Mutagenetix > Incidental Mutations

Incidental Mutation 'R5875:Myo5b'

455502

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

044082-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R5875 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

74440936-74771493 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 74707902 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112728 (fasta)

Gene Model

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

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: 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

noncoding transcript
Transcript: ENSMUST00000140904

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	A	G	2: 127,186,817	V154A	possibly damaging	Het
2900055J20Rik	T	A	18: 40,257,394		probably benign	Het
4931417E11Rik	T	C	6: 73,469,045	I174V	possibly damaging	Het
4933417A18Rik	T	G	13: 34,932,446	C59W	probably damaging	Het
Abcc1	A	G	16: 14,467,037	E1250G	possibly damaging	Het
Ajap1	A	C	4: 153,432,341	I181R	probably damaging	Het
Akap9	A	G	5: 4,077,285	Y3711C	probably benign	Het
Arl1	T	C	10: 88,741,979	S137P	probably benign	Het
Atp6v0a2	G	A	5: 124,716,327	V583I	probably benign	Het
Cdca7	T	A	2: 72,483,557	M230K	probably benign	Het
Chd9	A	T	8: 91,051,836	D2841V	probably damaging	Het
Chp1	T	A	2: 119,571,815	F90Y	probably damaging	Het
Ckap5	A	G	2: 91,560,861	T345A	probably benign	Het
Clca4b	A	C	3: 144,922,889	S352R	probably benign	Het
Cmya5	A	G	13: 93,095,184	V1132A	probably benign	Het
Crb2	T	A	2: 37,787,254		probably null	Het
Crhbp	A	G	13: 95,443,796	F99L	probably benign	Het
Dnmt3l	A	T	10: 78,053,938	M210L	probably benign	Het
Dyrk2	T	A	10: 118,860,697	R219W	probably damaging	Het
Exosc1	A	G	19: 41,928,103	I78T	probably damaging	Het
Exosc9	T	C	3: 36,561,193		probably null	Het
Frmd5	A	G	2: 121,558,478		probably benign	Het
Gata2	T	C	6: 88,202,491	L315P	probably damaging	Het
Gm17067	G	A	7: 42,708,046	T344I	probably benign	Het
Gm4884	A	T	7: 41,042,936	T110S	possibly damaging	Het
Hapln3	T	C	7: 79,121,973	E56G	probably benign	Het
Helq	A	C	5: 100,796,470	I258S	probably damaging	Het
Hoxd10	T	C	2: 74,692,082	Y35H	possibly damaging	Het
Inpp5b	T	C	4: 124,780,406	V302A	possibly damaging	Het
Inpp5d	T	A	1: 87,717,974	I1027N	possibly damaging	Het
Ints2	T	C	11: 86,238,312	S482G	probably benign	Het
Itih1	C	T	14: 30,929,530	V902I	probably benign	Het
Kif27	T	C	13: 58,311,104	N971S	probably benign	Het
Klra17	T	C	6: 129,874,828	D27G	probably benign	Het
Leo1	G	C	9: 75,450,560	R412S	probably damaging	Het
Lonrf2	T	C	1: 38,807,047	N348S	probably benign	Het
Lpp	G	A	16: 24,608,309	G62E	probably benign	Het
Lyn	G	A	4: 3,745,631		probably null	Het
Macf1	T	A	4: 123,432,314	N5128I	possibly damaging	Het
Mapk7	T	A	11: 61,493,698	I61L	probably benign	Het
Mindy1	T	C	3: 95,294,814	V334A	probably damaging	Het
Muc20	G	A	16: 32,793,819	T396I	possibly damaging	Het
Noc4l	A	C	5: 110,651,310		probably null	Het
Oas1c	A	G	5: 120,805,562	Y171H	probably damaging	Het
Pclo	A	T	5: 14,680,600		probably benign	Het
Pmpcb	G	A	5: 21,742,946	E216K	probably benign	Het
Pskh1	G	A	8: 105,913,099	R137Q	possibly damaging	Het
Ptprb	T	G	10: 116,348,166	W1628G	probably benign	Het
Ranbp3	T	A	17: 56,707,955		probably null	Het
Rnf165	T	C	18: 77,563,181		probably benign	Het
Sart1	T	C	19: 5,383,795	D338G	probably damaging	Het
Scn8a	T	A	15: 100,972,822	Y251*	probably null	Het
Sdk2	G	T	11: 113,830,059	T1348K	probably benign	Het
Sec16a	A	G	2: 26,433,367	Y1272H	probably damaging	Het
Slc26a1	A	T	5: 108,672,037	L432Q	probably damaging	Het
Susd1	A	T	4: 59,412,203	F117I	possibly damaging	Het
Taf5	A	T	19: 47,076,110	Y465F	probably damaging	Het
Tcstv1	T	A	13: 119,894,094	M1L	probably benign	Het
Tectb	A	G	19: 55,189,626	D193G	possibly damaging	Het
Tirap	G	A	9: 35,189,169	P73L	probably damaging	Het
Tm6sf2	A	G	8: 70,075,389	D86G	possibly damaging	Het
Tmem161b	A	T	13: 84,294,858	H481L	probably damaging	Het
Tnrc6c	G	A	11: 117,759,708	V1763I	probably damaging	Het
Ubxn1	T	C	19: 8,872,220	S75P	probably benign	Het
Uhrf2	A	G	19: 30,089,302	K709E	probably damaging	Het
Vmn2r101	T	A	17: 19,588,830	Y74N	probably damaging	Het
Xirp2	A	G	2: 67,505,080	E81G	probably benign	Het
Zbtb45	A	G	7: 13,008,310	V7A	possibly damaging	Het
Zfp668	C	A	7: 127,866,302	R570L	possibly damaging	Het
Zmiz1	T	A	14: 25,635,966	M125K	possibly damaging	Het
Zmiz2	T	C	11: 6,405,072	L913P	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
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
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'- CCAAGACTGCCTGTACTAGC -3'
(R):5'- GGTGCATGCATACCTTTCTCAG -3'

Sequencing Primer
(F):5'- GCCTGTACTAGCATGTAATTATTCTG -3'
(R):5'- GCCATTCTCCTTGTTGTGAGC -3'

Posted On

2017-02-10