Mutagenetix > Incidental Mutation

Incidental Mutation 'R1708:Myo3b'

190198

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

039741-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1708 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69869470-70259542 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 70075729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 578 (K578*)

Ref Sequence

ENSEMBL: ENSMUSP00000107862 (fasta)

Gene Model

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

AlphaFold

Q1EG27

Predicted Effect

probably null
Transcript: ENSMUST00000060208
AA Change: K606*

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: K606*

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 null
Transcript: ENSMUST00000112243
AA Change: K578*

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: K578*

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	A	T	6: 40,941,732 (GRCm39)	I4F	probably benign	Het
Aadacl4fm1	T	C	4: 144,246,511 (GRCm39)	V19A	probably benign	Het
Abca8a	A	T	11: 109,943,928 (GRCm39)	S1114T	probably damaging	Het
Adgre1	A	T	17: 57,708,974 (GRCm39)	Y55F	possibly damaging	Het
Alb	A	C	5: 90,611,910 (GRCm39)	D113A	possibly damaging	Het
Ankrd33b	C	T	15: 31,305,155 (GRCm39)	R203Q	probably damaging	Het
Aqp6	T	C	15: 99,500,543 (GRCm39)	V156A	possibly damaging	Het
AU018091	T	C	7: 3,206,184 (GRCm39)	S616G	probably damaging	Het
Cfd	T	A	10: 79,727,441 (GRCm39)	D68E	probably benign	Het
Cntn2	C	T	1: 132,446,936 (GRCm39)	A725T	probably damaging	Het
Copg2	A	C	6: 30,801,312 (GRCm39)	D373E	probably damaging	Het
Cyp2d11	T	C	15: 82,274,633 (GRCm39)	T315A	probably benign	Het
Cyp2j13	G	T	4: 95,950,304 (GRCm39)	N232K	probably damaging	Het
Cyp2j8	A	T	4: 96,387,832 (GRCm39)	F210I	probably damaging	Het
Dnah9	G	A	11: 65,805,980 (GRCm39)	T3373M	probably benign	Het
Eif2ak3	A	G	6: 70,864,790 (GRCm39)	K549E	probably damaging	Het
Epha3	C	T	16: 63,403,870 (GRCm39)	V744I	probably damaging	Het
Erich6	T	C	3: 58,523,868 (GRCm39)	S669G	probably benign	Het
Fam90a1a	A	T	8: 22,451,464 (GRCm39)	K108N	probably damaging	Het
Fat1	G	A	8: 45,477,829 (GRCm39)	V2292M	probably damaging	Het
Fibp	T	C	19: 5,513,822 (GRCm39)	C255R	probably null	Het
Fzd1	A	G	5: 4,805,791 (GRCm39)	V597A	possibly damaging	Het
Gm12790	G	A	4: 101,825,174 (GRCm39)	A80V	possibly damaging	Het
Gm2381	A	T	7: 42,469,649 (GRCm39)	N158K	probably benign	Het
Impg2	T	A	16: 56,085,441 (GRCm39)	D940E	probably benign	Het
Ints1	A	T	5: 139,748,594 (GRCm39)	V1071E	probably damaging	Het
Kat5	A	T	19: 5,659,507 (GRCm39)	Y44*	probably null	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klra6	A	C	6: 129,999,677 (GRCm39)	L97*	probably null	Het
Ly6c2	C	T	15: 74,983,469 (GRCm39)		probably null	Het
Mon1a	G	A	9: 107,775,917 (GRCm39)	E12K	probably benign	Het
Myrip	A	T	9: 120,293,840 (GRCm39)	R778S	possibly damaging	Het
Ncoa4-ps	A	G	12: 119,225,968 (GRCm39)		noncoding transcript	Het
Or2w4	C	T	13: 21,795,240 (GRCm39)	A300T	probably damaging	Het
Or3a4	G	A	11: 73,944,814 (GRCm39)	T257I	probably damaging	Het
Or4c35	A	G	2: 89,808,382 (GRCm39)	R87G	probably benign	Het
Or52n4b	T	A	7: 108,143,781 (GRCm39)	F14L	probably benign	Het
Or5b121	T	C	19: 13,507,277 (GRCm39)	V80A	probably damaging	Het
Panx3	T	C	9: 37,572,687 (GRCm39)	I288V	probably benign	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pigc	T	A	1: 161,798,293 (GRCm39)	S92T	probably benign	Het
Pou3f2	C	A	4: 22,487,255 (GRCm39)	V293L	possibly damaging	Het
Rbm15	A	G	3: 107,238,536 (GRCm39)	S621P	probably damaging	Het
Rnf220	T	C	4: 117,347,083 (GRCm39)	S110G	probably benign	Het
Rnf38	A	T	4: 44,143,593 (GRCm39)	V115D	probably damaging	Het
Rps6ka2	A	G	17: 7,544,929 (GRCm39)	H347R	probably damaging	Het
Ryr2	T	C	13: 11,602,328 (GRCm39)		probably null	Het
Sema4f	G	T	6: 82,894,975 (GRCm39)	P407T	probably damaging	Het
Setbp1	T	C	18: 78,901,682 (GRCm39)	T662A	probably damaging	Het
Slc27a1	C	A	8: 72,037,274 (GRCm39)		probably null	Het
Slc41a2	T	A	10: 83,069,596 (GRCm39)	I519F	probably damaging	Het
Sntg2	C	T	12: 30,423,179 (GRCm39)	S17N	possibly damaging	Het
Sptb	A	G	12: 76,659,348 (GRCm39)	L1184P	probably damaging	Het
Taf5l	G	A	8: 124,736,509 (GRCm39)	Q21*	probably null	Het
Tbc1d32	A	C	10: 56,027,865 (GRCm39)	S746A	possibly damaging	Het
Tdrd1	T	G	19: 56,830,721 (GRCm39)	S251R	probably benign	Het
Thap7	C	T	16: 17,346,814 (GRCm39)	R121Q	probably benign	Het
Tmem50a	A	G	4: 134,625,779 (GRCm39)	V146A	probably benign	Het
Tmprss15	T	C	16: 78,850,958 (GRCm39)	I327V	possibly damaging	Het
Tmt1a3	A	G	15: 100,233,150 (GRCm39)	N114D	probably damaging	Het
Ttc23	T	C	7: 67,316,924 (GRCm39)	I65T	probably damaging	Het
Vmn1r22	G	T	6: 57,877,481 (GRCm39)	H165Q	possibly damaging	Het
Vopp1	C	T	6: 57,739,497 (GRCm39)	R17H	probably damaging	Het
Vwa5a	A	G	9: 38,639,128 (GRCm39)	K337E	probably benign	Het
Wrap53	G	A	11: 69,454,761 (GRCm39)	R203*	probably null	Het
Zfp944	T	C	17: 22,558,026 (GRCm39)	Y407C	probably damaging	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
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
R5400:Myo3b	UTSW	2	69,935,724 (GRCm39)	missense	probably damaging	1.00
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'- AGCTGCTCCCTTACCTGAAGACTC -3'
(R):5'- TGCATTTGAAAACTGTCCTGCAAGC -3'

Sequencing Primer
(F):5'- TCACCAGAGTATTAGCCTGTGAAG -3'
(R):5'- CTAGAAAacacacacacacacac -3'

Posted On

2014-05-14