Mutagenetix > Incidental Mutation

Incidental Mutation 'R5004:Myo5b'

390121

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

042597-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.707) question?

Stock #

R5004 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74440936-74771493 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 74744773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112728 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000074157

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885

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 null
Transcript: ENSMUST00000121875

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885

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 null
Transcript: ENSMUST00000121875

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885

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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	A	C	8: 13,555,927	D189E	possibly damaging	Het
2610528A11Rik	A	T	14: 37,102,665	C60S	probably damaging	Het
Abca5	C	T	11: 110,279,376	E1298K	probably damaging	Het
Actg1	C	A	11: 120,348,160		probably benign	Het
Add2	A	G	6: 86,096,746	T206A	probably benign	Het
Alox12e	A	G	11: 70,321,504	V116A	probably benign	Het
Ankrd27	T	A	7: 35,608,375	D346E	probably damaging	Het
Arfgap3	T	A	15: 83,310,296	S391C	possibly damaging	Het
Bcor	C	T	X: 12,040,486	R1551Q	probably damaging	Het
Cars2	C	T	8: 11,518,956		probably null	Het
Cav3	A	G	6: 112,459,924	K38R	probably damaging	Het
Ccdc159	G	A	9: 21,932,945	R101H	probably damaging	Het
Cops7b	A	G	1: 86,587,410		probably benign	Het
Cyp4a12b	C	T	4: 115,438,113	T472I	probably benign	Het
Cyp4a32	T	C	4: 115,601,041	S23P	probably damaging	Het
Cyp4f13	T	G	17: 32,925,786	I275L	probably benign	Het
Dlgap1	T	A	17: 70,718,227		probably null	Het
Dnajc12	A	T	10: 63,386,707	I4L	probably benign	Het
Ephb2	T	A	4: 136,659,699	D739V	possibly damaging	Het
Fam169a	A	G	13: 97,097,592	Y124C	probably damaging	Het
Fbln5	T	A	12: 101,760,821	N303I	probably damaging	Het
Fdxr	T	C	11: 115,269,573	E352G	probably benign	Het
Fhad1	T	G	4: 142,002,599		probably null	Het
Fhod1	C	T	8: 105,336,945		probably benign	Het
Fndc7	G	A	3: 108,883,473	T79M	probably damaging	Het
Fry	A	G	5: 150,433,604	Q1872R	probably benign	Het
Gbx1	T	C	5: 24,504,839	H336R	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm13088	T	C	4: 143,654,136	Q439R	probably benign	Het
Hacl1	C	A	14: 31,619,039	C346F	probably benign	Het
Hectd4	C	A	5: 121,328,199		probably null	Het
Hectd4	C	T	5: 121,329,565	P2526S	possibly damaging	Het
Il3ra	A	T	14: 14,355,381	E289D	probably benign	Het
Itih4	T	G	14: 30,892,672	L497R	probably damaging	Het
Kcnh3	A	T	15: 99,226,502	K91*	probably null	Het
Kiz	C	G	2: 146,969,979	D669E	possibly damaging	Het
Klhl30	T	A	1: 91,359,324		probably null	Het
Kndc1	C	A	7: 139,932,879	C1514*	probably null	Het
Lipo2	A	G	19: 33,721,676		probably null	Het
Macf1	T	C	4: 123,385,475	D5921G	probably damaging	Het
Mau2	A	G	8: 70,025,887	Y394H	probably damaging	Het
Mctp1	T	A	13: 76,641,804	S50R	possibly damaging	Het
Mllt10	T	C	2: 18,170,268	Y3H	probably damaging	Het
Mon1b	T	C	8: 113,639,227	S396P	probably damaging	Het
Mrgpra4	A	C	7: 47,981,787	L22R	probably benign	Het
Msln	T	G	17: 25,754,219	M1L	possibly damaging	Het
Myh15	T	A	16: 49,132,048	I827N	probably damaging	Het
Myh7	T	C	14: 54,971,683	D1866G	probably damaging	Het
Nlrc5	T	G	8: 94,521,216		probably benign	Het
Nup210l	A	T	3: 90,180,165	R1082*	probably null	Het
Olfr1289	G	A	2: 111,483,660	V105I	possibly damaging	Het
Olfr360	A	G	2: 37,068,410	Y35C	probably damaging	Het
Olfr487	T	A	7: 108,212,116	K138*	probably null	Het
Olfr860	T	C	9: 19,846,102	I172M	probably benign	Het
Pi4ka	A	T	16: 17,377,169	C122S	probably damaging	Het
Pkd2l1	G	T	19: 44,149,577	A690E	probably benign	Het
Prickle2	A	T	6: 92,416,755	D312E	probably benign	Het
Prrc2a	T	A	17: 35,149,998	N2021Y	probably benign	Het
Prss3	T	C	6: 41,373,902	Y218C	probably damaging	Het
Psg20	T	C	7: 18,680,912	T350A	probably damaging	Het
Ptprg	A	T	14: 12,220,667	I1235F	probably damaging	Het
Ptprk	T	A	10: 28,586,063	D1181E	possibly damaging	Het
Rcc2	T	A	4: 140,717,666	S415T	possibly damaging	Het
Ripor1	CAA	CA	8: 105,618,820		probably null	Het
Rnf31	T	C	14: 55,592,182	L68P	probably damaging	Het
Rsph6a	A	T	7: 19,057,740	E278V	possibly damaging	Het
Rubcnl	C	T	14: 75,032,177	Q92*	probably null	Het
Scfd1	A	G	12: 51,444,994	R580G	probably benign	Het
Sec31a	A	T	5: 100,368,333	N967K	probably damaging	Het
Sema4b	C	A	7: 80,216,345	T154N	probably benign	Het
Sept14	T	A	5: 129,692,976	I219F	possibly damaging	Het
Serpinb9c	A	T	13: 33,150,355	S235T	probably benign	Het
Setd4	G	T	16: 93,591,245	H118N	probably benign	Het
Siglec1	C	T	2: 131,069,869	V1697M	probably benign	Het
Siglec1	A	T	2: 131,073,411	L1420Q	possibly damaging	Het
Soat2	T	A	15: 102,161,111	H402Q	probably damaging	Het
Sp3	A	T	2: 72,938,289	V666D	probably benign	Het
Spef2	T	G	15: 9,578,327	S1704R	probably benign	Het
Spidr	A	T	16: 16,118,942	W100R	possibly damaging	Het
Steap1	G	T	5: 5,742,829	Y27*	probably null	Het
Svep1	G	T	4: 58,087,751	T1776K	probably benign	Het
Tdpoz1	T	A	3: 93,671,133	T115S	probably benign	Het
Tet2	A	T	3: 133,487,379	H431Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,721,046	V170G	probably benign	Het
Tom1	T	C	8: 75,052,002	L99P	probably damaging	Het
Trim11	C	A	11: 58,981,338		probably benign	Het
Trio	T	C	15: 27,755,178	K955R	probably damaging	Het
Tubd1	C	T	11: 86,561,320	T371I	probably damaging	Het
Usp17lb	C	T	7: 104,841,677	M13I	probably benign	Het
Usp29	A	G	7: 6,962,159	M334V	probably benign	Het
Usp34	A	G	11: 23,464,586	Y2843C	probably damaging	Het
Utp20	A	T	10: 88,748,273	I2674N	probably damaging	Het
Vmn2r14	T	G	5: 109,220,380	T249P	probably benign	Het
Vmn2r43	A	T	7: 8,244,849	F772I	probably damaging	Het
Vmn2r51	T	A	7: 10,088,005	E584D	probably benign	Het
Zbtb22	G	T	17: 33,917,243	A121S	probably benign	Het
Zfp273	A	T	13: 67,825,554	H267L	probably damaging	Het
Zkscan2	C	T	7: 123,490,044	V335M	probably damaging	Het

