Mutagenetix > Incidental Mutation

Incidental Mutation 'R6875:Myo10'

536395

Institutional Source

Beutler Lab

Gene Symbol

Myo10

Ensembl Gene

ENSMUSG00000022272

Gene Name

myosin X

Synonyms

myosin-X, D15Ertd600e

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

25622636-25813759 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25805745 bp (GRCm39)

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: 12,812,154 (GRCm39)	H270R	probably damaging	Het
Abcb1a	T	C	5: 8,751,628 (GRCm39)	I336T	probably benign	Het
Adam19	T	A	11: 46,003,702 (GRCm39)	F177I	probably benign	Het
Ankrd53	T	C	6: 83,745,155 (GRCm39)	V455A	probably damaging	Het
Arrdc1	A	G	2: 24,815,677 (GRCm39)	S415P	probably benign	Het
Atp10a	T	C	7: 58,447,100 (GRCm39)	L614P	probably benign	Het
Catsper1	G	T	19: 5,393,991 (GRCm39)	V668F	probably damaging	Het
Cluh	T	A	11: 74,552,744 (GRCm39)	D596E	probably damaging	Het
Cnot10	A	G	9: 114,444,175 (GRCm39)	S407P	probably benign	Het
Commd6	T	C	14: 101,871,786 (GRCm39)	T86A	probably damaging	Het
D5Ertd579e	A	T	5: 36,762,001 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,969,760 (GRCm39)	D252G	probably damaging	Het
Epha2	A	T	4: 141,055,779 (GRCm39)	S962C	probably damaging	Het
Fcho1	C	A	8: 72,167,069 (GRCm39)		probably null	Het
Fgf23	G	T	6: 127,050,179 (GRCm39)	G63C	probably damaging	Het
Flnc	A	T	6: 29,445,748 (GRCm39)	Y834F	probably damaging	Het
Gcn1	T	C	5: 115,726,169 (GRCm39)	L608P	probably damaging	Het
Hdac5	T	A	11: 102,093,102 (GRCm39)	E545V	probably damaging	Het
Hecw2	A	T	1: 53,976,291 (GRCm39)	M166K	probably benign	Het
Ikbkb	T	C	8: 23,155,909 (GRCm39)	D586G	probably damaging	Het
Il36g	G	C	2: 24,078,633 (GRCm39)		probably null	Het
Ipo13	A	T	4: 117,762,108 (GRCm39)	I422N	possibly damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,020,078 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,422,377 (GRCm39)	A896T	probably benign	Het
Kif28	A	G	1: 179,563,559 (GRCm39)	I139T	probably damaging	Het
Klhl25	A	G	7: 75,516,090 (GRCm39)	E332G	probably damaging	Het
Krt8	C	T	15: 101,906,343 (GRCm39)	A389T	probably benign	Het
Msrb3	T	C	10: 120,620,011 (GRCm39)	S175G	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nckap5	A	G	1: 125,950,931 (GRCm39)	S1519P	probably benign	Het
Npnt	T	A	3: 132,615,671 (GRCm39)	D124V	probably damaging	Het
Nr1d1	A	T	11: 98,661,662 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,290,477 (GRCm39)	Y365C	probably benign	Het
Or4f56	A	T	2: 111,703,306 (GRCm39)	I298N	possibly damaging	Het
Phf21b	A	T	15: 84,671,647 (GRCm39)	C416S	probably damaging	Het
Prpsap1	A	G	11: 116,362,264 (GRCm39)	S373P	probably damaging	Het
Qrfprl	A	T	6: 65,433,320 (GRCm39)	N380I	probably benign	Het
Rab28	T	C	5: 41,860,877 (GRCm39)	T26A	probably damaging	Het
Rbbp8nl	A	G	2: 179,921,019 (GRCm39)	I455T	probably benign	Het
Rnft2	G	A	5: 118,366,883 (GRCm39)	A285V	possibly damaging	Het
Rrp36	G	T	17: 46,983,297 (GRCm39)	Q106K	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn5a	A	G	9: 119,315,710 (GRCm39)	L1666P	probably damaging	Het
Siglecf	A	C	7: 43,004,624 (GRCm39)	T318P	probably benign	Het
Slc22a1	C	T	17: 12,886,192 (GRCm39)	W147*	probably null	Het
Smchd1	T	C	17: 71,660,501 (GRCm39)	I1868V	probably damaging	Het
Snx21	A	G	2: 164,633,822 (GRCm39)	S203G	probably damaging	Het
Srl	T	C	16: 4,300,695 (GRCm39)	K792R	probably benign	Het
Srrt	A	G	5: 137,296,935 (GRCm39)	F100S	probably benign	Het
Stard9	G	T	2: 120,527,917 (GRCm39)	M1391I	probably benign	Het
Syne2	A	G	12: 76,082,404 (GRCm39)	E119G	probably damaging	Het
Syt11	G	T	3: 88,669,462 (GRCm39)	S143R	possibly damaging	Het
Tiparp	T	A	3: 65,439,063 (GRCm39)	H126Q	probably benign	Het
Tulp2	C	A	7: 45,168,038 (GRCm39)	T150K	probably benign	Het
Ugt2b37	T	A	5: 87,390,288 (GRCm39)	Y386F	probably benign	Het
Usp31	C	T	7: 121,248,863 (GRCm39)	W860*	probably null	Het
Zfp317	A	G	9: 19,554,961 (GRCm39)	R30G	probably damaging	Het
Zfp709	C	A	8: 72,642,851 (GRCm39)	N93K	possibly damaging	Het

