Mutagenetix > Incidental Mutation

Incidental Mutation 'R0194:Myh4'

23316

Institutional Source

Beutler Lab

Gene Symbol

Myh4

Ensembl Gene

ENSMUSG00000057003

Gene Name

myosin, heavy polypeptide 4, skeletal muscle

Synonyms

MM, Minimsc, MYH-2B, MyHC-IIb, Minmus, MHC2B, Myhsf

MMRRC Submission

038453-MU

Accession Numbers

Genbank: NM_010855; MGI: 1339713

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R0194 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67238029-67260446 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67252336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1030 (K1030R)

Ref Sequence

ENSEMBL: ENSMUSP00000127514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018632] [ENSMUST00000170942]

AlphaFold

Q5SX39

Predicted Effect

probably damaging
Transcript: ENSMUST00000018632
AA Change: K1030R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000018632
Gene: ENSMUSG00000057003
AA Change: K1030R

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	74	4.7e-14	PFAM
MYSc	80	783	N/A	SMART
IQ	784	806	8.84e-3	SMART
Pfam:Myosin_tail_1	847	1928	2.5e-168	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170942
AA Change: K1030R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127514
Gene: ENSMUSG00000057003
AA Change: K1030R

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.1e-15	PFAM
MYSc	80	783	N/A	SMART
IQ	784	806	8.84e-3	SMART
low complexity region	928	942	N/A	INTRINSIC
Pfam:Myosin_tail_1	1072	1930	N/A	PFAM

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 91.4%
20x: 70.1%

Validation Efficiency

91% (439/482)

