Mutagenetix > Incidental Mutation

Incidental Mutation 'R0091:Utrn'

20221

Institutional Source

Beutler Lab

Gene Symbol

Utrn

Ensembl Gene

ENSMUSG00000019820

Gene Name

utrophin

Synonyms

G-utrophin, DRP, Dmdl

MMRRC Submission

038378-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0091 (G1)

Quality Score

128

Status

Validated (trace)

Chromosome

Chromosomal Location

12382188-12869365 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12735204 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 469 (D469G)

Ref Sequence

ENSEMBL: ENSMUSP00000151359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076817] [ENSMUST00000217899] [ENSMUST00000218635] [ENSMUST00000219584] [ENSMUST00000219660]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000076817
AA Change: D469G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076093
Gene: ENSMUSG00000019820
AA Change: D469G

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

possibly damaging
Transcript: ENSMUST00000217899
AA Change: D474G

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218635
AA Change: D469G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219584
AA Change: D469G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219660
AA Change: D469G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.3940

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.4%
20x: 84.5%

Validation Efficiency

98% (86/88)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 122,138,530 (GRCm38)	S278P	possibly damaging	Het
Adam11	A	G	11: 102,772,839 (GRCm38)	Y281C	probably damaging	Het
Adam6a	G	T	12: 113,544,229 (GRCm38)	R74L	possibly damaging	Het
Adcy5	T	C	16: 35,270,998 (GRCm38)		probably null	Het
Adrb2	A	G	18: 62,179,019 (GRCm38)	L245P	probably benign	Het
Aebp2	T	C	6: 140,644,074 (GRCm38)		probably null	Het
Arhgap23	A	G	11: 97,452,244 (GRCm38)	T240A	probably benign	Het
Atp10a	T	C	7: 58,774,046 (GRCm38)		probably benign	Het
Atp13a4	T	A	16: 29,455,395 (GRCm38)	Y416F	probably damaging	Het
Atp5g2	A	C	15: 102,663,057 (GRCm38)	L133R	probably damaging	Het
Bicral	A	T	17: 46,825,307 (GRCm38)	Y326N	probably damaging	Het
Chst4	T	C	8: 110,030,665 (GRCm38)	S189G	probably damaging	Het
Cnot1	A	T	8: 95,763,144 (GRCm38)	I477N	probably damaging	Het
Col7a1	G	T	9: 108,967,506 (GRCm38)		probably benign	Het
Dchs1	A	G	7: 105,766,094 (GRCm38)		probably benign	Het
Dcn	A	G	10: 97,506,689 (GRCm38)	N169S	probably benign	Het
Dnajc6	T	C	4: 101,616,777 (GRCm38)		probably benign	Het
Egln3	A	G	12: 54,181,646 (GRCm38)	F225L	probably benign	Het
Erap1	G	A	13: 74,668,052 (GRCm38)	R100Q	possibly damaging	Het
Erc2	A	T	14: 27,776,824 (GRCm38)		probably null	Het
Fto	G	A	8: 91,441,807 (GRCm38)		probably null	Het
Gdap1l1	C	T	2: 163,446,091 (GRCm38)	P80S	probably damaging	Het
Gm1123	T	C	9: 99,023,352 (GRCm38)	E35G	possibly damaging	Het
Hhipl1	A	G	12: 108,321,897 (GRCm38)		probably benign	Het
Ift80	A	T	3: 68,914,675 (GRCm38)	L679Q	probably damaging	Het
Il18	A	G	9: 50,576,713 (GRCm38)		probably benign	Het
Inhbb	T	C	1: 119,417,395 (GRCm38)	Y388C	probably damaging	Het
