Mutagenetix > Incidental Mutation

Incidental Mutation 'R8904:Myo3b'

678355

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8904 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70426908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 1317 (H1317N)

Ref Sequence

ENSEMBL: ENSMUSP00000055362 (fasta)

Gene Model

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

AlphaFold

Q1EG27

Predicted Effect

probably benign
Transcript: ENSMUST00000060208
AA Change: H1317N

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: H1317N

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 benign
Transcript: ENSMUST00000112243
AA Change: H1289N

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: H1289N

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA	CCGGA	16: 21,653,398		probably null	Het
Adcy1	T	G	11: 7,109,075	L327R	probably damaging	Het
Amotl1	T	C	9: 14,558,565	Q624R	probably damaging	Het
Ampd1	A	G	3: 103,081,058	T106A	probably benign	Het
Aqr	T	A	2: 114,136,993	I514F	probably damaging	Het
Atp2b1	A	G	10: 98,969,004	T30A	possibly damaging	Het
Atp9a	A	T	2: 168,705,177	Y186N	probably benign	Het
Bub1	T	A	2: 127,829,702	N21I	possibly damaging	Het
Cachd1	G	A	4: 100,953,166	D322N	probably damaging	Het
Ccdc38	A	G	10: 93,575,335	E402G	probably damaging	Het
Ccl27a	A	T	4: 41,774,194		probably null	Het
Clec4a4	T	C	6: 123,013,877		probably benign	Het
Clic5	A	T	17: 44,242,105	K82M	probably benign	Het
Cnot10	A	T	9: 114,601,355	S566T	probably benign	Het
Cul9	T	C	17: 46,520,501	T1596A	probably damaging	Het
Cyp2c55	A	G	19: 39,034,372	E318G		Het
Entpd8	A	C	2: 25,083,563		probably benign	Het
Epb41l5	A	G	1: 119,620,206	F156L	probably damaging	Het
Ephb4	T	A	5: 137,370,805	M819K	probably damaging	Het
Esr1	A	G	10: 4,746,654	R168G	possibly damaging	Het
Fbxw10	C	A	11: 62,875,005	Y700*	probably null	Het
Fras1	G	T	5: 96,781,279	R3847S	probably benign	Het
Gm11110	T	C	17: 57,103,439	T20A	unknown	Het
Gm996	A	T	2: 25,577,902	S666T	probably benign	Het
Gpr150	G	T	13: 76,056,409	S139*	probably null	Het
Grm1	A	T	10: 10,719,537	N782K	probably damaging	Het
Hmcn2	A	G	2: 31,433,392	S4173G	possibly damaging	Het
Hmx1	T	A	5: 35,392,167	V268D	probably damaging	Het
Hsbp1l1	T	C	18: 80,235,470	T33A	possibly damaging	Het
Hsd17b3	T	C	13: 64,064,380	T161A	probably damaging	Het
Igll1	A	T	16: 16,863,712	W60R	probably benign	Het
Itga11	A	G	9: 62,757,611	T593A	probably benign	Het
Kat6a	A	G	8: 22,938,808	D1393G	possibly damaging	Het
Krt36	A	G	11: 100,105,347	F84L	probably benign	Het
Macrod1	T	C	19: 7,197,020	S266P	probably damaging	Het
Mib2	A	G	4: 155,659,716	V163A	probably damaging	Het
Mpl	A	G	4: 118,444,066	L534P		Het
Mut	A	G	17: 40,937,393	T104A	probably damaging	Het
Nkx2-6	A	G	14: 69,171,971	D57G	probably benign	Het
Olfr1176	T	G	2: 88,339,605	F13L	possibly damaging	Het
Olfr1449	T	C	19: 12,934,828	V30A	probably benign	Het
Olfr374	A	G	8: 72,110,432	I289V	probably damaging	Het
Olfr507	A	G	7: 108,622,712	N300S	probably damaging	Het
Olfr750	A	G	14: 51,071,208	Y62H	probably damaging	Het
Olfr853	A	T	9: 19,537,464	D155E	possibly damaging	Het
Osbpl11	T	A	16: 33,227,237	H523Q	probably damaging	Het
Pde1c	A	T	6: 56,179,143	S148T	possibly damaging	Het
Pign	G	A	1: 105,591,634	A521V	possibly damaging	Het
Pprc1	A	G	19: 46,071,744	M1536V	possibly damaging	Het
Prg4	C	A	1: 150,456,059	A288S	possibly damaging	Het
Prim2	A	T	1: 33,630,432	I154N	possibly damaging	Het
Prkdc	T	C	16: 15,727,726	V1902A	probably benign	Het
Prss40	C	T	1: 34,555,964		probably benign	Het
Ret	C	T	6: 118,180,213		probably benign	Het
Rgs22	A	T	15: 36,025,981	C1056S	probably damaging	Het
Schip1	T	C	3: 68,495,103	L199P	possibly damaging	Het
Sema4d	A	T	13: 51,700,899	L54*	probably null	Het
Sgsm1	C	T	5: 113,273,629	G531R	probably benign	Het
Tas1r2	T	C	4: 139,667,403	F519S	probably damaging	Het
Tnfsf11	C	T	14: 78,278,679	R283Q	possibly damaging	Het
Tril	C	T	6: 53,820,217	V7M	possibly damaging	Het
Tsr1	T	A	11: 74,899,391	Y137*	probably null	Het
Ubr5	A	G	15: 38,041,909	S148P		Het
Unc13b	A	G	4: 43,178,531		probably benign	Het
Zfp606	A	G	7: 12,489,579	T64A	possibly damaging	Het

