Mutagenetix > Incidental Mutation

Incidental Mutation 'R0621:Myh13'

58681

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

038810-MU

Accession Numbers

Essential gene?

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

Stock #

R0621 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67217929-67262413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67232058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 446 (N446T)

Ref Sequence

ENSEMBL: ENSMUSP00000137731 (fasta)

Gene Model

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

AlphaFold

B1AR69

Predicted Effect

probably damaging
Transcript: ENSMUST00000081911
AA Change: N446T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080584
Gene: ENSMUSG00000060180
AA Change: N446T

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 damaging
Transcript: ENSMUST00000108684
AA Change: N446T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104324
Gene: ENSMUSG00000060180
AA Change: N446T

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 damaging
Transcript: ENSMUST00000180845
AA Change: N446T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137731
Gene: ENSMUSG00000060180
AA Change: N446T

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: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	T	C	11: 76,399,898 (GRCm39)	D33G	probably damaging	Het
Adgre1	T	A	17: 57,748,359 (GRCm39)	S520T	probably damaging	Het
Afg2a	C	T	3: 37,486,178 (GRCm39)	T300I	probably benign	Het
Ankrd40	A	G	11: 94,230,433 (GRCm39)		probably null	Het
Aph1b	A	T	9: 66,686,616 (GRCm39)	I177K	possibly damaging	Het
Armc3	A	T	2: 19,300,204 (GRCm39)	N579I	probably damaging	Het
Atxn7l1	T	C	12: 33,376,099 (GRCm39)	V131A	probably benign	Het
C130073F10Rik	A	G	4: 101,747,992 (GRCm39)	Y61H	probably damaging	Het
C1s2	A	T	6: 124,608,071 (GRCm39)	L214Q	probably damaging	Het
Caprin2	A	T	6: 148,760,176 (GRCm39)	S425T	possibly damaging	Het
Cdc42ep4	G	A	11: 113,619,522 (GRCm39)	R290C	probably damaging	Het
Cenpf	T	C	1: 189,404,825 (GRCm39)	T352A	probably benign	Het
Col6a4	A	T	9: 105,943,990 (GRCm39)	F1161L	probably damaging	Het
Dctn2	T	C	10: 127,113,809 (GRCm39)		probably null	Het
Ddx24	T	C	12: 103,391,817 (GRCm39)		probably benign	Het
Dsg1c	C	A	18: 20,412,752 (GRCm39)	A591D	possibly damaging	Het
Efnb3	T	C	11: 69,446,798 (GRCm39)	D304G	probably damaging	Het
Erbb3	T	C	10: 128,422,094 (GRCm39)	Y50C	probably benign	Het
Eya3	T	G	4: 132,422,113 (GRCm39)	D275E	probably benign	Het
Fam81a	G	T	9: 70,000,929 (GRCm39)	Q272K	probably benign	Het
Foxf1	T	C	8: 121,811,919 (GRCm39)	V261A	probably damaging	Het
Gm9637	G	A	14: 19,402,011 (GRCm38)		noncoding transcript	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Gtf2h2	A	T	13: 100,625,433 (GRCm39)	L61Q	probably damaging	Het
Hey2	T	A	10: 30,710,382 (GRCm39)	I124F	probably benign	Het
Hoxb3	A	T	11: 96,236,789 (GRCm39)	Y289F	probably damaging	Het
Kctd3	C	T	1: 188,713,538 (GRCm39)	R399Q	probably damaging	Het
Kif26b	C	G	1: 178,743,218 (GRCm39)	P1105A	probably benign	Het
Klhl30	C	T	1: 91,285,585 (GRCm39)	T369M	probably damaging	Het
Lipo2	C	T	19: 33,708,339 (GRCm39)	G225D	probably damaging	Het
Macf1	T	C	4: 123,274,327 (GRCm39)	K6350E	probably damaging	Het
Nos1ap	T	C	1: 170,146,150 (GRCm39)	D468G	probably damaging	Het
Or10j2	C	T	1: 173,098,242 (GRCm39)	P167S	possibly damaging	Het
Or11h7	G	A	14: 50,891,419 (GRCm39)	G242R	possibly damaging	Het
Or4a77	C	A	2: 89,487,459 (GRCm39)	E109*	probably null	Het
Pde3a	T	C	6: 141,195,725 (GRCm39)	L137P	probably damaging	Het
Ppm1f	G	A	16: 16,733,172 (GRCm39)	R233Q	probably benign	Het
Rtf2	C	A	2: 172,308,216 (GRCm39)	A205E	possibly damaging	Het
Sh2d5	T	C	4: 137,985,629 (GRCm39)	F359S	probably benign	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Slc39a11	G	A	11: 113,354,905 (GRCm39)	P108L	probably benign	Het
Slc6a5	G	A	7: 49,567,113 (GRCm39)		probably null	Het
Snph	C	T	2: 151,435,642 (GRCm39)	V360M	probably damaging	Het
Snx29	A	G	16: 11,223,651 (GRCm39)		probably null	Het
Sos1	A	G	17: 80,759,408 (GRCm39)		probably null	Het
St8sia6	T	A	2: 13,662,093 (GRCm39)	N246I	probably damaging	Het
Thy1	T	A	9: 43,958,030 (GRCm39)	F53I	probably damaging	Het
Tle3	T	A	9: 61,317,387 (GRCm39)	Y421*	probably null	Het
Ttc21b	C	T	2: 66,056,355 (GRCm39)	R677Q	probably benign	Het
Vmn2r107	A	T	17: 20,595,252 (GRCm39)	I602F	probably benign	Het
Wdr17	C	A	8: 55,096,226 (GRCm39)	G1016C	probably benign	Het
Wdr62	T	C	7: 29,953,486 (GRCm39)	E182G	possibly damaging	Het
Zfp597	A	G	16: 3,684,228 (GRCm39)	I176T	probably benign	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
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
R3696:Myh13	UTSW	11	67,235,870 (GRCm39)	missense	possibly damaging	0.55
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'- ACCGCATGATGTGAAATTGGCAAC -3'
(R):5'- GTCCATCCCGAAGTCAATGAACTCC -3'

Sequencing Primer
(F):5'- ggcaacactcaattacttttgac -3'
(R):5'- TGCTCCAGGCTGTTGAAC -3'

Posted On

2013-07-11