Mutagenetix > Incidental Mutation

Incidental Mutation 'R0471:Myo5b'

46793

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

038671-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R0471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74440936-74771493 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 74728954 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112728 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
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: ENSMUST00000154986

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	G	A	4: 35,193,257	T232I	probably benign	Het
Acp6	T	C	3: 97,168,575		probably null	Het
Adam33	C	A	2: 131,054,479	G437C	probably damaging	Het
Aldh1a1	T	A	19: 20,602,013	M1K	probably null	Het
Amotl2	C	A	9: 102,720,519	P126Q	probably damaging	Het
Ap1g1	T	A	8: 109,853,643	M576K	possibly damaging	Het
Apob	C	A	12: 7,990,406	A581E	probably damaging	Het
Asb7	A	T	7: 66,679,159	D44E	probably damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Ccdc65	A	T	15: 98,717,467	H118L	probably benign	Het
Cdc25b	A	G	2: 131,197,284	E523G	probably damaging	Het
Cdk11b	A	G	4: 155,647,542		probably benign	Het
Clec1b	A	G	6: 129,401,607		probably benign	Het
Cntrl	A	G	2: 35,127,380	T400A	probably benign	Het
Cpne4	T	G	9: 105,022,282		probably null	Het
Cyp2j6	T	A	4: 96,531,748	R249*	probably null	Het
Dock2	T	C	11: 34,688,553	I678V	probably benign	Het
Dqx1	C	T	6: 83,059,426		probably benign	Het
Dsp	A	T	13: 38,193,350	K1704*	probably null	Het
Eif2b2	T	C	12: 85,220,183	F121S	probably benign	Het
Ephx4	T	C	5: 107,413,513	V69A	possibly damaging	Het
Epn2	T	C	11: 61,535,308	Q281R	probably damaging	Het
Fgf3	A	C	7: 144,842,810	D187A	probably damaging	Het
Galnt18	C	A	7: 111,779,299		probably benign	Het
Gm4871	C	T	5: 145,031,592		probably benign	Het
Ick	G	T	9: 78,155,517		probably null	Het
Inpp4b	T	C	8: 82,041,899	I679T	possibly damaging	Het
Itpkb	A	G	1: 180,418,255	E779G	probably damaging	Het
Itsn1	G	A	16: 91,899,589	V27M	probably damaging	Het
Lrp2	C	A	2: 69,525,234	R422L	probably damaging	Het
Mmp25	G	A	17: 23,639,884	A231V	possibly damaging	Het
Mprip	T	C	11: 59,759,735	S1422P	probably damaging	Het
Mro	A	T	18: 73,876,789	Q176L	probably benign	Het
Mrpl12	A	G	11: 120,488,403	E192G	probably damaging	Het
Ncam2	G	T	16: 81,200,884		probably benign	Het
Nip7	T	C	8: 107,057,317	L63P	probably damaging	Het
Nsd3	T	C	8: 25,648,434		probably benign	Het
Nup98	A	T	7: 102,138,797	V1022D	probably benign	Het
Olfr1173	A	G	2: 88,274,215	V278A	possibly damaging	Het
Olfr1391	T	A	11: 49,327,917	C169S	probably damaging	Het
Olfr190	A	G	16: 59,074,270	I270T	probably benign	Het
Olfr846	A	T	9: 19,360,881	L158*	probably null	Het
P4ha2	T	C	11: 54,117,608	Y214H	possibly damaging	Het
Pacrg	A	T	17: 10,576,478	F184L	possibly damaging	Het
Parpbp	T	A	10: 88,093,707	R426S	probably damaging	Het
Pcdhb5	T	A	18: 37,321,306	Y246*	probably null	Het
Pik3cg	T	A	12: 32,194,771	T895S	probably damaging	Het
Prkch	T	C	12: 73,691,652	Y178H	probably benign	Het
Rusc2	G	T	4: 43,425,486	R1197L	probably damaging	Het
Svep1	T	C	4: 58,054,700	E3296G	possibly damaging	Het
Svs3a	A	G	2: 164,289,881	K123R	probably benign	Het
Sycp2l	A	G	13: 41,150,530		probably null	Het
Syne3	T	C	12: 104,943,426	H717R	probably benign	Het
Tiprl	A	G	1: 165,222,523		probably null	Het
Trim24	T	G	6: 37,915,195	V151G	possibly damaging	Het
Trim33	T	C	3: 103,326,901	V56A	possibly damaging	Het
Trim67	C	A	8: 124,794,658	T253K	probably benign	Het
Trip12	T	C	1: 84,726,207	E698G	probably damaging	Het
Tspan14	T	C	14: 40,915,396	D145G	probably damaging	Het
Ushbp1	G	A	8: 71,394,377	Q204*	probably null	Het
Vmn1r71	G	C	7: 10,748,092	S223C	possibly damaging	Het
Vmn2r75	G	T	7: 86,165,513	N257K	probably benign	Het
Washc4	T	C	10: 83,558,734		probably benign	Het
Zc3h7b	G	A	15: 81,781,968	D560N	probably damaging	Het
Zscan21	T	C	5: 138,125,140	V27A	probably benign	Het
Zzef1	A	C	11: 72,923,111	E2842A	probably damaging	Het

