Mutagenetix > Incidental Mutation

Incidental Mutation 'R7635:Myo5b'

589934

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

045694-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.707) question?

Stock #

R7635 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74440936-74771493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74580396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 104 (V104E)

Ref Sequence

ENSEMBL: ENSMUSP00000123123 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000074157
AA Change: V106E

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

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: V106E

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: V106E

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

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: V106E

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 damaging
Transcript: ENSMUST00000125882
AA Change: V104E

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

SMART Domains

Protein: ENSMUSP00000123123
Gene: ENSMUSG00000025885
AA Change: V104E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	C	9: 108,397,406	D236A	probably damaging	Het
2410089E03Rik	A	G	15: 8,226,920	I1955V	probably benign	Het
4833423E24Rik	T	A	2: 85,500,237	H242L	probably benign	Het
Adamts7	C	T	9: 90,195,245	P1322S	probably damaging	Het
AI661453	A	T	17: 47,467,751	T801S	unknown	Het
Alpk1	A	G	3: 127,695,661	V123A	probably benign	Het
Ap2b1	T	C	11: 83,389,728	V827A	probably benign	Het
Aqp5	T	A	15: 99,594,178	I219N	probably benign	Het
Astn1	G	A	1: 158,667,535	W1051*	probably null	Het
Atp8b1	T	C	18: 64,573,305	D211G	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
Bsn	A	G	9: 108,110,990	V2521A	unknown	Het
Car7	T	C	8: 104,548,437	V169A	probably damaging	Het
Catip	T	A	1: 74,368,962	D484E	unknown	Het
Ccdc18	T	C	5: 108,229,049		probably null	Het
Cdyl	T	C	13: 35,871,651	V518A	probably damaging	Het
Cep350	A	T	1: 155,879,021	C1949*	probably null	Het
Cinp	A	G	12: 110,884,013	V18A	possibly damaging	Het
Clec14a	A	G	12: 58,268,528	C103R	probably damaging	Het
Dnah8	G	C	17: 30,785,107	E3655Q	probably damaging	Het
Dnajc11	T	C	4: 151,968,611	I164T	probably damaging	Het
Dnajc13	A	T	9: 104,162,367	M2101K	probably benign	Het
Ephb4	A	G	5: 137,372,103	D864G	probably damaging	Het
Fkbp5	T	C	17: 28,428,361	T167A	probably benign	Het
Foxf2	C	A	13: 31,626,104	P9T	unknown	Het
Frmpd2	C	A	14: 33,500,963	H105N	possibly damaging	Het
Gal3st3	C	A	19: 5,307,406	R270S	probably damaging	Het
Galnt13	A	G	2: 54,857,817	I237V	probably damaging	Het
Gata5	G	T	2: 180,333,997	Q125K	possibly damaging	Het
Gm10036	T	A	18: 15,833,289	F166I	possibly damaging	Het
Gm13084	T	C	4: 143,810,417	E448G	probably damaging	Het
Gon4l	A	G	3: 88,895,106	N1008S	probably benign	Het
Got1l1	G	A	8: 27,197,934	L356F	probably damaging	Het
Gse1	A	G	8: 120,572,895	E888G	unknown	Het
Hmx1	C	A	5: 35,392,239	P292Q	possibly damaging	Het
Igkv7-33	A	T	6: 70,059,154	S16T	probably benign	Het
Itga2b	C	T	11: 102,461,756	G424D	probably damaging	Het
Itga6	A	T	2: 71,843,233	K870N	probably benign	Het
