Mutagenetix > Incidental Mutation

Incidental Mutation 'R1778:Utrn'

197252

Institutional Source

Beutler Lab

Gene Symbol

Utrn

Ensembl Gene

ENSMUSG00000019820

Gene Name

utrophin

Synonyms

G-utrophin, DRP, Dmdl

MMRRC Submission

039809-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1778 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12382188-12869365 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12436364 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 616 (D616Y)

Ref Sequence

ENSEMBL: ENSMUSP00000151628 (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: D3090Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076093
Gene: ENSMUSG00000019820
AA Change: D3090Y

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: D647Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218635
AA Change: D3090Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219003
AA Change: D616Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9478

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

98% (107/109)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	G	T	10: 77,982,944 (GRCm38)	A150S	probably benign	Het
4930432E11Rik	T	C	7: 29,560,706 (GRCm38)		noncoding transcript	Het
4930568D16Rik	A	G	2: 35,354,983 (GRCm38)	M119T	probably damaging	Het
Aadacl2	A	G	3: 60,017,450 (GRCm38)		probably null	Het
Abca9	C	T	11: 110,130,716 (GRCm38)	W1056*	probably null	Het
Adam20	A	C	8: 40,796,661 (GRCm38)	T603P	possibly damaging	Het
Adgrl1	T	C	8: 83,930,037 (GRCm38)	L323P	probably damaging	Het
Afap1l2	C	T	19: 56,916,206 (GRCm38)	E628K	possibly damaging	Het
Ahctf1	A	T	1: 179,753,015 (GRCm38)	L1874Q	possibly damaging	Het
Ak8	A	G	2: 28,712,321 (GRCm38)	E89G	probably benign	Het
Aldh16a1	G	A	7: 45,147,308 (GRCm38)	R256C	probably damaging	Het
Anxa5	G	A	3: 36,465,331 (GRCm38)	T3M	probably damaging	Het
Arhgef16	T	C	4: 154,287,986 (GRCm38)	K210E	probably benign	Het
Armc4	A	T	18: 7,127,388 (GRCm38)	C942S	probably damaging	Het
Baz2b	T	C	2: 60,006,136 (GRCm38)	T18A	unknown	Het
BC037034	T	C	5: 138,262,477 (GRCm38)		probably null	Het
Bub1	A	C	2: 127,803,122 (GRCm38)	I960M	possibly damaging	Het
Cbln2	G	T	18: 86,713,147 (GRCm38)	D27Y	probably benign	Het
Ces2h	C	A	8: 105,014,607 (GRCm38)	P77Q	possibly damaging	Het
Chga	T	A	12: 102,561,700 (GRCm38)	M150K	probably benign	Het
Chmp3	A	G	6: 71,577,807 (GRCm38)	E162G	probably benign	Het
Clip3	A	G	7: 30,297,436 (GRCm38)	N161S	probably damaging	Het
Col12a1	T	A	9: 79,604,585 (GRCm38)		probably benign	Het
