Mutagenetix > Incidental Mutation

Incidental Mutation 'R0494:Myo5b'

42701

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

038691-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.716) question?

Stock #

R0494 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74440936-74771493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74653967 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 481 (E481G)

Ref Sequence

ENSEMBL: ENSMUSP00000112728 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000074157
AA Change: E481G

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

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: E481G

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: E481G

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

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: E481G

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

Meta Mutation Damage Score

0.9569

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

97% (109/112)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	G	A	5: 9,420,723		probably null	Het
Aatf	T	C	11: 84,511,513	I116V	probably benign	Het
Abhd18	T	C	3: 40,916,688	F94S	probably damaging	Het
Adam28	T	A	14: 68,630,792		probably benign	Het
Amn1	A	T	6: 149,185,136		probably benign	Het
Arhgap32	T	C	9: 32,258,903	V993A	probably damaging	Het
Arhgap33	A	T	7: 30,524,496	S703T	probably damaging	Het
Arhgef1	T	C	7: 24,919,360		probably benign	Het
Atg2a	A	G	19: 6,253,377	Y1083C	probably damaging	Het
Atp2a3	T	C	11: 72,981,905	F760L	probably damaging	Het
B9d1	A	G	11: 61,512,445		probably benign	Het
Batf	C	T	12: 85,686,862		probably benign	Het
BC051019	T	A	7: 109,717,975	Y170F	probably benign	Het
Bphl	T	C	13: 34,037,771	*37Q	probably null	Het
Cab39l	T	C	14: 59,499,559	S43P	probably damaging	Het
Cad	A	G	5: 31,077,512		probably benign	Het
Cct4	T	G	11: 22,996,014	S119A	probably benign	Het
Cd163	G	A	6: 124,311,449	V280M	probably damaging	Het
Cd86	A	G	16: 36,618,637		probably benign	Het
Cdh23	G	A	10: 60,316,596		probably benign	Het
Cdhr5	A	G	7: 141,272,518	F145S	probably damaging	Het
Cdt1	T	C	8: 122,572,060	S479P	possibly damaging	Het
Ces2g	T	C	8: 104,966,567	V372A	probably benign	Het
Chrna3	T	C	9: 55,022,278	D92G	probably damaging	Het
Cndp1	A	G	18: 84,619,533	S359P	probably benign	Het
Cops4	A	G	5: 100,528,662	Q93R	probably damaging	Het
Dgka	G	C	10: 128,721,083		probably benign	Het
Dmp1	A	T	5: 104,212,208	D250V	probably damaging	Het
Dnajb2	C	T	1: 75,239,634		probably benign	Het
Dock9	T	C	14: 121,662,584	T113A	possibly damaging	Het
Egln3	T	A	12: 54,203,321	I81F	probably benign	Het
Elovl5	T	C	9: 77,960,917	V37A	probably benign	Het
Esco1	A	T	18: 10,594,940	N115K	probably benign	Het
Fat1	A	T	8: 44,950,542	N110I	probably damaging	Het
Fezf1	T	A	6: 23,246,055	K370N	probably damaging	Het
Galnt18	T	A	7: 111,554,564	K284N	probably damaging	Het
Glt8d1	C	A	14: 31,011,623	T355K	possibly damaging	Het
Gm13083	G	T	4: 143,616,156	V278F	probably benign	Het
Gm17455	G	A	10: 60,403,235	R93H	possibly damaging	Het
Gng8	T	A	7: 16,895,288	D46E	probably benign	Het
Gpx4	T	C	10: 80,056,177		probably benign	Het
Grk2	A	T	19: 4,291,319	N189K	probably damaging	Het
Grm5	T	C	7: 88,130,781	V1143A	probably benign	Het
Hibch	A	G	1: 52,902,896	E237G	possibly damaging	Het
Hipk2	C	T	6: 38,729,989	A682T	probably benign	Het
Hmcn1	G	T	1: 150,732,792		probably benign	Het
Htt	A	G	5: 34,821,844	D857G	possibly damaging	Het
Idh2	C	T	7: 80,098,257	A232T	probably damaging	Het
