Mutagenetix > Incidental Mutations

Incidental Mutation 'R6750:Myo5b'

530741

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.824) question?

Stock #

R6750 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74440936-74771493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74617035 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 190 (T190S)

Ref Sequence

ENSEMBL: ENSMUSP00000112728 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074157
AA Change: T190S

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: T190S

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

possibly damaging
Transcript: ENSMUST00000121875
AA Change: T190S

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: T190S

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 benign
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: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	A	T	17: 33,066,398	S477T	possibly damaging	Het
5430419D17Rik	T	A	7: 131,288,245		probably benign	Het
Adal	A	T	2: 121,142,649	L62F	probably damaging	Het
Akap13	C	T	7: 75,739,458	P2375S	probably benign	Het
Apob	T	A	12: 7,997,853	L931Q	probably damaging	Het
Arcn1	A	G	9: 44,750,394	V391A	possibly damaging	Het
Ccdc162	A	T	10: 41,561,226	I1729N	possibly damaging	Het
Cd24a	T	C	10: 43,582,725	L86P	unknown	Het
Churc1	C	A	12: 76,775,631	H71Q	probably damaging	Het
Clcn3	A	G	8: 60,914,775	L780P	possibly damaging	Het
Cldn17	C	T	16: 88,506,307	G178E	possibly damaging	Het
Cmah	A	G	13: 24,464,252	Y345C	probably damaging	Het
Cntnap5b	C	T	1: 100,274,499	S357L	probably damaging	Het
Col6a6	A	G	9: 105,783,680	I410T	probably damaging	Het
Crmp1	T	C	5: 37,265,322		probably null	Het
Csmd2	A	C	4: 128,197,225	N186H	possibly damaging	Het
Cyp1a1	A	T	9: 57,700,256	M56L	probably benign	Het
D2hgdh	G	C	1: 93,826,407	R56P	probably benign	Het
Dapk2	A	G	9: 66,220,752	E104G	probably damaging	Het
Dld	T	C	12: 31,332,214	N498S	probably benign	Het
Dyrk4	G	T	6: 126,898,955	Q106K	probably benign	Het
Eif2b4	T	C	5: 31,189,960	I333V	probably damaging	Het
F5	A	G	1: 164,193,507	T1184A	possibly damaging	Het
Fbxl6	C	T	15: 76,538,412	G102D	probably damaging	Het
Foxa1	C	T	12: 57,542,610	G275R	probably benign	Het
Fryl	A	G	5: 73,022,232	I2944T	probably damaging	Het
Gm597	C	A	1: 28,777,414	E512D	probably damaging	Het
Gna15	T	C	10: 81,514,283	D95G	probably benign	Het
Greb1	T	A	12: 16,688,583	M1460L	probably benign	Het
Herc1	TCCC	TCC	9: 66,501,188		probably null	Het
Herc2	T	C	7: 56,097,447	I444T	probably damaging	Het
Ifngr1	T	A	10: 19,609,351	M366K	probably benign	Het
Krt27	C	T	11: 99,348,980	E253K	probably damaging	Het
Micalcl	C	T	7: 112,381,839	T406I	probably damaging	Het
Mocs2	T	G	13: 114,826,248	D156E	probably damaging	Het
Mprip	A	T	11: 59,696,131	K43N	probably damaging	Het
Naa25	C	T	5: 121,408,309	T86M	probably damaging	Het
Ncam1	T	C	9: 49,567,339	D163G	probably damaging	Het
Nlrp4f	A	T	13: 65,181,654	Y908*	probably null	Het
Nlrp9b	T	A	7: 20,023,234	L132*	probably null	Het
Nrg1	A	C	8: 31,818,096	S679A	probably damaging	Het
Olfr3	C	A	2: 36,812,942	R50M	possibly damaging	Het
Olfr656	C	T	7: 104,618,113	R145C	probably damaging	Het
Paqr9	A	T	9: 95,560,997	T347S	probably damaging	Het
Pcdhb21	T	C	18: 37,514,448	L210P	probably damaging	Het
Pdzd7	T	G	19: 45,027,748	D978A	probably benign	Het
Pkd1l1	A	T	11: 8,973,217	S17T	unknown	Het
Plcz1	T	C	6: 140,028,438	K93E	possibly damaging	Het
Pom121l2	G	C	13: 21,981,937	R126P	probably damaging	Het
Prkg1	C	T	19: 31,764,561	E88K	probably benign	Het
Psme4	A	T	11: 30,853,203	D15V	probably damaging	Het
Ptprf	A	G	4: 118,231,731	V625A	probably benign	Het
Rab27a	G	A	9: 73,085,008	S106N	probably damaging	Het
Rasa4	A	G	5: 136,100,948	T261A	probably benign	Het
Sardh	T	C	2: 27,228,257	D487G	probably benign	Het
Sec16a	A	G	2: 26,440,018	Y662H	probably benign	Het
Sema3d	T	A	5: 12,585,100	L711*	probably null	Het
Sept14	T	A	5: 129,696,117	Y152F	probably damaging	Het
Smc5	A	G	19: 23,242,640	L411P	probably damaging	Het
Spg7	T	A	8: 123,073,911	V39E	probably damaging	Het
Tas2r117	A	G	6: 132,802,854		probably benign	Het
Tle1	A	T	4: 72,122,450	I631N	probably damaging	Het
Tmed3	T	A	9: 89,699,790	S207C	probably damaging	Het
Tmem59l	G	A	8: 70,486,372	P51S	probably benign	Het
Trpc3	A	G	3: 36,624,393	Y848H	probably damaging	Het
Tsen2	T	C	6: 115,549,920	F66S	probably damaging	Het
Ttll5	T	A	12: 85,956,610	S216R	probably damaging	Het
Usp22	A	T	11: 61,157,216	V426E	probably damaging	Het
Vmn2r76	T	C	7: 86,225,906	N621S	probably damaging	Het
Wdr75	A	G	1: 45,817,379	T521A	probably damaging	Het
Wrnip1	T	A	13: 32,802,756	D173E	probably damaging	Het
Zfp317	G	A	9: 19,647,804	G438D	probably damaging	Het
Zscan10	T	A	17: 23,607,190	S109T	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
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
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
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
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'- GATGCTTCTCACCAGGTTACCC -3'
(R):5'- ATCTTTAACCCTGGGTTTCAGAGG -3'

Sequencing Primer
(F):5'- ACATCAGAGTCCCTGGCAG -3'
(R):5'- TGGGTTTCAGAGGTACCTCCAC -3'

Posted On

2018-08-01