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit decreased growth and muscle defects including reduced muscle mass, muscle fiber loss, compensatory fiber hypertrophy, and impaired strength. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	T	A	4: 35,197,207	D122V	probably damaging	Het
4930553M12Rik	T	A	4: 88,868,243	D46V	unknown	Het
Abcb9	A	G	5: 124,077,295	V461A	probably damaging	Het
Ackr4	T	A	9: 104,099,480	L89F	probably benign	Het
Acsf2	T	C	11: 94,561,370	T449A	probably benign	Het
Acsl4	C	G	X: 142,333,718	G489R	probably damaging	Het
Actl6a	T	A	3: 32,725,320	I399N	probably damaging	Het
Adamts19	G	A	18: 59,011,148	C934Y	probably null	Het
Adsl	A	G	15: 80,961,360	E40G	possibly damaging	Het
AI481877	T	A	4: 59,066,534		probably benign	Het
Alppl2	T	G	1: 87,088,743	D203A	probably damaging	Het
Asb10	C	A	5: 24,537,932	A268S	probably benign	Het
Atp9a	T	C	2: 168,643,885	S832G	probably benign	Het
Bckdha	A	T	7: 25,631,450	I297N	probably damaging	Het
Blm	G	A	7: 80,464,946		probably benign	Het
Cacna1h	A	G	17: 25,380,924		probably benign	Het
Camsap2	G	A	1: 136,292,948	Q298*	probably null	Het
Ccdc38	A	T	10: 93,565,912	K145*	probably null	Het
Cfap45	C	T	1: 172,541,327	T434M	probably benign	Het
Cfap54	A	T	10: 93,034,662		probably benign	Het
Clcn6	G	A	4: 148,012,756	P618L	probably damaging	Het
Copg1	T	C	6: 87,904,197		probably benign	Het
Dctd	T	A	8: 48,112,078	N79K	probably benign	Het
Dgkq	A	G	5: 108,654,644		probably benign	Het
Dntt	A	T	19: 41,038,970	T159S	possibly damaging	Het
Doc2g	G	A	19: 4,003,656	R29Q	probably benign	Het
Dsg3	A	G	18: 20,540,142	T957A	probably damaging	Het
Eif3c	T	A	7: 126,558,623		probably benign	Het
Ephb3	T	A	16: 21,218,109	D107E	probably benign	Het
Esrrb	A	T	12: 86,470,481	D108V	probably damaging	Het
Exo1	A	G	1: 175,892,030	K214E	probably damaging	Het
Fam186a	G	A	15: 99,941,763	T2200I	possibly damaging	Het
Fam227a	C	T	15: 79,640,669	W194*	probably null	Het
Foxn4	A	G	5: 114,259,748		probably null	Het
Gabbr2	T	C	4: 46,787,565	K366R	possibly damaging	Het
Garem2	T	A	5: 30,113,930	V130E	probably damaging	Het
Grin2b	A	G	6: 135,779,305	F474S	probably damaging	Het
H2-M10.6	G	T	17: 36,814,042	V284F	probably damaging	Het
Helz2	C	A	2: 181,232,759	G1981C	probably damaging	Het
Hivep1	G	T	13: 42,155,435	V384F	probably damaging	Het
Hmox1	A	G	8: 75,097,108	T135A	probably damaging	Het
Hpse	T	C	5: 100,719,512	D28G	probably benign	Het
Itm2b	G	T	14: 73,364,618	D213E	probably benign	Het
Jakmip1	T	A	5: 37,134,283	M692K	possibly damaging	Het
Kdm3a	T	C	6: 71,624,594	Q151R	probably null	Het
Limch1	C	A	5: 66,999,273	A517E	probably benign	Het
Lrit1	T	A	14: 37,061,720	L335Q	probably damaging	Het
Lrrc37a	A	G	11: 103,499,790	V1603A	possibly damaging	Het