Other mutations in Myo10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Myo10	APN	15	25,776,466 (GRCm39)	missense	probably damaging	1.00
IGL01068:Myo10	APN	15	25,739,395 (GRCm39)	missense	possibly damaging	0.93
IGL01352:Myo10	APN	15	25,701,783 (GRCm39)	missense	probably damaging	1.00
IGL01388:Myo10	APN	15	25,736,703 (GRCm39)	missense	possibly damaging	0.55
IGL01460:Myo10	APN	15	25,714,194 (GRCm39)	missense	probably benign	0.00
IGL01553:Myo10	APN	15	25,776,415 (GRCm39)	missense	probably damaging	1.00
IGL01732:Myo10	APN	15	25,732,149 (GRCm39)	missense	probably benign	0.10
IGL01992:Myo10	APN	15	25,799,634 (GRCm39)	missense	possibly damaging	0.92
IGL02000:Myo10	APN	15	25,808,152 (GRCm39)	missense	probably damaging	1.00
IGL02045:Myo10	APN	15	25,726,574 (GRCm39)	missense	probably benign	0.03
IGL02307:Myo10	APN	15	25,776,401 (GRCm39)	splice site	probably benign
IGL02511:Myo10	APN	15	25,723,975 (GRCm39)	missense	probably damaging	0.97
IGL03240:Myo10	APN	15	25,701,688 (GRCm39)	missense	probably damaging	1.00
least	UTSW	15	25,726,561 (GRCm39)	nonsense	probably null
R0037:Myo10	UTSW	15	25,666,618 (GRCm39)	intron	probably benign
R0153:Myo10	UTSW	15	25,781,324 (GRCm39)	missense	possibly damaging	0.84
R0282:Myo10	UTSW	15	25,793,253 (GRCm39)	missense	probably damaging	1.00
R0360:Myo10	UTSW	15	25,804,454 (GRCm39)	missense	probably damaging	1.00
R0585:Myo10	UTSW	15	25,736,541 (GRCm39)	missense	probably damaging	1.00
R0617:Myo10	UTSW	15	25,738,091 (GRCm39)	missense	probably damaging	1.00
R0729:Myo10	UTSW	15	25,722,243 (GRCm39)	splice site	probably benign
R0771:Myo10	UTSW	15	25,778,264 (GRCm39)	missense	probably damaging	1.00
R0960:Myo10	UTSW	15	25,801,275 (GRCm39)	missense	probably damaging	1.00
R1562:Myo10	UTSW	15	25,780,497 (GRCm39)	missense	possibly damaging	0.81
R1651:Myo10	UTSW	15	25,742,455 (GRCm39)	missense	probably damaging	1.00
R1789:Myo10	UTSW	15	25,726,611 (GRCm39)	critical splice donor site	probably null
R1816:Myo10	UTSW	15	25,800,286 (GRCm39)	missense	probably damaging	1.00
R1835:Myo10	UTSW	15	25,805,673 (GRCm39)	missense	possibly damaging	0.53
R1908:Myo10	UTSW	15	25,801,308 (GRCm39)	missense	probably damaging	1.00
R2082:Myo10	UTSW	15	25,786,079 (GRCm39)	missense	probably damaging	1.00
R2101:Myo10	UTSW	15	25,722,345 (GRCm39)	missense	probably benign	0.26
R2129:Myo10	UTSW	15	25,781,885 (GRCm39)	missense	probably benign	0.09
R2141:Myo10	UTSW	15	25,714,194 (GRCm39)	missense	probably benign
R2142:Myo10	UTSW	15	25,714,194 (GRCm39)	missense	probably benign
R2920:Myo10	UTSW	15	25,801,226 (GRCm39)	missense	probably damaging	1.00
R2938:Myo10	UTSW	15	25,795,803 (GRCm39)	missense	probably damaging	0.99
R3723:Myo10	UTSW	15	25,803,374 (GRCm39)	missense	probably damaging	1.00
R3852:Myo10	UTSW	15	25,779,712 (GRCm39)	missense	probably damaging	1.00
R4162:Myo10	UTSW	15	25,726,501 (GRCm39)	splice site	probably null
R4163:Myo10	UTSW	15	25,726,501 (GRCm39)	splice site	probably null
R4164:Myo10	UTSW	15	25,726,501 (GRCm39)	splice site	probably null
R4177:Myo10	UTSW	15	25,734,137 (GRCm39)	missense	possibly damaging	0.81
R4409:Myo10	UTSW	15	25,807,955 (GRCm39)	missense	probably damaging	1.00