Cuedc2	C	T	19: 46,331,640 (GRCm38)	G105D	probably benign	Het
Cyp2j7	A	C	4: 96,199,390 (GRCm38)	F428V	probably damaging	Het
Ddx60	A	G	8: 61,974,176 (GRCm38)	I762V	possibly damaging	Het
Def6	G	A	17: 28,220,186 (GRCm38)	R257Q	probably benign	Het
Dkkl1	A	T	7: 45,211,395 (GRCm38)		probably null	Het
Dnah3	A	G	7: 120,078,402 (GRCm38)	L433P	probably damaging	Het
Eif2s3y	C	T	Y: 1,011,287 (GRCm38)	R33C	probably benign	Het
Elavl2	T	A	4: 91,253,478 (GRCm38)	Y269F	probably damaging	Het
Esco2	A	G	14: 65,831,262 (GRCm38)	S200P	possibly damaging	Het
Fam213b	A	T	4: 154,897,357 (GRCm38)	V151D	probably damaging	Het
Fcrl1	T	A	3: 87,385,319 (GRCm38)		probably benign	Het
Fhod1	C	A	8: 105,329,677 (GRCm38)	D1135Y	probably damaging	Het
Fnbp1l	T	C	3: 122,590,147 (GRCm38)	N41D	possibly damaging	Het
Folh1	A	T	7: 86,761,699 (GRCm38)		probably null	Het
Fpr-rs7	T	C	17: 20,114,015 (GRCm38)	D71G	probably damaging	Het
Gm10271	A	G	10: 116,961,939 (GRCm38)		probably benign	Het
Gm4841	A	T	18: 60,270,948 (GRCm38)	Y24*	probably null	Het
Gm9825	A	T	6: 7,983,124 (GRCm38)		noncoding transcript	Het
Greb1	G	A	12: 16,690,894 (GRCm38)	R1396C	probably benign	Het
Hectd1	C	T	12: 51,753,807 (GRCm38)	C2076Y	probably damaging	Het
Hnrnpu	A	G	1: 178,325,241 (GRCm38)		probably benign	Het
Ice2	T	C	9: 69,415,648 (GRCm38)	I475T	probably benign	Het
Ifit1bl1	T	A	19: 34,594,193 (GRCm38)	Q288L	probably damaging	Het
Ik	T	C	18: 36,756,818 (GRCm38)		probably benign	Het
Kidins220	C	T	12: 25,013,446 (GRCm38)		probably benign	Het
Kmt2c	T	C	5: 25,372,974 (GRCm38)	D768G	probably benign	Het
Kmt2e	A	G	5: 23,492,364 (GRCm38)	T87A	probably damaging	Het
Lama5	G	A	2: 180,195,481 (GRCm38)		probably benign	Het
Lmbr1l	A	G	15: 98,912,476 (GRCm38)	S85P	probably damaging	Het
Lrig2	A	G	3: 104,467,366 (GRCm38)		probably benign	Het
Lrig3	A	G	10: 126,010,075 (GRCm38)	D791G	probably damaging	Het
Lrrc2	G	A	9: 110,980,840 (GRCm38)	V315M	probably benign	Het
Lrrc4b	A	G	7: 44,462,399 (GRCm38)	D565G	probably benign	Het
Mpped1	C	T	15: 83,791,990 (GRCm38)		probably benign	Het
Msrb2	T	A	2: 19,383,303 (GRCm38)	D87E	probably benign	Het
Muc20	T	C	16: 32,794,141 (GRCm38)	T289A	possibly damaging	Het
Myo15	C	A	11: 60,478,412 (GRCm38)	P666Q	possibly damaging	Het
Nfat5	C	T	8: 107,361,789 (GRCm38)	P579L	probably damaging	Het
Nipbl	A	C	15: 8,319,488 (GRCm38)	M1920R	probably damaging	Het
Nuak1	T	C	10: 84,374,874 (GRCm38)		probably null	Het
Nup210l	A	G	3: 90,189,486 (GRCm38)	E1334G	probably damaging	Het