Other mutations in Myo5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00798:Myo5b	APN	18	74,654,076 (GRCm38)	splice site	probably benign
IGL01083:Myo5b	APN	18	74,733,903 (GRCm38)	splice site	probably benign
IGL01448:Myo5b	APN	18	74,644,090 (GRCm38)	missense	probably damaging	0.97
IGL01516:Myo5b	APN	18	74,627,195 (GRCm38)	missense	probably damaging	0.99
IGL01525:Myo5b	APN	18	74,740,549 (GRCm38)	missense	probably damaging	1.00
IGL01873:Myo5b	APN	18	74,580,396 (GRCm38)	missense	probably damaging	1.00
IGL01887:Myo5b	APN	18	74,714,936 (GRCm38)	missense	probably benign	0.41
IGL01953:Myo5b	APN	18	74,569,767 (GRCm38)	missense	possibly damaging	0.62
IGL01976:Myo5b	APN	18	74,698,277 (GRCm38)	missense	probably damaging	1.00
IGL02017:Myo5b	APN	18	74,716,999 (GRCm38)	missense	probably damaging	1.00
IGL02331:Myo5b	APN	18	74,638,040 (GRCm38)	critical splice acceptor site	probably null
IGL02624:Myo5b	APN	18	74,714,939 (GRCm38)	missense	probably damaging	0.98
IGL02707:Myo5b	APN	18	74,695,367 (GRCm38)	splice site	probably benign
IGL02806:Myo5b	APN	18	74,617,080 (GRCm38)	critical splice donor site	probably null
IGL03009:Myo5b	APN	18	74,760,968 (GRCm38)	missense	possibly damaging	0.54
IGL03061:Myo5b	APN	18	74,580,544 (GRCm38)	splice site	probably benign
IGL03061:Myo5b	APN	18	74,634,559 (GRCm38)	missense	probably benign	0.02
unrat	UTSW	18	74,653,361 (GRCm38)	missense	possibly damaging	0.93
BB007:Myo5b	UTSW	18	74,731,754 (GRCm38)	missense	probably benign
BB017:Myo5b	UTSW	18	74,731,754 (GRCm38)	missense	probably benign
R0085:Myo5b	UTSW	18	74,701,680 (GRCm38)	missense	probably benign	0.21
R0114:Myo5b	UTSW	18	74,742,171 (GRCm38)	missense	probably benign	0.03
R0226:Myo5b	UTSW	18	74,742,180 (GRCm38)	missense	probably benign
R0242:Myo5b	UTSW	18	74,661,716 (GRCm38)	missense	possibly damaging	0.95
R0242:Myo5b	UTSW	18	74,661,716 (GRCm38)	missense	possibly damaging	0.95
R0494:Myo5b	UTSW	18	74,653,967 (GRCm38)	missense	probably damaging	1.00
R0920:Myo5b	UTSW	18	74,625,641 (GRCm38)	missense	probably benign	0.09
R1144:Myo5b	UTSW	18	74,625,587 (GRCm38)	missense	probably damaging	1.00
R1177:Myo5b	UTSW	18	74,644,072 (GRCm38)	missense	probably damaging	1.00
R1387:Myo5b	UTSW	18	74,644,201 (GRCm38)	splice site	probably benign
R1468:Myo5b	UTSW	18	74,740,503 (GRCm38)	missense	probably damaging	0.99
R1468:Myo5b	UTSW	18	74,740,503 (GRCm38)	missense	probably damaging	0.99
R1555:Myo5b	UTSW	18	74,569,782 (GRCm38)	missense	probably damaging	1.00
R1587:Myo5b	UTSW	18	74,733,990 (GRCm38)	missense	probably benign
R1600:Myo5b	UTSW	18	74,713,540 (GRCm38)	unclassified	probably benign
R1639:Myo5b	UTSW	18	74,707,916 (GRCm38)	missense	probably benign	0.19
R1779:Myo5b	UTSW	18	74,742,147 (GRCm38)	missense	probably benign	0.06
R1806:Myo5b	UTSW	18	74,577,609 (GRCm38)	missense	possibly damaging	0.91
R1929:Myo5b	UTSW	18	74,733,925 (GRCm38)	missense	probably damaging	0.99
R2046:Myo5b	UTSW	18	74,577,455 (GRCm38)	missense	probably benign	0.28
R2093:Myo5b	UTSW	18	74,759,192 (GRCm38)	missense	probably damaging	0.98
