Mutagenetix > Incidental Mutation

Incidental Mutation 'R8681:Myh13'

661762

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

068536-MU

Accession Numbers

Genbank: NM_001081250; MGI: 1339967

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R8681 (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 C at 67352134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 958 (I958L)

Ref Sequence

ENSEMBL: ENSMUSP00000080584 (fasta)

Gene Model

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

AlphaFold

B1AR69

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081911
AA Change: I958L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: I958L

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: I958L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: I958L

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: I958L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: I958L

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: 99.2%
20x: 97.0%

Validation Efficiency

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	C	13: 63,190,559	F583S	probably damaging	Het
A430078G23Rik	A	G	8: 3,389,074	Y477C	unknown	Het
Abcc12	A	G	8: 86,505,279	V1347A	possibly damaging	Het
Adam32	G	A	8: 24,837,795	T750I	unknown	Het
Adcy1	T	C	11: 7,161,328	I873T	probably damaging	Het
Aebp1	A	G	11: 5,867,899	D438G	probably null	Het
Anks1b	T	A	10: 90,050,006	M188K	probably damaging	Het
Ccdc114	A	G	7: 45,941,839	E246G	probably damaging	Het
Cep112	T	C	11: 108,425,652		probably null	Het
Clu	T	C	14: 65,980,957	V422A	probably damaging	Het
Cntrl	T	C	2: 35,148,588	L1050P	probably damaging	Het
Col23a1	A	T	11: 51,567,929	T298S	possibly damaging	Het
Cyp26c1	A	T	19: 37,686,617	T129S	probably damaging	Het
Cyp2c38	A	C	19: 39,401,691	V355G	possibly damaging	Het
Cyp4a30b	G	A	4: 115,457,745	V175M	possibly damaging	Het
Cyp7a1	A	T	4: 6,271,207	N316K	probably benign	Het
Dcaf17	T	A	2: 71,056,569	Y67*	probably null	Het
Dll3	T	C	7: 28,294,845	D389G	probably damaging	Het
Fbxo33	A	G	12: 59,219,044	F146L	probably benign	Het
Gm10118	C	T	10: 63,926,977	V61M	unknown	Het
Gm9611	T	C	14: 42,296,069	D102G		Het
Grik5	G	A	7: 25,010,472	A946V	probably benign	Het
Il17c	A	G	8: 122,423,468	D150G	possibly damaging	Het
Ino80e	A	G	7: 126,861,721	L22P	probably damaging	Het
Kcnh2	G	T	5: 24,331,983	T201K	probably benign	Het
Klrb1	A	C	6: 128,710,049	N173K	possibly damaging	Het
Kmt2d	T	A	15: 98,846,067	Q3737H	unknown	Het
Lemd3	T	C	10: 120,931,823	D682G	possibly damaging	Het
Lilra5	T	C	7: 4,238,217	V51A	probably benign	Het
Lrrc25	G	A	8: 70,617,664	V32I	possibly damaging	Het
Mdh1b	T	A	1: 63,715,201	M403L	probably benign	Het
Mms19	G	A	19: 41,949,476	L765F	probably damaging	Het
Msx3	T	A	7: 140,048,987	T5S	probably benign	Het
Myo18b	T	A	5: 112,873,563		probably null	Het
Myo9a	G	A	9: 59,868,111	V1002I	probably benign	Het
Neb	T	C	2: 52,237,036	K379R	probably damaging	Het
Nsmce2	A	G	15: 59,601,359	S216G	probably benign	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr746	A	T	14: 50,653,344	M36L	probably benign	Het
Pkp2	A	T	16: 16,230,681	M317L	probably benign	Het
Pogz	T	A	3: 94,860,923	H137Q	probably damaging	Het
Prrx2	G	T	2: 30,845,507	D25Y	unknown	Het
Ptprf	T	C	4: 118,231,647	D653G	probably benign	Het
Rps6kl1	T	A	12: 85,147,855	E94V	probably damaging	Het
Slc44a1	A	T	4: 53,481,510	D27V	probably damaging	Het
Slc44a4	A	G	17: 34,928,277	I549V	possibly damaging	Het
Slc8a3	T	C	12: 81,315,140	T302A	probably benign	Het
Spic	T	A	10: 88,675,985	K136N	possibly damaging	Het
Stk36	T	C	1: 74,622,233	L473P	probably damaging	Het
Syce1	G	A	7: 140,782,074	T32I	possibly damaging	Het
Tars2	G	A	3: 95,750,887	Q209*	probably null	Het
Tmem9b	A	G	7: 109,745,320	V100A	probably benign	Het
Vmn1r67	A	G	7: 10,447,201	I131V	probably benign	Het
Vmn2r26	C	T	6: 124,024,918	T54I	probably benign	Het
Zfp142	T	C	1: 74,571,588	E1016G	probably damaging	Het
Zfp773	T	C	7: 7,136,483	T56A	possibly damaging	Het

