Mutagenetix > Incidental Mutation

Incidental Mutation 'R1806:Myo5b'

203494

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

039835-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.734) question?

Stock #

R1806 (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 74710680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 98 (H98L)

Ref Sequence

ENSEMBL: ENSMUSP00000073790 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074157
AA Change: H98L

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: H98L

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

possibly damaging
Transcript: ENSMUST00000121875
AA Change: H98L

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: H98L

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: H96L

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123123
Gene: ENSMUSG00000025885
AA Change: H96L

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

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

96% (77/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,784,571 (GRCm39)	L348P	probably damaging	Het
Adamts15	C	A	9: 30,816,111 (GRCm39)	C616F	probably damaging	Het
Adarb1	T	C	10: 77,158,099 (GRCm39)	N116S	probably damaging	Het
Add2	C	T	6: 86,095,639 (GRCm39)	S437L	probably damaging	Het
Adra1d	T	A	2: 131,388,069 (GRCm39)	R495S	probably benign	Het
Agk	C	T	6: 40,364,429 (GRCm39)	T309I	probably damaging	Het
Aqr	T	C	2: 113,992,133 (GRCm39)	Y81C	probably damaging	Het
Bak1	G	A	17: 27,240,242 (GRCm39)	Q142*	probably null	Het
Bckdha	A	G	7: 25,330,845 (GRCm39)	V307A	probably damaging	Het
Camk2n2	C	A	16: 20,438,948 (GRCm39)	G72V	probably benign	Het
Cd276	A	T	9: 58,434,845 (GRCm39)		probably benign	Het
Cd2ap	G	A	17: 43,149,649 (GRCm39)	Q122*	probably null	Het
Cdan1	T	A	2: 120,561,907 (GRCm39)		probably benign	Het
Cdh3	T	C	8: 107,263,547 (GRCm39)	S156P	probably benign	Het
Chil4	T	A	3: 106,117,959 (GRCm39)		probably benign	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Fcrlb	T	C	1: 170,735,096 (GRCm39)	T344A	probably benign	Het
Fras1	T	A	5: 96,861,829 (GRCm39)		probably benign	Het
Fras1	G	T	5: 96,912,835 (GRCm39)	V3380F	possibly damaging	Het
Galnt9	A	G	5: 110,767,119 (GRCm39)	D530G	possibly damaging	Het
Gja10	A	T	4: 32,601,135 (GRCm39)	S416R	probably benign	Het
Gm10549	T	A	18: 33,603,841 (GRCm39)	V108E	unknown	Het
Hook3	A	T	8: 26,558,687 (GRCm39)	L59Q	probably damaging	Het
Hpf1	T	A	8: 61,353,154 (GRCm39)	D178E	probably benign	Het
Hsd17b7	T	C	1: 169,788,698 (GRCm39)	N173S	possibly damaging	Het
Hsph1	A	G	5: 149,553,454 (GRCm39)	F236L	probably damaging	Het
Kcnk12	G	T	17: 88,053,537 (GRCm39)	T375K	probably benign	Het
Klra3	A	T	6: 130,304,033 (GRCm39)	S220T	probably damaging	Het
Lhx1	A	T	11: 84,414,967 (GRCm39)	L12Q	probably damaging	Het
Lnx1	A	G	5: 74,766,710 (GRCm39)	L468P	probably damaging	Het
Ltbp3	T	A	19: 5,803,970 (GRCm39)	C827*	probably null	Het
Mical1	C	T	10: 41,354,210 (GRCm39)	A53V	probably damaging	Het
Mmp10	A	T	9: 7,506,502 (GRCm39)	H326L	probably benign	Het
Mpl	A	T	4: 118,300,729 (GRCm39)	M600K	possibly damaging	Het
Muc5b	T	A	7: 141,419,230 (GRCm39)	D4004E	possibly damaging	Het
Nbeal1	A	G	1: 60,323,251 (GRCm39)	T2110A	probably damaging	Het
Nedd4l	C	A	18: 65,345,862 (GRCm39)	R825S	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or4k35	A	T	2: 111,100,622 (GRCm39)	I30N	possibly damaging	Het
Or52e19	T	A	7: 102,959,432 (GRCm39)	L168Q	probably damaging	Het
Or8k41	A	T	2: 86,313,483 (GRCm39)	I201N	probably damaging	Het
Otog	A	T	7: 45,940,361 (GRCm39)		probably null	Het
Parp2	T	A	14: 51,056,836 (GRCm39)	L320H	probably damaging	Het
Poglut3	T	C	9: 53,307,150 (GRCm39)	Y365H	probably damaging	Het
Pola2	C	T	19: 5,993,250 (GRCm39)		probably null	Het
Poln	A	T	5: 34,264,494 (GRCm39)		probably benign	Het
Pomt1	T	A	2: 32,131,680 (GRCm39)	V123E	probably damaging	Het
Prom2	T	C	2: 127,374,802 (GRCm39)	Y578C	probably damaging	Het
Prss23	T	C	7: 89,159,599 (GRCm39)	T157A	probably damaging	Het
Sdk1	T	A	5: 141,598,950 (GRCm39)	V205E	probably damaging	Het
Sdk1	A	G	5: 142,147,681 (GRCm39)	K1771R	probably benign	Het
Sidt1	A	T	16: 44,102,234 (GRCm39)	S309T	possibly damaging	Het
Sirpa	T	A	2: 129,457,432 (GRCm39)	F169I	probably damaging	Het
Slc8a1	T	C	17: 81,955,916 (GRCm39)	N374S	probably damaging	Het
Sp110	C	T	1: 85,523,831 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,509,934 (GRCm39)		probably null	Het
Synpr	A	G	14: 13,563,082 (GRCm38)	N105S	probably damaging	Het
Tbc1d16	T	C	11: 119,046,927 (GRCm39)	Y440C	probably damaging	Het
Trabd	A	G	15: 88,969,824 (GRCm39)	I313V	possibly damaging	Het
Trappc10	T	C	10: 78,046,610 (GRCm39)	R430G	probably damaging	Het
Trim50	A	G	5: 135,387,743 (GRCm39)	E145G	probably benign	Het
Uba2	A	T	7: 33,862,624 (GRCm39)	F105I	probably damaging	Het
Uba3	A	G	6: 97,176,230 (GRCm39)	V92A	possibly damaging	Het
Uhmk1	T	C	1: 170,038,628 (GRCm39)	K153R	probably damaging	Het
Vmn2r3	T	C	3: 64,194,810 (GRCm39)	K8R	possibly damaging	Het
Vmn2r3	T	A	3: 64,182,893 (GRCm39)	M269L	probably benign	Het
Xpot	G	T	10: 121,443,543 (GRCm39)		probably benign	Het
Zfp128	A	G	7: 12,624,949 (GRCm39)	Y439C	probably benign	Het
Zfy1	T	A	Y: 725,620 (GRCm39)	H715L	possibly damaging	Het
Zmym1	A	C	4: 126,941,872 (GRCm39)	L839V	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
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
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'- TAGTGATCCCAGCCAAAGAGATAAG -3'
(R):5'- CGGCCATCTCCTATGCAAAG -3'

Sequencing Primer
(F):5'- TGGGCTAAATGATTCATAATTGTGC -3'
(R):5'- GCCATCTCCTATGCAAAGTTCATATG -3'

Posted On

2014-06-23