Mutagenetix > Incidental Mutation

Incidental Mutation 'R9474:Myh13'

715661

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 #

R9474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67321658-67371586 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67364886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 34 (S34N)

Gene Model

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

AlphaFold

B1AR69

Predicted Effect

probably benign
Transcript: ENSMUST00000081911
AA Change: S1667N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: S1667N

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: S1667N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: S1667N

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: S1667N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: S1667N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	A	10: 79,067,731 (GRCm38)	K250N	probably damaging	Het
9530077C05Rik	T	C	9: 22,431,719 (GRCm38)	M303T	probably damaging	Het
Adam5	A	T	8: 24,747,524 (GRCm38)	D623E	possibly damaging	Het
Akt3	T	C	1: 177,025,386 (GRCm38)	Y473C	probably damaging	Het
Ankib1	A	G	5: 3,755,617 (GRCm38)	Y217H	probably damaging	Het
Clca4b	T	A	3: 144,911,166 (GRCm38)	T908S	probably benign	Het
Clec7a	G	A	6: 129,463,163 (GRCm38)	Q160*	probably null	Het
Cntnap4	T	A	8: 112,733,471 (GRCm38)	I152N	probably damaging	Het
Ctdspl	C	T	9: 119,037,377 (GRCm38)	A179V	probably damaging	Het
Ddx43	T	C	9: 78,406,386 (GRCm38)	S200P	probably damaging	Het
Dip2c	A	G	13: 9,494,927 (GRCm38)	D84G	unknown	Het
Dmbt1	G	A	7: 131,074,257 (GRCm38)	R625H	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611 (GRCm38)		probably benign	Het
E2f7	C	A	10: 110,779,057 (GRCm38)	L541M	probably damaging	Het
E2f7	C	T	10: 110,767,189 (GRCm38)	T355I	probably damaging	Het
Elovl5	T	A	9: 77,982,725 (GRCm38)	S273T	possibly damaging	Het
Emc1	T	A	4: 139,366,394 (GRCm38)	L605Q	probably damaging	Het
Fras1	T	A	5: 96,739,265 (GRCm38)	D2635E	probably benign	Het
Gabrb1	G	A	5: 72,108,347 (GRCm38)	G195E	probably damaging	Het
Galm	A	G	17: 80,150,132 (GRCm38)	D199G	possibly damaging	Het
Galntl6	T	G	8: 57,777,325 (GRCm38)	S20R	probably damaging	Het
Gm21671	A	T	5: 25,953,138 (GRCm38)	I72N	probably damaging	Het
Grb14	T	G	2: 64,938,400 (GRCm38)	Y189S	probably damaging	Het
Hk2	T	A	6: 82,728,914 (GRCm38)	I803F	probably damaging	Het
Hmcn1	G	A	1: 150,630,720 (GRCm38)	R3779W	probably damaging	Het
Hmgcr	A	C	13: 96,659,895 (GRCm38)	M260R	probably damaging	Het
Hsbp1l1	T	A	18: 80,233,424 (GRCm38)	K68N	possibly damaging	Het
Inhba	A	C	13: 16,017,678 (GRCm38)	E128A	probably benign	Het
Itpr3	G	A	17: 27,118,677 (GRCm38)		probably benign	Het
Klhl3	G	A	13: 58,019,459 (GRCm38)	P364S	probably damaging	Het
Lhpp	T	C	7: 132,641,583 (GRCm38)	L176P	probably damaging	Het
Lrp1b	C	A	2: 40,601,587 (GRCm38)	A223S	probably damaging	Het
Lrp3	A	G	7: 35,204,064 (GRCm38)	F286L	probably damaging	Het
Lrrc7	T	C	3: 158,135,391 (GRCm38)	T1337A	probably benign	Het
