Mutagenetix > Incidental Mutation

Incidental Mutation 'R3696:Myh13'

269828

Institutional Source

Beutler Lab

Gene Symbol

Myh13

Ensembl Gene

ENSMUSG00000060180

Gene Name

myosin, heavy polypeptide 13, skeletal muscle

Synonyms

EO Myosin, MyHC-eo, extraocular myosin

MMRRC Submission

040690-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R3696 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67217929-67262413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67235870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 678 (I678L)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

AlphaFold

B1AR69

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081911
AA Change: I678L

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: I678L

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

possibly damaging
Transcript: ENSMUST00000108684
AA Change: I678L

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: I678L

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

possibly damaging
Transcript: ENSMUST00000180845
AA Change: I678L

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: I678L

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

Meta Mutation Damage Score

0.1079

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (37/37)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh4a1	A	G	4: 139,369,562 (GRCm39)	H371R	possibly damaging	Het
Anapc4	A	G	5: 53,019,351 (GRCm39)	S562G	probably null	Het
Arfgef2	T	A	2: 166,695,220 (GRCm39)	L531*	probably null	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Cacna1s	A	G	1: 136,033,552 (GRCm39)	M1010V	probably damaging	Het
Chga	A	G	12: 102,527,724 (GRCm39)	E126G	probably damaging	Het
Ckap5	C	A	2: 91,450,511 (GRCm39)	T2014K	probably benign	Het
Dlat	C	T	9: 50,562,176 (GRCm39)	V283I	possibly damaging	Het
Emc1	T	G	4: 139,092,697 (GRCm39)	S546A	possibly damaging	Het
Ephx1	G	A	1: 180,817,516 (GRCm39)	S385L	probably benign	Het
Ermard	T	C	17: 15,273,638 (GRCm39)	S408P	probably benign	Het
Etl4	G	A	2: 20,806,473 (GRCm39)		probably null	Het
Hydin	T	C	8: 111,329,911 (GRCm39)	S4882P	probably damaging	Het
Il12a	TCAC	TC	3: 68,605,320 (GRCm39)		probably null	Het
Il6st	T	G	13: 112,640,916 (GRCm39)	D897E	probably benign	Het
Ipo5	A	C	14: 121,159,574 (GRCm39)	K134T	probably benign	Het
Itgb8	A	G	12: 119,140,746 (GRCm39)	V377A	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lama3	A	G	18: 12,572,532 (GRCm39)		probably benign	Het
Macf1	T	G	4: 123,350,155 (GRCm39)	T2027P	probably damaging	Het
Nfu1	A	G	6: 86,992,634 (GRCm39)	T83A	probably damaging	Het
Nid1	G	A	13: 13,661,344 (GRCm39)	C748Y	probably damaging	Het
Or1af1	C	T	2: 37,110,188 (GRCm39)	P229L	probably damaging	Het
Or5w15	T	C	2: 87,568,360 (GRCm39)	T103A	probably benign	Het
Prm3	T	C	16: 10,608,672 (GRCm39)	M28V	possibly damaging	Het
Rgs22	C	T	15: 36,100,038 (GRCm39)	V226I	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin4	A	T	11: 87,476,060 (GRCm39)	T212S	possibly damaging	Het
Trdn	T	A	10: 33,181,028 (GRCm39)		probably null	Het
Trim2	T	A	3: 84,098,158 (GRCm39)	Y390F	probably benign	Het
Vmn1r17	T	A	6: 57,337,523 (GRCm39)	I232F	possibly damaging	Het
Zfp30	A	T	7: 29,492,815 (GRCm39)	K356N	probably damaging	Het