Other mutations in Myh13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Myh13	APN	11	67342488	missense	probably damaging	1.00
IGL00808:Myh13	APN	11	67335004	critical splice donor site	probably null
IGL00822:Myh13	APN	11	67361328	missense	probably damaging	0.98
IGL00823:Myh13	APN	11	67355947	missense	probably benign	0.00
IGL00945:Myh13	APN	11	67348006	missense	probably null	1.00
IGL01414:Myh13	APN	11	67342472	missense	probably benign	0.02
IGL01482:Myh13	APN	11	67352068	missense	probably benign
IGL01523:Myh13	APN	11	67347943	missense	possibly damaging	0.73
IGL01723:Myh13	APN	11	67369219	unclassified	probably benign
IGL01997:Myh13	APN	11	67367166	missense	probably benign	0.14
IGL02369:Myh13	APN	11	67360274	unclassified	probably benign
IGL02478:Myh13	APN	11	67369378	missense	probably benign
IGL02663:Myh13	APN	11	67354927	nonsense	probably null
IGL02851:Myh13	APN	11	67348916	missense	possibly damaging	0.92
IGL02863:Myh13	APN	11	67332541	missense	probably damaging	1.00
IGL02929:Myh13	APN	11	67367165	missense	probably damaging	1.00
IGL02979:Myh13	APN	11	67334962	missense	possibly damaging	0.72
IGL03065:Myh13	APN	11	67344853	missense	probably damaging	0.99
IGL03214:Myh13	APN	11	67353585	missense	possibly damaging	0.79
IGL03223:Myh13	APN	11	67350242	missense	probably benign	0.39
IGL03231:Myh13	APN	11	67351991	missense	possibly damaging	0.94
IGL03407:Myh13	APN	11	67352152	missense	probably damaging	1.00
3-1:Myh13	UTSW	11	67351951	splice site	probably benign
P0042:Myh13	UTSW	11	67334991	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67367237	missense	probably benign	0.00
R0047:Myh13	UTSW	11	67367237	missense	probably benign	0.00
R0379:Myh13	UTSW	11	67369295	unclassified	probably benign
R0496:Myh13	UTSW	11	67348815	missense	probably damaging	1.00
R0584:Myh13	UTSW	11	67360374	nonsense	probably null
R0595:Myh13	UTSW	11	67344846	missense	probably benign	0.03
R0621:Myh13	UTSW	11	67341232	missense	probably damaging	0.98
R0834:Myh13	UTSW	11	67349610	missense	possibly damaging	0.88
R0893:Myh13	UTSW	11	67334601	missense	probably damaging	1.00
R0964:Myh13	UTSW	11	67345002	missense	probably benign	0.02
R0973:Myh13	UTSW	11	67332520	missense	probably damaging	1.00
R0973:Myh13	UTSW	11	67332520	missense	probably damaging	1.00
R0974:Myh13	UTSW	11	67332520	missense	probably damaging	1.00
R1028:Myh13	UTSW	11	67356181	missense	possibly damaging	0.71
R1112:Myh13	UTSW	11	67354750	missense	probably damaging	1.00
R1283:Myh13	UTSW	11	67370921	missense	probably damaging	1.00
R1288:Myh13	UTSW	11	67353718	missense	probably benign	0.00
R1386:Myh13	UTSW	11	67370950	missense	possibly damaging	0.79
R1457:Myh13	UTSW	11	67331046	missense	probably damaging	0.97
R1503:Myh13	UTSW	11	67353674	missense	probably benign	0.43
R1574:Myh13	UTSW	11	67362581	unclassified	probably benign
R1673:Myh13	UTSW	11	67352119	missense	possibly damaging	0.79
R1693:Myh13	UTSW	11	67341484	missense	possibly damaging	0.95
R1763:Myh13	UTSW	11	67334576	missense	probably benign
R2029:Myh13	UTSW	11	67361289	missense	probably benign	0.03
R2030:Myh13	UTSW	11	67350238	missense	probably benign
R2247:Myh13	UTSW	11	67334558	missense	probably damaging	0.96
R2393:Myh13	UTSW	11	67340358	missense	possibly damaging	0.93
R2395:Myh13	UTSW	11	67364922	missense	probably benign	0.12
R2884:Myh13	UTSW	11	67337643	missense	probably benign	0.27
R3696:Myh13	UTSW	11	67345044	missense	possibly damaging	0.55
R3786:Myh13	UTSW	11	67327188	missense	probably benign	0.01
R3875:Myh13	UTSW	11	67358194	missense	probably benign	0.26
R3918:Myh13	UTSW	11	67329238	missense	probably benign	0.00
R4061:Myh13	UTSW	11	67330889	missense	possibly damaging	0.71
R4160:Myh13	UTSW	11	67364810	intron	probably benign
