Mutagenetix > Incidental Mutation

Incidental Mutation 'R9393:Myh13'

710689

Institutional Source

Beutler Lab

Gene Symbol

Myh13

Ensembl Gene

ENSMUSG00000060180

Gene Name

myosin, heavy polypeptide 13, skeletal muscle

Synonyms

EO Myosin, extraocular myosin, MyHC-eo

MMRRC Submission

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R9393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67352068 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 936 (M936L)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081911] [ENSMUST00000108684] [ENSMUST00000180845]

AlphaFold

B1AR69

Predicted Effect

probably benign
Transcript: ENSMUST00000081911
AA Change: M936L

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

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: M936L

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	74	8e-13	PFAM
MYSc	80	783	N/A	SMART
IQ	784	806	4.6e-1	SMART
Pfam:Myosin_tail_1	847	1928	4.6e-159	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108684
AA Change: M936L

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

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: M936L

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	2.8e-14	PFAM
MYSc	80	783	N/A	SMART
IQ	784	806	4.6e-1	SMART
low complexity region	847	858	N/A	INTRINSIC
low complexity region	925	940	N/A	INTRINSIC
Pfam:Myosin_tail_1	1072	1930	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180845
AA Change: M936L

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

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: M936L

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	2.8e-14	PFAM
MYSc	80	783	N/A	SMART
IQ	784	806	4.6e-1	SMART
low complexity region	847	858	N/A	INTRINSIC
low complexity region	925	940	N/A	INTRINSIC
Pfam:Myosin_tail_1	1072	1930	N/A	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190007I07Rik	A	G	10: 82,622,641	S59P	unknown	Het
4933406M09Rik	A	G	1: 134,390,858	D456G	probably benign	Het
A2m	A	G	6: 121,639,311	S133G	possibly damaging	Het
Agps	A	G	2: 75,904,912	E567G	possibly damaging	Het
Ak9	T	C	10: 41,409,072	I1381T	unknown	Het
Apcdd1	C	T	18: 62,922,660		probably benign	Het
Arrb1	T	A	7: 99,589,684	C150S	probably damaging	Het
Asz1	T	C	6: 18,051,331	I450V	probably benign	Het
Atp10b	A	G	11: 43,172,781	N181S	probably damaging	Het
Bptf	A	C	11: 107,074,308	D1353E	probably benign	Het
Cacna2d1	T	C	5: 15,935,015	M1T	probably null	Het
Ccdc106	T	A	7: 5,056,201	I6N	possibly damaging	Het
Celf6	A	T	9: 59,603,242	Q252L	probably benign	Het
Colgalt2	A	T	1: 152,484,847	K212*	probably null	Het
Cryba4	T	C	5: 112,246,766	S166G	probably benign	Het
Cyp2w1	A	G	5: 139,356,280	E123G	probably benign	Het
Cyp4a10	G	C	4: 115,525,369	K285N	probably damaging	Het
Cyth1	G	T	11: 118,183,884	T197K	probably benign	Het