Other mutations in Myh13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Myh13	APN	11	67,233,314 (GRCm39)	missense	probably damaging	1.00
IGL00808:Myh13	APN	11	67,225,830 (GRCm39)	critical splice donor site	probably null
IGL00822:Myh13	APN	11	67,252,154 (GRCm39)	missense	probably damaging	0.98
IGL00823:Myh13	APN	11	67,246,773 (GRCm39)	missense	probably benign	0.00
IGL00945:Myh13	APN	11	67,238,832 (GRCm39)	missense	probably null	1.00
IGL01414:Myh13	APN	11	67,233,298 (GRCm39)	missense	probably benign	0.02
IGL01482:Myh13	APN	11	67,242,894 (GRCm39)	missense	probably benign
IGL01523:Myh13	APN	11	67,238,769 (GRCm39)	missense	possibly damaging	0.73
IGL01723:Myh13	APN	11	67,260,045 (GRCm39)	unclassified	probably benign
IGL01997:Myh13	APN	11	67,257,992 (GRCm39)	missense	probably benign	0.14
IGL02369:Myh13	APN	11	67,251,100 (GRCm39)	unclassified	probably benign
IGL02478:Myh13	APN	11	67,260,204 (GRCm39)	missense	probably benign
IGL02663:Myh13	APN	11	67,245,753 (GRCm39)	nonsense	probably null
IGL02851:Myh13	APN	11	67,239,742 (GRCm39)	missense	possibly damaging	0.92
IGL02863:Myh13	APN	11	67,223,367 (GRCm39)	missense	probably damaging	1.00
IGL02929:Myh13	APN	11	67,257,991 (GRCm39)	missense	probably damaging	1.00
IGL02979:Myh13	APN	11	67,225,788 (GRCm39)	missense	possibly damaging	0.72
IGL03065:Myh13	APN	11	67,235,679 (GRCm39)	missense	probably damaging	0.99
IGL03214:Myh13	APN	11	67,244,411 (GRCm39)	missense	possibly damaging	0.79
IGL03223:Myh13	APN	11	67,241,068 (GRCm39)	missense	probably benign	0.39
IGL03231:Myh13	APN	11	67,242,817 (GRCm39)	missense	possibly damaging	0.94
IGL03407:Myh13	APN	11	67,242,978 (GRCm39)	missense	probably damaging	1.00
3-1:Myh13	UTSW	11	67,242,777 (GRCm39)	splice site	probably benign
P0042:Myh13	UTSW	11	67,225,817 (GRCm39)	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67,258,063 (GRCm39)	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67,258,063 (GRCm39)	missense	probably benign	0.00
R0379:Myh13	UTSW	11	67,260,121 (GRCm39)	unclassified	probably benign
R0496:Myh13	UTSW	11	67,239,641 (GRCm39)	missense	probably damaging	1.00
R0584:Myh13	UTSW	11	67,251,200 (GRCm39)	nonsense	probably null
R0595:Myh13	UTSW	11	67,235,672 (GRCm39)	missense	probably benign	0.03
R0621:Myh13	UTSW	11	67,232,058 (GRCm39)	missense	probably damaging	0.98
R0834:Myh13	UTSW	11	67,240,436 (GRCm39)	missense	possibly damaging	0.88
R0893:Myh13	UTSW	11	67,225,427 (GRCm39)	missense	probably damaging	1.00
R0964:Myh13	UTSW	11	67,235,828 (GRCm39)	missense	probably benign	0.02
R0973:Myh13	UTSW	11	67,223,346 (GRCm39)	missense	probably damaging	1.00
R0973:Myh13	UTSW	11	67,223,346 (GRCm39)	missense	probably damaging	1.00
R0974:Myh13	UTSW	11	67,223,346 (GRCm39)	missense	probably damaging	1.00
R1028:Myh13	UTSW	11	67,247,007 (GRCm39)	missense	possibly damaging	0.71
R1112:Myh13	UTSW	11	67,245,576 (GRCm39)	missense	probably damaging	1.00