Lama4	A	T	10: 39,092,188	Q1442L	probably benign	Het
Lamc1	C	T	1: 153,249,060	R655H	probably damaging	Het
Lclat1	C	T	17: 73,161,936	S37L	probably benign	Het
Lrp1b	A	G	2: 41,123,597		probably null	Het
Map3k20	T	C	2: 72,402,004	S335P	probably benign	Het
Micu3	A	G	8: 40,366,234	D318G	possibly damaging	Het
Mmp16	T	C	4: 18,054,382	I296T	probably benign	Het
Mmp20	A	T	9: 7,639,334	I168L	probably benign	Het
Mpp3	T	C	11: 102,025,383	K48E	probably damaging	Het
Muc5ac	A	T	7: 141,805,676	D1291V	probably damaging	Het
Muc5ac	A	T	7: 141,805,753	T1317S	possibly damaging	Het
Myl10	A	T	5: 136,700,864	M119L	probably benign	Het
Nek10	G	A	14: 14,850,932	V326M	probably benign	Het
Olfr1348	G	A	7: 6,501,582	L221F	probably benign	Het
Olfr323	T	A	11: 58,625,164	E107D	unknown	Het
Olfr791	A	T	10: 129,526,682	M152L	probably benign	Het
Pcnx	A	G	12: 81,919,125	T161A		Het
Peg10	T	C	6: 4,754,938	S240P	probably damaging	Het
Pex6	G	A	17: 46,724,017	V822M	probably damaging	Het
Pla2r1	T	A	2: 60,534,762	T155S	probably benign	Het
Pld5	A	T	1: 175,993,850		probably null	Het
Plxna4	A	G	6: 32,496,741	V447A	probably damaging	Het
Pou2af1	T	C	9: 51,232,983	S66P	probably benign	Het
Prl2c2	T	C	13: 12,997,343	D147G	probably damaging	Het
Prune1	A	G	3: 95,255,285	L359P	probably damaging	Het
Rab4b	A	T	7: 27,176,217	V13E	probably damaging	Het
Rbbp6	T	G	7: 122,976,008	V80G	possibly damaging	Het
Reep5	C	T	18: 34,349,800	G119S	possibly damaging	Het
Rem1	G	C	2: 152,634,665	R281P	probably damaging	Het
Rnf215	C	T	11: 4,139,989	R309C	probably damaging	Het
Scn4a	C	A	11: 106,324,632	V1173F	probably damaging	Het
Serpine3	A	T	14: 62,673,015	I186F	possibly damaging	Het
Slc7a1	A	G	5: 148,352,236	V67A	probably damaging	Het
Smco2	A	T	6: 146,860,009	E142V	possibly damaging	Het
Spata25	G	A	2: 164,827,969	P41S	probably benign	Het
Specc1l	A	G	10: 75,276,804	D955G	probably damaging	Het
Spns3	C	T	11: 72,539,034		probably null	Het
Sptbn2	C	T	19: 4,744,207	R1480C	probably damaging	Het
Taf1a	T	C	1: 183,408,434		probably null	Het
Tas2r107	G	T	6: 131,659,600	T162K	possibly damaging	Het
Tcea1	T	C	1: 4,889,551	S139P	probably benign	Het
Tecta	C	T	9: 42,330,987	V2102I	probably benign	Het
Tmem131	A	T	1: 36,872,548	I106K	probably damaging	Het
Tpbpb	A	G	13: 60,902,111	V68A	probably benign	Het
Ttc27	A	T	17: 74,718,715	N61I	probably benign	Het
Ttn	T	C	2: 76,749,677	N23624S	probably damaging	Het
Usp2	T	C	9: 44,067,222		probably null	Het
Vmn1r10	A	G	6: 57,114,041	H206R	probably benign	Het
Vmn1r234	T	C	17: 21,229,217	I131T	probably damaging	Het
Vwf	G	T	6: 125,682,734	R2632L		Het
Wdr36	T	C	18: 32,850,525	L443P	probably benign	Het
Zcchc6	T	C	13: 59,800,090	K806E	probably benign	Het
Zfp143	T	C	7: 110,088,818	V489A	probably benign	Het
Zfp383	G	A	7: 29,915,271	R317Q	probably damaging	Het
Zswim8	A	G	14: 20,716,300	T839A	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
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
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'- AGTGTGGCTGTGCTATTCCC -3'
(R):5'- CATCCTGTAAGGTAGACAACTCC -3'

Sequencing Primer
(F):5'- TGTGCTATTCCCACGGGACAAC -3'
(R):5'- GTAAGGTAGACAACTCCCCTTCGTG -3'

Posted On

2019-10-24