Mutagenetix > Incidental Mutation

Incidental Mutation 'R7670:Myo5b'

592135

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

045742-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.734) question?

Stock #

R7670 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74575435-74905769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74834517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 859 (V859A)

Ref Sequence

ENSEMBL: ENSMUSP00000073790 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000074157
AA Change: V859A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: V859A

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
AA Change: V859A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: V859A

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

Meta Mutation Damage Score

0.1041

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	A	8: 44,023,190 (GRCm39)	H100L	probably benign	Het
Adgrf2	T	C	17: 43,022,263 (GRCm39)	N187S	probably damaging	Het
Adipoq	T	A	16: 22,976,332 (GRCm39)	H244Q	probably damaging	Het
Arhgap40	T	A	2: 158,373,845 (GRCm39)	S209T	probably benign	Het
Arrdc3	C	T	13: 81,037,212 (GRCm39)	L123F	probably damaging	Het
Aspscr1	A	G	11: 120,579,865 (GRCm39)	N212D	probably benign	Het
Ccr9	A	T	9: 123,608,371 (GRCm39)	S18C	probably damaging	Het
Cdc42bpa	T	A	1: 179,892,646 (GRCm39)	V270D	probably damaging	Het
Clic4	A	G	4: 134,944,516 (GRCm39)	Y220H	probably damaging	Het
Cntln	A	C	4: 84,897,577 (GRCm39)	H388P	possibly damaging	Het
Col12a1	A	G	9: 79,538,925 (GRCm39)	V2457A	probably damaging	Het
Ctsk	A	G	3: 95,408,925 (GRCm39)	N103D	probably benign	Het
Ddx60	T	C	8: 62,428,826 (GRCm39)	S779P	probably damaging	Het
Dnah5	T	A	15: 28,246,378 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,148,462 (GRCm39)	D279E	probably benign	Het
Eif1ad10	T	C	12: 88,216,524 (GRCm39)	N116S	probably benign	Het
Fam117a	A	G	11: 95,269,660 (GRCm39)	N308S	probably benign	Het
Fasn	A	G	11: 120,704,245 (GRCm39)	V1419A	probably damaging	Het
Fhad1	A	G	4: 141,678,802 (GRCm39)	S625P	probably benign	Het
Gemin5	A	G	11: 58,038,754 (GRCm39)	V585A	probably benign	Het
Gm5145	C	A	17: 20,790,646 (GRCm39)	P8Q	probably benign	Het
Herc1	C	A	9: 66,323,629 (GRCm39)	T1381K	probably damaging	Het
Herc6	T	C	6: 57,637,107 (GRCm39)	I824T	probably damaging	Het
Klrb1	C	T	6: 128,687,050 (GRCm39)	V161I	probably benign	Het