R1283:Myh13	UTSW	11	67,261,747 (GRCm39)	missense	probably damaging	1.00
R1288:Myh13	UTSW	11	67,244,544 (GRCm39)	missense	probably benign	0.00
R1386:Myh13	UTSW	11	67,261,776 (GRCm39)	missense	possibly damaging	0.79
R1457:Myh13	UTSW	11	67,221,872 (GRCm39)	missense	probably damaging	0.97
R1503:Myh13	UTSW	11	67,244,500 (GRCm39)	missense	probably benign	0.43
R1574:Myh13	UTSW	11	67,253,407 (GRCm39)	unclassified	probably benign
R1673:Myh13	UTSW	11	67,242,945 (GRCm39)	missense	possibly damaging	0.79
R1693:Myh13	UTSW	11	67,232,310 (GRCm39)	missense	possibly damaging	0.95
R1763:Myh13	UTSW	11	67,225,402 (GRCm39)	missense	probably benign
R2029:Myh13	UTSW	11	67,252,115 (GRCm39)	missense	probably benign	0.03
R2030:Myh13	UTSW	11	67,241,064 (GRCm39)	missense	probably benign
R2247:Myh13	UTSW	11	67,225,384 (GRCm39)	missense	probably damaging	0.96
R2393:Myh13	UTSW	11	67,231,184 (GRCm39)	missense	possibly damaging	0.93
R2395:Myh13	UTSW	11	67,255,748 (GRCm39)	missense	probably benign	0.12
R2884:Myh13	UTSW	11	67,228,469 (GRCm39)	missense	probably benign	0.27
R3786:Myh13	UTSW	11	67,218,014 (GRCm39)	missense	probably benign	0.01
R3875:Myh13	UTSW	11	67,249,020 (GRCm39)	missense	probably benign	0.26
R3918:Myh13	UTSW	11	67,220,064 (GRCm39)	missense	probably benign	0.00
R4061:Myh13	UTSW	11	67,221,715 (GRCm39)	missense	possibly damaging	0.71
R4160:Myh13	UTSW	11	67,255,636 (GRCm39)	intron	probably benign
R4183:Myh13	UTSW	11	67,240,436 (GRCm39)	missense	possibly damaging	0.88
R4392:Myh13	UTSW	11	67,235,707 (GRCm39)	splice site	probably null
R4639:Myh13	UTSW	11	67,232,377 (GRCm39)	missense	possibly damaging	0.91
R4670:Myh13	UTSW	11	67,255,564 (GRCm39)	nonsense	probably null
R4783:Myh13	UTSW	11	67,232,096 (GRCm39)	missense	probably damaging	1.00
R4877:Myh13	UTSW	11	67,228,477 (GRCm39)	missense	probably damaging	0.99
R5250:Myh13	UTSW	11	67,218,085 (GRCm39)	nonsense	probably null
R5278:Myh13	UTSW	11	67,225,390 (GRCm39)	missense	probably benign	0.00
R5371:Myh13	UTSW	11	67,235,616 (GRCm39)	splice site	probably null
R5479:Myh13	UTSW	11	67,239,648 (GRCm39)	missense	probably damaging	0.97
R5510:Myh13	UTSW	11	67,228,549 (GRCm39)	missense	probably benign	0.05
R5690:Myh13	UTSW	11	67,220,101 (GRCm39)	missense	probably damaging	1.00
R5797:Myh13	UTSW	11	67,225,828 (GRCm39)	missense	possibly damaging	0.66
R5823:Myh13	UTSW	11	67,251,294 (GRCm39)	missense	probably damaging	1.00
R5877:Myh13	UTSW	11	67,244,484 (GRCm39)	missense	possibly damaging	0.78
R6041:Myh13	UTSW	11	67,255,556 (GRCm39)	missense	probably damaging	1.00
R6175:Myh13	UTSW	11	67,245,588 (GRCm39)	missense	probably benign	0.00
R6244:Myh13	UTSW	11	67,253,327 (GRCm39)	missense	probably benign	0.00
R6454:Myh13	UTSW	11	67,241,191 (GRCm39)	missense	probably benign	0.03
R6617:Myh13	UTSW	11	67,252,226 (GRCm39)	missense	probably benign	0.00
R6707:Myh13	UTSW	11	67,241,086 (GRCm39)	missense	probably damaging	1.00
