Mutagenetix > Incidental Mutation

Incidental Mutation 'R6875:Myo10'

536395

Institutional Source

Beutler Lab

Gene Symbol

Myo10

Ensembl Gene

ENSMUSG00000022272

Gene Name

myosin X

Synonyms

D15Ertd600e, myosin-X

MMRRC Submission

044971-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25622525-25813673 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25805659 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1709 (Y1709H)

Ref Sequence

ENSEMBL: ENSMUSP00000106087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022882] [ENSMUST00000110457]

AlphaFold

F8VQB6

Predicted Effect

probably benign
Transcript: ENSMUST00000022882
AA Change: Y963H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000022882
Gene: ENSMUSG00000022272
AA Change: Y963H

Domain	Start	End	E-Value	Type
IQ	1	17	7.83e1	SMART
IQ	18	40	1.06e0	SMART
IQ	41	63	7.07e-2	SMART
PDB:2LW9\|B	136	171	7e-13	PDB
low complexity region	172	186	N/A	INTRINSIC
low complexity region	213	235	N/A	INTRINSIC
low complexity region	344	356	N/A	INTRINSIC
low complexity region	401	419	N/A	INTRINSIC
PH	471	570	1.39e-21	SMART
SCOP:d1faoa_	588	639	3e-6	SMART
PH	651	757	6.76e-11	SMART
MyTH4	805	953	4.12e-37	SMART
B41	954	1216	1.72e-44	SMART
Blast:B41	1218	1303	3e-45	BLAST
low complexity region	1304	1316	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110457
AA Change: Y1709H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000106087
Gene: ENSMUSG00000022272
AA Change: Y1709H