Krtap31-1	A	G	11: 99,799,258 (GRCm39)	N154D	not run	Het
Lcp1	A	T	14: 75,437,871 (GRCm39)	I94F	probably benign	Het
Lin7a	A	T	10: 107,218,552 (GRCm39)	Q154L	possibly damaging	Het
Lnx1	T	C	5: 74,846,351 (GRCm39)	Y33C	probably damaging	Het
Ncbp1	A	G	4: 46,170,015 (GRCm39)	Q696R	probably damaging	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Nme8	T	C	13: 19,842,999 (GRCm39)	E392G	probably benign	Het
Nufip1	CAAAACAGAAAACAGAAAAC	CAAAACAGAAAACAGAAAACAGAAAAC	14: 76,349,414 (GRCm39)		probably null	Het
Nuggc	A	G	14: 65,850,975 (GRCm39)	I298V	probably damaging	Het
Nup155	A	C	15: 8,183,180 (GRCm39)	K1247Q	probably damaging	Het
Or1a1	A	G	11: 74,087,033 (GRCm39)	K235E	probably damaging	Het
Or5c1	A	T	2: 37,221,771 (GRCm39)	E4V	probably benign	Het
Otud4	T	A	8: 80,382,493 (GRCm39)		probably null	Het
Pacc1	A	G	1: 191,073,065 (GRCm39)	N162S	probably benign	Het
Pcdhb18	T	C	18: 37,624,749 (GRCm39)	V693A	probably damaging	Het
Pcnx3	A	G	19: 5,727,210 (GRCm39)	F1108L	probably benign	Het
Prkca	A	T	11: 107,905,170 (GRCm39)	N189K	probably damaging	Het
Rbm24	A	G	13: 46,582,683 (GRCm39)	I201V	probably benign	Het
Reep6	T	C	10: 80,169,627 (GRCm39)	L105P	probably damaging	Het
Retreg1	T	C	15: 25,941,126 (GRCm39)		probably benign	Het
Rev3l	C	T	10: 39,712,718 (GRCm39)	T2382I	probably benign	Het
Rnf31	A	G	14: 55,831,818 (GRCm39)	N230S	probably benign	Het
Rreb1	T	C	13: 38,115,548 (GRCm39)	L969P	probably benign	Het
Rsph4a	T	A	10: 33,785,029 (GRCm39)	N313K	probably damaging	Het
Serpina3f	T	A	12: 104,183,525 (GRCm39)	L129Q	probably damaging	Het
Slc9a2	T	A	1: 40,758,157 (GRCm39)	V232D	probably damaging	Het
Stmn2	T	C	3: 8,619,925 (GRCm39)	L121P	probably damaging	Het
Svep1	C	T	4: 58,097,424 (GRCm39)	G1373D	probably damaging	Het
Tex55	C	T	16: 38,648,453 (GRCm39)	D219N	possibly damaging	Het
Tns1	C	A	1: 73,991,636 (GRCm39)	R1014L	possibly damaging	Het
Top2b	T	C	14: 16,416,620 (GRCm38)	S1127P	possibly damaging	Het
Txndc16	A	T	14: 45,373,324 (GRCm39)	C768*	probably null	Het
Ubl7	A	T	9: 57,837,052 (GRCm39)	E354D	probably benign	Het
Ush2a	T	C	1: 188,516,905 (GRCm39)	L3205P	possibly damaging	Het
Xirp2	A	G	2: 67,340,917 (GRCm39)	T1053A	possibly damaging	Het
Zbtb21	A	G	16: 97,753,077 (GRCm39)	L402P	probably damaging	Het
Zfp27	T	A	7: 29,594,221 (GRCm39)	K581N	possibly damaging	Het
Zfp62	A	T	11: 49,105,903 (GRCm39)		probably benign	Het