Mbtps1	T	A	8: 119,535,369	N347I	probably damaging	Het
Mier1	A	T	4: 103,139,519		probably null	Het
Mt2	A	T	8: 94,172,848	M1L	probably damaging	Het
Mug1	A	T	6: 121,840,107	E45V	probably damaging	Het
Mybphl	A	G	3: 108,374,168	K67E	probably benign	Het
Myl3	T	A	9: 110,769,121	D176E	probably benign	Het
Ncapg2	A	G	12: 116,420,683		probably null	Het
Ndor1	T	C	2: 25,248,706		probably null	Het
Nedd4	T	G	9: 72,670,053	N53K	possibly damaging	Het
Nek11	C	A	9: 105,392,952	A24S	probably benign	Het
Nudt19	G	T	7: 35,551,514	P267T	probably benign	Het
Olfml2b	T	C	1: 170,681,115	M514T	possibly damaging	Het
Olfr304	A	T	7: 86,386,374	C95*	probably null	Het
Olfr424	A	T	1: 174,136,761	T6S	probably benign	Het
Olfr556	A	G	7: 102,670,199	D93G	probably benign	Het
Olfr699	C	A	7: 106,790,823	M59I	probably benign	Het
P3h1	T	A	4: 119,237,952	F302Y	probably damaging	Het
Pappa2	T	A	1: 158,765,101		probably benign	Het
Pex2	A	C	3: 5,561,364	H128Q	probably benign	Het
Phf11d	A	C	14: 59,352,731	L214R	probably damaging	Het
Plcg2	G	A	8: 117,573,397		probably benign	Het
Ppargc1b	A	C	18: 61,307,945	L634R	possibly damaging	Het
Prune1	A	T	3: 95,262,360	I177N	probably damaging	Het
Puf60	T	C	15: 76,070,485	D496G	probably damaging	Het
Rasl11b	A	G	5: 74,196,163		probably null	Het
Sdr42e1	A	T	8: 117,663,109	F264L	probably damaging	Het
Sec24b	A	T	3: 129,984,165		probably null	Het
Sgta	G	T	10: 81,051,059	P79T	probably benign	Het
Shisa9	C	T	16: 11,984,954	T125M	probably damaging	Het
Slc12a2	A	G	18: 57,930,211	D921G	probably damaging	Het
Slc13a5	C	T	11: 72,245,233	V494I	probably benign	Het
Slc13a5	T	A	11: 72,262,130	I42L	possibly damaging	Het
Spire2	G	A	8: 123,363,011		probably benign	Het
Sptbn4	G	A	7: 27,404,911	R962C	probably benign	Het
St8sia5	G	A	18: 77,254,724	V377I	probably benign	Het
Stag2	T	G	X: 42,206,137		probably benign	Het
Syne1	C	A	10: 5,424,311	M165I	probably benign	Het
Synm	C	A	7: 67,734,924	V997L	probably damaging	Het
Tacc1	A	G	8: 25,182,376	S279P	probably benign	Het
Tbc1d10a	T	C	11: 4,212,901		probably null	Het
Tbc1d19	A	G	5: 53,860,156	T302A	probably damaging	Het
Tecpr1	A	C	5: 144,218,517	N74K	probably damaging	Het
Tmem120a	T	C	5: 135,742,398	E28G	possibly damaging	Het
Tnfrsf1b	A	T	4: 145,224,812	I186N	probably benign	Het
Trim55	A	G	3: 19,661,861	D195G	probably benign	Het
Trpm3	G	T	19: 22,715,356		probably null	Het
Ttc39a	T	A	4: 109,444,179	S571T	probably benign	Het
Vwf	T	G	6: 125,643,297	I1646S	probably benign	Het
Wbp2nl	T	C	15: 82,314,282	F340S	possibly damaging	Het
Yeats2	T	C	16: 20,152,969	M1T	probably null	Het
Zfp236	T	A	18: 82,656,987	E460V	probably damaging	Het
Zfp277	G	A	12: 40,378,877		probably benign	Het
Zfp975	T	A	7: 42,662,492	K232N	probably benign	Het
Zxdc	T	C	6: 90,372,537		probably benign	Het