Olfr12	G	A	1: 92,620,620 (GRCm38)	G238E	possibly damaging	Het
Olfr1410	A	T	1: 92,608,109 (GRCm38)	N91Y	possibly damaging	Het
Olfr262	T	A	19: 12,241,455 (GRCm38)	I69F	probably benign	Het
Olfr675	A	T	7: 105,024,163 (GRCm38)	N272K	probably benign	Het
Olfr804	T	C	10: 129,705,705 (GRCm38)	Y276H	probably benign	Het
P4ha3	A	T	7: 100,300,691 (GRCm38)		probably null	Het
Pbld2	C	T	10: 63,054,371 (GRCm38)	A186V	probably benign	Het
Pcdh18	A	T	3: 49,755,634 (GRCm38)	Y411N	probably benign	Het
Pgf	A	G	12: 85,171,767 (GRCm38)	S70P	probably benign	Het
Phrf1	T	A	7: 141,232,456 (GRCm38)	D44E	probably benign	Het
Pla2g4a	A	G	1: 149,902,445 (GRCm38)		probably benign	Het
Plce1	A	G	19: 38,780,790 (GRCm38)		probably benign	Het
Plxna2	A	G	1: 194,810,970 (GRCm38)	N1851S	probably benign	Het
Prl7a2	G	A	13: 27,659,271 (GRCm38)	T183I	probably damaging	Het
Ptger4	A	T	15: 5,235,095 (GRCm38)	L335H	probably damaging	Het
Ptgr1	A	G	4: 58,984,865 (GRCm38)		probably benign	Het
Rdh7	A	G	10: 127,884,721 (GRCm38)	S261P	probably benign	Het
Reg3a	A	G	6: 78,383,286 (GRCm38)	T150A	probably benign	Het
Rnf111	A	G	9: 70,476,112 (GRCm38)	S180P	probably benign	Het
Rnf17	A	G	14: 56,522,399 (GRCm38)	M1554V	probably damaging	Het
Rnf215	T	A	11: 4,135,873 (GRCm38)	Y117*	probably null	Het
Rogdi	T	C	16: 5,010,505 (GRCm38)	T165A	probably benign	Het
Rpe65	A	G	3: 159,622,848 (GRCm38)	Y431C	probably damaging	Het
Scube1	A	G	15: 83,610,204 (GRCm38)	F844S	probably damaging	Het
Sdr16c6	T	A	4: 4,058,814 (GRCm38)	E257D	probably benign	Het
Sim1	C	A	10: 50,981,553 (GRCm38)	C466*	probably null	Het
Spi1	T	A	2: 91,099,522 (GRCm38)	H46Q	probably damaging	Het
Sumf2	C	A	5: 129,845,068 (GRCm38)		probably benign	Het
Tbcb	A	G	7: 30,231,612 (GRCm38)	Y28H	probably benign	Het
Tecta	C	T	9: 42,343,631 (GRCm38)	C1752Y	probably damaging	Het
Tep1	T	C	14: 50,829,622 (GRCm38)		probably benign	Het
Tmem245	A	T	4: 56,903,968 (GRCm38)	W591R	probably damaging	Het
Tnxb	A	G	17: 34,683,574 (GRCm38)	I1134V	probably benign	Het
Trim13	G	T	14: 61,605,619 (GRCm38)	A362S	probably benign	Het
Trim47	T	A	11: 116,109,820 (GRCm38)	D134V	probably damaging	Het
Ttc26	T	A	6: 38,409,476 (GRCm38)	D377E	possibly damaging	Het
Vnn1	G	T	10: 23,899,517 (GRCm38)	A222S	possibly damaging	Het
Wdr17	A	G	8: 54,690,214 (GRCm38)	W110R	probably damaging	Het
Wwp1	G	T	4: 19,627,892 (GRCm38)	Y700*	probably null	Het
Zbtb21	T	C	16: 97,950,585 (GRCm38)	S661G	probably benign	Het
Zfp955b	A	G	17: 33,302,814 (GRCm38)	K419R	probably benign	Het