Igsf8	A	G	1: 172,318,698	E421G	probably benign	Het
Kif26a	T	A	12: 112,179,471		probably null	Het
Klhl26	T	C	8: 70,451,601	Y519C	probably damaging	Het
Lamc1	A	C	1: 153,246,936		probably null	Het
Mical3	A	T	6: 120,959,201	S1455T	possibly damaging	Het
Mitf	G	A	6: 97,994,429	G186S	probably benign	Het
Ms4a15	G	A	19: 10,981,358		probably benign	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Nbeal2	C	A	9: 110,627,187	V1686L	probably damaging	Het
Nedd4l	T	G	18: 65,173,021	S335A	possibly damaging	Het
Nos1	A	T	5: 117,905,474	N605Y	probably damaging	Het
Nyx	C	A	X: 13,487,269	T454K	probably benign	Het
Olfr666	A	G	7: 104,893,271	L119P	probably damaging	Het
Olfr972	T	A	9: 39,873,402	N42K	probably damaging	Het
Pcdhb12	T	A	18: 37,438,095	F765I	probably benign	Het
Pex3	C	T	10: 13,527,788	G330R	probably damaging	Het
Pfkfb1	T	C	X: 150,634,613	Y339H	probably damaging	Het
Pias1	G	A	9: 62,887,311	Q26*	probably null	Het
Pik3cg	C	A	12: 32,204,546	V481L	possibly damaging	Het
Plcg2	C	T	8: 117,556,104	T108M	probably damaging	Het
Pon2	G	A	6: 5,267,059		probably benign	Het
Ppef2	A	T	5: 92,253,093		probably benign	Het
Ptpn22	A	G	3: 103,860,455	K18E	probably damaging	Het
Pum2	C	T	12: 8,721,736	Q360*	probably null	Het
Rab10	A	C	12: 3,252,723		probably null	Het
Ranbp2	T	G	10: 58,467,432	S809A	possibly damaging	Het
Rbms2	A	G	10: 128,133,670	V348A	probably benign	Het
Rnf213	A	G	11: 119,426,012	E988G	possibly damaging	Het
Rnf213	A	T	11: 119,443,120	M3052L	probably damaging	Het
Rpl14	C	A	9: 120,574,362		probably benign	Het
Rplp0	A	G	5: 115,559,872	Y13C	possibly damaging	Het
Ryr1	A	G	7: 29,003,793		probably benign	Het
Sac3d1	T	C	19: 6,118,294	E98G	probably damaging	Het
Scn10a	T	A	9: 119,624,100	D1242V	probably damaging	Het
Scnn1b	T	C	7: 121,899,458	Y74H	probably damaging	Het
Serpinb3a	C	T	1: 107,047,482	W198*	probably null	Het
Sf3b4	C	A	3: 96,173,701	D108E	probably damaging	Het
Shprh	T	C	10: 11,157,191	V307A	probably damaging	Het
Slc2a2	A	G	3: 28,727,277	D458G	probably benign	Het
Spata5	G	C	3: 37,432,163	D345H	possibly damaging	Het
Strc	T	C	2: 121,379,533	D103G	probably damaging	Het
Synrg	T	C	11: 84,019,543	I923T	probably benign	Het
Tango6	G	T	8: 106,735,682		probably benign	Het
Tas2r106	A	G	6: 131,678,576	L104P	probably damaging	Het
Tat	C	T	8: 109,991,684	P67L	probably damaging	Het
Tln2	A	C	9: 67,355,197	S593A	probably benign	Het
Tmem94	A	G	11: 115,794,781		probably null	Het
Tppp3	G	A	8: 105,468,172	A109V	probably benign	Het
Trank1	T	C	9: 111,391,293	F2366S	probably benign	Het
Trpc5	T	A	X: 144,481,396	Y155F	probably damaging	Het
Trpv1	A	G	11: 73,260,442	T451A	probably benign	Het
Ttc9	C	A	12: 81,631,649	A82E	probably damaging	Het
Ttll11	T	A	2: 35,944,874	N180I	probably damaging	Het
Ttn	T	C	2: 76,736,399	N28050S	possibly damaging	Het
Vmn2r73	G	T	7: 85,872,932	H66Q	probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Wnt3	G	A	11: 103,812,315	C208Y	probably damaging	Het
Zfp521	C	A	18: 13,845,268	C696F	probably damaging	Het
Zfp521	T	C	18: 13,846,870	D162G	probably damaging	Het
Zfp869	A	T	8: 69,706,404	H506Q	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
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
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
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'- AGTCCAGACCTTCTGTGGCACTTAG -3'
(R):5'- TGCGGATGCTTCTTCCAGACAATC -3'

Sequencing Primer
(F):5'- GTGGCACTTAGCTGCCATC -3'
(R):5'- CAGCTAGGAGACTTCACTGGTTC -3'

Posted On

2013-05-23