Domain	Start	End	E-Value	Type
MYSc	57	740	N/A	SMART
IQ	741	763	1.27e-3	SMART
IQ	764	786	1.06e0	SMART
IQ	787	809	7.07e-2	SMART
Pfam:MYO10_CC	881	932	4.2e-22	PFAM
low complexity region	959	981	N/A	INTRINSIC
low complexity region	1090	1102	N/A	INTRINSIC
low complexity region	1147	1165	N/A	INTRINSIC
PH	1217	1316	1.39e-21	SMART
PH	1397	1503	6.76e-11	SMART
MyTH4	1551	1699	4.12e-37	SMART
B41	1700	1962	1.72e-44	SMART
low complexity region	2050	2062	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mutations are semi-lethal with over half of homozygous embryos exhibiting exencephaly. Surviving mutants show decreased body weight, white spotting, syndactyly, persistence of hyaloid vascular system and other eye defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	T	C	15: 12,812,068 (GRCm38)	H270R	probably damaging	Het
Abcb1a	T	C	5: 8,701,628 (GRCm38)	I336T	probably benign	Het
Adam19	T	A	11: 46,112,875 (GRCm38)	F177I	probably benign	Het
Ankrd53	T	C	6: 83,768,173 (GRCm38)	V455A	probably damaging	Het
Arrdc1	A	G	2: 24,925,665 (GRCm38)	S415P	probably benign	Het
Atp10a	T	C	7: 58,797,352 (GRCm38)	L614P	probably benign	Het
C130060K24Rik	A	T	6: 65,456,336 (GRCm38)	N380I	probably benign	Het
Catsper1	G	T	19: 5,343,963 (GRCm38)	V668F	probably damaging	Het
Cluh	T	A	11: 74,661,918 (GRCm38)	D596E	probably damaging	Het
Cnot10	A	G	9: 114,615,107 (GRCm38)	S407P	probably benign	Het
Commd6	T	C	14: 101,634,350 (GRCm38)	T86A	probably damaging	Het
D5Ertd579e	A	T	5: 36,604,657 (GRCm38)		probably null	Het
Eif3l	A	G	15: 79,085,560 (GRCm38)	D252G	probably damaging	Het
Epha2	A	T	4: 141,328,468 (GRCm38)	S962C	probably damaging	Het
Fcho1	C	A	8: 71,714,425 (GRCm38)		probably null	Het
Fgf23	G	T	6: 127,073,216 (GRCm38)	G63C	probably damaging	Het
Flnc	A	T	6: 29,445,749 (GRCm38)	Y834F	probably damaging	Het
Gcn1l1	T	C	5: 115,588,110 (GRCm38)	L608P	probably damaging	Het
Hdac5	T	A	11: 102,202,276 (GRCm38)	E545V	probably damaging	Het
Hecw2	A	T	1: 53,937,132 (GRCm38)	M166K	probably benign	Het
Ikbkb	T	C	8: 22,665,893 (GRCm38)	D586G	probably damaging	Het
Il1f9	G	C	2: 24,188,621 (GRCm38)		probably null	Het
Ipo13	A	T	4: 117,904,911 (GRCm38)	I422N	possibly damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,112,771 (GRCm38)		probably null	Het
Kat6a	G	A	8: 22,932,361 (GRCm38)	A896T	probably benign	Het
Kif28	A	G	1: 179,735,994 (GRCm38)	I139T	probably damaging	Het
Klhl25	A	G	7: 75,866,342 (GRCm38)	E332G	probably damaging	Het
Krt8	C	T	15: 101,997,908 (GRCm38)	A389T	probably benign	Het
Msrb3	T	C	10: 120,784,106 (GRCm38)	S175G	probably benign	Het
Muc5ac	C	T	7: 141,809,744 (GRCm38)		probably benign	Het
Nckap5	A	G	1: 126,023,194 (GRCm38)	S1519P	probably benign	Het
Npnt	T	A	3: 132,909,910 (GRCm38)	D124V	probably damaging	Het
Nr1d1	A	T	11: 98,770,836 (GRCm38)		probably null	Het
Ogdh	A	G	11: 6,340,477 (GRCm38)	Y365C	probably benign	Het
Olfr1305	A	T	2: 111,872,961 (GRCm38)	I298N	possibly damaging	Het
Phf21b	A	T	15: 84,787,446 (GRCm38)	C416S	probably damaging	Het
Prpsap1	A	G	11: 116,471,438 (GRCm38)	S373P	probably damaging	Het
Rab28	T	C	5: 41,703,534 (GRCm38)	T26A	probably damaging	Het
Rbbp8nl	A	G	2: 180,279,226 (GRCm38)	I455T	probably benign	Het
Rnft2	G	A	5: 118,228,818 (GRCm38)	A285V	possibly damaging	Het
Rrp36	G	T	17: 46,672,371 (GRCm38)	Q106K	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908 (GRCm38)		probably benign	Het
Runx2	G	A	17: 44,814,192 (GRCm38)	P80L	probably damaging	Het
Scn5a	A	G	9: 119,486,644 (GRCm38)	L1666P	probably damaging	Het
Siglecf	A	C	7: 43,355,200 (GRCm38)	T318P	probably benign	Het
Slc22a1	C	T	17: 12,667,305 (GRCm38)	W147*	probably null	Het
Smchd1	T	C	17: 71,353,506 (GRCm38)	I1868V	probably damaging	Het
Snx21	A	G	2: 164,791,902 (GRCm38)	S203G	probably damaging	Het
Srl	T	C	16: 4,482,831 (GRCm38)	K792R	probably benign	Het
Srrt	A	G	5: 137,298,673 (GRCm38)	F100S	probably benign	Het
Stard9	G	T	2: 120,697,436 (GRCm38)	M1391I	probably benign	Het
Syne2	A	G	12: 76,035,630 (GRCm38)	E119G	probably damaging	Het
Syt11	G	T	3: 88,762,155 (GRCm38)	S143R	possibly damaging	Het
Tiparp	T	A	3: 65,531,642 (GRCm38)	H126Q	probably benign	Het
Tulp2	C	A	7: 45,518,614 (GRCm38)	T150K	probably benign	Het
Ugt2b37	T	A	5: 87,242,429 (GRCm38)	Y386F	probably benign	Het
Usp31	C	T	7: 121,649,640 (GRCm38)	W860*	probably null	Het
Zfp317	A	G	9: 19,643,665 (GRCm38)	R30G	probably damaging	Het
Zfp709	C	A	8: 71,889,007 (GRCm38)	N93K	possibly damaging	Het

