Mutagenetix > Incidental Mutation

Incidental Mutation 'R5400:Myo3b'

429915

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

042971-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69869470-70259542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69935724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 97 (C97S)

Ref Sequence

ENSEMBL: ENSMUSP00000107862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060208] [ENSMUST00000112241] [ENSMUST00000112243]

AlphaFold

Q1EG27

Predicted Effect

probably damaging
Transcript: ENSMUST00000060208
AA Change: C125S

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

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: C125S

Domain	Start	End	E-Value	Type
S_TKc	43	309	2.24e-85	SMART
MYSc	353	1075	6.61e-260	SMART
IQ	1075	1097	9.51e1	SMART
IQ	1102	1124	1.73e-5	SMART
low complexity region	1319	1324	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112241
AA Change: C46S

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

SMART Domains

Protein: ENSMUSP00000107860
Gene: ENSMUSG00000042064
AA Change: C46S

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	187	3.7e-30	PFAM
Pfam:Pkinase	1	188	8.3e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112243
AA Change: C97S

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

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: C97S

Domain	Start	End	E-Value	Type
S_TKc	15	281	2.24e-85	SMART
MYSc	325	1047	6.61e-260	SMART
IQ	1047	1069	9.51e1	SMART
IQ	1074	1096	1.73e-5	SMART
low complexity region	1291	1296	N/A	INTRINSIC

Meta Mutation Damage Score

0.8387

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	T	C	2: 93,689,767 (GRCm39)	D380G	probably damaging	Het
Afm	T	C	5: 90,699,257 (GRCm39)	L567P	possibly damaging	Het
Anks1b	A	T	10: 90,348,686 (GRCm39)	I785L	probably damaging	Het
Arpc5l	G	A	2: 38,903,747 (GRCm39)	G79S	probably benign	Het
Arvcf	G	T	16: 18,217,820 (GRCm39)	R440L	probably benign	Het
Atm	T	C	9: 53,414,318 (GRCm39)	D924G	probably damaging	Het
Atp8b1	A	T	18: 64,679,060 (GRCm39)		probably null	Het
Cd19	C	T	7: 126,013,624 (GRCm39)	G55D	probably benign	Het
Cd34	A	G	1: 194,621,266 (GRCm39)		probably benign	Het
Cd69	T	A	6: 129,246,954 (GRCm39)	M88L	probably benign	Het
Ces2h	A	G	8: 105,745,057 (GRCm39)	E397G	probably benign	Het
Ddx60	T	C	8: 62,463,036 (GRCm39)	F1306L	possibly damaging	Het
Dennd5b	T	C	6: 148,901,514 (GRCm39)	E1124G	probably damaging	Het
Dio1	A	T	4: 107,164,185 (GRCm39)	M44K	probably damaging	Het
Elapor2	A	T	5: 9,529,247 (GRCm39)	N1027Y	probably damaging	Het
En1	A	G	1: 120,531,324 (GRCm39)	D188G	probably damaging	Het
Epha10	C	T	4: 124,807,914 (GRCm39)		probably benign	Het
Fam120b	A	T	17: 15,623,388 (GRCm39)	L455F	possibly damaging	Het
Flt4	AC	ACC	11: 49,541,861 (GRCm39)		probably null	Het
Incenp	A	G	19: 9,855,039 (GRCm39)		probably null	Het
Kansl3	A	G	1: 36,397,230 (GRCm39)	V86A	possibly damaging	Het
Klhl7	C	G	5: 24,331,918 (GRCm39)	F73L	probably damaging	Het
Med28	T	A	5: 45,682,541 (GRCm39)	V69D	probably damaging	Het
Mknk1	C	A	4: 115,721,749 (GRCm39)	L98M	probably damaging	Het
Mknk1	T	A	4: 115,721,750 (GRCm39)	L98Q	probably damaging	Het
Neto1	A	G	18: 86,414,033 (GRCm39)	H9R	possibly damaging	Het
Omd	A	T	13: 49,745,703 (GRCm39)	E371V	probably benign	Het
Or1n2	A	T	2: 36,797,833 (GRCm39)	I292F	probably damaging	Het
Or2w3b	T	C	11: 58,623,146 (GRCm39)	T282A	possibly damaging	Het
Or4c123	T	C	2: 89,127,257 (GRCm39)	D119G	probably damaging	Het
Or51e2	G	A	7: 102,391,637 (GRCm39)	T191I	probably benign	Het
Osbpl9	G	T	4: 108,919,497 (GRCm39)	Y733*	probably null	Het
Pcdh12	A	T	18: 38,401,951 (GRCm39)	S91R	probably damaging	Het
Pxk	C	A	14: 8,136,911 (GRCm38)	P144Q	probably benign	Het
Qser1	A	G	2: 104,620,219 (GRCm39)	S198P	probably damaging	Het
Recql	T	G	6: 142,308,073 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,184,712 (GRCm39)	D1601G	probably damaging	Het
Scn10a	T	C	9: 119,438,100 (GRCm39)	D1922G	probably damaging	Het
Scn11a	T	A	9: 119,598,974 (GRCm39)	R1185S	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shoc1	A	G	4: 59,082,432 (GRCm39)	S399P	possibly damaging	Het
Slc13a4	A	T	6: 35,278,777 (GRCm39)	C37*	probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc9a9	T	A	9: 94,594,954 (GRCm39)	F155I	probably damaging	Het
Spef2	T	A	15: 9,614,367 (GRCm39)	K1193M	probably damaging	Het
Swt1	T	C	1: 151,288,585 (GRCm39)	T80A	probably benign	Het
Tmc1	A	G	19: 20,781,966 (GRCm39)	I584T	probably damaging	Het
Tsc22d1	C	A	14: 76,654,494 (GRCm39)	F324L	probably benign	Het
Usp19	T	C	9: 108,377,392 (GRCm39)	V1236A	probably damaging	Het
Vmn2r63	T	C	7: 42,577,635 (GRCm39)	N301S	probably benign	Het
Wrn	C	T	8: 33,784,945 (GRCm39)	V476I	probably benign	Het
Zbed6	G	A	1: 133,585,879 (GRCm39)	T486I	probably damaging	Het
Zbtb25	C	A	12: 76,396,476 (GRCm39)	E249*	probably null	Het
Zfp54	C	A	17: 21,653,962 (GRCm39)	T152K	probably benign	Het