Other mutations in Myo3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Myo3b	APN	2	70105645	splice site	probably benign
IGL00959:Myo3b	APN	2	70314292	missense	probably damaging	1.00
IGL01069:Myo3b	APN	2	70245391	missense	probably benign	0.22
IGL01116:Myo3b	APN	2	70289386	missense	probably damaging	1.00
IGL02097:Myo3b	APN	2	70238829	missense	probably damaging	1.00
IGL02220:Myo3b	APN	2	70289579	splice site	probably benign
IGL02553:Myo3b	APN	2	70095224	missense	probably benign	0.00
IGL02557:Myo3b	APN	2	70255319	missense	probably benign	0.16
IGL02648:Myo3b	APN	2	70105372	splice site	probably benign
IGL02902:Myo3b	APN	2	70289401	missense	probably benign	0.36
IGL02981:Myo3b	APN	2	70108625	missense	probably damaging	1.00
IGL03030:Myo3b	APN	2	70426816	splice site	probably benign
IGL03031:Myo3b	APN	2	70255377	missense	possibly damaging	0.64
IGL03068:Myo3b	APN	2	70426816	splice site	probably benign
IGL03078:Myo3b	APN	2	70286991	missense	probably damaging	1.00
IGL03224:Myo3b	APN	2	70349939	missense	probably benign
IGL03329:Myo3b	APN	2	70254459	missense	probably damaging	1.00
R0079:Myo3b	UTSW	2	70095158	missense	possibly damaging	0.58
R0226:Myo3b	UTSW	2	70217166	missense	probably benign	0.00
R0238:Myo3b	UTSW	2	70105425	missense	probably benign	0.00
R0238:Myo3b	UTSW	2	70105425	missense	probably benign	0.00
R0239:Myo3b	UTSW	2	70105425	missense	probably benign	0.00
R0239:Myo3b	UTSW	2	70105425	missense	probably benign	0.00
R0313:Myo3b	UTSW	2	70348959	nonsense	probably null
R0331:Myo3b	UTSW	2	70095261	missense	probably damaging	1.00
R0371:Myo3b	UTSW	2	70252960	splice site	probably benign
R0442:Myo3b	UTSW	2	70238961	critical splice donor site	probably null
R0964:Myo3b	UTSW	2	70426849	missense	probably damaging	1.00
R1217:Myo3b	UTSW	2	70330880	missense	probably benign	0.02
R1429:Myo3b	UTSW	2	70253007	missense	probably damaging	0.97
R1460:Myo3b	UTSW	2	70232454	missense	probably benign	0.31
R1617:Myo3b	UTSW	2	70281218	missense	probably benign	0.00
R1628:Myo3b	UTSW	2	70286962	missense	probably benign	0.01
R1708:Myo3b	UTSW	2	70245385	nonsense	probably null
R1940:Myo3b	UTSW	2	70258075	missense	probably benign	0.01
R2407:Myo3b	UTSW	2	70255253	missense	probably damaging	1.00
R3081:Myo3b	UTSW	2	70256583	splice site	probably benign
R3687:Myo3b	UTSW	2	70245314	missense	probably benign
R3745:Myo3b	UTSW	2	70234485	splice site	probably benign
R4011:Myo3b	UTSW	2	70096376	missense	probably benign	0.15
R4074:Myo3b	UTSW	2	70289464	missense	probably damaging	1.00
R4419:Myo3b	UTSW	2	70096362	missense	probably damaging	1.00
R4496:Myo3b	UTSW	2	70254404	missense	probably benign
R4539:Myo3b	UTSW	2	70039147	start codon destroyed	probably null	0.00
R4643:Myo3b	UTSW	2	70238842	missense	possibly damaging	0.49
R4657:Myo3b	UTSW	2	70238899	missense	possibly damaging	0.95
R4807:Myo3b	UTSW	2	70105712	missense	probably damaging	1.00
R4849:Myo3b	UTSW	2	70244909	missense	probably damaging	0.98
R4997:Myo3b	UTSW	2	70258083	missense	possibly damaging	0.49
R5008:Myo3b	UTSW	2	70258068	missense	probably damaging	0.99
R5070:Myo3b	UTSW	2	70253112	missense	probably damaging	1.00
R5072:Myo3b	UTSW	2	70095249	missense	possibly damaging	0.96
R5082:Myo3b	UTSW	2	70258030	missense	probably benign	0.01