Other mutations in Utrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Utrn	APN	10	12,671,830 (GRCm38)	missense	probably damaging	1.00
IGL00469:Utrn	APN	10	12,406,529 (GRCm38)	missense	probably damaging	1.00
IGL00518:Utrn	APN	10	12,666,843 (GRCm38)	splice site	probably benign
IGL00560:Utrn	APN	10	12,455,467 (GRCm38)	nonsense	probably null
IGL00589:Utrn	APN	10	12,678,618 (GRCm38)	missense	possibly damaging	0.53
IGL00662:Utrn	APN	10	12,664,961 (GRCm38)	missense	probably damaging	0.99
IGL00754:Utrn	APN	10	12,663,492 (GRCm38)	missense	probably benign	0.05
IGL00772:Utrn	APN	10	12,649,185 (GRCm38)	missense	probably benign
IGL00775:Utrn	APN	10	12,745,230 (GRCm38)	critical splice donor site	probably null
IGL00782:Utrn	APN	10	12,652,811 (GRCm38)	missense	probably benign	0.13
IGL00962:Utrn	APN	10	12,481,334 (GRCm38)	missense	possibly damaging	0.80
IGL01584:Utrn	APN	10	12,726,367 (GRCm38)	missense	probably benign	0.01
IGL01677:Utrn	APN	10	12,744,157 (GRCm38)	missense	probably damaging	1.00
IGL01695:Utrn	APN	10	12,745,342 (GRCm38)	missense	probably benign	0.00
IGL01743:Utrn	APN	10	12,711,557 (GRCm38)	missense	possibly damaging	0.94
IGL01815:Utrn	APN	10	12,652,716 (GRCm38)	missense	probably benign	0.00
IGL01901:Utrn	APN	10	12,640,928 (GRCm38)	missense	probably damaging	1.00
IGL01982:Utrn	APN	10	12,748,029 (GRCm38)	missense	probably damaging	1.00
IGL01983:Utrn	APN	10	12,669,781 (GRCm38)	missense	probably benign	0.18
IGL02031:Utrn	APN	10	12,735,204 (GRCm38)	missense	probably damaging	1.00
IGL02106:Utrn	APN	10	12,413,973 (GRCm38)	missense	possibly damaging	0.92
IGL02134:Utrn	APN	10	12,643,419 (GRCm38)	missense	probably damaging	0.99
IGL02209:Utrn	APN	10	12,683,295 (GRCm38)	missense	probably damaging	0.97
IGL02217:Utrn	APN	10	12,751,559 (GRCm38)	missense	probably damaging	1.00
IGL02250:Utrn	APN	10	12,436,391 (GRCm38)	missense	probably damaging	1.00
IGL02307:Utrn	APN	10	12,750,065 (GRCm38)	nonsense	probably null
IGL02386:Utrn	APN	10	12,421,608 (GRCm38)	missense	possibly damaging	0.91
IGL02494:Utrn	APN	10	12,710,054 (GRCm38)	missense	probably benign
IGL02631:Utrn	APN	10	12,710,063 (GRCm38)	missense	probably benign	0.00
IGL02729:Utrn	APN	10	12,720,810 (GRCm38)	unclassified	probably benign
IGL02736:Utrn	APN	10	12,421,640 (GRCm38)	missense	probably damaging	1.00
IGL02832:Utrn	APN	10	12,738,193 (GRCm38)	missense	possibly damaging	0.82
IGL02926:Utrn	APN	10	12,690,760 (GRCm38)	missense	probably damaging	0.96
IGL03184:Utrn	APN	10	12,710,166 (GRCm38)	missense	probably benign	0.04
IGL03194:Utrn	APN	10	12,406,429 (GRCm38)	splice site	probably benign
IGL03346:Utrn	APN	10	12,525,352 (GRCm38)	missense	probably benign	0.22
retiring	UTSW	10	12,641,020 (GRCm38)	missense	probably damaging	1.00
shrinking_violet	UTSW	10	12,711,585 (GRCm38)	critical splice acceptor site	probably null
Wallflower	UTSW	10	12,747,975 (GRCm38)	missense	probably damaging	1.00
FR4548:Utrn	UTSW	10	12,633,941 (GRCm38)	critical splice donor site	probably benign
I2288:Utrn	UTSW	10	12,421,640 (GRCm38)	missense	probably damaging	1.00
PIT4677001:Utrn	UTSW	10	12,666,704 (GRCm38)	missense	probably benign	0.06
R0022:Utrn	UTSW	10	12,709,956 (GRCm38)	splice site	probably benign