Other mutations in Myh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01471:Myh4	APN	11	67255379	missense	probably damaging	1.00
IGL01600:Myh4	APN	11	67260189	missense	possibly damaging	0.85
IGL01737:Myh4	APN	11	67243419	splice site	probably benign
IGL02208:Myh4	APN	11	67251934	missense	possibly damaging	0.96
IGL02334:Myh4	APN	11	67245547	missense	probably damaging	1.00
IGL02376:Myh4	APN	11	67245728	missense	probably benign	0.00
IGL02429:Myh4	APN	11	67258982	nonsense	probably null
IGL02450:Myh4	APN	11	67251809	missense	probably damaging	1.00
IGL02524:Myh4	APN	11	67249240	missense	possibly damaging	0.79
IGL02612:Myh4	APN	11	67256479	missense	probably benign
IGL03024:Myh4	APN	11	67248479	missense	probably damaging	1.00
IGL03065:Myh4	APN	11	67259156	missense	probably benign	0.12
IGL03084:Myh4	APN	11	67251951	splice site	probably null
IGL03188:Myh4	APN	11	67246543	critical splice donor site	probably null
IGL03204:Myh4	APN	11	67250296	missense	possibly damaging	0.63
IGL03252:Myh4	APN	11	67252216	missense	probably damaging	0.99
IGL03345:Myh4	APN	11	67255478	missense	probably damaging	1.00
Mr_chicken	UTSW	11	67249885	missense	possibly damaging	0.74
Mrs_muir	UTSW	11	67245513	missense	probably damaging	1.00
Willies	UTSW	11	67241509	missense	probably damaging	1.00
F6893:Myh4	UTSW	11	67255457	missense	probably null	0.12
PIT1430001:Myh4	UTSW	11	67258832	missense	probably benign	0.01
PIT4458001:Myh4	UTSW	11	67240995	missense	possibly damaging	0.56
R0099:Myh4	UTSW	11	67259347	missense	probably benign
R0346:Myh4	UTSW	11	67260326	missense	probably benign
R0427:Myh4	UTSW	11	67258653	missense	probably damaging	0.98
R0483:Myh4	UTSW	11	67252297	missense	probably damaging	1.00
R0571:Myh4	UTSW	11	67250331	missense	possibly damaging	0.91
R0854:Myh4	UTSW	11	67259147	missense	possibly damaging	0.90
R0940:Myh4	UTSW	11	67242863	missense	probably damaging	1.00
R0946:Myh4	UTSW	11	67251751	missense	possibly damaging	0.70
R1108:Myh4	UTSW	11	67255706	missense	probably null	0.01
R1162:Myh4	UTSW	11	67258613	missense	probably damaging	0.97
R1194:Myh4	UTSW	11	67255734	critical splice donor site	probably null
R1347:Myh4	UTSW	11	67244741	splice site	probably benign
R1457:Myh4	UTSW	11	67248461	missense	probably damaging	0.99
R1531:Myh4	UTSW	11	67250540	missense	probably benign	0.01
R1716:Myh4	UTSW	11	67250309	missense	possibly damaging	0.92
R1766:Myh4	UTSW	11	67256295	missense	possibly damaging	0.61
R1796:Myh4	UTSW	11	67260324	missense	probably benign
R1856:Myh4	UTSW	11	67255682	missense	probably damaging	1.00
R1873:Myh4	UTSW	11	67254743	missense	probably benign	0.16
R2069:Myh4	UTSW	11	67246366	splice site	probably benign
R2370:Myh4	UTSW	11	67255628	missense	probably damaging	1.00
R2406:Myh4	UTSW	11	67259174	missense	probably damaging	1.00
R2414:Myh4	UTSW	11	67250768	missense	probably benign	0.01
R2848:Myh4	UTSW	11	67248633	missense	probably benign	0.20
R3111:Myh4	UTSW	11	67246450	missense	possibly damaging	0.86
R3744:Myh4	UTSW	11	67255315	missense	probably damaging	1.00
R3845:Myh4	UTSW	11	67259105	missense	possibly damaging	0.90
R3877:Myh4	UTSW	11	67257183	missense	probably benign	0.00
R4498:Myh4	UTSW	11	67251752	missense	probably damaging	1.00
R4514:Myh4	UTSW	11	67255569	missense	probably benign	0.06
R4601:Myh4	UTSW	11	67250310	missense	possibly damaging	0.94
R4673:Myh4	UTSW	11	67246401	missense	probably benign	0.02
R4684:Myh4	UTSW	11	67245811	missense	probably damaging	0.99
R4736:Myh4	UTSW	11	67240920	missense	probably benign	0.01
R4837:Myh4	UTSW	11	67258992	missense	probably benign	0.38
R4866:Myh4	UTSW	11	67248627	missense	probably benign	0.00
R4869:Myh4	UTSW	11	67252664	missense	probably damaging	1.00
R4887:Myh4	UTSW	11	67241054	missense	probably damaging	0.99