Ddhd1	A	G	14: 45,657,228	W262R	probably damaging	Het
Dnah8	T	A	17: 30,653,387	V450D	possibly damaging	Het
Eml5	C	T	12: 98,876,174	V222I	probably benign	Het
Fam160b2	G	A	14: 70,594,023	Q24*	probably null	Het
Fbxw19	A	G	9: 109,495,805	S15P	probably damaging	Het
Fignl2	C	A	15: 101,053,585	R272L	unknown	Het
Gm10842	A	T	11: 105,147,059	D56V	unknown	Het
Gm21818	A	T	13: 120,173,422	Y80F	probably benign	Het
Gmps	T	A	3: 63,993,219	N305K	probably benign	Het
Gnai1	A	T	5: 18,360,057	L38Q		Het
Golim4	A	T	3: 75,878,157	D642E	probably benign	Het
Gp1ba	A	T	11: 70,640,467	Q353L	unknown	Het
Gpnmb	T	C	6: 49,048,062	S343P	possibly damaging	Het
Hexb	G	A	13: 97,176,828	R507*	probably null	Het
Ifitm10	A	T	7: 142,370,967	V45D	probably damaging	Het
Khsrp	T	C	17: 57,023,350	Y585C	probably damaging	Het
Kif21a	A	T	15: 90,969,778	D795E	probably benign	Het
Klkb1	A	T	8: 45,276,355	V309E	probably benign	Het
Krtap9-1	C	A	11: 99,873,838	C133*	probably null	Het
Krtcap2	T	C	3: 89,246,271		probably benign	Het
Lilra5	T	C	7: 4,237,759	M1T	probably null	Het
Magi1	G	A	6: 93,682,909	T1019I	probably benign	Het
Mdn1	T	A	4: 32,713,825	H1967Q		Het
Mroh2b	A	T	15: 4,951,184	T1412S	probably benign	Het
Ncapd3	A	G	9: 27,051,386	T373A	possibly damaging	Het
Noc2l	T	C	4: 156,236,327		probably null	Het
Nrg4	C	T	9: 55,242,136	S59N	probably benign	Het
Nrip1	A	G	16: 76,294,465	V68A	probably benign	Het
Olfr739	T	C	14: 50,424,798	V93A	probably benign	Het
Olfr825	T	C	10: 130,163,147	T60A	probably benign	Het
Pcdhga6	G	T	18: 37,707,159		probably benign	Het
Phf20l1	A	G	15: 66,604,106	N196S	probably damaging	Het
Ppp4r4	T	A	12: 103,605,037	Y787*	probably null	Het
Psma8	G	A	18: 14,706,241	R4Q	probably null	Het
Reg4	A	G	3: 98,229,852	K46E	probably benign	Het
Rnf14	T	A	18: 38,309,627	M327K	possibly damaging	Het
Rtn1	A	T	12: 72,216,812	Y753*	probably null	Het
Slc26a11	A	G	11: 119,368,801	R275G	probably benign	Het
Stard9	A	G	2: 120,688,175	T527A	possibly damaging	Het
Stk26	C	T	X: 50,841,741		probably benign	Het
Tas1r1	C	T	4: 152,031,956	C407Y	probably damaging	Het
Tenm3	A	G	8: 48,674,524	S40P	probably damaging	Het
Tespa1	T	A	10: 130,347,197	S4T	probably damaging	Het
Tlr11	A	G	14: 50,362,090	N511S	probably benign	Het
Tmem28	C	T	X: 99,845,491	R321W	probably damaging	Het
Tmprss15	A	G	16: 78,957,323	I1014T	probably benign	Het
Tpte	T	A	8: 22,284,974	M20K	probably benign	Het
Ttn	A	G	2: 76,782,046	V17199A	possibly damaging	Het
Tubgcp3	A	G	8: 12,653,411	Y305H	probably damaging	Het
Ubr4	T	A	4: 139,485,302	V5081E	unknown	Het
Unkl	T	C	17: 25,229,418	S322P	probably damaging	Het
Vav3	T	A	3: 109,578,366		probably null	Het
Vmn1r76	A	G	7: 11,930,838	S150P	probably benign	Het
Xpot	A	G	10: 121,609,695		probably null	Het
Xylt1	A	G	7: 117,643,679	I650V	probably benign	Het
Zan	C	A	5: 137,405,420	A3955S	unknown	Het

