Mutagenetix > Incidental Mutation

Incidental Mutation 'R8803:Myo3b'

671597

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 #

R8803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70252994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 664 (S664P)

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: S664P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: S664P

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: S636P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: S636P

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,545,256	S431T	probably benign	Het
Acot7	T	G	4: 152,217,815	V128G	probably damaging	Het
Actn3	T	C	19: 4,864,663	D508G	probably benign	Het
Adam18	T	C	8: 24,647,862	I321V	probably benign	Het
Ak1	T	C	2: 32,633,478	V186A	probably benign	Het
Aldh3a2	A	G	11: 61,248,930	F459L	probably benign	Het
Atp11a	T	C	8: 12,825,721	L256P	probably benign	Het
Bcan	T	C	3: 87,996,692	E162G	probably benign	Het
Birc6	A	G	17: 74,652,038	Q3850R	probably damaging	Het
Btf3l4	T	G	4: 108,831,887		probably benign	Het
Btla	A	G	16: 45,239,067	T45A	probably benign	Het
Cad	T	G	5: 31,069,564	S1222A	probably damaging	Het
Cbarp	A	G	10: 80,137,142	V39A	possibly damaging	Het
Cct2	A	C	10: 117,058,185	D221E	probably benign	Het
Cmya5	T	C	13: 93,041,483	D3621G	probably damaging	Het
Col20a1	G	T	2: 181,001,338	R867L	possibly damaging	Het
Cops3	A	G	11: 59,827,976	V164A	probably benign	Het
Crygf	A	G	1: 65,927,989	R91G	probably damaging	Het
Csmd2	T	A	4: 128,546,684	S3181T		Het
Cyb5r1	G	T	1: 134,405,958		probably benign	Het
Dennd6b	T	A	15: 89,186,180	I429F	probably benign	Het
Dock1	A	G	7: 134,874,087	T864A	probably benign	Het
Eea1	A	T	10: 96,023,991	D713V	probably benign	Het
Fam78b	G	A	1: 167,001,591	C9Y	probably damaging	Het
Gga2	A	C	7: 121,997,779	D371E	probably benign	Het
Gtpbp6	A	T	5: 110,107,320	V2E	unknown	Het
Hectd4	A	T	5: 121,323,931	M954L	probably benign	Het
Hmcn1	A	G	1: 150,734,497	C1474R	probably damaging	Het
Igkv1-99	G	T	6: 68,542,386	G109V		Het
Izumo3	T	C	4: 92,145,073		probably null	Het
Kremen1	T	C	11: 5,194,981	D465G	probably benign	Het
Ksr1	T	C	11: 79,146,056	E75G	probably benign	Het
Mmp17	G	T	5: 129,598,709	E311*	probably null	Het
Mmrn1	T	A	6: 60,988,287	F1101I	probably damaging	Het
Muc13	G	A	16: 33,812,917		probably benign	Het
Myl4	T	A	11: 104,584,577	M147K	probably damaging	Het
Myo1a	T	A	10: 127,710,987	N334K	probably benign	Het
Nptxr	T	C	15: 79,794,454	N211D	probably damaging	Het
Ntf5	A	G	7: 45,416,061	T206A	probably benign	Het
Obscn	T	A	11: 59,054,403	E4596D	probably benign	Het
Olfr1316	T	C	2: 112,130,082	H243R	probably damaging	Het
Olfr1426	T	C	19: 12,088,105	E229G	probably benign	Het
Olfr1469	A	T	19: 13,410,673	I35F	probably damaging	Het
Olfr860	A	T	9: 19,846,166	I151N	possibly damaging	Het
Olfr988	T	A	2: 85,353,734	Q64L	probably damaging	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Paip2	A	G	18: 35,616,220	N114D	possibly damaging	Het
Pcnx	T	C	12: 81,993,151	S2071P	possibly damaging	Het
Pcsk2	A	G	2: 143,795,950	T369A	probably damaging	Het
Ppp1r12b	A	C	1: 134,890,754		probably benign	Het
Ppp1r35	T	A	5: 137,779,469	D132E	possibly damaging	Het
Pramel7	A	T	2: 87,490,061	V296E	probably benign	Het
Prh1	C	T	6: 132,571,985	P152S	unknown	Het
Pygl	T	C	12: 70,195,616	T689A	probably damaging	Het
Rasgef1b	T	C	5: 99,221,410	S450G	probably benign	Het
Rtn4ip1	G	T	10: 43,907,846	R121L	probably damaging	Het
Scarf2	A	T	16: 17,802,831	H121L	probably damaging	Het
Selenbp1	C	A	3: 94,944,510	A454E	possibly damaging	Het
Slc7a9	A	G	7: 35,463,718	I449M	possibly damaging	Het
Snapc2	C	T	8: 4,255,558	H278Y	probably damaging	Het
Stambp	C	T	6: 83,547,230		probably null	Het
Syne1	T	C	10: 5,361,535	Y550C	probably damaging	Het
Tas2r113	T	C	6: 132,893,141	V44A	possibly damaging	Het
Trpv4	T	C	5: 114,634,755	T305A	probably benign	Het
Twf1	T	C	15: 94,581,255	Y241C	probably damaging	Het
Ugt2a3	T	C	5: 87,336,530	K212E	probably damaging	Het
Ush2a	A	T	1: 188,944,801	H4770L	probably benign	Het
Zfc3h1	T	C	10: 115,411,895	V1001A	probably benign	Het
Zfp335	C	T	2: 164,909,370	R92Q	probably benign	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
R8843:Myo3b	UTSW	2	70257981	missense	probably damaging	1.00
R8896:Myo3b	UTSW	2	70238816	missense	probably damaging	1.00
R8904:Myo3b	UTSW	2	70426908	missense	probably benign	0.07
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'- CAAAACAGTTTTGGAGTTGTGC -3'
(R):5'- TGATCACTCTAGGCCTCTGC -3'

Sequencing Primer
(F):5'- CACAGGTGCTTCTTGGAGTCAG -3'
(R):5'- GGGGACGACTTGCCATATG -3'

Posted On

2021-04-30