Other mutations in Myo3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Myo3b	APN	2	69,935,989 (GRCm39)	splice site	probably benign
IGL00959:Myo3b	APN	2	70,144,636 (GRCm39)	missense	probably damaging	1.00
IGL01069:Myo3b	APN	2	70,075,735 (GRCm39)	missense	probably benign	0.22
IGL01116:Myo3b	APN	2	70,119,730 (GRCm39)	missense	probably damaging	1.00
IGL02097:Myo3b	APN	2	70,069,173 (GRCm39)	missense	probably damaging	1.00
IGL02220:Myo3b	APN	2	70,119,923 (GRCm39)	splice site	probably benign
IGL02553:Myo3b	APN	2	69,925,568 (GRCm39)	missense	probably benign	0.00
IGL02557:Myo3b	APN	2	70,085,663 (GRCm39)	missense	probably benign	0.16
IGL02648:Myo3b	APN	2	69,935,716 (GRCm39)	splice site	probably benign
IGL02902:Myo3b	APN	2	70,119,745 (GRCm39)	missense	probably benign	0.36
IGL02981:Myo3b	APN	2	69,938,969 (GRCm39)	missense	probably damaging	1.00
IGL03030:Myo3b	APN	2	70,257,160 (GRCm39)	splice site	probably benign
IGL03031:Myo3b	APN	2	70,085,721 (GRCm39)	missense	possibly damaging	0.64
IGL03068:Myo3b	APN	2	70,257,160 (GRCm39)	splice site	probably benign
IGL03078:Myo3b	APN	2	70,117,335 (GRCm39)	missense	probably damaging	1.00
IGL03224:Myo3b	APN	2	70,180,283 (GRCm39)	missense	probably benign
IGL03329:Myo3b	APN	2	70,084,803 (GRCm39)	missense	probably damaging	1.00
R0079:Myo3b	UTSW	2	69,925,502 (GRCm39)	missense	possibly damaging	0.58
R0226:Myo3b	UTSW	2	70,047,510 (GRCm39)	missense	probably benign	0.00
R0238:Myo3b	UTSW	2	69,935,769 (GRCm39)	missense	probably benign	0.00
R0238:Myo3b	UTSW	2	69,935,769 (GRCm39)	missense	probably benign	0.00
R0239:Myo3b	UTSW	2	69,935,769 (GRCm39)	missense	probably benign	0.00
R0239:Myo3b	UTSW	2	69,935,769 (GRCm39)	missense	probably benign	0.00
R0313:Myo3b	UTSW	2	70,179,303 (GRCm39)	nonsense	probably null
R0331:Myo3b	UTSW	2	69,925,605 (GRCm39)	missense	probably damaging	1.00
R0371:Myo3b	UTSW	2	70,083,304 (GRCm39)	splice site	probably benign
R0442:Myo3b	UTSW	2	70,069,305 (GRCm39)	critical splice donor site	probably null
R0964:Myo3b	UTSW	2	70,257,193 (GRCm39)	missense	probably damaging	1.00
R1217:Myo3b	UTSW	2	70,161,224 (GRCm39)	missense	probably benign	0.02
R1429:Myo3b	UTSW	2	70,083,351 (GRCm39)	missense	probably damaging	0.97
R1460:Myo3b	UTSW	2	70,062,798 (GRCm39)	missense	probably benign	0.31
R1617:Myo3b	UTSW	2	70,111,562 (GRCm39)	missense	probably benign	0.00
R1628:Myo3b	UTSW	2	70,117,306 (GRCm39)	missense	probably benign	0.01
R1708:Myo3b	UTSW	2	70,075,729 (GRCm39)	nonsense	probably null
R1940:Myo3b	UTSW	2	70,088,419 (GRCm39)	missense	probably benign	0.01
