Mutagenetix > Incidental Mutation

Incidental Mutation 'R1919:Utrn'

212855

Institutional Source

Beutler Lab

Gene Symbol

Utrn

Ensembl Gene

ENSMUSG00000019820

Gene Name

utrophin

Synonyms

G-utrophin, DRP, Dmdl

MMRRC Submission

039937-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1919 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12382188-12869365 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12455480 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2904 (D2904G)

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 benign
Transcript: ENSMUST00000076817
AA Change: D2904G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000076093
Gene: ENSMUSG00000019820
AA Change: D2904G

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: ENSMUST00000217994
AA Change: D461G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000218635
AA Change: D2904G

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000219003
AA Change: D430G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,270	E740G	probably damaging	Het
4930474N05Rik	G	T	14: 36,095,457	V105F	possibly damaging	Het
4932438A13Rik	A	G	3: 37,006,983		probably null	Het
Actr10	A	G	12: 70,942,330	I74M	probably benign	Het
Aen	T	C	7: 78,905,912	Y108H	probably damaging	Het
Afm	A	T	5: 90,524,920	K205*	probably null	Het
Ankrd27	T	A	7: 35,632,985	S846T	probably benign	Het
Ano3	A	G	2: 110,885,007	S29P	probably benign	Het
Apaf1	C	T	10: 91,077,614	W138*	probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgef4	A	G	1: 34,811,140	Q1798R	probably damaging	Het
Astn1	G	A	1: 158,509,971	V416I	probably damaging	Het
Atxn2l	G	A	7: 126,493,168	T70I	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bspry	T	A	4: 62,494,797	C256S	probably damaging	Het
C3	C	A	17: 57,220,135	W771C	probably damaging	Het
Camkv	A	G	9: 107,947,088	D233G	possibly damaging	Het
Catsperd	T	A	17: 56,635,548	V109E	probably damaging	Het
Cd101	A	G	3: 101,018,917	L162P	probably damaging	Het
Cdr2l	A	G	11: 115,392,777	T154A	probably damaging	Het
Clca3a2	G	C	3: 144,810,696	Q380E	probably benign	Het
Col6a3	T	C	1: 90,822,359	N251S	possibly damaging	Het
Cttnbp2nl	A	G	3: 105,011,278	V82A	possibly damaging	Het
Cux1	G	A	5: 136,363,319	Q194*	probably null	Het
Daam2	T	C	17: 49,485,457	E361G	probably benign	Het
Dcaf17	A	T	2: 71,078,172		probably null	Het
Dnaic1	T	C	4: 41,570,020		probably null	Het
Eml5	T	C	12: 98,798,839	Y1617C	probably damaging	Het
Epb41l4b	T	C	4: 57,040,993	E490G	probably damaging	Het
Epha7	T	C	4: 28,963,969	M988T	possibly damaging	Het
Fancm	T	C	12: 65,105,520	C917R	possibly damaging	Het
Fnip1	C	T	11: 54,480,684	T177I	probably damaging	Het
Gm12169	A	G	11: 46,528,531	D58G	possibly damaging	Het
Gm3604	G	T	13: 62,369,942	H201N	probably benign	Het
Gnpda1	T	C	18: 38,333,190		probably null	Het
Gpatch8	A	G	11: 102,508,142		probably null	Het
H2-M3	T	C	17: 37,271,189	Y179H	possibly damaging	Het
H2-Q10	C	A	17: 35,470,488	S62R	probably damaging	Het
Hipk2	G	A	6: 38,818,984	R117*	probably null	Het
Hrg	A	T	16: 22,954,457	Q113H	probably damaging	Het
Kcnj16	T	C	11: 111,024,953	V147A	possibly damaging	Het
Kif1a	T	C	1: 93,019,031	I1650V	possibly damaging	Het
Kmt2a	C	T	9: 44,820,345		probably benign	Het
