Mutagenetix > Incidental Mutation

Incidental Mutation 'R1735:Utrn'

199644

Institutional Source

Beutler Lab

Gene Symbol

Utrn

Ensembl Gene

ENSMUSG00000019820

Gene Name

utrophin

Synonyms

G-utrophin, Dmdl, DRP

MMRRC Submission

039767-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12257932-12745109 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12585882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 965 (H965L)

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
AA Change: H965L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076093
Gene: ENSMUSG00000019820
AA Change: H965L

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
AA Change: H965L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 97.6%
3x: 97.0%
10x: 95.3%
20x: 92.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	T	12: 84,122,261 (GRCm39)	I282F	probably benign	Het
Adam19	C	A	11: 46,029,744 (GRCm39)	Q730K	probably benign	Het
Adgrv1	A	G	13: 81,636,066 (GRCm39)	V3481A	possibly damaging	Het
Akr1c20	T	C	13: 4,537,207 (GRCm39)	D316G	probably benign	Het
Ap3b1	G	A	13: 94,630,225 (GRCm39)	V827I	unknown	Het
Aph1a	T	A	3: 95,802,821 (GRCm39)	D140E	probably damaging	Het
Arhgef19	G	T	4: 140,976,929 (GRCm39)	V502L	possibly damaging	Het
Arl9	T	C	5: 77,154,473 (GRCm39)	F67S	probably damaging	Het
B430305J03Rik	G	A	3: 61,271,361 (GRCm39)		probably benign	Het
B4galnt2	A	G	11: 95,781,809 (GRCm39)	F119L	probably damaging	Het
Bcap29	T	A	12: 31,680,839 (GRCm39)	N49I	probably damaging	Het
Capn11	T	A	17: 45,943,327 (GRCm39)	K616*	probably null	Het
Cdh12	T	A	15: 21,520,452 (GRCm39)	Y306N	probably damaging	Het
Cep350	T	A	1: 155,828,960 (GRCm39)	N315Y	probably damaging	Het
Cfap300	A	C	9: 8,027,266 (GRCm39)	S91A	probably benign	Het
Cited2	C	A	10: 17,599,794 (GRCm39)	P34Q	probably damaging	Het
Cmya5	A	T	13: 93,226,297 (GRCm39)	D2930E	probably benign	Het
Cog3	T	A	14: 75,966,761 (GRCm39)	K470*	probably null	Het
Commd10	A	G	18: 47,123,552 (GRCm39)	T136A	probably benign	Het
Csf2ra	C	A	19: 61,214,782 (GRCm39)	D181Y	probably damaging	Het
Csmd1	T	A	8: 15,982,610 (GRCm39)	I2686F	probably damaging	Het
Dhx29	T	C	13: 113,081,620 (GRCm39)	S415P	probably benign	Het
Dsel	A	T	1: 111,788,645 (GRCm39)	F630Y	probably damaging	Het
Ell	T	A	8: 71,031,590 (GRCm39)	I96N	possibly damaging	Het
Ephx2	T	A	14: 66,325,752 (GRCm39)	I358L	probably benign	Het
Fam162b	A	G	10: 51,463,307 (GRCm39)	I120T	probably damaging	Het
Fam187a	T	C	11: 102,776,606 (GRCm39)	Y137H	probably damaging	Het
Fastk	T	C	5: 24,646,801 (GRCm39)	E403G	probably damaging	Het
Fcrlb	C	A	1: 170,734,901 (GRCm39)	V409F	probably benign	Het
Flot2	G	T	11: 77,948,831 (GRCm39)	A269S	probably benign	Het
Gpd2	T	A	2: 57,245,563 (GRCm39)	N419K	probably damaging	Het
Hecw1	A	T	13: 14,552,350 (GRCm39)	M61K	probably null	Het
Htr2a	T	C	14: 74,943,568 (GRCm39)	F383L	probably damaging	Het
Kctd6	C	T	14: 8,222,253 (GRCm38)	R32C	probably damaging	Het