Other mutations in Myo5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00798:Myo5b	APN	18	74,787,147 (GRCm39)	splice site	probably benign
IGL01083:Myo5b	APN	18	74,866,974 (GRCm39)	splice site	probably benign
IGL01448:Myo5b	APN	18	74,777,161 (GRCm39)	missense	probably damaging	0.97
IGL01516:Myo5b	APN	18	74,760,266 (GRCm39)	missense	probably damaging	0.99
IGL01525:Myo5b	APN	18	74,873,620 (GRCm39)	missense	probably damaging	1.00
IGL01873:Myo5b	APN	18	74,713,467 (GRCm39)	missense	probably damaging	1.00
IGL01887:Myo5b	APN	18	74,848,007 (GRCm39)	missense	probably benign	0.41
IGL01953:Myo5b	APN	18	74,702,838 (GRCm39)	missense	possibly damaging	0.62
IGL01976:Myo5b	APN	18	74,831,348 (GRCm39)	missense	probably damaging	1.00
IGL02017:Myo5b	APN	18	74,850,070 (GRCm39)	missense	probably damaging	1.00
IGL02331:Myo5b	APN	18	74,771,111 (GRCm39)	critical splice acceptor site	probably null
IGL02624:Myo5b	APN	18	74,848,010 (GRCm39)	missense	probably damaging	0.98
IGL02707:Myo5b	APN	18	74,828,438 (GRCm39)	splice site	probably benign
IGL02806:Myo5b	APN	18	74,750,151 (GRCm39)	critical splice donor site	probably null
IGL03009:Myo5b	APN	18	74,894,039 (GRCm39)	missense	possibly damaging	0.54
IGL03061:Myo5b	APN	18	74,713,615 (GRCm39)	splice site	probably benign
IGL03061:Myo5b	APN	18	74,767,630 (GRCm39)	missense	probably benign	0.02
unrat	UTSW	18	74,786,432 (GRCm39)	missense	possibly damaging	0.93
BB007:Myo5b	UTSW	18	74,864,825 (GRCm39)	missense	probably benign
BB017:Myo5b	UTSW	18	74,864,825 (GRCm39)	missense	probably benign
R0085:Myo5b	UTSW	18	74,834,751 (GRCm39)	missense	probably benign	0.21
R0114:Myo5b	UTSW	18	74,875,242 (GRCm39)	missense	probably benign	0.03
R0226:Myo5b	UTSW	18	74,875,251 (GRCm39)	missense	probably benign
R0242:Myo5b	UTSW	18	74,794,787 (GRCm39)	missense	possibly damaging	0.95
R0242:Myo5b	UTSW	18	74,794,787 (GRCm39)	missense	possibly damaging	0.95
R0471:Myo5b	UTSW	18	74,862,025 (GRCm39)	splice site	probably benign
R0494:Myo5b	UTSW	18	74,787,038 (GRCm39)	missense	probably damaging	1.00
R0920:Myo5b	UTSW	18	74,758,712 (GRCm39)	missense	probably benign	0.09
R1144:Myo5b	UTSW	18	74,758,658 (GRCm39)	missense	probably damaging	1.00
R1177:Myo5b	UTSW	18	74,777,143 (GRCm39)	missense	probably damaging	1.00
R1387:Myo5b	UTSW	18	74,777,272 (GRCm39)	splice site	probably benign
R1468:Myo5b	UTSW	18	74,873,574 (GRCm39)	missense	probably damaging	0.99
R1468:Myo5b	UTSW	18	74,873,574 (GRCm39)	missense	probably damaging	0.99
R1555:Myo5b	UTSW	18	74,702,853 (GRCm39)	missense	probably damaging	1.00
R1587:Myo5b	UTSW	18	74,867,061 (GRCm39)	missense	probably benign
R1600:Myo5b	UTSW	18	74,846,611 (GRCm39)	unclassified	probably benign
R1639:Myo5b	UTSW	18	74,840,987 (GRCm39)	missense	probably benign	0.19
R1779:Myo5b	UTSW	18	74,875,218 (GRCm39)	missense	probably benign	0.06
R1806:Myo5b	UTSW	18	74,710,680 (GRCm39)	missense	possibly damaging	0.91
R1929:Myo5b	UTSW	18	74,866,996 (GRCm39)	missense	probably damaging	0.99
R2046:Myo5b	UTSW	18	74,710,526 (GRCm39)	missense	probably benign	0.28