Krt90	A	T	15: 101,557,230	Y319N	probably damaging	Het
Lipo4	T	C	19: 33,499,271	N359S	possibly damaging	Het
Lrp1b	G	T	2: 41,728,729	T225K	probably benign	Het
Map1a	C	T	2: 121,307,012	P2532S	probably damaging	Het
Mmrn2	A	G	14: 34,397,643	D193G	probably benign	Het
Mpped2	T	A	2: 106,867,032	I284N	probably damaging	Het
Msh6	A	G	17: 87,985,125	H436R	probably benign	Het
Mterf3	A	T	13: 66,930,062	S48T	probably damaging	Het
Muc5b	T	C	7: 141,846,031	F414L	unknown	Het
Mylk4	A	T	13: 32,724,853	D90E	probably benign	Het
Nploc4	A	G	11: 120,404,229	Y420H	probably damaging	Het
Npr2	T	A	4: 43,640,578	Y344N	probably damaging	Het
Nsun5	A	G	5: 135,375,598	T397A	probably benign	Het
Ntsr2	A	T	12: 16,654,110	Q204L	probably damaging	Het
Nwd2	T	A	5: 63,806,180	Y1036N	probably damaging	Het
Oacyl	T	C	18: 65,710,547	V105A	possibly damaging	Het
Olfr791	T	A	10: 129,527,049	V274D	probably damaging	Het
Parp3	T	A	9: 106,475,117	Q70L	possibly damaging	Het
Parp4	T	C	14: 56,624,017	S936P	probably damaging	Het
Pdzd3	T	C	9: 44,250,303	D93G	possibly damaging	Het
Phkb	A	G	8: 85,922,161	E202G	probably benign	Het
Pink1	T	C	4: 138,314,020	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119	D338G	probably damaging	Het
Prss8	G	T	7: 127,929,858	L9I	probably benign	Het
Ptpn22	G	A	3: 103,876,738		probably null	Het
Rad54b	A	C	4: 11,601,693	N416T	probably damaging	Het
Rasef	A	G	4: 73,744,114	S200P	possibly damaging	Het
Rb1	T	A	14: 73,212,990	K645*	probably null	Het
Robo2	C	T	16: 73,899,154	G1367D	probably benign	Het
Rp1	A	G	1: 4,352,671	V52A	probably damaging	Het
Samd13	T	C	3: 146,662,712	T23A	probably benign	Het
Scn7a	T	C	2: 66,699,973	H676R	probably damaging	Het
Serpinb6b	A	G	13: 32,978,240	I222V	probably benign	Het
Slc2a8	T	C	2: 32,980,079	Y150C	probably damaging	Het
Slc7a6os	C	A	8: 106,210,564	R88L	probably damaging	Het
Slc8a2	A	G	7: 16,152,920	I657V	probably benign	Het
Slit2	C	A	5: 48,191,016		probably benign	Het
Spire2	A	G	8: 123,363,071	D447G	probably benign	Het
Sptlc3	A	G	2: 139,566,675	N237D	possibly damaging	Het
Stk3	G	A	15: 35,073,217	T119I	probably damaging	Het
Suv39h2	G	A	2: 3,464,316	T334I	probably damaging	Het
Syt5	G	T	7: 4,540,279	T327N	probably damaging	Het
Tcof1	T	C	18: 60,816,084	D1253G	possibly damaging	Het
Tnks	A	T	8: 34,875,232	V388D	probably damaging	Het
Ugt2b1	T	C	5: 86,926,000	T167A	probably benign	Het
Usp40	G	A	1: 87,995,842	R236C	possibly damaging	Het
Vmn1r226	T	C	17: 20,687,580	S25P	probably damaging	Het
Vmn2r23	T	C	6: 123,713,010	S282P	possibly damaging	Het
Vps45	T	C	3: 96,046,440	E200G	probably benign	Het
Wnt7b	T	A	15: 85,559,080	I41F	probably damaging	Het
Zmym6	T	A	4: 127,103,414	N275K	probably damaging	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
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
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	12,621,379 (GRCm38)	missense	probably benign	0.17
R9653:Utrn	UTSW	10	12,663,445 (GRCm38)	missense	probably benign	0.41
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'- AAGGCGATGATGATAGTGCCC -3'
(R):5'- AGGATCAGTTCATGAGTTGGCC -3'

Sequencing Primer
(F):5'- GTGCCCAGTTTATTATCAATGTGC -3'
(R):5'- TCATGAGTTGGCCAGTCAAGC -3'

Posted On

2014-07-14