Other mutations in Myo10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Myo10	APN	15	25,776,380 (GRCm38)	missense	probably damaging	1.00
IGL01068:Myo10	APN	15	25,739,309 (GRCm38)	missense	possibly damaging	0.93
IGL01352:Myo10	APN	15	25,701,697 (GRCm38)	missense	probably damaging	1.00
IGL01388:Myo10	APN	15	25,736,617 (GRCm38)	missense	possibly damaging	0.55
IGL01460:Myo10	APN	15	25,714,108 (GRCm38)	missense	probably benign	0.00
IGL01553:Myo10	APN	15	25,776,329 (GRCm38)	missense	probably damaging	1.00
IGL01732:Myo10	APN	15	25,732,063 (GRCm38)	missense	probably benign	0.10
IGL01992:Myo10	APN	15	25,799,548 (GRCm38)	missense	possibly damaging	0.92
IGL02000:Myo10	APN	15	25,808,066 (GRCm38)	missense	probably damaging	1.00
IGL02045:Myo10	APN	15	25,726,488 (GRCm38)	missense	probably benign	0.03
IGL02307:Myo10	APN	15	25,776,315 (GRCm38)	splice site	probably benign
IGL02511:Myo10	APN	15	25,723,889 (GRCm38)	missense	probably damaging	0.97
IGL03240:Myo10	APN	15	25,701,602 (GRCm38)	missense	probably damaging	1.00
least	UTSW	15	25,726,475 (GRCm38)	nonsense	probably null
R0037:Myo10	UTSW	15	25,666,532 (GRCm38)	intron	probably benign
R0153:Myo10	UTSW	15	25,781,238 (GRCm38)	missense	possibly damaging	0.84
R0282:Myo10	UTSW	15	25,793,167 (GRCm38)	missense	probably damaging	1.00
R0360:Myo10	UTSW	15	25,804,368 (GRCm38)	missense	probably damaging	1.00
R0585:Myo10	UTSW	15	25,736,455 (GRCm38)	missense	probably damaging	1.00
R0617:Myo10	UTSW	15	25,738,005 (GRCm38)	missense	probably damaging	1.00
R0729:Myo10	UTSW	15	25,722,157 (GRCm38)	splice site	probably benign
R0771:Myo10	UTSW	15	25,778,178 (GRCm38)	missense	probably damaging	1.00
R0960:Myo10	UTSW	15	25,801,189 (GRCm38)	missense	probably damaging	1.00
R1562:Myo10	UTSW	15	25,780,411 (GRCm38)	missense	possibly damaging	0.81
R1651:Myo10	UTSW	15	25,742,369 (GRCm38)	missense	probably damaging	1.00
R1789:Myo10	UTSW	15	25,726,525 (GRCm38)	critical splice donor site	probably null
R1816:Myo10	UTSW	15	25,800,200 (GRCm38)	missense	probably damaging	1.00
R1835:Myo10	UTSW	15	25,805,587 (GRCm38)	missense	possibly damaging	0.53
R1908:Myo10	UTSW	15	25,801,222 (GRCm38)	missense	probably damaging	1.00
R2082:Myo10	UTSW	15	25,785,993 (GRCm38)	missense	probably damaging	1.00
R2101:Myo10	UTSW	15	25,722,259 (GRCm38)	missense	probably benign	0.26
R2129:Myo10	UTSW	15	25,781,799 (GRCm38)	missense	probably benign	0.09
R2141:Myo10	UTSW	15	25,714,108 (GRCm38)	missense	probably benign
R2142:Myo10	UTSW	15	25,714,108 (GRCm38)	missense	probably benign
R2920:Myo10	UTSW	15	25,801,140 (GRCm38)	missense	probably damaging	1.00
R2938:Myo10	UTSW	15	25,795,717 (GRCm38)	missense	probably damaging	0.99
R3723:Myo10	UTSW	15	25,803,288 (GRCm38)	missense	probably damaging	1.00
R3852:Myo10	UTSW	15	25,779,626 (GRCm38)	missense	probably damaging	1.00
R4162:Myo10	UTSW	15	25,726,415 (GRCm38)	splice site	probably null
R4163:Myo10	UTSW	15	25,726,415 (GRCm38)	splice site	probably null
R4164:Myo10	UTSW	15	25,726,415 (GRCm38)	splice site	probably null
R4177:Myo10	UTSW	15	25,734,051 (GRCm38)	missense	possibly damaging	0.81
R4409:Myo10	UTSW	15	25,807,869 (GRCm38)	missense	probably damaging	1.00
R4667:Myo10	UTSW	15	25,793,153 (GRCm38)	missense	possibly damaging	0.91