R2093:Myo5b	UTSW	18	74,892,263 (GRCm39)	missense	probably damaging	0.98
R2270:Myo5b	UTSW	18	74,866,996 (GRCm39)	missense	probably damaging	0.99
R2272:Myo5b	UTSW	18	74,866,996 (GRCm39)	missense	probably damaging	0.99
R2298:Myo5b	UTSW	18	74,758,676 (GRCm39)	missense	probably damaging	1.00
R2433:Myo5b	UTSW	18	74,892,158 (GRCm39)	missense	probably damaging	1.00
R2888:Myo5b	UTSW	18	74,895,689 (GRCm39)	missense	probably damaging	1.00
R3824:Myo5b	UTSW	18	74,794,726 (GRCm39)	missense	probably benign	0.41
R3937:Myo5b	UTSW	18	74,849,108 (GRCm39)	missense	probably damaging	0.98
R3938:Myo5b	UTSW	18	74,849,108 (GRCm39)	missense	probably damaging	0.98
R3947:Myo5b	UTSW	18	74,828,474 (GRCm39)	missense	probably damaging	1.00
R3971:Myo5b	UTSW	18	74,873,598 (GRCm39)	missense	probably damaging	1.00
R3972:Myo5b	UTSW	18	74,873,598 (GRCm39)	missense	probably damaging	1.00
R3974:Myo5b	UTSW	18	74,767,552 (GRCm39)	missense	probably damaging	1.00
R4027:Myo5b	UTSW	18	74,892,311 (GRCm39)	missense	possibly damaging	0.67
R4080:Myo5b	UTSW	18	74,873,559 (GRCm39)	missense	probably benign
R4285:Myo5b	UTSW	18	74,847,920 (GRCm39)	missense	probably benign
R4308:Myo5b	UTSW	18	74,864,811 (GRCm39)	missense	possibly damaging	0.89
R4411:Myo5b	UTSW	18	74,831,345 (GRCm39)	missense	possibly damaging	0.89
R4415:Myo5b	UTSW	18	74,713,479 (GRCm39)	missense	probably damaging	1.00
R4516:Myo5b	UTSW	18	74,758,745 (GRCm39)	missense	probably damaging	1.00
R4690:Myo5b	UTSW	18	74,855,533 (GRCm39)	missense	probably damaging	0.97
R4781:Myo5b	UTSW	18	74,877,752 (GRCm39)	missense	possibly damaging	0.80
R4786:Myo5b	UTSW	18	74,828,451 (GRCm39)	missense	probably benign	0.01
R4796:Myo5b	UTSW	18	74,877,701 (GRCm39)	missense	possibly damaging	0.68
R4924:Myo5b	UTSW	18	74,828,455 (GRCm39)	missense	probably benign	0.19
R4972:Myo5b	UTSW	18	74,760,264 (GRCm39)	missense	probably damaging	0.98
R5004:Myo5b	UTSW	18	74,877,844 (GRCm39)	critical splice donor site	probably null
R5024:Myo5b	UTSW	18	74,849,105 (GRCm39)	missense	possibly damaging	0.90
R5043:Myo5b	UTSW	18	74,771,224 (GRCm39)	critical splice donor site	probably null
R5187:Myo5b	UTSW	18	74,834,745 (GRCm39)	missense	possibly damaging	0.68
R5232:Myo5b	UTSW	18	74,848,003 (GRCm39)	missense	probably damaging	0.99
R5254:Myo5b	UTSW	18	74,833,677 (GRCm39)	missense	possibly damaging	0.65
R5255:Myo5b	UTSW	18	74,795,741 (GRCm39)	missense	possibly damaging	0.94
R5715:Myo5b	UTSW	18	74,875,246 (GRCm39)	missense	possibly damaging	0.88
R5733:Myo5b	UTSW	18	74,787,128 (GRCm39)	missense	possibly damaging	0.93
R5797:Myo5b	UTSW	18	74,834,592 (GRCm39)	missense	probably benign
R5875:Myo5b	UTSW	18	74,840,973 (GRCm39)	splice site	probably null
R6088:Myo5b	UTSW	18	74,853,969 (GRCm39)	missense	possibly damaging	0.89
R6104:Myo5b	UTSW	18	74,833,750 (GRCm39)	missense	probably benign	0.19
R6237:Myo5b	UTSW	18	74,875,249 (GRCm39)	missense	probably damaging	1.00
R6265:Myo5b	UTSW	18	74,710,511 (GRCm39)	splice site	probably null
R6267:Myo5b	UTSW	18	74,750,062 (GRCm39)	missense	probably damaging	1.00
R6328:Myo5b	UTSW	18	74,750,064 (GRCm39)	missense	probably damaging	1.00