Khdc1a	A	G	1: 21,421,189 (GRCm39)	T125A	probably benign	Het
Klhl40	T	C	9: 121,609,004 (GRCm39)	S390P	probably benign	Het
Lonp1	G	A	17: 56,921,956 (GRCm39)	T808I	probably damaging	Het
Loxhd1	A	C	18: 77,492,585 (GRCm39)	D1342A	probably damaging	Het
Lrat	T	C	3: 82,804,417 (GRCm39)	I187V	probably benign	Het
Lrif1	T	C	3: 106,643,162 (GRCm39)	*238Q	probably null	Het
Lrp2bp	T	C	8: 46,465,025 (GRCm39)	F48S	probably benign	Het
Mafg	A	G	11: 120,520,504 (GRCm39)	M32T	possibly damaging	Het
Map4	C	T	9: 109,864,023 (GRCm39)	T416I	probably benign	Het
N4bp2	T	C	5: 65,965,659 (GRCm39)	F1236S	probably damaging	Het
Nfatc3	A	G	8: 106,810,466 (GRCm39)	D414G	probably damaging	Het
Nhsl3	G	T	4: 129,117,370 (GRCm39)	S476R	probably damaging	Het
Nrip2	T	G	6: 128,382,037 (GRCm39)	V50G	probably damaging	Het
Or10aa3	A	T	1: 173,878,365 (GRCm39)	K142I	probably benign	Het
Or10j5	A	G	1: 172,784,374 (GRCm39)	N4S	probably benign	Het
Or52ae7	T	A	7: 103,119,353 (GRCm39)	F36I	possibly damaging	Het
Or5b24	T	A	19: 12,912,207 (GRCm39)	I35N	probably damaging	Het
Pcdhb18	A	T	18: 37,623,822 (GRCm39)	H384L	probably benign	Het
Pik3r1	A	T	13: 101,822,882 (GRCm39)	Y607N	probably damaging	Het
Plagl2	G	A	2: 153,074,397 (GRCm39)	T168I	probably damaging	Het
Polr2a	A	G	11: 69,633,222 (GRCm39)	S912P	probably damaging	Het
Ppp1r16b	A	G	2: 158,603,415 (GRCm39)	K447E	possibly damaging	Het
Prkd1	T	C	12: 50,388,822 (GRCm39)	E907G	possibly damaging	Het
Rabep2	A	G	7: 126,043,712 (GRCm39)	R470G	probably damaging	Het
Rasal2	T	C	1: 157,001,730 (GRCm39)	Y518C	probably damaging	Het
Rbmxl1	A	G	8: 79,232,711 (GRCm39)	Y211H	probably damaging	Het
Rdh7	T	C	10: 127,720,454 (GRCm39)	Y306C	probably benign	Het
Rtn3	T	C	19: 7,435,276 (GRCm39)	I220V	probably damaging	Het
Scn8a	A	G	15: 100,913,742 (GRCm39)	N1045D	possibly damaging	Het
Scube1	T	C	15: 83,491,638 (GRCm39)	H952R	probably damaging	Het
Sf3b1	A	G	1: 55,039,811 (GRCm39)	I690T	probably damaging	Het
Sharpin	T	C	15: 76,232,136 (GRCm39)	K240R	probably benign	Het
Skint5	A	G	4: 113,420,656 (GRCm39)	I1108T	unknown	Het
Snip1	A	G	4: 124,964,994 (GRCm39)	D133G	probably benign	Het
St3gal3	T	C	4: 117,871,971 (GRCm39)	Y77C	probably damaging	Het
Sytl3	T	C	17: 6,982,880 (GRCm39)	V112A	probably benign	Het
Tnxb	C	T	17: 34,936,944 (GRCm39)	P3718S	probably damaging	Het
Ttc24	A	T	3: 87,980,401 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,839,473 (GRCm39)	E1529V	probably damaging	Het
Xrn2	T	A	2: 146,903,343 (GRCm39)	L781Q	probably damaging	Het
Zbtb11	T	C	16: 55,811,045 (GRCm39)	I401T	probably benign	Het
Zc3h14	C	T	12: 98,724,839 (GRCm39)	P167L	probably damaging	Het
Zfp609	G	T	9: 65,610,374 (GRCm39)	S863*	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
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'- TGTGCCCTGAAACAAGCCTAAACTC -3'
(R):5'- TGTACAGAATCCATGATGCCACACC -3'

Sequencing Primer
(F):5'- CTCGATTTACCTCAAAATCTCGGAG -3'
(R):5'- GATGCCACACCTACTTATGAGAAAA -3'

Posted On

2014-05-23