R2407:Myo3b	UTSW	2	70,085,597 (GRCm39)	missense	probably damaging	1.00
R3081:Myo3b	UTSW	2	70,086,927 (GRCm39)	splice site	probably benign
R3687:Myo3b	UTSW	2	70,075,658 (GRCm39)	missense	probably benign
R3745:Myo3b	UTSW	2	70,064,829 (GRCm39)	splice site	probably benign
R4011:Myo3b	UTSW	2	69,926,720 (GRCm39)	missense	probably benign	0.15
R4074:Myo3b	UTSW	2	70,119,808 (GRCm39)	missense	probably damaging	1.00
R4419:Myo3b	UTSW	2	69,926,706 (GRCm39)	missense	probably damaging	1.00
R4496:Myo3b	UTSW	2	70,084,748 (GRCm39)	missense	probably benign
R4539:Myo3b	UTSW	2	69,869,491 (GRCm39)	start codon destroyed	probably null	0.00
R4643:Myo3b	UTSW	2	70,069,186 (GRCm39)	missense	possibly damaging	0.49
R4657:Myo3b	UTSW	2	70,069,243 (GRCm39)	missense	possibly damaging	0.95
R4807:Myo3b	UTSW	2	69,936,056 (GRCm39)	missense	probably damaging	1.00
R4849:Myo3b	UTSW	2	70,075,253 (GRCm39)	missense	probably damaging	0.98
R4997:Myo3b	UTSW	2	70,088,427 (GRCm39)	missense	possibly damaging	0.49
R5008:Myo3b	UTSW	2	70,088,412 (GRCm39)	missense	probably damaging	0.99
R5070:Myo3b	UTSW	2	70,083,456 (GRCm39)	missense	probably damaging	1.00
R5072:Myo3b	UTSW	2	69,925,593 (GRCm39)	missense	possibly damaging	0.96
R5082:Myo3b	UTSW	2	70,088,374 (GRCm39)	missense	probably benign	0.01
R5103:Myo3b	UTSW	2	69,926,747 (GRCm39)	missense	probably benign	0.08
R5109:Myo3b	UTSW	2	69,925,637 (GRCm39)	missense	possibly damaging	0.66
R5304:Myo3b	UTSW	2	70,257,232 (GRCm39)	missense	probably damaging	0.97
R5396:Myo3b	UTSW	2	69,957,329 (GRCm39)	missense	probably damaging	0.99
R5468:Myo3b	UTSW	2	70,064,785 (GRCm39)	missense	probably benign	0.00
R5620:Myo3b	UTSW	2	70,069,254 (GRCm39)	missense	probably benign	0.04
R5646:Myo3b	UTSW	2	70,144,774 (GRCm39)	missense	probably damaging	0.97
R5729:Myo3b	UTSW	2	69,936,083 (GRCm39)	missense	probably damaging	1.00
R5943:Myo3b	UTSW	2	70,117,285 (GRCm39)	missense	probably benign	0.03
R5971:Myo3b	UTSW	2	70,069,243 (GRCm39)	missense	possibly damaging	0.95
R6091:Myo3b	UTSW	2	70,069,113 (GRCm39)	missense	probably benign	0.00
R6138:Myo3b	UTSW	2	70,069,243 (GRCm39)	missense	possibly damaging	0.95
R6164:Myo3b	UTSW	2	70,075,754 (GRCm39)	critical splice donor site	probably null
R6177:Myo3b	UTSW	2	70,143,707 (GRCm39)	missense	probably benign	0.00
R6421:Myo3b	UTSW	2	70,143,700 (GRCm39)	missense	probably benign	0.02
R6478:Myo3b	UTSW	2	70,179,304 (GRCm39)	missense	probably benign
R6606:Myo3b	UTSW	2	70,062,829 (GRCm39)	missense	possibly damaging	0.94
R6752:Myo3b	UTSW	2	70,119,856 (GRCm39)	missense	probably damaging	1.00