R6747:Myh13	UTSW	11	67,241,245 (GRCm39)	missense	probably damaging	0.99
R6823:Myh13	UTSW	11	67,246,984 (GRCm39)	missense	probably benign
R6911:Myh13	UTSW	11	67,245,753 (GRCm39)	nonsense	probably null
R6997:Myh13	UTSW	11	67,217,980 (GRCm39)	nonsense	probably null
R7033:Myh13	UTSW	11	67,260,142 (GRCm39)	missense	possibly damaging	0.92
R7145:Myh13	UTSW	11	67,245,566 (GRCm39)	missense	probably benign	0.08
R7232:Myh13	UTSW	11	67,239,672 (GRCm39)	missense	probably damaging	1.00
R7428:Myh13	UTSW	11	67,223,390 (GRCm39)	missense	probably damaging	1.00
R7448:Myh13	UTSW	11	67,255,286 (GRCm39)	critical splice acceptor site	probably null
R7474:Myh13	UTSW	11	67,258,537 (GRCm39)	missense
R7474:Myh13	UTSW	11	67,217,990 (GRCm39)	missense	possibly damaging	0.93
R7766:Myh13	UTSW	11	67,249,155 (GRCm39)	missense	probably benign	0.37
R7809:Myh13	UTSW	11	67,241,167 (GRCm39)	missense	probably benign	0.14
R7813:Myh13	UTSW	11	67,218,056 (GRCm39)	missense	probably benign	0.27
R7953:Myh13	UTSW	11	67,231,206 (GRCm39)	missense	probably damaging	1.00
R8085:Myh13	UTSW	11	67,225,613 (GRCm39)	missense	probably benign	0.00
R8397:Myh13	UTSW	11	67,241,113 (GRCm39)	missense	possibly damaging	0.62
R8434:Myh13	UTSW	11	67,254,011 (GRCm39)	critical splice acceptor site	probably null
R8490:Myh13	UTSW	11	67,255,351 (GRCm39)	missense	probably damaging	0.98
R8676:Myh13	UTSW	11	67,233,311 (GRCm39)	missense	probably damaging	1.00
R8681:Myh13	UTSW	11	67,242,960 (GRCm39)	missense	possibly damaging	0.49
R8777:Myh13	UTSW	11	67,252,161 (GRCm39)	missense	possibly damaging	0.92
R8777-TAIL:Myh13	UTSW	11	67,252,161 (GRCm39)	missense	possibly damaging	0.92
R8965:Myh13	UTSW	11	67,255,432 (GRCm39)	missense	probably benign	0.00
R9088:Myh13	UTSW	11	67,242,885 (GRCm39)	missense	probably damaging	1.00
R9151:Myh13	UTSW	11	67,252,149 (GRCm39)	missense	probably damaging	1.00
R9154:Myh13	UTSW	11	67,253,318 (GRCm39)	missense	probably benign
R9182:Myh13	UTSW	11	67,228,579 (GRCm39)	missense	probably damaging	1.00
R9332:Myh13	UTSW	11	67,254,109 (GRCm39)	missense	possibly damaging	0.57
R9393:Myh13	UTSW	11	67,242,894 (GRCm39)	missense	probably benign
R9446:Myh13	UTSW	11	67,255,325 (GRCm39)	missense	probably benign	0.01
R9474:Myh13	UTSW	11	67,255,712 (GRCm39)	missense
R9690:Myh13	UTSW	11	67,249,194 (GRCm39)	missense	probably damaging	1.00
R9761:Myh13	UTSW	11	67,251,294 (GRCm39)	missense	probably damaging	1.00
R9778:Myh13	UTSW	11	67,249,016 (GRCm39)	missense	probably damaging	0.98
Z1176:Myh13	UTSW	11	67,220,121 (GRCm39)	missense	possibly damaging	0.93
Z1177:Myh13	UTSW	11	67,255,417 (GRCm39)	missense	possibly damaging	0.93
Z1177:Myh13	UTSW	11	67,241,278 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- GAAAGAAGAAGGGCTCCTCC -3'
(R):5'- AGATGGCCCAAGGAGAGTTC -3'

Sequencing Primer
(F):5'- AAGGGCTCCTCCTTCCAGAC -3'
(R):5'- CCCAAGGAGAGTTCTGTATTGCC -3'

Posted On

2015-03-18