R2270:Myo5b	UTSW	18	74,733,925 (GRCm38)	missense	probably damaging	0.99
R2272:Myo5b	UTSW	18	74,733,925 (GRCm38)	missense	probably damaging	0.99
R2298:Myo5b	UTSW	18	74,625,605 (GRCm38)	missense	probably damaging	1.00
R2433:Myo5b	UTSW	18	74,759,087 (GRCm38)	missense	probably damaging	1.00
R2888:Myo5b	UTSW	18	74,762,618 (GRCm38)	missense	probably damaging	1.00
R3824:Myo5b	UTSW	18	74,661,655 (GRCm38)	missense	probably benign	0.41
R3937:Myo5b	UTSW	18	74,716,037 (GRCm38)	missense	probably damaging	0.98
R3938:Myo5b	UTSW	18	74,716,037 (GRCm38)	missense	probably damaging	0.98
R3947:Myo5b	UTSW	18	74,695,403 (GRCm38)	missense	probably damaging	1.00
R3971:Myo5b	UTSW	18	74,740,527 (GRCm38)	missense	probably damaging	1.00
R3972:Myo5b	UTSW	18	74,740,527 (GRCm38)	missense	probably damaging	1.00
R3974:Myo5b	UTSW	18	74,634,481 (GRCm38)	missense	probably damaging	1.00
R4027:Myo5b	UTSW	18	74,759,240 (GRCm38)	missense	possibly damaging	0.67
R4080:Myo5b	UTSW	18	74,740,488 (GRCm38)	missense	probably benign
R4285:Myo5b	UTSW	18	74,714,849 (GRCm38)	missense	probably benign
R4308:Myo5b	UTSW	18	74,731,740 (GRCm38)	missense	possibly damaging	0.89
R4411:Myo5b	UTSW	18	74,698,274 (GRCm38)	missense	possibly damaging	0.89
R4415:Myo5b	UTSW	18	74,580,408 (GRCm38)	missense	probably damaging	1.00
R4516:Myo5b	UTSW	18	74,625,674 (GRCm38)	missense	probably damaging	1.00
R4690:Myo5b	UTSW	18	74,722,462 (GRCm38)	missense	probably damaging	0.97
R4781:Myo5b	UTSW	18	74,744,681 (GRCm38)	missense	possibly damaging	0.80
R4786:Myo5b	UTSW	18	74,695,380 (GRCm38)	missense	probably benign	0.01
R4796:Myo5b	UTSW	18	74,744,630 (GRCm38)	missense	possibly damaging	0.68
R4924:Myo5b	UTSW	18	74,695,384 (GRCm38)	missense	probably benign	0.19
R4972:Myo5b	UTSW	18	74,627,193 (GRCm38)	missense	probably damaging	0.98
R5004:Myo5b	UTSW	18	74,744,773 (GRCm38)	critical splice donor site	probably null
R5024:Myo5b	UTSW	18	74,716,034 (GRCm38)	missense	possibly damaging	0.90
R5043:Myo5b	UTSW	18	74,638,153 (GRCm38)	critical splice donor site	probably null
R5187:Myo5b	UTSW	18	74,701,674 (GRCm38)	missense	possibly damaging	0.68
R5232:Myo5b	UTSW	18	74,714,932 (GRCm38)	missense	probably damaging	0.99
R5254:Myo5b	UTSW	18	74,700,606 (GRCm38)	missense	possibly damaging	0.65
R5255:Myo5b	UTSW	18	74,662,670 (GRCm38)	missense	possibly damaging	0.94
R5715:Myo5b	UTSW	18	74,742,175 (GRCm38)	missense	possibly damaging	0.88
R5733:Myo5b	UTSW	18	74,654,057 (GRCm38)	missense	possibly damaging	0.93
R5797:Myo5b	UTSW	18	74,701,521 (GRCm38)	missense	probably benign
R5875:Myo5b	UTSW	18	74,707,902 (GRCm38)	splice site	probably null
R6088:Myo5b	UTSW	18	74,720,898 (GRCm38)	missense	possibly damaging	0.89
R6104:Myo5b	UTSW	18	74,700,679 (GRCm38)	missense	probably benign	0.19
R6237:Myo5b	UTSW	18	74,742,178 (GRCm38)	missense	probably damaging	1.00
R6265:Myo5b	UTSW	18	74,577,440 (GRCm38)	splice site	probably null
R6267:Myo5b	UTSW	18	74,616,991 (GRCm38)	missense	probably damaging	1.00
R6328:Myo5b	UTSW	18	74,616,993 (GRCm38)	missense	probably damaging	1.00
R6330:Myo5b	UTSW	18	74,616,993 (GRCm38)	missense	probably damaging	1.00