R6330:Myo5b	UTSW	18	74,750,064 (GRCm39)	missense	probably damaging	1.00
R6331:Myo5b	UTSW	18	74,750,064 (GRCm39)	missense	probably damaging	1.00
R6347:Myo5b	UTSW	18	74,903,456 (GRCm39)	missense	probably benign	0.11
R6479:Myo5b	UTSW	18	74,750,086 (GRCm39)	missense	probably damaging	1.00
R6748:Myo5b	UTSW	18	74,834,574 (GRCm39)	missense	possibly damaging	0.80
R6749:Myo5b	UTSW	18	74,834,574 (GRCm39)	missense	possibly damaging	0.80
R6750:Myo5b	UTSW	18	74,750,106 (GRCm39)	missense	possibly damaging	0.74
R6833:Myo5b	UTSW	18	74,903,396 (GRCm39)	missense	probably benign
R6876:Myo5b	UTSW	18	74,841,026 (GRCm39)	missense	probably benign
R6880:Myo5b	UTSW	18	74,855,501 (GRCm39)	missense	probably benign	0.02
R6902:Myo5b	UTSW	18	74,809,756 (GRCm39)	missense	possibly damaging	0.95
R6985:Myo5b	UTSW	18	74,786,432 (GRCm39)	missense	possibly damaging	0.93
R7039:Myo5b	UTSW	18	74,834,599 (GRCm39)	missense	probably benign	0.01
R7162:Myo5b	UTSW	18	74,828,498 (GRCm39)	missense	probably benign	0.02
R7345:Myo5b	UTSW	18	74,841,095 (GRCm39)	missense	possibly damaging	0.82
R7530:Myo5b	UTSW	18	74,864,802 (GRCm39)	missense	probably benign	0.00
R7564:Myo5b	UTSW	18	74,767,582 (GRCm39)	missense	possibly damaging	0.84
R7629:Myo5b	UTSW	18	74,760,325 (GRCm39)	critical splice donor site	probably null
R7635:Myo5b	UTSW	18	74,713,467 (GRCm39)	missense	probably damaging	1.00
R7754:Myo5b	UTSW	18	74,767,630 (GRCm39)	missense	probably benign	0.02
R7930:Myo5b	UTSW	18	74,864,825 (GRCm39)	missense	probably benign
R8013:Myo5b	UTSW	18	74,893,970 (GRCm39)	nonsense	probably null
R8271:Myo5b	UTSW	18	74,760,261 (GRCm39)	missense	probably damaging	1.00
R8312:Myo5b	UTSW	18	74,867,033 (GRCm39)	missense	probably damaging	1.00
R8383:Myo5b	UTSW	18	74,777,049 (GRCm39)	missense	probably benign	0.05
R8384:Myo5b	UTSW	18	74,875,273 (GRCm39)	missense	probably damaging	1.00
R8474:Myo5b	UTSW	18	74,903,411 (GRCm39)	missense	probably damaging	1.00
R8825:Myo5b	UTSW	18	74,892,169 (GRCm39)	missense	possibly damaging	0.79
R8846:Myo5b	UTSW	18	74,841,043 (GRCm39)	missense	probably benign	0.04
R9236:Myo5b	UTSW	18	74,853,934 (GRCm39)	missense	probably benign
R9283:Myo5b	UTSW	18	74,777,149 (GRCm39)	missense	probably benign	0.16
R9370:Myo5b	UTSW	18	74,760,246 (GRCm39)	missense	possibly damaging	0.54
R9506:Myo5b	UTSW	18	74,877,831 (GRCm39)	missense	possibly damaging	0.82
R9523:Myo5b	UTSW	18	74,861,968 (GRCm39)	missense	possibly damaging	0.89
R9622:Myo5b	UTSW	18	74,848,017 (GRCm39)	missense	probably damaging	0.99
R9676:Myo5b	UTSW	18	74,892,231 (GRCm39)	missense	probably benign	0.22
R9725:Myo5b	UTSW	18	74,856,841 (GRCm39)	missense	probably benign
RF009:Myo5b	UTSW	18	74,777,070 (GRCm39)	missense	probably damaging	1.00
Z1088:Myo5b	UTSW	18	74,877,820 (GRCm39)	missense	probably benign	0.35
Z1177:Myo5b	UTSW	18	74,750,088 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AACAAGAGTTTGTCAGCCACTC -3'
(R):5'- TTGAGGCGTTTCAGATGCTC -3'

Sequencing Primer
(F):5'- TCCTGTGTACACAAGGTCTACAG -3'
(R):5'- CGTTTCAGATGCTCTGCCGAG -3'

Posted On

2019-11-12