Mutagenetix > Incidental Mutation

Incidental Mutation 'R4781:Myo5b'

366538

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

042415-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.734) question?

Stock #

R4781 (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 74877752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1584 (T1584S)

Ref Sequence

ENSEMBL: ENSMUSP00000112728 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074157
AA Change: T1558S

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: T1558S

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

possibly damaging
Transcript: ENSMUST00000121875
AA Change: T1584S

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: T1584S

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

Meta Mutation Damage Score

0.0786

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (74/74)

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
2310022A10Rik	T	A	7: 27,271,076 (GRCm39)	I157N	probably damaging	Het
Adgrl3	T	C	5: 81,908,571 (GRCm39)	Y1165H	probably damaging	Het
Adra2a	A	G	19: 54,034,926 (GRCm39)	D94G	probably damaging	Het
Akr1c20	T	A	13: 4,558,174 (GRCm39)	K197*	probably null	Het
Ankrd65	C	T	4: 155,877,493 (GRCm39)	H335Y	possibly damaging	Het
Axin2	T	A	11: 108,834,682 (GRCm39)	L636Q	probably damaging	Het
Camk1g	G	T	1: 193,038,652 (GRCm39)	T90N	probably benign	Het
Cd177	C	A	7: 24,450,051 (GRCm39)	C528F	probably damaging	Het
Cntnap5a	A	T	1: 116,339,931 (GRCm39)	D730V	possibly damaging	Het
Crtap	T	C	9: 114,215,304 (GRCm39)	D195G	probably benign	Het
Csn1s2b	A	G	5: 87,966,952 (GRCm39)	S74G	possibly damaging	Het
Cyp3a16	T	C	5: 145,392,922 (GRCm39)	R128G	possibly damaging	Het
Dnah7a	A	G	1: 53,464,367 (GRCm39)	F3675L	probably benign	Het
Dram2	T	A	3: 106,478,992 (GRCm39)	W195R	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057 (GRCm39)	P297L	probably benign	Het
Eif3i	T	C	4: 129,489,066 (GRCm39)	S83G	probably benign	Het
Gabra1	G	A	11: 42,024,488 (GRCm39)	P396S	probably damaging	Het
Gipr	T	A	7: 18,891,300 (GRCm39)	Y459F	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm6981	T	C	9: 51,914,056 (GRCm39)		noncoding transcript	Het
Grin2d	T	C	7: 45,511,905 (GRCm39)	D180G	probably damaging	Het
Hectd4	T	G	5: 121,444,170 (GRCm39)		probably null	Het
Hhat	T	C	1: 192,369,287 (GRCm39)		probably benign	Het
Hoxa6	A	G	6: 52,183,400 (GRCm39)	L215P	possibly damaging	Het
Hsf4	G	A	8: 106,001,384 (GRCm39)		probably null	Het
Igf1r	G	A	7: 67,814,947 (GRCm39)	A283T	possibly damaging	Het
Ighv15-2	A	G	12: 114,528,476 (GRCm39)	S25P	probably damaging	Het
Inpp5a	C	T	7: 139,057,921 (GRCm39)	T43I	probably benign	Het
Kmt2c	T	A	5: 25,648,823 (GRCm39)	E82V	probably damaging	Het
Lrrc31	A	G	3: 30,741,526 (GRCm39)		probably benign	Het
Mdga2	A	G	12: 66,844,396 (GRCm39)		probably null	Het
Mefv	G	A	16: 3,533,198 (GRCm39)	P358S	probably benign	Het
Mrgpra9	A	G	7: 46,884,795 (GRCm39)	F291L	possibly damaging	Het
Mtmr3	A	G	11: 4,438,435 (GRCm39)	L673P	probably benign	Het
Muc19	T	C	15: 91,787,360 (GRCm39)		noncoding transcript	Het
Or1x6	A	T	11: 50,939,307 (GRCm39)	R124S	probably damaging	Het
Or4z4	T	C	19: 12,076,731 (GRCm39)	T91A	probably benign	Het
Palld	G	T	8: 62,330,062 (GRCm39)	R272S	probably benign	Het
Pcnx3	T	A	19: 5,737,158 (GRCm39)	N144Y	probably damaging	Het
Prf1	A	G	10: 61,136,203 (GRCm39)	K160E	probably damaging	Het
Rasgrp1	G	A	2: 117,122,190 (GRCm39)	A400V	probably benign	Het
Rnf150	A	G	8: 83,590,781 (GRCm39)	Y48C	probably damaging	Het
Rpl11	G	T	4: 135,777,599 (GRCm39)	Q170K	probably benign	Het
Scin	G	A	12: 40,131,763 (GRCm39)	A257V	possibly damaging	Het
Scn7a	C	A	2: 66,534,104 (GRCm39)	A524S	possibly damaging	Het
Sim1	T	C	10: 50,859,881 (GRCm39)	L581S	probably benign	Het
Skor1	T	C	9: 63,051,741 (GRCm39)	T715A	probably benign	Het
Slc22a26	A	G	19: 7,767,500 (GRCm39)	V301A	probably benign	Het
Sorcs1	T	C	19: 50,171,119 (GRCm39)	Y923C	probably damaging	Het
Src	T	A	2: 157,309,405 (GRCm39)	M304K	possibly damaging	Het
Srgap3	A	T	6: 112,734,386 (GRCm39)		probably benign	Het
Stard3	G	A	11: 98,263,160 (GRCm39)	E72K	possibly damaging	Het
Svep1	T	A	4: 58,070,340 (GRCm39)	N2482I	probably damaging	Het
Tbc1d23	T	C	16: 57,038,778 (GRCm39)	K20R	possibly damaging	Het
Tcstv4	A	C	13: 120,769,698 (GRCm39)	K6T	possibly damaging	Het
Tfip11	G	A	5: 112,481,265 (GRCm39)	E414K	probably damaging	Het
Tinag	G	T	9: 76,904,232 (GRCm39)	T397K	possibly damaging	Het
Traf7	C	G	17: 24,729,412 (GRCm39)		probably benign	Het
Trmt10b	T	A	4: 45,305,817 (GRCm39)	I164N	probably damaging	Het
Trpm1	A	G	7: 63,884,800 (GRCm39)	D827G	probably benign	Het
Ube2u	A	T	4: 100,343,855 (GRCm39)	T85S	probably benign	Het
Ulk4	T	C	9: 120,932,642 (GRCm39)	D1066G	probably benign	Het
Vmn2r72	T	A	7: 85,387,069 (GRCm39)	I832F	probably benign	Het
Yipf1	A	C	4: 107,193,355 (GRCm39)	E80D	probably benign	Het
Zfp40	T	A	17: 23,394,629 (GRCm39)	R653W	probably damaging	Het
Zxdc	A	G	6: 90,349,535 (GRCm39)	T308A	probably damaging	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
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'- CCACTTCTTCAAGGTCCAGG -3'
(R):5'- TGGTTCCCAAAAGGCAAGGC -3'

Sequencing Primer
(F):5'- CCACGTTGTCTAGAGCATTACATGTG -3'
(R):5'- CAAACTTGCCACAGCCCTC -3'

Posted On

2015-12-29