Mutagenetix > Incidental Mutation

Incidental Mutation 'R5715:Myo5b'

451148

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

043336-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.769) question?

Stock #

R5715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74575435-74905769 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74875246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 1550 (C1550F)

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: C1524F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: C1524F

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: C1550F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: C1550F

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: 97.4%
20x: 95.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	A	11: 48,910,777 (GRCm39)	Y552F	probably damaging	Het
Asprv1	T	A	6: 86,605,596 (GRCm39)	D147E	probably benign	Het
Atg4c	G	T	4: 99,146,639 (GRCm39)	L405F	probably damaging	Het
Birc6	C	T	17: 74,938,615 (GRCm39)	L2670F	probably damaging	Het
Cdc20	T	C	4: 118,292,015 (GRCm39)	D379G	probably damaging	Het
Chd6	T	C	2: 160,791,798 (GRCm39)	M2520V	probably benign	Het
Clca4b	A	G	3: 144,619,018 (GRCm39)	V707A	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,523,347 (GRCm39)	C2743*	probably null	Het
Coq6	C	A	12: 84,413,681 (GRCm39)	D70E	probably benign	Het
Cspg4	T	A	9: 56,798,335 (GRCm39)	V1450D	possibly damaging	Het
Dnah7a	A	G	1: 53,452,937 (GRCm39)	L3847P	probably damaging	Het
Drd2	T	A	9: 49,316,189 (GRCm39)	H316Q	probably benign	Het
Dusp19	T	A	2: 80,461,330 (GRCm39)	N206K	probably benign	Het
Fam13c	T	G	10: 70,370,670 (GRCm39)	F270C	probably damaging	Het
Fam20a	T	C	11: 109,569,257 (GRCm39)	E246G	probably damaging	Het
Fbxo31	A	G	8: 122,305,302 (GRCm39)	F65L	probably damaging	Het
Fshr	T	A	17: 89,293,824 (GRCm39)		probably null	Het
Fstl4	T	C	11: 52,891,243 (GRCm39)	V127A	possibly damaging	Het
Gdpd4	A	T	7: 97,610,804 (GRCm39)	I75F	probably benign	Het
Grm5	C	A	7: 87,779,464 (GRCm39)	A968E	probably benign	Het
Gucy2g	A	C	19: 55,221,587 (GRCm39)	F305V	possibly damaging	Het
Hivep3	T	C	4: 119,953,570 (GRCm39)	F629L	probably benign	Het
Hoxb1	A	G	11: 96,257,152 (GRCm39)	E167G	probably benign	Het
Hoxd4	T	C	2: 74,557,708 (GRCm39)	L29P	probably damaging	Het
Ikbkb	A	G	8: 23,168,866 (GRCm39)	L211P	probably damaging	Het
Insc	T	C	7: 114,449,076 (GRCm39)	V499A	probably benign	Het
Irak3	A	T	10: 119,978,641 (GRCm39)	H511Q	possibly damaging	Het
Itpripl1	T	C	2: 126,983,927 (GRCm39)	E65G	probably damaging	Het
Lurap1l	T	A	4: 80,871,958 (GRCm39)	S150R	possibly damaging	Het
Mab21l3	C	T	3: 101,730,723 (GRCm39)	R172Q	probably benign	Het
Macf1	T	C	4: 123,577,807 (GRCm39)	D59G	probably damaging	Het
Mettl21a	A	T	1: 64,654,314 (GRCm39)	S68T	probably benign	Het
Mlxip	T	A	5: 123,578,121 (GRCm39)	W146R	probably damaging	Het