R0024:Utrn	UTSW	10	12,406,011 (GRCm38)	missense	probably benign	0.00
R0024:Utrn	UTSW	10	12,406,011 (GRCm38)	missense	probably benign	0.00
R0026:Utrn	UTSW	10	12,726,196 (GRCm38)	splice site	probably benign
R0026:Utrn	UTSW	10	12,726,196 (GRCm38)	splice site	probably benign
R0091:Utrn	UTSW	10	12,735,204 (GRCm38)	missense	probably damaging	1.00
R0112:Utrn	UTSW	10	12,686,465 (GRCm38)	nonsense	probably null
R0126:Utrn	UTSW	10	12,711,475 (GRCm38)	missense	probably benign	0.02
R0184:Utrn	UTSW	10	12,667,618 (GRCm38)	missense	probably benign
R0219:Utrn	UTSW	10	12,684,451 (GRCm38)	missense	probably damaging	1.00
R0369:Utrn	UTSW	10	12,634,022 (GRCm38)	missense	probably benign	0.37
R0390:Utrn	UTSW	10	12,710,060 (GRCm38)	missense	probably benign	0.05
R0391:Utrn	UTSW	10	12,525,333 (GRCm38)	splice site	probably benign
R0408:Utrn	UTSW	10	12,384,190 (GRCm38)	makesense	probably null
R0409:Utrn	UTSW	10	12,643,601 (GRCm38)	missense	probably benign	0.01
R0441:Utrn	UTSW	10	12,688,294 (GRCm38)	missense	probably null	0.88
R0504:Utrn	UTSW	10	12,402,895 (GRCm38)	missense	probably benign	0.02
R0730:Utrn	UTSW	10	12,698,158 (GRCm38)	splice site	probably benign
R1078:Utrn	UTSW	10	12,455,566 (GRCm38)	critical splice acceptor site	probably null
R1171:Utrn	UTSW	10	12,481,308 (GRCm38)	missense	probably damaging	0.99
R1191:Utrn	UTSW	10	12,634,033 (GRCm38)	missense	probably benign	0.02
R1203:Utrn	UTSW	10	12,486,537 (GRCm38)	missense	probably damaging	1.00
R1401:Utrn	UTSW	10	12,649,153 (GRCm38)	missense	probably benign
R1418:Utrn	UTSW	10	12,713,350 (GRCm38)	missense	probably benign
R1439:Utrn	UTSW	10	12,744,049 (GRCm38)	missense	possibly damaging	0.79
R1441:Utrn	UTSW	10	12,683,295 (GRCm38)	missense	probably damaging	0.97
R1445:Utrn	UTSW	10	12,678,574 (GRCm38)	splice site	probably benign
R1509:Utrn	UTSW	10	12,455,441 (GRCm38)	missense	possibly damaging	0.91
R1546:Utrn	UTSW	10	12,436,364 (GRCm38)	missense	probably damaging	1.00
R1585:Utrn	UTSW	10	12,436,285 (GRCm38)	missense	possibly damaging	0.62
R1621:Utrn	UTSW	10	12,713,283 (GRCm38)	missense	probably benign	0.24
R1637:Utrn	UTSW	10	12,436,364 (GRCm38)	missense	probably damaging	1.00
R1703:Utrn	UTSW	10	12,727,729 (GRCm38)	splice site	probably benign
R1725:Utrn	UTSW	10	12,663,519 (GRCm38)	missense	probably damaging	0.99
R1735:Utrn	UTSW	10	12,710,138 (GRCm38)	missense	probably benign
R1770:Utrn	UTSW	10	12,475,296 (GRCm38)	missense	probably damaging	0.98
R1783:Utrn	UTSW	10	12,463,339 (GRCm38)	missense	probably damaging	1.00
R1818:Utrn	UTSW	10	12,709,964 (GRCm38)	critical splice donor site	probably null
R1829:Utrn	UTSW	10	12,475,274 (GRCm38)	missense	probably damaging	1.00
R1919:Utrn	UTSW	10	12,455,480 (GRCm38)	missense	probably benign	0.15
R1964:Utrn	UTSW	10	12,684,437 (GRCm38)	missense	probably damaging	1.00
R2080:Utrn	UTSW	10	12,737,082 (GRCm38)	missense	probably benign	0.36
R2092:Utrn	UTSW	10	12,678,698 (GRCm38)	missense	probably benign	0.12
R2107:Utrn	UTSW	10	12,436,364 (GRCm38)	missense	probably damaging	1.00
R2108:Utrn	UTSW	10	12,436,364 (GRCm38)	missense	probably damaging	1.00
R2760:Utrn	UTSW	10	12,690,878 (GRCm38)	missense	probably damaging	1.00
