Mutagenetix > Incidental Mutation

Incidental Mutation 'R6265:Myo5b'

506980

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.670) question?

Stock #

R6265 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74440936-74771493 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 74577440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074157] [ENSMUST00000074157] [ENSMUST00000121875] [ENSMUST00000121875] [ENSMUST00000125882] [ENSMUST00000125882]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000074157

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885

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

probably null
Transcript: ENSMUST00000074157

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885

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 null
Transcript: ENSMUST00000121875

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885

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

probably null
Transcript: ENSMUST00000121875

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885

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

probably null
Transcript: ENSMUST00000125882

SMART Domains

Protein: ENSMUSP00000123123
Gene: ENSMUSG00000025885

Domain	Start	End	E-Value	Type
MYSc	61	183	8.63e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000125882

SMART Domains

Protein: ENSMUSP00000123123
Gene: ENSMUSG00000025885

Domain	Start	End	E-Value	Type
MYSc	61	183	8.63e-4	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	C	T	4: 137,454,675	P47L	probably damaging	Het
Acot1	T	C	12: 84,016,913	I265T	probably benign	Het
Amotl1	T	C	9: 14,571,655	D587G	possibly damaging	Het
Anks1b	T	G	10: 90,941,500	D1117E	probably damaging	Het
Art4	T	G	6: 136,854,888	N85T	probably damaging	Het
Asb3	C	A	11: 31,085,143	Q462K	probably benign	Het
Atcay	C	T	10: 81,213,280	E163K	possibly damaging	Het
Atp6v0e	T	C	17: 26,676,533	V20A	possibly damaging	Het
Atp7b	G	A	8: 22,015,927	Q520*	probably null	Het
Baat	A	T	4: 49,502,836	D95E	possibly damaging	Het
Cars2	TCCCC	TCCC	8: 11,529,599		probably null	Het
Ccdc24	G	A	4: 117,871,177	Q47*	probably null	Het
Cep170b	C	A	12: 112,744,559	Q1488K	probably damaging	Het
Cldn24	A	C	8: 47,822,339	D66A	probably benign	Het
Cln5	C	A	14: 103,073,227	T110K	probably damaging	Het
Clvs2	C	A	10: 33,528,515	S235I	possibly damaging	Het
Col5a3	C	T	9: 20,793,764	G730R	unknown	Het
Crim1	C	T	17: 78,370,085	P905L	probably benign	Het
Cxxc4	T	C	3: 134,258,063	V356A	probably benign	Het
Dctn6	G	T	8: 34,094,903	N93K	probably damaging	Het
Dnah9	G	A	11: 66,168,094	A125V	probably benign	Het
Dnhd1	T	C	7: 105,693,370	I1307T	probably benign	Het
Dpy19l1	T	A	9: 24,432,371	I493F	possibly damaging	Het
Ebf2	A	G	14: 67,424,060	I546V	probably benign	Het
Fbll1	T	C	11: 35,797,809	E209G	probably damaging	Het
Foxj2	G	A	6: 122,828,174	A2T	probably damaging	Het
Foxs1	A	T	2: 152,932,178	C318*	probably null	Het
Gorab	T	C	1: 163,386,630	T244A	possibly damaging	Het
Gtsf1l	C	A	2: 163,087,663		probably benign	Het
Herc1	T	C	9: 66,372,016	S69P	probably benign	Het
Hpca	C	T	4: 129,118,652	W30*	probably null	Het
Ing3	C	A	6: 21,953,814	Q85K	probably damaging	Het
Klhdc8b	T	C	9: 108,448,425	E264G	probably damaging	Het
Lair1	T	A	7: 4,055,827		probably benign	Het
Lama1	T	C	17: 67,750,655	Y575H	probably damaging	Het
