Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01448:Myo5b'

84501

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.715) question?

Stock #

IGL01448

Quality Score

Status

Chromosome

Chromosomal Location

74440936-74771493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74644090 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 407 (H407R)

Ref Sequence

ENSEMBL: ENSMUSP00000112728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074157] [ENSMUST00000121875]

Predicted Effect

probably damaging
Transcript: ENSMUST00000074157
AA Change: H407R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: H407R

Domain	Start	End	E-Value	Type
MYSc	63	763	N/A	SMART
IQ	764	786	2.41e-4	SMART
IQ	787	809	7.7e-3	SMART
IQ	812	834	2.18e-2	SMART
IQ	835	857	1.72e0	SMART
IQ	860	882	7.52e-6	SMART
IQ	883	905	4.12e-3	SMART
low complexity region	1053	1065	N/A	INTRINSIC
coiled coil region	1140	1261	N/A	INTRINSIC
coiled coil region	1311	1415	N/A	INTRINSIC
DIL	1650	1755	7.48e-51	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120161

Predicted Effect

probably damaging
Transcript: ENSMUST00000121875
AA Change: H407R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: H407R

Domain	Start	End	E-Value	Type
MYSc	63	763	N/A	SMART
IQ	764	786	2.41e-4	SMART
IQ	787	809	7.7e-3	SMART
IQ	812	834	2.18e-2	SMART
IQ	835	857	1.72e0	SMART
IQ	860	882	7.52e-6	SMART
IQ	883	905	4.12e-3	SMART
low complexity region	1053	1065	N/A	INTRINSIC
coiled coil region	1140	1261	N/A	INTRINSIC
coiled coil region	1332	1441	N/A	INTRINSIC
DIL	1676	1781	7.48e-51	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125751

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice show perinatal mortality, diarrhea, intestinal microvillus atrophy and the presence of microvillus inclusion bodies, resembling phenotype of Microvillus Inclusion Disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	T	2: 130,405,847	E75D	possibly damaging	Het
1700084J12Rik	A	G	15: 33,405,633		probably benign	Het
2610303G11Rik	T	A	9: 98,186,709		noncoding transcript	Het
4931414P19Rik	T	C	14: 54,585,960	D320G	possibly damaging	Het
Adamts6	G	A	13: 104,297,164	E34K	probably damaging	Het
Alms1	T	A	6: 85,677,899	N3142K	possibly damaging	Het
Anapc7	G	A	5: 122,428,213	A62T	probably damaging	Het
Atp8b3	G	A	10: 80,520,422	P1152L	probably benign	Het
Cc2d2a	C	T	5: 43,684,185	T181I	possibly damaging	Het
Celsr2	A	G	3: 108,393,239	L2835P	probably damaging	Het
Ctns	A	T	11: 73,188,722	V99D	possibly damaging	Het
Dchs1	T	C	7: 105,771,927	R429G	probably damaging	Het
Ddx11	T	C	17: 66,134,137	V218A	probably damaging	Het
Eftud2	G	A	11: 102,865,563		probably benign	Het
Erich1	G	T	8: 14,078,853	T29N	possibly damaging	Het
Exosc8	T	C	3: 54,729,265	E215G	probably damaging	Het
Fam184a	G	T	10: 53,698,949	A188E	probably benign	Het
Fign	A	G	2: 63,979,688	S413P	probably damaging	Het
Fkbp6	A	G	5: 135,349,696	S33P	probably damaging	Het
Glb1	A	G	9: 114,450,677		probably benign	Het
H2-Q1	T	C	17: 35,323,461		probably benign	Het
Helz2	T	C	2: 181,233,977	T1575A	probably damaging	Het
Il18r1	A	G	1: 40,474,730	E32G	probably damaging	Het
Ints5	C	T	19: 8,895,487	P270L	possibly damaging	Het
Itga7	G	T	10: 128,949,468	E847*	probably null	Het
Kcns3	A	C	12: 11,091,643	S352A	possibly damaging	Het
Kiz	A	G	2: 146,863,801	K94E	probably benign	Het
Lin7b	C	T	7: 45,369,200	V12M	probably damaging	Het
Myo18b	A	T	5: 112,811,704	I1409N	probably damaging	Het
Nelfa	T	C	5: 33,898,802	T506A	probably damaging	Het
Olfr497	T	A	7: 108,423,028	Y152*	probably null	Het
Olfr763	A	G	10: 129,011,860	T192A	probably damaging	Het
Olfr816	A	G	10: 129,912,245	I11T	possibly damaging	Het
Olfr984	A	T	9: 40,101,082	M136K	probably damaging	Het
Pclo	A	C	5: 14,676,394		probably benign	Het
Pes1	G	A	11: 3,977,979	E544K	possibly damaging	Het
Rabgap1l	A	G	1: 160,740,745		probably benign	Het
Rapgef2	C	T	3: 79,103,962		probably null	Het
Rapgef2	T	C	3: 79,068,937	M1521V	probably benign	Het
Reln	A	G	5: 22,040,405	V735A	probably benign	Het
Slc2a4	A	G	11: 69,945,076	S316P	possibly damaging	Het
Smarce1	C	T	11: 99,210,187	G373E	possibly damaging	Het
Spata31d1a	T	A	13: 59,701,559	R918S	probably benign	Het
St3gal4	T	C	9: 35,052,331	K227R	probably benign	Het
Stra6l	T	A	4: 45,864,864		probably null	Het
Stxbp5l	T	C	16: 37,215,979	I425V	probably damaging	Het
Tcaf2	T	C	6: 42,630,328	T231A	probably benign	Het
Tiparp	G	T	3: 65,552,609	G442*	probably null	Het
Tnks	A	G	8: 34,839,982	Y1138H	probably damaging	Het
Vezt	T	A	10: 93,996,857	I231F	probably damaging	Het
Vmn2r4	A	T	3: 64,406,395	N388K	probably damaging	Het
Zbed3	A	G	13: 95,336,634	K189E	possibly damaging	Het
Zfp512b	T	C	2: 181,587,785	T625A	possibly damaging	Het
Zfp827	A	T	8: 79,060,733	Q176L	possibly damaging	Het