Other mutations in Myh13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Myh13	APN	11	67,342,488 (GRCm38)	missense	probably damaging	1.00
IGL00808:Myh13	APN	11	67,335,004 (GRCm38)	critical splice donor site	probably null
IGL00822:Myh13	APN	11	67,361,328 (GRCm38)	missense	probably damaging	0.98
IGL00823:Myh13	APN	11	67,355,947 (GRCm38)	missense	probably benign	0.00
IGL00945:Myh13	APN	11	67,348,006 (GRCm38)	missense	probably null	1.00
IGL01414:Myh13	APN	11	67,342,472 (GRCm38)	missense	probably benign	0.02
IGL01482:Myh13	APN	11	67,352,068 (GRCm38)	missense	probably benign
IGL01523:Myh13	APN	11	67,347,943 (GRCm38)	missense	possibly damaging	0.73
IGL01723:Myh13	APN	11	67,369,219 (GRCm38)	unclassified	probably benign
IGL01997:Myh13	APN	11	67,367,166 (GRCm38)	missense	probably benign	0.14
IGL02369:Myh13	APN	11	67,360,274 (GRCm38)	unclassified	probably benign
IGL02478:Myh13	APN	11	67,369,378 (GRCm38)	missense	probably benign
IGL02663:Myh13	APN	11	67,354,927 (GRCm38)	nonsense	probably null
IGL02851:Myh13	APN	11	67,348,916 (GRCm38)	missense	possibly damaging	0.92
IGL02863:Myh13	APN	11	67,332,541 (GRCm38)	missense	probably damaging	1.00
IGL02929:Myh13	APN	11	67,367,165 (GRCm38)	missense	probably damaging	1.00
IGL02979:Myh13	APN	11	67,334,962 (GRCm38)	missense	possibly damaging	0.72
IGL03065:Myh13	APN	11	67,344,853 (GRCm38)	missense	probably damaging	0.99
IGL03214:Myh13	APN	11	67,353,585 (GRCm38)	missense	possibly damaging	0.79
IGL03223:Myh13	APN	11	67,350,242 (GRCm38)	missense	probably benign	0.39
IGL03231:Myh13	APN	11	67,351,991 (GRCm38)	missense	possibly damaging	0.94
IGL03407:Myh13	APN	11	67,352,152 (GRCm38)	missense	probably damaging	1.00
3-1:Myh13	UTSW	11	67,351,951 (GRCm38)	splice site	probably benign
P0042:Myh13	UTSW	11	67,334,991 (GRCm38)	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67,367,237 (GRCm38)	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67,367,237 (GRCm38)	missense	probably benign	0.00
R0379:Myh13	UTSW	11	67,369,295 (GRCm38)	unclassified	probably benign
R0496:Myh13	UTSW	11	67,348,815 (GRCm38)	missense	probably damaging	1.00
R0584:Myh13	UTSW	11	67,360,374 (GRCm38)	nonsense	probably null
R0595:Myh13	UTSW	11	67,344,846 (GRCm38)	missense	probably benign	0.03
R0621:Myh13	UTSW	11	67,341,232 (GRCm38)	missense	probably damaging	0.98
R0834:Myh13	UTSW	11	67,349,610 (GRCm38)	missense	possibly damaging	0.88
R0893:Myh13	UTSW	11	67,334,601 (GRCm38)	missense	probably damaging	1.00
R0964:Myh13	UTSW	11	67,345,002 (GRCm38)	missense	probably benign	0.02
R0973:Myh13	UTSW	11	67,332,520 (GRCm38)	missense	probably damaging	1.00
R0973:Myh13	UTSW	11	67,332,520 (GRCm38)	missense	probably damaging	1.00
R0974:Myh13	UTSW	11	67,332,520 (GRCm38)	missense	probably damaging	1.00
R1028:Myh13	UTSW	11	67,356,181 (GRCm38)	missense	possibly damaging	0.71
R1112:Myh13	UTSW	11	67,354,750 (GRCm38)	missense	probably damaging	1.00