R6982:Myo3b	UTSW	2	70,256,409 (GRCm39)	missense	probably benign	0.02
R6997:Myo3b	UTSW	2	69,957,329 (GRCm39)	missense	probably damaging	0.99
R7032:Myo3b	UTSW	2	69,925,608 (GRCm39)	missense	probably damaging	0.98
R7038:Myo3b	UTSW	2	69,925,552 (GRCm39)	missense	probably benign	0.00
R7062:Myo3b	UTSW	2	70,047,501 (GRCm39)	missense	probably benign	0.00
R7537:Myo3b	UTSW	2	70,047,513 (GRCm39)	missense	probably benign	0.01
R7861:Myo3b	UTSW	2	69,939,032 (GRCm39)	missense	probably damaging	1.00
R7955:Myo3b	UTSW	2	69,925,623 (GRCm39)	missense	probably benign	0.37
R7977:Myo3b	UTSW	2	70,161,277 (GRCm39)	missense	probably benign
R7978:Myo3b	UTSW	2	70,083,458 (GRCm39)	missense	probably damaging	1.00
R7987:Myo3b	UTSW	2	70,161,277 (GRCm39)	missense	probably benign
R8803:Myo3b	UTSW	2	70,083,338 (GRCm39)	missense	probably benign
R8843:Myo3b	UTSW	2	70,088,325 (GRCm39)	missense	probably damaging	1.00
R8896:Myo3b	UTSW	2	70,069,160 (GRCm39)	missense	probably damaging	1.00
R8904:Myo3b	UTSW	2	70,257,252 (GRCm39)	missense	probably benign	0.07
R8909:Myo3b	UTSW	2	70,083,440 (GRCm39)	missense	probably damaging	1.00
R9031:Myo3b	UTSW	2	70,082,094 (GRCm39)	missense	probably damaging	0.99
R9052:Myo3b	UTSW	2	70,062,747 (GRCm39)	missense	probably benign	0.00
R9251:Myo3b	UTSW	2	70,088,425 (GRCm39)	nonsense	probably null
R9268:Myo3b	UTSW	2	70,257,305 (GRCm39)	makesense	probably null
R9334:Myo3b	UTSW	2	70,047,360 (GRCm39)	missense	probably damaging	1.00
R9377:Myo3b	UTSW	2	70,069,242 (GRCm39)	missense	possibly damaging	0.78
R9457:Myo3b	UTSW	2	69,925,553 (GRCm39)	missense	probably benign	0.01
R9520:Myo3b	UTSW	2	70,062,753 (GRCm39)	missense	possibly damaging	0.67
R9593:Myo3b	UTSW	2	70,075,648 (GRCm39)	missense	probably benign	0.43
R9671:Myo3b	UTSW	2	70,086,908 (GRCm39)	missense	probably damaging	1.00
R9790:Myo3b	UTSW	2	70,180,287 (GRCm39)	missense	probably benign	0.35
R9791:Myo3b	UTSW	2	70,180,287 (GRCm39)	missense	probably benign	0.35
U15987:Myo3b	UTSW	2	70,069,243 (GRCm39)	missense	possibly damaging	0.95
X0025:Myo3b	UTSW	2	70,062,747 (GRCm39)	missense	probably benign	0.00
X0065:Myo3b	UTSW	2	70,088,313 (GRCm39)	missense	probably damaging	1.00
Z1177:Myo3b	UTSW	2	70,088,371 (GRCm39)	missense	probably benign	0.01
Z1177:Myo3b	UTSW	2	69,926,705 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTCTGGTATCAGCATAAATCAC -3'
(R):5'- GGTTATTCCATCCCGAAGTTTAC -3'

Sequencing Primer
(F):5'- CTGGTATCAGCATAAATCACTACTC -3'
(R):5'- GAAGTTTACTCTCCATAGTTCACGTG -3'

Posted On

2016-09-06