Mutagenetix > Incidental Mutations

Incidental Mutation 'R6328:Myo5b'

510835

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.634) question?

Stock #

R6328 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74440936-74771493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74616993 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 176 (A176T)

Ref Sequence

ENSEMBL: ENSMUSP00000073790 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000074157
AA Change: A176T

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

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: A176T

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: A176T

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: A176T

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
AA Change: A174T

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123123
Gene: ENSMUSG00000025885
AA Change: A174T

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

Meta Mutation Damage Score

0.1112

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (57/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,602,436		probably benign	Het
Abcb10	G	A	8: 123,962,017	R507W	probably damaging	Het
Actg1	T	C	11: 120,347,760	D80G	possibly damaging	Het
Actr5	A	G	2: 158,635,344	D405G	possibly damaging	Het
Ahnak	C	T	19: 9,007,148	T1932I	probably benign	Het
Ankk1	T	A	9: 49,416,071	T603S	possibly damaging	Het
Atp13a3	A	T	16: 30,336,235	F964I	probably damaging	Het
Atp6v1g3	A	G	1: 138,287,832	T77A	probably benign	Het
Bccip	A	G	7: 133,717,774	H198R	probably damaging	Het
Bsx	A	T	9: 40,874,223	R16W	probably damaging	Het
Ccdc88b	C	T	19: 6,849,038	R1103Q	probably damaging	Het
Cd59a	A	C	2: 104,110,758	Y27S	probably damaging	Het
Cdk20	A	G	13: 64,436,599	H162R	probably damaging	Het
Col6a2	C	T	10: 76,614,378	E240K	possibly damaging	Het
Ddr2	A	G	1: 169,987,065	V603A	possibly damaging	Het
Dgkz	A	G	2: 91,942,635	V359A	probably benign	Het
Dis3l2	T	A	1: 86,854,431	S223T	probably benign	Het
Dpysl4	A	G	7: 139,099,818	S535G	probably benign	Het
Dsp	A	T	13: 38,197,006	K1977*	probably null	Het
Dync2h1	A	T	9: 7,165,717	S515T	probably benign	Het
Epg5	A	G	18: 78,028,964	E2397G	possibly damaging	Het
Fam83d	G	A	2: 158,785,176	G262S	probably damaging	Het
Frmd4a	A	T	2: 4,590,698	T477S	probably damaging	Het
Gbp3	A	G	3: 142,569,058	E382G	probably benign	Het
Gltp	A	T	5: 114,670,511	C157S	possibly damaging	Het
Grb10	A	G	11: 11,937,905	S378P	probably damaging	Het
Gulo	G	T	14: 66,002,631	T126K	probably damaging	Het
H2-M10.6	T	A	17: 36,813,944	M251K	probably damaging	Het
Hecw1	T	C	13: 14,247,620	D967G	possibly damaging	Het
Htr3b	A	T	9: 48,947,633	D68E	probably damaging	Het
Igkv5-39	G	T	6: 69,900,505	S89*	probably null	Het
Kctd4	C	A	14: 75,962,597		probably benign	Het
Lmna	T	C	3: 88,486,506	Q255R	probably damaging	Het
Lsmem1	A	G	12: 40,180,657	I82T	possibly damaging	Het
Lyg2	T	A	1: 37,911,113	M45L	probably benign	Het
Nudt5	A	T	2: 5,864,437	K158I	possibly damaging	Het
Nufip1	C	T	14: 76,111,054	P41L	possibly damaging	Het
Olfr1307	A	T	2: 111,945,394	W21R	probably null	Het
Olfr618	A	T	7: 103,597,866	E183D	probably damaging	Het
Pcp2	T	C	8: 3,624,887	D22G	probably damaging	Het
Pdk2	G	C	11: 95,039,402	N69K	possibly damaging	Het
Pdlim7	G	T	13: 55,508,092		probably benign	Het
Ptprc	C	A	1: 138,113,678	E148*	probably null	Het
Rassf5	A	T	1: 131,180,668	V225E	probably damaging	Het
Rbm6	A	T	9: 107,787,259	M725K	probably benign	Het
Scn1a	T	A	2: 66,273,316	I1867F	probably damaging	Het
Sdk2	T	A	11: 113,793,755	Q1960L	probably damaging	Het
Setx	A	G	2: 29,174,462		probably benign	Het
Sgo2b	T	A	8: 63,928,311	R496*	probably null	Het
Slco1a1	C	T	6: 141,932,450	V222I	probably damaging	Het
Sntg2	A	C	12: 30,258,014	L224R	probably damaging	Het
Syt16	C	A	12: 74,266,693	C464*	probably null	Het
Tapbpl	T	A	6: 125,224,918	S420C	probably benign	Het
Tax1bp1	A	G	6: 52,746,709	E528G	probably benign	Het
Tmem168	T	C	6: 13,602,711	T219A	probably benign	Het
Zfp180	T	C	7: 24,105,556	F467L	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
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
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
Z1088:Myo5b	UTSW	18	74744749	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- CCCATTTTCAGAGCTTATGTAGACC -3'
(R):5'- TGCCTAAGTGAGCTGCTTCAG -3'

Sequencing Primer
(F):5'- GAGGGCAGACTTTACAGTTATCCAC -3'
(R):5'- AGCGATTCTCTTCATAGCCCATG -3'

Posted On

2018-04-02