Other mutations in Myo5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00798:Myo5b	APN	18	74654076	splice site	probably benign
IGL01083:Myo5b	APN	18	74733903	splice site	probably benign
IGL01516:Myo5b	APN	18	74627195	missense	probably damaging	0.99
IGL01525:Myo5b	APN	18	74740549	missense	probably damaging	1.00
IGL01873:Myo5b	APN	18	74580396	missense	probably damaging	1.00
IGL01887:Myo5b	APN	18	74714936	missense	probably benign	0.41
IGL01953:Myo5b	APN	18	74569767	missense	possibly damaging	0.62
IGL01976:Myo5b	APN	18	74698277	missense	probably damaging	1.00
IGL02017:Myo5b	APN	18	74716999	missense	probably damaging	1.00
IGL02331:Myo5b	APN	18	74638040	critical splice acceptor site	probably null
IGL02624:Myo5b	APN	18	74714939	missense	probably damaging	0.98
IGL02707:Myo5b	APN	18	74695367	splice site	probably benign
IGL02806:Myo5b	APN	18	74617080	critical splice donor site	probably null
IGL03009:Myo5b	APN	18	74760968	missense	possibly damaging	0.54
IGL03061:Myo5b	APN	18	74634559	missense	probably benign	0.02
IGL03061:Myo5b	APN	18	74580544	splice site	probably benign
unrat	UTSW	18	74653361	missense	possibly damaging	0.93
R0085:Myo5b	UTSW	18	74701680	missense	probably benign	0.21
R0114:Myo5b	UTSW	18	74742171	missense	probably benign	0.03
R0226:Myo5b	UTSW	18	74742180	missense	probably benign
R0242:Myo5b	UTSW	18	74661716	missense	possibly damaging	0.95
R0242:Myo5b	UTSW	18	74661716	missense	possibly damaging	0.95
R0471:Myo5b	UTSW	18	74728954	splice site	probably benign
R0494:Myo5b	UTSW	18	74653967	missense	probably damaging	1.00
R0920:Myo5b	UTSW	18	74625641	missense	probably benign	0.09
R1144:Myo5b	UTSW	18	74625587	missense	probably damaging	1.00
R1177:Myo5b	UTSW	18	74644072	missense	probably damaging	1.00
R1387:Myo5b	UTSW	18	74644201	splice site	probably benign
R1468:Myo5b	UTSW	18	74740503	missense	probably damaging	0.99
R1468:Myo5b	UTSW	18	74740503	missense	probably damaging	0.99
R1555:Myo5b	UTSW	18	74569782	missense	probably damaging	1.00
R1587:Myo5b	UTSW	18	74733990	missense	probably benign
R1600:Myo5b	UTSW	18	74713540	unclassified	probably benign
R1639:Myo5b	UTSW	18	74707916	missense	probably benign	0.19
R1779:Myo5b	UTSW	18	74742147	missense	probably benign	0.06
R1806:Myo5b	UTSW	18	74577609	missense	possibly damaging	0.91
R1929:Myo5b	UTSW	18	74733925	missense	probably damaging	0.99
R2046:Myo5b	UTSW	18	74577455	missense	probably benign	0.28
R2093:Myo5b	UTSW	18	74759192	missense	probably damaging	0.98
R2270:Myo5b	UTSW	18	74733925	missense	probably damaging	0.99
R2272:Myo5b	UTSW	18	74733925	missense	probably damaging	0.99
R2298:Myo5b	UTSW	18	74625605	missense	probably damaging	1.00
R2433:Myo5b	UTSW	18	74759087	missense	probably damaging	1.00
R2888:Myo5b	UTSW	18	74762618	missense	probably damaging	1.00
R3824:Myo5b	UTSW	18	74661655	missense	probably benign	0.41
R3937:Myo5b	UTSW	18	74716037	missense	probably damaging	0.98
R3938:Myo5b	UTSW	18	74716037	missense	probably damaging	0.98
R3947:Myo5b	UTSW	18	74695403	missense	probably damaging	1.00
R3971:Myo5b	UTSW	18	74740527	missense	probably damaging	1.00
R3972:Myo5b	UTSW	18	74740527	missense	probably damaging	1.00
R3974:Myo5b	UTSW	18	74634481	missense	probably damaging	1.00
R4027:Myo5b	UTSW	18	74759240	missense	possibly damaging	0.67