Kmt2d	G	T	15: 98,844,479 (GRCm38)		probably benign	Het
Krt20	A	G	11: 99,437,814 (GRCm38)	V95A	probably damaging	Het
Lck	A	T	4: 129,555,681 (GRCm38)	S274R	possibly damaging	Het
Lrp1	T	A	10: 127,540,979 (GRCm38)	N4243I	probably damaging	Het
Lrrfip2	G	A	9: 111,214,243 (GRCm38)	V506I	probably damaging	Het
Ltbp2	A	G	12: 84,793,733 (GRCm38)	C1000R	probably damaging	Het
Matn3	G	A	12: 8,952,105 (GRCm38)	D106N	probably damaging	Het
Micalcl	A	G	7: 112,381,296 (GRCm38)	E49G	probably benign	Het
Mmadhc	A	G	2: 50,292,857 (GRCm38)	S36P	probably damaging	Het
Morn1	T	C	4: 155,145,172 (GRCm38)	Y433H	probably damaging	Het
Mpo	A	G	11: 87,801,610 (GRCm38)	M525V	probably benign	Het
Myo5a	C	T	9: 75,161,492 (GRCm38)	R659C	probably damaging	Het
Obox6	T	C	7: 15,834,439 (GRCm38)	S171G	probably benign	Het
Olfr1280	T	A	2: 111,316,173 (GRCm38)	D231E	probably benign	Het
Olfr347	A	G	2: 36,734,905 (GRCm38)	N195D	probably damaging	Het
Olfr998	A	T	2: 85,591,352 (GRCm38)	N271Y	probably benign	Het
P2ry14	A	G	3: 59,115,893 (GRCm38)	Y49H	probably benign	Het
Papss2	C	T	19: 32,633,902 (GRCm38)	T17I	possibly damaging	Het
Pcid2	T	C	8: 13,085,392 (GRCm38)	T206A	probably benign	Het
Pex6	A	G	17: 46,711,918 (GRCm38)	E140G	probably damaging	Het
Ppp1r3b	A	G	8: 35,384,667 (GRCm38)	Y220C	probably damaging	Het
Prdx2	T	G	8: 84,971,701 (GRCm38)		probably benign	Het
Ptbp2	A	T	3: 119,720,661 (GRCm38)	L471Q	probably damaging	Het
Rbm33	T	A	5: 28,352,606 (GRCm38)	D232E	possibly damaging	Het
Rnf214	T	A	9: 45,898,493 (GRCm38)		probably null	Het
Rora	G	A	9: 69,374,048 (GRCm38)	R314H	probably damaging	Het
Rufy4	T	C	1: 74,128,936 (GRCm38)		probably benign	Het
Sag	T	C	1: 87,814,680 (GRCm38)	V58A	probably damaging	Het
Serpina3i	C	T	12: 104,265,164 (GRCm38)	T20M	probably damaging	Het
Slc4a5	A	G	6: 83,277,555 (GRCm38)	N578S	probably benign	Het
Soat2	A	G	15: 102,158,139 (GRCm38)	Y285C	probably damaging	Het
Syk	A	G	13: 52,640,733 (GRCm38)	Y478C	probably damaging	Het
Syne4	G	A	7: 30,318,919 (GRCm38)	G362E	probably damaging	Het
Tas2r126	A	T	6: 42,435,102 (GRCm38)	M190L	probably benign	Het
Tnfrsf21	C	T	17: 43,038,213 (GRCm38)	H239Y	probably benign	Het
Ttc19	A	G	11: 62,309,084 (GRCm38)	D218G	probably damaging	Het
Tut1	T	C	19: 8,965,436 (GRCm38)	V629A	probably damaging	Het
Txndc11	T	C	16: 11,088,104 (GRCm38)	N521D	probably benign	Het
Ushbp1	T	C	8: 71,388,970 (GRCm38)	E405G	possibly damaging	Het
Usp46	C	T	5: 74,003,257 (GRCm38)	R246Q	probably benign	Het
Vmn2r104	T	A	17: 20,041,813 (GRCm38)	I352F	possibly damaging	Het
Wdr4	G	A	17: 31,496,916 (GRCm38)	T398I	probably benign	Het
Ythdc1	T	A	5: 86,820,701 (GRCm38)		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
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
R1778:Utrn	UTSW	10	12,436,364 (GRCm38)	missense	probably damaging	1.00
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'- CCCTTCTGTACAAACAAGGATGCCC -3'
(R):5'- ACTCGCAGACTCTGGCTCCTAATG -3'

Sequencing Primer
(F):5'- ATGCCCAGGAGGAACAATAC -3'
(R):5'- CAGACTCTGGCTCCTAATGAAATG -3'

Posted On

2013-04-11