R4921:Myh4	UTSW	11	67254028	missense	probably damaging	1.00
R5005:Myh4	UTSW	11	67253415	missense	probably benign	0.05
R5008:Myh4	UTSW	11	67253532	missense	probably benign	0.00
R5011:Myh4	UTSW	11	67256363	missense	probably benign	0.03
R5087:Myh4	UTSW	11	67255409	missense	probably damaging	1.00
R5277:Myh4	UTSW	11	67252354	missense	probably damaging	1.00
R5336:Myh4	UTSW	11	67259191	splice site	probably null
R5354:Myh4	UTSW	11	67255725	missense	possibly damaging	0.69
R5371:Myh4	UTSW	11	67259324	missense	probably damaging	1.00
R5484:Myh4	UTSW	11	67251818	missense	probably damaging	1.00
R5774:Myh4	UTSW	11	67253208	nonsense	probably null
R5902:Myh4	UTSW	11	67250907	missense	possibly damaging	0.69
R5941:Myh4	UTSW	11	67259300	missense	probably damaging	0.99
R6045:Myh4	UTSW	11	67244724	missense	probably benign	0.32
R6156:Myh4	UTSW	11	67250792	missense	probably benign	0.00
R6301:Myh4	UTSW	11	67255333	missense	possibly damaging	0.95
R6318:Myh4	UTSW	11	67243442	missense	probably benign	0.02
R6352:Myh4	UTSW	11	67252282	missense	probably damaging	1.00
R6385:Myh4	UTSW	11	67255837	missense	probably damaging	1.00
R6493:Myh4	UTSW	11	67258629	missense	probably benign	0.16
R6666:Myh4	UTSW	11	67251812	missense	probably damaging	1.00
R6826:Myh4	UTSW	11	67246531	missense	probably damaging	1.00
R6852:Myh4	UTSW	11	67252968	splice site	probably null
R6857:Myh4	UTSW	11	67249885	missense	possibly damaging	0.74
R7029:Myh4	UTSW	11	67246425	missense	probably benign	0.40
R7076:Myh4	UTSW	11	67253173	missense	possibly damaging	0.85
R7145:Myh4	UTSW	11	67260228	missense	possibly damaging	0.54
R7179:Myh4	UTSW	11	67244724	missense	probably benign	0.32
R7365:Myh4	UTSW	11	67242848	missense	probably damaging	1.00
R7514:Myh4	UTSW	11	67243322	critical splice donor site	probably null
R7553:Myh4	UTSW	11	67256395	missense	probably damaging	0.99
R7666:Myh4	UTSW	11	67256281	missense	probably damaging	0.99
R7673:Myh4	UTSW	11	67245513	missense	probably damaging	1.00
R7685:Myh4	UTSW	11	67240930	missense	probably benign	0.13
R8154:Myh4	UTSW	11	67253374	missense	probably damaging	1.00
R8343:Myh4	UTSW	11	67252564	missense	possibly damaging	0.45
R8446:Myh4	UTSW	11	67253521	missense	probably benign	0.14
R8534:Myh4	UTSW	11	67243509	missense	probably benign	0.17
R8710:Myh4	UTSW	11	67252332	missense	probably benign
R8775:Myh4	UTSW	11	67257180	missense	probably benign	0.25
R8775-TAIL:Myh4	UTSW	11	67257180	missense	probably benign	0.25
R8852:Myh4	UTSW	11	67241509	missense	probably damaging	1.00
R8860:Myh4	UTSW	11	67241509	missense	probably damaging	1.00
R8897:Myh4	UTSW	11	67246536	missense	possibly damaging	0.90
R8954:Myh4	UTSW	11	67252980	missense	possibly damaging	0.95
R8957:Myh4	UTSW	11	67250954	missense	possibly damaging	0.78
R9065:Myh4	UTSW	11	67248747	missense	probably benign
R9280:Myh4	UTSW	11	67255309	missense	probably damaging	0.96
R9296:Myh4	UTSW	11	67255304	missense	possibly damaging	0.95
R9310:Myh4	UTSW	11	67254744	missense	probably damaging	1.00
R9314:Myh4	UTSW	11	67260315	missense	probably benign	0.01
R9462:Myh4	UTSW	11	67250985	missense	possibly damaging	0.93
R9516:Myh4	UTSW	11	67248464	missense	probably damaging	0.99
R9516:Myh4	UTSW	11	67250303	missense	probably damaging	1.00
R9773:Myh4	UTSW	11	67246437	missense	probably damaging	1.00
X0027:Myh4	UTSW	11	67246480	missense	probably damaging	1.00
Z1176:Myh4	UTSW	11	67248641	missense	probably damaging	1.00
Z1176:Myh4	UTSW	11	67256271	missense	probably benign	0.02
Z1176:Myh4	UTSW	11	67253505	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGACGACCTTGAGCTGACACTG -3'
(R):5'- AAACCCTGAACCCTATGTCCTTTGC -3'

Sequencing Primer
(F):5'- GGTACAACCACTATTCACTTTCAAG -3'
(R):5'- GAACCCTATGTCCTTTGCTAGATAC -3'

Posted On

2013-04-16