R4183:Myh13	UTSW	11	67349610	missense	possibly damaging	0.88
R4392:Myh13	UTSW	11	67344881	splice site	probably null
R4639:Myh13	UTSW	11	67341551	missense	possibly damaging	0.91
R4670:Myh13	UTSW	11	67364738	nonsense	probably null
R4783:Myh13	UTSW	11	67341270	missense	probably damaging	1.00
R4877:Myh13	UTSW	11	67337651	missense	probably damaging	0.99
R5250:Myh13	UTSW	11	67327259	nonsense	probably null
R5278:Myh13	UTSW	11	67334564	missense	probably benign	0.00
R5371:Myh13	UTSW	11	67344790	splice site	probably null
R5479:Myh13	UTSW	11	67348822	missense	probably damaging	0.97
R5510:Myh13	UTSW	11	67337723	missense	probably benign	0.05
R5690:Myh13	UTSW	11	67329275	missense	probably damaging	1.00
R5797:Myh13	UTSW	11	67335002	missense	possibly damaging	0.66
R5823:Myh13	UTSW	11	67360468	missense	probably damaging	1.00
R5877:Myh13	UTSW	11	67353658	missense	possibly damaging	0.78
R6041:Myh13	UTSW	11	67364730	missense	probably damaging	1.00
R6175:Myh13	UTSW	11	67354762	missense	probably benign	0.00
R6244:Myh13	UTSW	11	67362501	missense	probably benign	0.00
R6454:Myh13	UTSW	11	67350365	missense	probably benign	0.03
R6617:Myh13	UTSW	11	67361400	missense	probably benign	0.00
R6707:Myh13	UTSW	11	67350260	missense	probably damaging	1.00
R6747:Myh13	UTSW	11	67350419	missense	probably damaging	0.99
R6823:Myh13	UTSW	11	67356158	missense	probably benign
R6911:Myh13	UTSW	11	67354927	nonsense	probably null
R6997:Myh13	UTSW	11	67327154	nonsense	probably null
R7033:Myh13	UTSW	11	67369316	missense	possibly damaging	0.92
R7145:Myh13	UTSW	11	67354740	missense	probably benign	0.08
R7232:Myh13	UTSW	11	67348846	missense	probably damaging	1.00
R7428:Myh13	UTSW	11	67332564	missense	probably damaging	1.00
R7448:Myh13	UTSW	11	67364460	critical splice acceptor site	probably null
R7474:Myh13	UTSW	11	67327164	missense	possibly damaging	0.93
R7474:Myh13	UTSW	11	67367711	missense
R7766:Myh13	UTSW	11	67358329	missense	probably benign	0.37
R7809:Myh13	UTSW	11	67350341	missense	probably benign	0.14
R7813:Myh13	UTSW	11	67327230	missense	probably benign	0.27
R7953:Myh13	UTSW	11	67340380	missense	probably damaging	1.00
R8085:Myh13	UTSW	11	67334787	missense	probably benign	0.00
R8397:Myh13	UTSW	11	67350287	missense	possibly damaging	0.62
R8434:Myh13	UTSW	11	67363185	critical splice acceptor site	probably null
R8490:Myh13	UTSW	11	67364525	missense	probably damaging	0.98
R8676:Myh13	UTSW	11	67342485	missense	probably damaging	1.00
R8777:Myh13	UTSW	11	67361335	missense	possibly damaging	0.92
R8777-TAIL:Myh13	UTSW	11	67361335	missense	possibly damaging	0.92
R8965:Myh13	UTSW	11	67364606	missense	probably benign	0.00
R9088:Myh13	UTSW	11	67352059	missense	probably damaging	1.00
R9151:Myh13	UTSW	11	67361323	missense	probably damaging	1.00
R9154:Myh13	UTSW	11	67362492	missense	probably benign
R9182:Myh13	UTSW	11	67337753	missense	probably damaging	1.00
R9332:Myh13	UTSW	11	67363283	missense	possibly damaging	0.57
R9393:Myh13	UTSW	11	67352068	missense	probably benign
R9446:Myh13	UTSW	11	67364499	missense	probably benign	0.01
R9474:Myh13	UTSW	11	67364886	missense
R9690:Myh13	UTSW	11	67358368	missense	probably damaging	1.00
R9761:Myh13	UTSW	11	67360468	missense	probably damaging	1.00
R9778:Myh13	UTSW	11	67358190	missense	probably damaging	0.98
Z1176:Myh13	UTSW	11	67329295	missense	possibly damaging	0.93
Z1177:Myh13	UTSW	11	67350452	missense	possibly damaging	0.55
Z1177:Myh13	UTSW	11	67364591	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ACTGATCAGAACTCACAGTGAC -3'
(R):5'- TGAGGAATCATACCTGGCAGC -3'

Sequencing Primer
(F):5'- TGACCCGTCTCTTTCAGGAAACAG -3'
(R):5'- GAATCATACCTGGCAGCTGCTTG -3'

Posted On

2021-03-08