Mutagenetix > Incidental Mutation

Incidental Mutation 'R2046:Myo5b'

222047

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

040053-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.769) question?

Stock #

R2046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74575435-74905769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74710526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 47 (I47F)

Ref Sequence

ENSEMBL: ENSMUSP00000112728 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000074157
AA Change: I47F

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: I47F

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 benign
Transcript: ENSMUST00000121875
AA Change: I47F

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: I47F

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: I45F

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123123
Gene: ENSMUSG00000025885
AA Change: I45F

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

Meta Mutation Damage Score

0.1286

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (71/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,553 (GRCm39)	D84V	probably damaging	Het
Abcc5	A	T	16: 20,218,567 (GRCm39)	S272T	possibly damaging	Het
Adgre4	A	G	17: 56,085,847 (GRCm39)	N49D	possibly damaging	Het
Ap2b1	A	T	11: 83,227,212 (GRCm39)	Y328F	probably benign	Het
Arhgef33	G	C	17: 80,680,895 (GRCm39)	E678D	probably benign	Het
Arid2	G	A	15: 96,267,268 (GRCm39)	V583I	probably damaging	Het
Bdkrb1	T	A	12: 105,570,985 (GRCm39)	S184T	probably benign	Het
Bend3	T	C	10: 43,387,842 (GRCm39)	F745S	probably damaging	Het
Card10	A	T	15: 78,671,673 (GRCm39)	V597E	possibly damaging	Het
Casp3	T	A	8: 47,082,761 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,316,629 (GRCm39)	V340A	probably benign	Het
Cdkl3	G	T	11: 51,917,677 (GRCm39)	V325L	probably benign	Het
Clec4n	T	A	6: 123,223,463 (GRCm39)	N153K	probably benign	Het
Crtac1	C	T	19: 42,322,492 (GRCm39)	V83I	probably damaging	Het
Cul9	C	A	17: 46,854,659 (GRCm39)	L14F	probably damaging	Het
Dgka	T	C	10: 128,559,404 (GRCm39)	Y519C	probably damaging	Het
Dhrs7	T	G	12: 72,699,040 (GRCm39)	K314T	possibly damaging	Het
Dnaaf9	T	A	2: 130,652,837 (GRCm39)	I42L	possibly damaging	Het
Dnah10	G	T	5: 124,873,405 (GRCm39)	K2542N	probably benign	Het
Dock5	A	T	14: 68,049,591 (GRCm39)	V731E	probably benign	Het
Dpy19l1	T	A	9: 24,334,455 (GRCm39)	H571L	probably damaging	Het
Dzip1	A	T	14: 119,159,890 (GRCm39)	I106N	probably damaging	Het
Eif2ak4	A	T	2: 118,281,889 (GRCm39)		probably benign	Het
Epha4	T	C	1: 77,483,799 (GRCm39)	Y70C	probably damaging	Het
Eps15	T	C	4: 109,227,793 (GRCm39)	F344S	probably damaging	Het
Erbb4	C	T	1: 68,337,482 (GRCm39)	R612Q	probably benign	Het
Fam83h	T	C	15: 75,874,787 (GRCm39)	H850R	probably benign	Het
Fancg	A	G	4: 43,004,604 (GRCm39)	C484R	probably damaging	Het
Fzd9	A	G	5: 135,278,538 (GRCm39)	I449T	probably damaging	Het