R4667:Myo10	UTSW	15	25,793,239 (GRCm39)	missense	possibly damaging	0.91
R4905:Myo10	UTSW	15	25,800,298 (GRCm39)	missense	probably damaging	0.99
R4933:Myo10	UTSW	15	25,781,204 (GRCm39)	missense	probably damaging	0.96
R4968:Myo10	UTSW	15	25,808,270 (GRCm39)	missense	probably damaging	1.00
R5081:Myo10	UTSW	15	25,786,026 (GRCm39)	missense	probably damaging	1.00
R5123:Myo10	UTSW	15	25,726,569 (GRCm39)	missense	possibly damaging	0.94
R5310:Myo10	UTSW	15	25,778,164 (GRCm39)	splice site	probably null
R6073:Myo10	UTSW	15	25,736,728 (GRCm39)	missense	probably damaging	1.00
R6117:Myo10	UTSW	15	25,805,745 (GRCm39)	missense	probably benign	0.00
R6185:Myo10	UTSW	15	25,726,596 (GRCm39)	missense	probably damaging	0.99
R6749:Myo10	UTSW	15	25,714,196 (GRCm39)	missense	probably damaging	1.00
R6819:Myo10	UTSW	15	25,781,496 (GRCm39)	missense	possibly damaging	0.80
R6908:Myo10	UTSW	15	25,804,469 (GRCm39)	missense	probably damaging	1.00
R6963:Myo10	UTSW	15	25,734,149 (GRCm39)	missense	probably benign	0.31
R7144:Myo10	UTSW	15	25,724,011 (GRCm39)	missense	probably damaging	1.00
R7266:Myo10	UTSW	15	25,783,067 (GRCm39)	missense	probably damaging	1.00
R7380:Myo10	UTSW	15	25,779,706 (GRCm39)	missense	probably benign	0.01
R7460:Myo10	UTSW	15	25,807,913 (GRCm39)	missense	probably damaging	1.00
R7614:Myo10	UTSW	15	25,701,709 (GRCm39)	missense	probably benign	0.00
R7618:Myo10	UTSW	15	25,726,561 (GRCm39)	nonsense	probably null
R7717:Myo10	UTSW	15	25,732,056 (GRCm39)	missense	probably benign	0.01
R7811:Myo10	UTSW	15	25,804,610 (GRCm39)	missense	probably damaging	1.00
R7830:Myo10	UTSW	15	25,738,057 (GRCm39)	nonsense	probably null
R7862:Myo10	UTSW	15	25,666,522 (GRCm39)	missense	probably damaging	1.00
R8232:Myo10	UTSW	15	25,804,400 (GRCm39)	missense	possibly damaging	0.89
R8264:Myo10	UTSW	15	25,800,195 (GRCm39)	missense	probably damaging	0.99
R8377:Myo10	UTSW	15	25,804,481 (GRCm39)	missense	possibly damaging	0.94
R8385:Myo10	UTSW	15	25,804,484 (GRCm39)	missense	probably damaging	1.00
R8426:Myo10	UTSW	15	25,799,576 (GRCm39)	missense	probably damaging	0.99
R8439:Myo10	UTSW	15	25,725,158 (GRCm39)	missense	probably benign	0.00
R8696:Myo10	UTSW	15	25,799,572 (GRCm39)	missense	probably damaging	1.00
R8775:Myo10	UTSW	15	25,800,145 (GRCm39)	missense	probably damaging	0.97
R8775-TAIL:Myo10	UTSW	15	25,800,145 (GRCm39)	missense	probably damaging	0.97
R8970:Myo10	UTSW	15	25,803,467 (GRCm39)	missense	possibly damaging	0.82
R9024:Myo10	UTSW	15	25,793,295 (GRCm39)	missense	possibly damaging	0.53
R9196:Myo10	UTSW	15	25,805,716 (GRCm39)	missense	probably damaging	0.96
R9224:Myo10	UTSW	15	25,808,081 (GRCm39)	missense	probably benign	0.33
R9308:Myo10	UTSW	15	25,781,862 (GRCm39)	missense	probably damaging	0.99
R9358:Myo10	UTSW	15	25,781,520 (GRCm39)	missense	possibly damaging	0.69
R9606:Myo10	UTSW	15	25,776,401 (GRCm39)	frame shift	probably null
R9722:Myo10	UTSW	15	25,801,227 (GRCm39)	missense	probably damaging	1.00
RF013:Myo10	UTSW	15	25,799,565 (GRCm39)	missense	probably damaging	0.99
Z1177:Myo10	UTSW	15	25,799,640 (GRCm39)	critical splice donor site	probably null
Z1177:Myo10	UTSW	15	25,781,487 (GRCm39)	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