R2884:Utrn	UTSW	10	12,739,361 (GRCm38)	splice site	probably null
R2885:Utrn	UTSW	10	12,739,361 (GRCm38)	splice site	probably null
R2886:Utrn	UTSW	10	12,739,361 (GRCm38)	splice site	probably null
R2903:Utrn	UTSW	10	12,643,428 (GRCm38)	missense	probably damaging	1.00
R2944:Utrn	UTSW	10	12,643,419 (GRCm38)	missense	probably damaging	1.00
R2945:Utrn	UTSW	10	12,486,391 (GRCm38)	missense	possibly damaging	0.50
R3438:Utrn	UTSW	10	12,481,318 (GRCm38)	missense	probably damaging	0.98
R3683:Utrn	UTSW	10	12,666,835 (GRCm38)	missense	probably benign	0.10
R3735:Utrn	UTSW	10	12,478,484 (GRCm38)	missense	probably damaging	1.00
R3907:Utrn	UTSW	10	12,710,182 (GRCm38)	splice site	probably benign
R3923:Utrn	UTSW	10	12,739,479 (GRCm38)	missense	probably benign	0.23
R3925:Utrn	UTSW	10	12,698,042 (GRCm38)	missense	probably benign
R3926:Utrn	UTSW	10	12,698,042 (GRCm38)	missense	probably benign
R3938:Utrn	UTSW	10	12,750,030 (GRCm38)	critical splice donor site	probably null
R3941:Utrn	UTSW	10	12,711,585 (GRCm38)	critical splice acceptor site	probably null
R3958:Utrn	UTSW	10	12,750,108 (GRCm38)	missense	probably damaging	1.00
R4091:Utrn	UTSW	10	12,710,171 (GRCm38)	missense	probably benign	0.10
R4454:Utrn	UTSW	10	12,727,840 (GRCm38)	missense	possibly damaging	0.81
R4585:Utrn	UTSW	10	12,688,306 (GRCm38)	missense	probably benign	0.01
R4667:Utrn	UTSW	10	12,698,053 (GRCm38)	missense	probably benign	0.22
R4684:Utrn	UTSW	10	12,745,240 (GRCm38)	missense	probably damaging	1.00
R4782:Utrn	UTSW	10	12,750,069 (GRCm38)	missense	probably damaging	1.00
R4785:Utrn	UTSW	10	12,654,745 (GRCm38)	missense	probably benign	0.39
R4799:Utrn	UTSW	10	12,750,069 (GRCm38)	missense	probably damaging	1.00
R4829:Utrn	UTSW	10	12,663,461 (GRCm38)	missense	probably benign	0.00
R4878:Utrn	UTSW	10	12,727,758 (GRCm38)	missense	probably damaging	1.00
R4955:Utrn	UTSW	10	12,861,567 (GRCm38)	critical splice donor site	probably null
R4967:Utrn	UTSW	10	12,455,420 (GRCm38)	missense	probably damaging	0.99
R5071:Utrn	UTSW	10	12,384,204 (GRCm38)	splice site	probably null
R5072:Utrn	UTSW	10	12,384,204 (GRCm38)	splice site	probably null
R5186:Utrn	UTSW	10	12,728,777 (GRCm38)	missense	probably damaging	1.00
R5213:Utrn	UTSW	10	12,636,760 (GRCm38)	missense	probably damaging	1.00
R5296:Utrn	UTSW	10	12,401,355 (GRCm38)	missense	probably damaging	1.00
R5309:Utrn	UTSW	10	12,727,769 (GRCm38)	missense	probably damaging	1.00
R5312:Utrn	UTSW	10	12,727,769 (GRCm38)	missense	probably damaging	1.00
R5399:Utrn	UTSW	10	12,640,983 (GRCm38)	missense	probably damaging	1.00
R5407:Utrn	UTSW	10	12,680,625 (GRCm38)	missense	probably damaging	1.00
R5411:Utrn	UTSW	10	12,649,185 (GRCm38)	missense	probably benign
R5428:Utrn	UTSW	10	12,693,431 (GRCm38)	missense	probably benign	0.09
R5595:Utrn	UTSW	10	12,682,318 (GRCm38)	missense	possibly damaging	0.89
R5602:Utrn	UTSW	10	12,750,095 (GRCm38)	missense	probably damaging	1.00
R5608:Utrn	UTSW	10	12,671,837 (GRCm38)	missense	probably benign	0.00
R5678:Utrn	UTSW	10	12,442,018 (GRCm38)	missense	probably damaging	1.00
R5726:Utrn	UTSW	10	12,669,806 (GRCm38)	missense	probably benign
R5804:Utrn	UTSW	10	12,421,625 (GRCm38)	missense	probably damaging	1.00