R4080:Myo5b	UTSW	18	74740488	missense	probably benign
R4285:Myo5b	UTSW	18	74714849	missense	probably benign
R4308:Myo5b	UTSW	18	74731740	missense	possibly damaging	0.89
R4411:Myo5b	UTSW	18	74698274	missense	possibly damaging	0.89
R4415:Myo5b	UTSW	18	74580408	missense	probably damaging	1.00
R4516:Myo5b	UTSW	18	74625674	missense	probably damaging	1.00
R4690:Myo5b	UTSW	18	74722462	missense	probably damaging	0.97
R4781:Myo5b	UTSW	18	74744681	missense	possibly damaging	0.80
R4786:Myo5b	UTSW	18	74695380	missense	probably benign	0.01
R4796:Myo5b	UTSW	18	74744630	missense	possibly damaging	0.68
R4924:Myo5b	UTSW	18	74695384	missense	probably benign	0.19
R4972:Myo5b	UTSW	18	74627193	missense	probably damaging	0.98
R5004:Myo5b	UTSW	18	74744773	critical splice donor site	probably null
R5024:Myo5b	UTSW	18	74716034	missense	possibly damaging	0.90
R5043:Myo5b	UTSW	18	74638153	critical splice donor site	probably null
R5187:Myo5b	UTSW	18	74701674	missense	possibly damaging	0.68
R5232:Myo5b	UTSW	18	74714932	missense	probably damaging	0.99
R5254:Myo5b	UTSW	18	74700606	missense	possibly damaging	0.65
R5255:Myo5b	UTSW	18	74662670	missense	possibly damaging	0.94
R5715:Myo5b	UTSW	18	74742175	missense	possibly damaging	0.88
R5733:Myo5b	UTSW	18	74654057	missense	possibly damaging	0.93
R5797:Myo5b	UTSW	18	74701521	missense	probably benign
R5875:Myo5b	UTSW	18	74707902	synonymous	probably null
R6088:Myo5b	UTSW	18	74720898	missense	possibly damaging	0.89
R6104:Myo5b	UTSW	18	74700679	missense	probably benign	0.19
R6237:Myo5b	UTSW	18	74742178	missense	probably damaging	1.00
R6265:Myo5b	UTSW	18	74577440	splice site	probably null
R6267:Myo5b	UTSW	18	74616991	missense	probably damaging	1.00
R6328:Myo5b	UTSW	18	74616993	missense	probably damaging	1.00
R6330:Myo5b	UTSW	18	74616993	missense	probably damaging	1.00
R6331:Myo5b	UTSW	18	74616993	missense	probably damaging	1.00
R6347:Myo5b	UTSW	18	74770385	missense	probably benign	0.11
R6479:Myo5b	UTSW	18	74617015	missense	probably damaging	1.00
R6748:Myo5b	UTSW	18	74701503	missense	possibly damaging	0.80
R6749:Myo5b	UTSW	18	74701503	missense	possibly damaging	0.80
R6750:Myo5b	UTSW	18	74617035	missense	possibly damaging	0.74
R6833:Myo5b	UTSW	18	74770325	missense	probably benign
R6876:Myo5b	UTSW	18	74707955	missense	probably benign
R6880:Myo5b	UTSW	18	74722430	missense	probably benign	0.02
R6902:Myo5b	UTSW	18	74676685	missense	possibly damaging	0.95
R6985:Myo5b	UTSW	18	74653361	missense	possibly damaging	0.93
R7039:Myo5b	UTSW	18	74701528	missense	probably benign	0.01
R7162:Myo5b	UTSW	18	74695427	missense	probably benign	0.02
R7345:Myo5b	UTSW	18	74708024	missense	possibly damaging	0.82
R7530:Myo5b	UTSW	18	74731731	missense	probably benign	0.00
R7564:Myo5b	UTSW	18	74634511	missense	possibly damaging	0.84
R7629:Myo5b	UTSW	18	74627254	critical splice donor site	probably null
R7635:Myo5b	UTSW	18	74580396	missense	probably damaging	1.00
R7670:Myo5b	UTSW	18	74701446	missense	probably benign	0.05
R7754:Myo5b	UTSW	18	74634559	missense	probably benign	0.02
R8013:Myo5b	UTSW	18	74760899	nonsense	probably null
RF009:Myo5b	UTSW	18	74643999	missense	probably damaging	1.00
Z1088:Myo5b	UTSW	18	74744749	missense	probably benign	0.35
Z1177:Myo5b	UTSW	18	74617017	missense	not run

Posted On

2013-11-11