R6331:Myo5b	UTSW	18	74,616,993 (GRCm38)	missense	probably damaging	1.00
R6347:Myo5b	UTSW	18	74,770,385 (GRCm38)	missense	probably benign	0.11
R6479:Myo5b	UTSW	18	74,617,015 (GRCm38)	missense	probably damaging	1.00
R6748:Myo5b	UTSW	18	74,701,503 (GRCm38)	missense	possibly damaging	0.80
R6749:Myo5b	UTSW	18	74,701,503 (GRCm38)	missense	possibly damaging	0.80
R6750:Myo5b	UTSW	18	74,617,035 (GRCm38)	missense	possibly damaging	0.74
R6833:Myo5b	UTSW	18	74,770,325 (GRCm38)	missense	probably benign
R6876:Myo5b	UTSW	18	74,707,955 (GRCm38)	missense	probably benign
R6880:Myo5b	UTSW	18	74,722,430 (GRCm38)	missense	probably benign	0.02
R6902:Myo5b	UTSW	18	74,676,685 (GRCm38)	missense	possibly damaging	0.95
R6985:Myo5b	UTSW	18	74,653,361 (GRCm38)	missense	possibly damaging	0.93
R7039:Myo5b	UTSW	18	74,701,528 (GRCm38)	missense	probably benign	0.01
R7162:Myo5b	UTSW	18	74,695,427 (GRCm38)	missense	probably benign	0.02
R7345:Myo5b	UTSW	18	74,708,024 (GRCm38)	missense	possibly damaging	0.82
R7530:Myo5b	UTSW	18	74,731,731 (GRCm38)	missense	probably benign	0.00
R7564:Myo5b	UTSW	18	74,634,511 (GRCm38)	missense	possibly damaging	0.84
R7629:Myo5b	UTSW	18	74,627,254 (GRCm38)	critical splice donor site	probably null
R7635:Myo5b	UTSW	18	74,580,396 (GRCm38)	missense	probably damaging	1.00
R7670:Myo5b	UTSW	18	74,701,446 (GRCm38)	missense	probably benign	0.05
R7754:Myo5b	UTSW	18	74,634,559 (GRCm38)	missense	probably benign	0.02
R7930:Myo5b	UTSW	18	74,731,754 (GRCm38)	missense	probably benign
R8013:Myo5b	UTSW	18	74,760,899 (GRCm38)	nonsense	probably null
R8271:Myo5b	UTSW	18	74,627,190 (GRCm38)	missense	probably damaging	1.00
R8312:Myo5b	UTSW	18	74,733,962 (GRCm38)	missense	probably damaging	1.00
R8383:Myo5b	UTSW	18	74,643,978 (GRCm38)	missense	probably benign	0.05
R8384:Myo5b	UTSW	18	74,742,202 (GRCm38)	missense	probably damaging	1.00
R8474:Myo5b	UTSW	18	74,770,340 (GRCm38)	missense	probably damaging	1.00
R8825:Myo5b	UTSW	18	74,759,098 (GRCm38)	missense	possibly damaging	0.79
R8846:Myo5b	UTSW	18	74,707,972 (GRCm38)	missense	probably benign	0.04
R9236:Myo5b	UTSW	18	74,720,863 (GRCm38)	missense	probably benign
R9283:Myo5b	UTSW	18	74,644,078 (GRCm38)	missense	probably benign	0.16
R9370:Myo5b	UTSW	18	74,627,175 (GRCm38)	missense	possibly damaging	0.54
R9506:Myo5b	UTSW	18	74,744,760 (GRCm38)	missense	possibly damaging	0.82
R9523:Myo5b	UTSW	18	74,728,897 (GRCm38)	missense	possibly damaging	0.89
R9622:Myo5b	UTSW	18	74,714,946 (GRCm38)	missense	probably damaging	0.99
R9676:Myo5b	UTSW	18	74,759,160 (GRCm38)	missense	probably benign	0.22
R9725:Myo5b	UTSW	18	74,723,770 (GRCm38)	missense	probably benign
RF009:Myo5b	UTSW	18	74,643,999 (GRCm38)	missense	probably damaging	1.00
Z1088:Myo5b	UTSW	18	74,744,749 (GRCm38)	missense	probably benign	0.35
Z1177:Myo5b	UTSW	18	74,617,017 (GRCm38)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- ACATGGAACCTCTTTCCCAGGCAC -3'
(R):5'- ACCCCAAATGATGAATGGATGCCTC -3'

Sequencing Primer
(F):5'- CTAGCACCTAAAGCCAGGGAG -3'
(R):5'- CATGAGCAGGCAACACAGAT -3'

Posted On

2013-06-11