R1283:Myh13	UTSW	11	67,370,921 (GRCm38)	missense	probably damaging	1.00
R1288:Myh13	UTSW	11	67,353,718 (GRCm38)	missense	probably benign	0.00
R1386:Myh13	UTSW	11	67,370,950 (GRCm38)	missense	possibly damaging	0.79
R1457:Myh13	UTSW	11	67,331,046 (GRCm38)	missense	probably damaging	0.97
R1503:Myh13	UTSW	11	67,353,674 (GRCm38)	missense	probably benign	0.43
R1574:Myh13	UTSW	11	67,362,581 (GRCm38)	unclassified	probably benign
R1673:Myh13	UTSW	11	67,352,119 (GRCm38)	missense	possibly damaging	0.79
R1693:Myh13	UTSW	11	67,341,484 (GRCm38)	missense	possibly damaging	0.95
R1763:Myh13	UTSW	11	67,334,576 (GRCm38)	missense	probably benign
R2029:Myh13	UTSW	11	67,361,289 (GRCm38)	missense	probably benign	0.03
R2030:Myh13	UTSW	11	67,350,238 (GRCm38)	missense	probably benign
R2247:Myh13	UTSW	11	67,334,558 (GRCm38)	missense	probably damaging	0.96
R2393:Myh13	UTSW	11	67,340,358 (GRCm38)	missense	possibly damaging	0.93
R2395:Myh13	UTSW	11	67,364,922 (GRCm38)	missense	probably benign	0.12
R2884:Myh13	UTSW	11	67,337,643 (GRCm38)	missense	probably benign	0.27
R3696:Myh13	UTSW	11	67,345,044 (GRCm38)	missense	possibly damaging	0.55
R3786:Myh13	UTSW	11	67,327,188 (GRCm38)	missense	probably benign	0.01
R3875:Myh13	UTSW	11	67,358,194 (GRCm38)	missense	probably benign	0.26
R3918:Myh13	UTSW	11	67,329,238 (GRCm38)	missense	probably benign	0.00
R4061:Myh13	UTSW	11	67,330,889 (GRCm38)	missense	possibly damaging	0.71
R4160:Myh13	UTSW	11	67,364,810 (GRCm38)	intron	probably benign
R4183:Myh13	UTSW	11	67,349,610 (GRCm38)	missense	possibly damaging	0.88
R4392:Myh13	UTSW	11	67,344,881 (GRCm38)	splice site	probably null
R4639:Myh13	UTSW	11	67,341,551 (GRCm38)	missense	possibly damaging	0.91
R4670:Myh13	UTSW	11	67,364,738 (GRCm38)	nonsense	probably null
R4783:Myh13	UTSW	11	67,341,270 (GRCm38)	missense	probably damaging	1.00
R4877:Myh13	UTSW	11	67,337,651 (GRCm38)	missense	probably damaging	0.99
R5250:Myh13	UTSW	11	67,327,259 (GRCm38)	nonsense	probably null
R5278:Myh13	UTSW	11	67,334,564 (GRCm38)	missense	probably benign	0.00
R5371:Myh13	UTSW	11	67,344,790 (GRCm38)	splice site	probably null
R5479:Myh13	UTSW	11	67,348,822 (GRCm38)	missense	probably damaging	0.97
R5510:Myh13	UTSW	11	67,337,723 (GRCm38)	missense	probably benign	0.05
R5690:Myh13	UTSW	11	67,329,275 (GRCm38)	missense	probably damaging	1.00
R5797:Myh13	UTSW	11	67,335,002 (GRCm38)	missense	possibly damaging	0.66
R5823:Myh13	UTSW	11	67,360,468 (GRCm38)	missense	probably damaging	1.00
R5877:Myh13	UTSW	11	67,353,658 (GRCm38)	missense	possibly damaging	0.78
R6041:Myh13	UTSW	11	67,364,730 (GRCm38)	missense	probably damaging	1.00
R6175:Myh13	UTSW	11	67,354,762 (GRCm38)	missense	probably benign	0.00
R6244:Myh13	UTSW	11	67,362,501 (GRCm38)	missense	probably benign	0.00
R6454:Myh13	UTSW	11	67,350,365 (GRCm38)	missense	probably benign	0.03
R6617:Myh13	UTSW	11	67,361,400 (GRCm38)	missense	probably benign	0.00