R5103:Myo3b	UTSW	2	70096403	missense	probably benign	0.08
R5109:Myo3b	UTSW	2	70095293	missense	possibly damaging	0.66
R5304:Myo3b	UTSW	2	70426888	missense	probably damaging	0.97
R5396:Myo3b	UTSW	2	70126985	missense	probably damaging	0.99
R5400:Myo3b	UTSW	2	70105380	missense	probably damaging	1.00
R5468:Myo3b	UTSW	2	70234441	missense	probably benign	0.00
R5620:Myo3b	UTSW	2	70238910	missense	probably benign	0.04
R5646:Myo3b	UTSW	2	70314430	missense	probably damaging	0.97
R5729:Myo3b	UTSW	2	70105739	missense	probably damaging	1.00
R5943:Myo3b	UTSW	2	70286941	missense	probably benign	0.03
R5971:Myo3b	UTSW	2	70238899	missense	possibly damaging	0.95
R6091:Myo3b	UTSW	2	70238769	missense	probably benign	0.00
R6138:Myo3b	UTSW	2	70238899	missense	possibly damaging	0.95
R6164:Myo3b	UTSW	2	70245410	critical splice donor site	probably null
R6177:Myo3b	UTSW	2	70313363	missense	probably benign	0.00
R6421:Myo3b	UTSW	2	70313356	missense	probably benign	0.02
R6478:Myo3b	UTSW	2	70348960	missense	probably benign
R6606:Myo3b	UTSW	2	70232485	missense	possibly damaging	0.94
R6752:Myo3b	UTSW	2	70289512	missense	probably damaging	1.00
R6982:Myo3b	UTSW	2	70426065	missense	probably benign	0.02
R6997:Myo3b	UTSW	2	70126985	missense	probably damaging	0.99
R7032:Myo3b	UTSW	2	70095264	missense	probably damaging	0.98
R7038:Myo3b	UTSW	2	70095208	missense	probably benign	0.00
R7062:Myo3b	UTSW	2	70217157	missense	probably benign	0.00
R7537:Myo3b	UTSW	2	70217169	missense	probably benign	0.01
R7861:Myo3b	UTSW	2	70108688	missense	probably damaging	1.00
R7955:Myo3b	UTSW	2	70095279	missense	probably benign	0.37
R7977:Myo3b	UTSW	2	70330933	missense	probably benign
R7978:Myo3b	UTSW	2	70253114	missense	probably damaging	1.00
R7987:Myo3b	UTSW	2	70330933	missense	probably benign
R8803:Myo3b	UTSW	2	70252994	missense	probably benign
R8843:Myo3b	UTSW	2	70257981	missense	probably damaging	1.00
R8896:Myo3b	UTSW	2	70238816	missense	probably damaging	1.00
R8909:Myo3b	UTSW	2	70253096	missense	probably damaging	1.00
R9031:Myo3b	UTSW	2	70251750	missense	probably damaging	0.99
R9052:Myo3b	UTSW	2	70232403	missense	probably benign	0.00
R9251:Myo3b	UTSW	2	70258081	nonsense	probably null
R9268:Myo3b	UTSW	2	70426961	makesense	probably null
R9334:Myo3b	UTSW	2	70217016	missense	probably damaging	1.00
R9377:Myo3b	UTSW	2	70238898	missense	possibly damaging	0.78
R9457:Myo3b	UTSW	2	70095209	missense	probably benign	0.01
R9520:Myo3b	UTSW	2	70232409	missense	possibly damaging	0.67
R9593:Myo3b	UTSW	2	70245304	missense	probably benign	0.43
R9671:Myo3b	UTSW	2	70256564	missense	probably damaging	1.00
R9790:Myo3b	UTSW	2	70349943	missense	probably benign	0.35
R9791:Myo3b	UTSW	2	70349943	missense	probably benign	0.35
U15987:Myo3b	UTSW	2	70238899	missense	possibly damaging	0.95
X0025:Myo3b	UTSW	2	70232403	missense	probably benign	0.00
X0065:Myo3b	UTSW	2	70257969	missense	probably damaging	1.00
Z1177:Myo3b	UTSW	2	70096361	missense	probably damaging	1.00
Z1177:Myo3b	UTSW	2	70258027	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGACATTCAGAGCTGGGCAG -3'
(R):5'- GAATCTGTTGAGTTGTTCAGCAAG -3'

Sequencing Primer
(F):5'- AGGATGTAGCCCTGCCCAC -3'
(R):5'- TTCAGCAAGGTTTAGGGCCCAG -3'

Posted On

2021-08-02