGGGTAAGGCGAT -3'

Sequencing Primer
(F):5'- GAAGAAGAAGAACAACAACAACAAC -3'
(R):5'- GGCGATGCCTCTCTCTAATC -3'

Posted On

2016-04-27