R5916:Utrn	UTSW	10	12,665,051 (GRCm38)	missense	probably damaging	0.97
R5941:Utrn	UTSW	10	12,486,483 (GRCm38)	missense	probably damaging	1.00
R6014:Utrn	UTSW	10	12,690,876 (GRCm38)	missense	probably benign	0.01
R6015:Utrn	UTSW	10	12,478,424 (GRCm38)	missense	possibly damaging	0.85
R6028:Utrn	UTSW	10	12,654,716 (GRCm38)	missense	probably benign	0.00
R6158:Utrn	UTSW	10	12,690,822 (GRCm38)	missense	probably benign	0.04
R6181:Utrn	UTSW	10	12,739,456 (GRCm38)	missense	probably damaging	1.00
R6300:Utrn	UTSW	10	12,501,476 (GRCm38)	missense	probably benign	0.35
R6367:Utrn	UTSW	10	12,747,975 (GRCm38)	missense	probably damaging	1.00
R6377:Utrn	UTSW	10	12,744,083 (GRCm38)	missense	probably damaging	1.00
R6434:Utrn	UTSW	10	12,525,427 (GRCm38)	missense	probably damaging	1.00
R6498:Utrn	UTSW	10	12,442,093 (GRCm38)	missense	probably benign
R6579:Utrn	UTSW	10	12,748,006 (GRCm38)	missense	probably benign	0.05
R6704:Utrn	UTSW	10	12,745,291 (GRCm38)	missense	probably damaging	0.99
R6736:Utrn	UTSW	10	12,621,303 (GRCm38)	missense	probably benign	0.09
R6755:Utrn	UTSW	10	12,699,087 (GRCm38)	missense	probably benign	0.00
R6793:Utrn	UTSW	10	12,699,100 (GRCm38)	missense	possibly damaging	0.69
R6793:Utrn	UTSW	10	12,640,925 (GRCm38)	critical splice donor site	probably null
R6835:Utrn	UTSW	10	12,727,764 (GRCm38)	missense	probably damaging	1.00
R6919:Utrn	UTSW	10	12,693,470 (GRCm38)	nonsense	probably null
R6920:Utrn	UTSW	10	12,750,470 (GRCm38)	missense	probably damaging	0.98
R7037:Utrn	UTSW	10	12,826,770 (GRCm38)	splice site	probably null
R7038:Utrn	UTSW	10	12,682,338 (GRCm38)	missense	probably damaging	1.00
R7055:Utrn	UTSW	10	12,747,921 (GRCm38)	missense	probably benign	0.23
R7072:Utrn	UTSW	10	12,465,213 (GRCm38)	missense	probably damaging	1.00
R7090:Utrn	UTSW	10	12,684,516 (GRCm38)	missense	possibly damaging	0.58
R7211:Utrn	UTSW	10	12,401,335 (GRCm38)	missense	possibly damaging	0.72
R7248:Utrn	UTSW	10	12,728,818 (GRCm38)	missense	possibly damaging	0.51
R7305:Utrn	UTSW	10	12,385,536 (GRCm38)	missense	probably benign
R7334:Utrn	UTSW	10	12,728,009 (GRCm38)	splice site	probably null
R7348:Utrn	UTSW	10	12,748,018 (GRCm38)	missense	probably damaging	1.00
R7375:Utrn	UTSW	10	12,641,020 (GRCm38)	missense	probably damaging	1.00
R7436:Utrn	UTSW	10	12,439,791 (GRCm38)	missense	possibly damaging	0.72
R7476:Utrn	UTSW	10	12,640,951 (GRCm38)	missense	probably benign
R7514:Utrn	UTSW	10	12,698,089 (GRCm38)	missense	probably benign	0.00
R7527:Utrn	UTSW	10	12,401,382 (GRCm38)	missense	possibly damaging	0.81
R7735:Utrn	UTSW	10	12,744,043 (GRCm38)	critical splice donor site	probably null
R7748:Utrn	UTSW	10	12,614,508 (GRCm38)	missense	probably benign	0.01
R7778:Utrn	UTSW	10	12,486,610 (GRCm38)	missense	probably damaging	1.00
R7824:Utrn	UTSW	10	12,486,610 (GRCm38)	missense	probably damaging	1.00
R7826:Utrn	UTSW	10	12,401,306 (GRCm38)	splice site	probably null
R7872:Utrn	UTSW	10	12,698,129 (GRCm38)	missense	probably benign
R7915:Utrn	UTSW	10	12,465,212 (GRCm38)	missense	probably damaging	1.00
R7922:Utrn	UTSW	10	12,667,527 (GRCm38)	missense	possibly damaging	0.68
R8081:Utrn	UTSW	10	12,548,059 (GRCm38)	start gained	probably benign