R6707:Myh13	UTSW	11	67,350,260 (GRCm38)	missense	probably damaging	1.00
R6747:Myh13	UTSW	11	67,350,419 (GRCm38)	missense	probably damaging	0.99
R6823:Myh13	UTSW	11	67,356,158 (GRCm38)	missense	probably benign
R6911:Myh13	UTSW	11	67,354,927 (GRCm38)	nonsense	probably null
R6997:Myh13	UTSW	11	67,327,154 (GRCm38)	nonsense	probably null
R7033:Myh13	UTSW	11	67,369,316 (GRCm38)	missense	possibly damaging	0.92
R7145:Myh13	UTSW	11	67,354,740 (GRCm38)	missense	probably benign	0.08
R7232:Myh13	UTSW	11	67,348,846 (GRCm38)	missense	probably damaging	1.00
R7428:Myh13	UTSW	11	67,332,564 (GRCm38)	missense	probably damaging	1.00
R7448:Myh13	UTSW	11	67,364,460 (GRCm38)	critical splice acceptor site	probably null
R7474:Myh13	UTSW	11	67,367,711 (GRCm38)	missense
R7474:Myh13	UTSW	11	67,327,164 (GRCm38)	missense	possibly damaging	0.93
R7766:Myh13	UTSW	11	67,358,329 (GRCm38)	missense	probably benign	0.37
R7809:Myh13	UTSW	11	67,350,341 (GRCm38)	missense	probably benign	0.14
R7813:Myh13	UTSW	11	67,327,230 (GRCm38)	missense	probably benign	0.27
R7953:Myh13	UTSW	11	67,340,380 (GRCm38)	missense	probably damaging	1.00
R8085:Myh13	UTSW	11	67,334,787 (GRCm38)	missense	probably benign	0.00
R8397:Myh13	UTSW	11	67,350,287 (GRCm38)	missense	possibly damaging	0.62
R8434:Myh13	UTSW	11	67,363,185 (GRCm38)	critical splice acceptor site	probably null
R8490:Myh13	UTSW	11	67,364,525 (GRCm38)	missense	probably damaging	0.98
R8676:Myh13	UTSW	11	67,342,485 (GRCm38)	missense	probably damaging	1.00
R8681:Myh13	UTSW	11	67,352,134 (GRCm38)	missense	possibly damaging	0.49
R8777:Myh13	UTSW	11	67,361,335 (GRCm38)	missense	possibly damaging	0.92
R8777-TAIL:Myh13	UTSW	11	67,361,335 (GRCm38)	missense	possibly damaging	0.92
R8965:Myh13	UTSW	11	67,364,606 (GRCm38)	missense	probably benign	0.00
R9088:Myh13	UTSW	11	67,352,059 (GRCm38)	missense	probably damaging	1.00
R9151:Myh13	UTSW	11	67,361,323 (GRCm38)	missense	probably damaging	1.00
R9154:Myh13	UTSW	11	67,362,492 (GRCm38)	missense	probably benign
R9182:Myh13	UTSW	11	67,337,753 (GRCm38)	missense	probably damaging	1.00
R9332:Myh13	UTSW	11	67,363,283 (GRCm38)	missense	possibly damaging	0.57
R9446:Myh13	UTSW	11	67,364,499 (GRCm38)	missense	probably benign	0.01
R9474:Myh13	UTSW	11	67,364,886 (GRCm38)	missense
R9690:Myh13	UTSW	11	67,358,368 (GRCm38)	missense	probably damaging	1.00
R9761:Myh13	UTSW	11	67,360,468 (GRCm38)	missense	probably damaging	1.00
R9778:Myh13	UTSW	11	67,358,190 (GRCm38)	missense	probably damaging	0.98
Z1176:Myh13	UTSW	11	67,329,295 (GRCm38)	missense	possibly damaging	0.93
Z1177:Myh13	UTSW	11	67,364,591 (GRCm38)	missense	possibly damaging	0.93
Z1177:Myh13	UTSW	11	67,350,452 (GRCm38)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TTCTCAGCTCAGCTTAGGTGC -3'
(R):5'- CTTCTAGGTGATGAGTGAAGGC -3'

Sequencing Primer
(F):5'- AGGGTCAGGCTCTTTCTTTCCAG -3'
(R):5'- TGATGAGTGAAGGCTGGCG -3'

Posted On

2022-04-18