Mutagenetix > Incidental Mutation

Incidental Mutation 'R4807:Myo3b'

370726

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

042426-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70039126-70429198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70105712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 99 (I99N)

Ref Sequence

ENSEMBL: ENSMUSP00000107860 (fasta)

Gene Model

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

AlphaFold

Q1EG27

Predicted Effect

probably damaging
Transcript: ENSMUST00000060208
AA Change: I178N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: I178N

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: I99N

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

SMART Domains

Protein: ENSMUSP00000107860
Gene: ENSMUSG00000042064
AA Change: I99N

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: I150N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: I150N

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

0.8990

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (86/88)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,540,609	A1499V	probably damaging	Het
Agap3	T	A	5: 24,477,116	D386E	probably damaging	Het
Ahdc1	C	A	4: 133,064,313	T955K	possibly damaging	Het
Ankrd9	A	G	12: 110,977,235	Y122H	probably benign	Het
Apc2	G	T	10: 80,314,362	R1721L	probably benign	Het
Arfgef3	A	G	10: 18,646,637	V547A	probably benign	Het
Arhgap42	T	C	9: 9,046,628	N203D	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Aspm	T	A	1: 139,477,919	F1515I	probably damaging	Het
Baz1a	T	C	12: 54,898,482	T1363A	probably benign	Het
Cacng3	C	T	7: 122,754,509	A72V	probably benign	Het
Casp8ap2	T	C	4: 32,644,505	C1193R	possibly damaging	Het
Ccr3	A	G	9: 124,029,297	Y223C	probably damaging	Het
Clcn3	C	A	8: 60,934,530	L201F	probably damaging	Het
Cltc	A	C	11: 86,701,076		probably benign	Het
Cyp19a1	G	T	9: 54,176,646	T86K	possibly damaging	Het
Ddx24	A	T	12: 103,419,461	F248L	probably damaging	Het
Ddx60	G	A	8: 61,979,338	V885I	probably damaging	Het
Dync2h1	T	C	9: 7,139,422	I1404M	probably benign	Het
Emilin2	A	T	17: 71,273,448	V761E	probably damaging	Het
Endou	C	T	15: 97,731,232	C13Y	probably benign	Het
Ep400	C	A	5: 110,695,578		probably null	Het
Fbxo33	C	A	12: 59,219,212	D90Y	probably damaging	Het
Fryl	A	G	5: 73,041,362	F2641L	probably benign	Het
Gbp2b	A	G	3: 142,598,245	I34V	probably benign	Het
Ghdc	T	C	11: 100,770,225	H38R	probably damaging	Het
Gm10722	T	C	9: 3,000,937	C6R	probably benign	Het
Gpr63	A	C	4: 25,007,446	M57L	probably benign	Het
Gprc5c	A	G	11: 114,864,498	S3G	probably damaging	Het
Grk4	A	T	5: 34,752,208	M539L	probably benign	Het
Gulo	C	T	14: 65,990,384	M366I	probably benign	Het
Heatr5a	T	C	12: 51,877,520	H1970R	probably damaging	Het
Hmbox1	T	C	14: 64,825,549		probably benign	Het
Ighg2b	T	C	12: 113,304,345		probably benign	Het
Il1b	A	T	2: 129,370,306	C9S	probably benign	Het
Itpkb	A	T	1: 180,334,875		probably benign	Het
Kcnn1	T	A	8: 70,848,178	H473L	probably damaging	Het
Kidins220	C	T	12: 25,057,285	S1579L	probably damaging	Het
Kif1b	A	T	4: 149,247,921		probably benign	Het
Lyg2	A	T	1: 37,911,067	M60K	possibly damaging	Het
Mak16	G	T	8: 31,166,133	H107Q	probably benign	Het
Mapkap1	G	A	2: 34,597,422		probably null	Het
Mastl	A	G	2: 23,132,843	S623P	probably benign	Het
Mccc1	T	C	3: 35,985,046	Y46C	probably damaging	Het
Mdn1	T	G	4: 32,685,651		probably null	Het
Med25	T	A	7: 44,884,619	T31S	probably benign	Het
Mprip	G	A	11: 59,758,020	G850D	probably benign	Het
Mrpl10	T	C	11: 97,041,623	I8T	probably benign	Het
Msr1	T	C	8: 39,642,627		probably benign	Het
Neurod6	A	T	6: 55,678,655	N332K	probably damaging	Het
Npc1l1	T	C	11: 6,218,723	Y886C	probably damaging	Het
Nsmaf	T	C	4: 6,398,542		probably null	Het
Ntn4	C	T	10: 93,644,500	R29C	probably damaging	Het
Olfr74	T	A	2: 87,973,751	I305L	probably benign	Het
Plppr2	A	G	9: 21,944,514	N261S	probably damaging	Het
Prkar2a	T	A	9: 108,740,385		probably benign	Het
Pxk	G	A	14: 8,144,133	V294M	probably damaging	Het
Rars	A	G	11: 35,809,146	F608L	possibly damaging	Het
Rasa3	A	G	8: 13,614,633	F60L	probably damaging	Het
Rbm47	C	T	5: 66,019,304	A490T	possibly damaging	Het
Sardh	T	C	2: 27,189,527	I918V	probably benign	Het
Sdhc	T	C	1: 171,136,057	Y80C	probably damaging	Het
Selp	T	A	1: 164,143,936	M653K	probably damaging	Het
Slc6a17	T	C	3: 107,500,487	D56G	possibly damaging	Het
Slco1b2	T	C	6: 141,669,469	S367P	probably damaging	Het
Spry4	TTGAGGTCC	T	18: 38,590,275		probably null	Het
Strip2	T	A	6: 29,925,093	Y143*	probably null	Het
Sycp2	T	C	2: 178,393,961		probably benign	Het
Tex30	C	A	1: 44,086,958	V204L	possibly damaging	Het
Tex45	A	G	8: 3,479,004	K193R	possibly damaging	Het
Tln2	G	T	9: 67,331,733	T1087K	probably benign	Het
Tmeff2	A	C	1: 50,979,387	N176T	probably benign	Het
Togaram2	C	G	17: 71,697,923	T324R	probably damaging	Het
Trpc3	C	T	3: 36,634,382	R836Q	probably benign	Het
Trpm7	A	C	2: 126,831,229	L535V	probably benign	Het
Vmn1r213	G	A	13: 23,011,605	W119*	probably null	Het
Vps29	T	G	5: 122,362,888	V176G	probably damaging	Het
Vsig10l	A	G	7: 43,463,749	T144A	possibly damaging	Het
Wdr11	T	C	7: 129,628,022	Y844H	probably benign	Het
Zbp1	A	T	2: 173,212,206	M174K	probably damaging	Het
Zfp341	G	A	2: 154,645,866		probably benign	Het
Zfp638	G	A	6: 83,943,058	R546H	probably damaging	Het
Zfp820	A	T	17: 21,823,872	M1K	probably null	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
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
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'- TGGCTTAGCACGTGAACTATGG -3'
(R):5'- CAAAGGGCATCTGGAAAGCC -3'

Sequencing Primer
(F):5'- CACGTGAACTATGGAGAGTAAACTTC -3'
(R):5'- GCATCTGGAAAGCCCCCTC -3'

Posted On

2016-02-04