Lamtor2	C	A	3: 88,550,713	G29*	probably null	Het
Loxhd1	A	T	18: 77,361,730	D341V	probably damaging	Het
Lrp2	T	A	2: 69,466,340	D3290V	probably damaging	Het
Matn2	A	T	15: 34,399,155	D396V	probably damaging	Het
Me3	T	A	7: 89,849,743	D510E	probably benign	Het
Melk	A	G	4: 44,318,109	Y170C	probably damaging	Het
Mgat2	T	C	12: 69,184,793	V47A	probably benign	Het
Mindy4	T	C	6: 55,301,064	I631T	probably damaging	Het
Myo7b	A	T	18: 31,998,150	D521E	probably damaging	Het
Nlrp9b	T	A	7: 20,062,683	F986I	probably benign	Het
Olfr1089	A	G	2: 86,732,955	L219P	probably damaging	Het
Patj	A	G	4: 98,469,567	D690G	probably benign	Het
Pias2	T	C	18: 77,097,258	S5P	probably damaging	Het
Reep4	A	T	14: 70,547,703	S150C	probably damaging	Het
Slc25a21	T	C	12: 57,196,900	R14G	probably benign	Het
Slc6a6	G	C	6: 91,754,915	R575T	probably damaging	Het
Speg	T	A	1: 75,406,679	Y886*	probably null	Het
Tas2r103	A	C	6: 133,036,531	F191V	probably damaging	Het
Tbc1d19	A	G	5: 53,837,924	D145G	probably benign	Het
Tex47	T	A	5: 7,305,461	I214N	probably damaging	Het
Tnnt3	A	T	7: 142,501,645	D3V	probably damaging	Het
Trdv2-1	T	G	14: 53,946,385	S24A	probably benign	Het
Ubr4	A	G	4: 139,452,640	D3377G	possibly damaging	Het
Ugt3a2	A	T	15: 9,361,579	D147V	probably damaging	Het
Usp9y	A	T	Y: 1,446,843	D103E	probably benign	Homo
Vmn1r168	A	G	7: 23,541,536	I273V	probably benign	Het
Vmn2r61	T	C	7: 42,266,491	I176T	probably benign	Het
Vmn2r8	T	A	5: 108,808,597	D53V	probably benign	Het
Zbtb8os	A	T	4: 129,335,982		probably benign	Het
Zfp551	C	T	7: 12,415,412	R690Q	probably 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
IGL01448:Myo5b	APN	18	74644090	missense	probably damaging	0.97
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
BB007:Myo5b	UTSW	18	74731754	missense	probably benign
BB017:Myo5b	UTSW	18	74731754	missense	probably benign
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	splice site	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
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
R7930:Myo5b	UTSW	18	74731754	missense	probably benign
R8013:Myo5b	UTSW	18	74760899	nonsense	probably null
R8271:Myo5b	UTSW	18	74627190	missense	probably damaging	1.00
R8312:Myo5b	UTSW	18	74733962	missense	probably damaging	1.00
R8383:Myo5b	UTSW	18	74643978	missense	probably benign	0.05
R8384:Myo5b	UTSW	18	74742202	missense	probably damaging	1.00
R8474:Myo5b	UTSW	18	74770340	missense	probably damaging	1.00
R8825:Myo5b	UTSW	18	74759098	missense	possibly damaging	0.79
R8846:Myo5b	UTSW	18	74707972	missense	probably benign	0.04
R9236:Myo5b	UTSW	18	74720863	missense	probably benign
R9283:Myo5b	UTSW	18	74644078	missense	probably benign	0.16
R9370:Myo5b	UTSW	18	74627175	missense	possibly damaging	0.54
R9506:Myo5b	UTSW	18	74744760	missense	possibly damaging	0.82
R9523:Myo5b	UTSW	18	74728897	missense	possibly damaging	0.89
R9622:Myo5b	UTSW	18	74714946	missense	probably damaging	0.99
R9676:Myo5b	UTSW	18	74759160	missense	probably benign	0.22
R9725:Myo5b	UTSW	18	74723770	missense	probably benign
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	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- GCCTGAGTCTCTCGTGTTTGATAC -3'
(R):5'- GTTGGATTCCAGGAAACGGAC -3'

Sequencing Primer
(F):5'- ATGTAATCAGTTCCACGTGGC -3'
(R):5'- CCAGGAAACGGACCTTTAAGTTATGC -3'

Posted On

2018-03-15