Magi2	A	G	5: 20,195,021 (GRCm38)	D17G	probably benign	Het
Map3k21	T	C	8: 125,924,164 (GRCm38)	S302P	probably damaging	Het
Mbtd1	A	G	11: 93,925,685 (GRCm38)	D386G	probably benign	Het
Mfsd2b	A	T	12: 4,866,820 (GRCm38)	D306E	possibly damaging	Het
Muc20	T	C	16: 32,794,083 (GRCm38)	E308G	probably damaging	Het
Nebl	C	A	2: 17,369,610 (GRCm38)	G894*	probably null	Het
Nelfa	A	G	5: 33,898,751 (GRCm38)	Y523H	probably damaging	Het
Ninj1	A	G	13: 49,187,600 (GRCm38)	D13G	probably benign	Het
Ninl	A	T	2: 150,940,806 (GRCm38)	S170T	probably benign	Het
Nlrp4c	G	A	7: 6,065,627 (GRCm38)	V176M	possibly damaging	Het
Nobox	G	A	6: 43,307,181 (GRCm38)	R144C	probably damaging	Het
Oas1a	G	A	5: 120,899,254 (GRCm38)	L237F	probably damaging	Het
Olfr1099	A	G	2: 86,959,413 (GRCm38)	M15T	probably benign	Het
Olfr1153	T	C	2: 87,896,349 (GRCm38)	M50T	probably benign	Het
Olfr1254	A	C	2: 89,789,162 (GRCm38)	Y63*	probably null	Het
Olfr1348	A	G	7: 6,502,151 (GRCm38)	L25P	probably benign	Het
Olfr1356	T	C	10: 78,847,057 (GRCm38)	N286S	probably damaging	Het
Olfr625-ps1	A	T	7: 103,683,270 (GRCm38)	Y184F	probably damaging	Het
Orai1	A	G	5: 123,029,238 (GRCm38)	N158S	probably damaging	Het
Pa2g4	C	A	10: 128,563,098 (GRCm38)	V121L	probably benign	Het
Pclo	T	C	5: 14,521,236 (GRCm38)	S212P	possibly damaging	Het
Plce1	G	A	19: 38,777,893 (GRCm38)	E2121K	possibly damaging	Het
Plg	A	G	17: 12,403,137 (GRCm38)	Y448C	probably damaging	Het
Plppr4	A	T	3: 117,323,217 (GRCm38)	N330K	probably damaging	Het
Pou2f2	A	G	7: 25,094,822 (GRCm38)	L373S	probably benign	Het
Rnpep	A	G	1: 135,283,603 (GRCm38)	F136L	probably benign	Het
Rp1	A	G	1: 4,092,615 (GRCm38)		probably null	Het
Shank1	G	A	7: 44,312,918 (GRCm38)	S71N	unknown	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 76,150,404 (GRCm38)		probably benign	Het
Slc5a5	T	C	8: 70,884,952 (GRCm38)	D574G	probably benign	Het
Slc7a15	T	A	12: 8,538,794 (GRCm38)	N251I	probably damaging	Het
Susd4	T	C	1: 182,892,100 (GRCm38)	S427P	probably benign	Het
Tarbp1	T	A	8: 126,429,040 (GRCm38)	T1320S	probably benign	Het
Tbpl2	C	T	2: 24,094,638 (GRCm38)	V166I	probably benign	Het
Thbs1	T	C	2: 118,120,037 (GRCm38)		probably null	Het
Tnfsf13b	A	G	8: 10,031,648 (GRCm38)	Y270C	probably damaging	Het
Vps11	G	T	9: 44,348,993 (GRCm38)	C857*	probably null	Het
Vsig10	G	A	5: 117,325,039 (GRCm38)	R110H	probably benign	Het
Wee2	T	A	6: 40,455,110 (GRCm38)	Y204*	probably null	Het
Zfpm2	T	A	15: 41,103,471 (GRCm38)	S1117R	probably damaging	Het
Zscan5b	A	G	7: 6,231,473 (GRCm38)	N166S	probably benign	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
R9393:Myh13	UTSW	11	67,352,068 (GRCm38)	missense	probably benign
R9446:Myh13	UTSW	11	67,364,499 (GRCm38)	missense	probably benign	0.01
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'- TGGAGGGTGATCTCAACGAG -3'
(R):5'- CTGAGTTGAGGAGGCAGCATAC -3'

Sequencing Primer
(F):5'- AGATTCAGCTGAGCCATGC -3'
(R):5'- CAGCATACCTGGGAATGGAGC -3'

Posted On

2022-06-15