R4905:Myo10	UTSW	15	25,800,212 (GRCm38)	missense	probably damaging	0.99
R4933:Myo10	UTSW	15	25,781,118 (GRCm38)	missense	probably damaging	0.96
R4968:Myo10	UTSW	15	25,808,184 (GRCm38)	missense	probably damaging	1.00
R5081:Myo10	UTSW	15	25,785,940 (GRCm38)	missense	probably damaging	1.00
R5123:Myo10	UTSW	15	25,726,483 (GRCm38)	missense	possibly damaging	0.94
R5310:Myo10	UTSW	15	25,778,078 (GRCm38)	splice site	probably null
R6073:Myo10	UTSW	15	25,736,642 (GRCm38)	missense	probably damaging	1.00
R6117:Myo10	UTSW	15	25,805,659 (GRCm38)	missense	probably benign	0.00
R6185:Myo10	UTSW	15	25,726,510 (GRCm38)	missense	probably damaging	0.99
R6749:Myo10	UTSW	15	25,714,110 (GRCm38)	missense	probably damaging	1.00
R6819:Myo10	UTSW	15	25,781,410 (GRCm38)	missense	possibly damaging	0.80
R6908:Myo10	UTSW	15	25,804,383 (GRCm38)	missense	probably damaging	1.00
R6963:Myo10	UTSW	15	25,734,063 (GRCm38)	missense	probably benign	0.31
R7144:Myo10	UTSW	15	25,723,925 (GRCm38)	missense	probably damaging	1.00
R7266:Myo10	UTSW	15	25,782,981 (GRCm38)	missense	probably damaging	1.00
R7380:Myo10	UTSW	15	25,779,620 (GRCm38)	missense	probably benign	0.01
R7460:Myo10	UTSW	15	25,807,827 (GRCm38)	missense	probably damaging	1.00
R7614:Myo10	UTSW	15	25,701,623 (GRCm38)	missense	probably benign	0.00
R7618:Myo10	UTSW	15	25,726,475 (GRCm38)	nonsense	probably null
R7717:Myo10	UTSW	15	25,731,970 (GRCm38)	missense	probably benign	0.01
R7811:Myo10	UTSW	15	25,804,524 (GRCm38)	missense	probably damaging	1.00
R7830:Myo10	UTSW	15	25,737,971 (GRCm38)	nonsense	probably null
R7862:Myo10	UTSW	15	25,666,436 (GRCm38)	missense	probably damaging	1.00
R8232:Myo10	UTSW	15	25,804,314 (GRCm38)	missense	possibly damaging	0.89
R8264:Myo10	UTSW	15	25,800,109 (GRCm38)	missense	probably damaging	0.99
R8377:Myo10	UTSW	15	25,804,395 (GRCm38)	missense	possibly damaging	0.94
R8385:Myo10	UTSW	15	25,804,398 (GRCm38)	missense	probably damaging	1.00
R8426:Myo10	UTSW	15	25,799,490 (GRCm38)	missense	probably damaging	0.99
R8439:Myo10	UTSW	15	25,725,072 (GRCm38)	missense	probably benign	0.00
R8696:Myo10	UTSW	15	25,799,486 (GRCm38)	missense	probably damaging	1.00
R8775:Myo10	UTSW	15	25,800,059 (GRCm38)	missense	probably damaging	0.97
R8775-TAIL:Myo10	UTSW	15	25,800,059 (GRCm38)	missense	probably damaging	0.97
R8970:Myo10	UTSW	15	25,803,381 (GRCm38)	missense	possibly damaging	0.82
R9024:Myo10	UTSW	15	25,793,209 (GRCm38)	missense	possibly damaging	0.53
R9196:Myo10	UTSW	15	25,805,630 (GRCm38)	missense	probably damaging	0.96
R9224:Myo10	UTSW	15	25,807,995 (GRCm38)	missense	probably benign	0.33
R9308:Myo10	UTSW	15	25,781,776 (GRCm38)	missense	probably damaging	0.99
R9358:Myo10	UTSW	15	25,781,434 (GRCm38)	missense	possibly damaging	0.69
R9606:Myo10	UTSW	15	25,776,315 (GRCm38)	frame shift	probably null
R9722:Myo10	UTSW	15	25,801,141 (GRCm38)	missense	probably damaging	1.00
RF013:Myo10	UTSW	15	25,799,479 (GRCm38)	missense	probably damaging	0.99
Z1177:Myo10	UTSW	15	25,799,554 (GRCm38)	critical splice donor site	probably null
Z1177:Myo10	UTSW	15	25,781,401 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCACCTTTGTCTCCCAGG -3'
(R):5'- TGCACGTAACTCAACTTTTACC -3'

Sequencing Primer
(F):5'- ACCTTTGTCTCCCAGGATACGG -3'
(R):5'- GCTGCTGGCTGTACTGAC -3'

Posted On

2018-10-18