Mpp2	T	A	11: 101,953,087 (GRCm39)	N285I	probably damaging	Het
Mrgprb4	T	C	7: 47,848,787 (GRCm39)	N47S	probably damaging	Het
Msi2	A	G	11: 88,276,889 (GRCm39)	Y237H	probably damaging	Het
Muc4	C	T	16: 32,570,734 (GRCm39)	T598I	possibly damaging	Het
Musk	A	T	4: 58,333,663 (GRCm39)	I253F	probably damaging	Het
Nckap5l	T	C	15: 99,321,457 (GRCm39)	T1137A	probably benign	Het
Neb	T	C	2: 52,141,780 (GRCm39)	D3009G	probably damaging	Het
Nxph1	T	A	6: 9,247,740 (GRCm39)	V237E	probably damaging	Het
Or52a33	A	C	7: 103,289,009 (GRCm39)	S113A	probably damaging	Het
Pla2g12a	A	G	3: 129,688,591 (GRCm39)	K150E	probably damaging	Het
Potegl	T	C	2: 23,097,989 (GRCm39)	Y56H	possibly damaging	Het
Pramel30	A	G	4: 144,057,870 (GRCm39)	D159G	possibly damaging	Het
Ptpn23	G	A	9: 110,216,143 (GRCm39)	R1238W	probably damaging	Het
Pts	C	T	9: 50,433,578 (GRCm39)	G124R	probably damaging	Het
Rfk	A	T	19: 17,376,002 (GRCm39)	I99F	probably benign	Het
Rictor	A	T	15: 6,780,197 (GRCm39)	R151*	probably null	Het
Scn2a	T	A	2: 65,547,928 (GRCm39)	I1040N	probably benign	Het
Serinc5	A	C	13: 92,842,710 (GRCm39)	T387P	probably damaging	Het
Sh3bp5l	A	G	11: 58,236,841 (GRCm39)	Q266R	possibly damaging	Het
Slc14a2	T	C	18: 78,201,551 (GRCm39)	Y656C	probably damaging	Het
Slc26a3	T	A	12: 31,498,842 (GRCm39)		probably null	Het
Slc3a2	G	T	19: 8,685,594 (GRCm39)	H168Q	probably benign	Het
Smarca2	A	T	19: 26,626,522 (GRCm39)	I449L	probably benign	Het
Smarcc1	T	C	9: 110,025,435 (GRCm39)	V704A	possibly damaging	Het
Sox13	A	G	1: 133,313,921 (GRCm39)		probably null	Het
Sptbn5	T	C	2: 119,902,985 (GRCm39)	E7G	probably damaging	Het
Stard10	A	G	7: 100,971,110 (GRCm39)	D26G	probably damaging	Het
Tap1	A	T	17: 34,411,868 (GRCm39)	R91*	probably null	Het
Tgfbrap1	A	T	1: 43,099,097 (GRCm39)	V239D	possibly damaging	Het
Tmem209	A	T	6: 30,497,922 (GRCm39)	Y124*	probably null	Het
Tmprss2	T	A	16: 97,370,183 (GRCm39)	E327V	possibly damaging	Het
Ttbk1	T	C	17: 46,790,133 (GRCm39)	Y104C	probably damaging	Het
Ttll10	A	T	4: 156,129,848 (GRCm39)	F154I	probably damaging	Het
Ubn2	T	A	6: 38,438,412 (GRCm39)	Y40*	probably null	Het
Ubr5	A	T	15: 38,002,477 (GRCm39)	S1519T	probably benign	Het
Ugt3a1	A	C	15: 9,306,430 (GRCm39)	D193A	probably damaging	Het
Upf1	A	T	8: 70,805,628 (GRCm39)	Y6N	probably damaging	Het
Vmn2r103	A	T	17: 20,015,201 (GRCm39)	D447V	probably benign	Het
Vps39	T	C	2: 120,155,717 (GRCm39)	N519S	possibly damaging	Het
Zfp109	T	C	7: 23,928,995 (GRCm39)	E138G	possibly damaging	Het
Znrf3	A	C	11: 5,236,239 (GRCm39)	V157G	possibly 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
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
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'- CAAAGATTAGCTCTGCTGGGAC -3'
(R):5'- CCCAGTCTTGCAAAGAAAGGC -3'

Sequencing Primer
(F):5'- TCTGCTGGGACTGGAAAGC -3'
(R):5'- AGGCATTCCCACAATCTGAGGTTC -3'

Posted On

2017-01-03