Gm10647	A	G	9: 66,705,519 (GRCm39)		probably benign	Het
Iigp1c	T	A	18: 60,378,571 (GRCm39)	H35Q	probably benign	Het
Itga11	C	T	9: 62,634,979 (GRCm39)	L86F	probably damaging	Het
Lamc2	C	T	1: 153,017,511 (GRCm39)	R492H	probably benign	Het
Marchf6	A	G	15: 31,486,580 (GRCm39)	V325A	probably benign	Het
Nek9	T	A	12: 85,367,481 (GRCm39)		probably benign	Het
Nelfb	T	A	2: 25,096,323 (GRCm39)	N262I	probably damaging	Het
Neurl4	A	G	11: 69,799,523 (GRCm39)	D942G	probably damaging	Het
Nipbl	G	A	15: 8,353,951 (GRCm39)	P1729S	probably benign	Het
Nr4a3	A	G	4: 48,067,807 (GRCm39)	T468A	possibly damaging	Het
Nrm	G	A	17: 36,175,109 (GRCm39)	V146I	probably benign	Het
Or8h9	C	A	2: 86,789,077 (GRCm39)	A242S	possibly damaging	Het
Pitx3	T	C	19: 46,125,618 (GRCm39)	E42G	possibly damaging	Het
Pkd1l2	C	T	8: 117,726,694 (GRCm39)	A2271T	probably damaging	Het
Pofut2	A	G	10: 77,096,428 (GRCm39)	N51S	probably damaging	Het
Ppp1r3a	T	C	6: 14,722,103 (GRCm39)	E273G	probably benign	Het
Psme4	A	G	11: 30,767,723 (GRCm39)		probably benign	Het
Pus7l	T	C	15: 94,438,666 (GRCm39)	I60V	probably benign	Het
Pygo2	T	A	3: 89,340,455 (GRCm39)	N284K	possibly damaging	Het
Ralgapa1	C	T	12: 55,741,945 (GRCm39)	C1368Y	probably damaging	Het
Rbm45	G	A	2: 76,205,742 (GRCm39)	G198E	probably benign	Het
Reln	T	C	5: 22,147,625 (GRCm39)	I2442V	probably benign	Het
Rmi1	T	C	13: 58,555,772 (GRCm39)	V7A	probably benign	Het
Rsf1	T	C	7: 97,310,884 (GRCm39)	L538P	probably benign	Het
Rsph4a	T	G	10: 33,790,539 (GRCm39)		probably benign	Het
Sardh	A	T	2: 27,105,094 (GRCm39)	D676E	possibly damaging	Het
Sh3tc2	A	G	18: 62,123,914 (GRCm39)	M892V	probably benign	Het
Slc38a11	A	G	2: 65,188,529 (GRCm39)	F80S	probably damaging	Het
Slc6a2	C	A	8: 93,699,554 (GRCm39)	S194*	probably null	Het
Slco2b1	A	G	7: 99,339,686 (GRCm39)	F86L	probably damaging	Het
Smc3	G	A	19: 53,627,845 (GRCm39)	D875N	probably benign	Het
Sp100	G	A	1: 85,636,786 (GRCm39)	E575K	possibly damaging	Het
Spns2	A	G	11: 72,349,866 (GRCm39)	L196P	possibly damaging	Het
Taf8	A	G	17: 47,801,201 (GRCm39)	S261P	probably benign	Het
Trim2	A	G	3: 84,115,596 (GRCm39)	L86P	probably damaging	Het
Ttn	C	A	2: 76,738,138 (GRCm39)	V4134F	probably benign	Het
Ush2a	A	G	1: 188,089,124 (GRCm39)	T360A	probably benign	Het
Usp28	T	A	9: 48,950,375 (GRCm39)	C935S	probably damaging	Het
Vps37d	T	A	5: 135,102,831 (GRCm39)	M134L	probably benign	Het
Vwa2	T	G	19: 56,894,010 (GRCm39)	V329G	probably benign	Het
Zfp110	A	G	7: 12,583,349 (GRCm39)	R666G	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
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
R7670:Myo5b	UTSW	18	74,834,517 (GRCm39)	missense	probably benign	0.05
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'- TAATCAGTTCCACGTGGCCC -3'
(R):5'- ATTCTCCCTCACTCAGCAGGTG -3'

Sequencing Primer
(F):5'- CCGGTCTCTGTAGCAATCATAAG -3'
(R):5'- AGCAGGTGCCTCCACTTAC -3'

Posted On

2014-08-25