R8132:Utrn	UTSW	10	12,682,410 (GRCm38)	missense	probably damaging	0.99
R8167:Utrn	UTSW	10	12,671,814 (GRCm38)	nonsense	probably null
R8186:Utrn	UTSW	10	12,698,123 (GRCm38)	missense	probably benign
R8331:Utrn	UTSW	10	12,614,619 (GRCm38)	missense	probably benign	0.00
R8352:Utrn	UTSW	10	12,813,509 (GRCm38)	missense	probably benign	0.34
R8408:Utrn	UTSW	10	12,670,143 (GRCm38)	missense	possibly damaging	0.69
R8452:Utrn	UTSW	10	12,813,509 (GRCm38)	missense	probably benign	0.34
R8478:Utrn	UTSW	10	12,649,148 (GRCm38)	missense	probably benign
R8489:Utrn	UTSW	10	12,711,446 (GRCm38)	missense	probably benign	0.05
R8516:Utrn	UTSW	10	12,486,510 (GRCm38)	missense	probably damaging	0.99
R8520:Utrn	UTSW	10	12,670,186 (GRCm38)	nonsense	probably null
R8550:Utrn	UTSW	10	12,813,585 (GRCm38)	intron	probably benign
R8856:Utrn	UTSW	10	12,667,607 (GRCm38)	missense	probably benign
R8881:Utrn	UTSW	10	12,547,993 (GRCm38)	missense	possibly damaging	0.46
R9180:Utrn	UTSW	10	12,669,719 (GRCm38)	missense	probably damaging	1.00
R9186:Utrn	UTSW	10	12,614,574 (GRCm38)	missense	probably benign
R9216:Utrn	UTSW	10	12,813,485 (GRCm38)	missense	probably benign	0.19
R9251:Utrn	UTSW	10	12,636,787 (GRCm38)	missense	probably benign	0.01
R9273:Utrn	UTSW	10	12,633,963 (GRCm38)	missense	probably damaging	0.97
R9307:Utrn	UTSW	10	12,678,731 (GRCm38)	missense	probably benign	0.02
R9344:Utrn	UTSW	10	12,684,531 (GRCm38)	missense	probably benign	0.17
R9419:Utrn	UTSW	10	12,688,381 (GRCm38)	missense	probably damaging	1.00
R9435:Utrn	UTSW	10	12,643,429 (GRCm38)	missense	probably damaging	1.00
R9623:Utrn	UTSW	10	12,406,481 (GRCm38)	missense	probably damaging	1.00
R9650:Utrn	UTSW	10	12,738,185 (GRCm38)	missense	probably benign	0.00
R9653:Utrn	UTSW	10	12,663,445 (GRCm38)	missense	probably benign	0.41
R9653:Utrn	UTSW	10	12,621,379 (GRCm38)	missense	probably benign	0.17
R9672:Utrn	UTSW	10	12,727,869 (GRCm38)	missense	possibly damaging	0.68
R9678:Utrn	UTSW	10	12,739,415 (GRCm38)	missense	probably benign	0.00
R9741:Utrn	UTSW	10	12,826,820 (GRCm38)	missense	probably benign
R9765:Utrn	UTSW	10	12,735,177 (GRCm38)	missense	probably damaging	0.99
R9799:Utrn	UTSW	10	12,709,992 (GRCm38)	missense	probably benign	0.01
RF009:Utrn	UTSW	10	12,633,945 (GRCm38)	nonsense	probably null
V1662:Utrn	UTSW	10	12,421,640 (GRCm38)	missense	probably damaging	1.00
X0018:Utrn	UTSW	10	12,735,198 (GRCm38)	missense	probably damaging	1.00
Z1176:Utrn	UTSW	10	12,688,429 (GRCm38)	critical splice acceptor site	probably null
Z1176:Utrn	UTSW	10	12,682,360 (GRCm38)	nonsense	probably null
Z1177:Utrn	UTSW	10	12,621,379 (GRCm38)	missense	probably benign	0.17
Z1177:Utrn	UTSW	10	12,525,406 (GRCm38)	nonsense	probably null
Z1186:Utrn	UTSW	10	12,669,747 (GRCm38)	missense	probably damaging	1.00
Z1189:Utrn	UTSW	10	12,669,747 (GRCm38)	missense	probably damaging	1.00
Z1191:Utrn	UTSW	10	12,669,747 (GRCm38)	missense	probably damaging	1.00
Z1192:Utrn	UTSW	10	12,669,747 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCAGACAAACTCCAGATTGAAGAA -3'
(R):5'- GCCATCGCTTTTAAATTGACACTGAGAA -3'

Sequencing Primer
(F):5'- gggacagcaaagaatacacag -3'
(R):5'- TGACACTGAGAAACATCATCTTGC -3'

Posted On

2014-05-23