Other mutations in Myo5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00798:Myo5b	APN	18	74654076	splice site	probably benign
IGL01083:Myo5b	APN	18	74733903	splice site	probably benign
IGL01448:Myo5b	APN	18	74644090	missense	probably damaging	0.97
IGL01516:Myo5b	APN	18	74627195	missense	probably damaging	0.99
IGL01525:Myo5b	APN	18	74740549	missense	probably damaging	1.00
IGL01873:Myo5b	APN	18	74580396	missense	probably damaging	1.00
IGL01887:Myo5b	APN	18	74714936	missense	probably benign	0.41
IGL01953:Myo5b	APN	18	74569767	missense	possibly damaging	0.62
IGL01976:Myo5b	APN	18	74698277	missense	probably damaging	1.00
IGL02017:Myo5b	APN	18	74716999	missense	probably damaging	1.00
IGL02331:Myo5b	APN	18	74638040	critical splice acceptor site	probably null
IGL02624:Myo5b	APN	18	74714939	missense	probably damaging	0.98
IGL02707:Myo5b	APN	18	74695367	splice site	probably benign
IGL02806:Myo5b	APN	18	74617080	critical splice donor site	probably null
IGL03009:Myo5b	APN	18	74760968	missense	possibly damaging	0.54
IGL03061:Myo5b	APN	18	74634559	missense	probably benign	0.02
IGL03061:Myo5b	APN	18	74580544	splice site	probably benign
unrat	UTSW	18	74653361	missense	possibly damaging	0.93
BB007:Myo5b	UTSW	18	74731754	missense	probably benign
BB017:Myo5b	UTSW	18	74731754	missense	probably benign
R0085:Myo5b	UTSW	18	74701680	missense	probably benign	0.21
R0114:Myo5b	UTSW	18	74742171	missense	probably benign	0.03
R0226:Myo5b	UTSW	18	74742180	missense	probably benign
R0242:Myo5b	UTSW	18	74661716	missense	possibly damaging	0.95
R0242:Myo5b	UTSW	18	74661716	missense	possibly damaging	0.95
R0471:Myo5b	UTSW	18	74728954	splice site	probably benign
R0494:Myo5b	UTSW	18	74653967	missense	probably damaging	1.00
R0920:Myo5b	UTSW	18	74625641	missense	probably benign	0.09
R1144:Myo5b	UTSW	18	74625587	missense	probably damaging	1.00
R1177:Myo5b	UTSW	18	74644072	missense	probably damaging	1.00
R1387:Myo5b	UTSW	18	74644201	splice site	probably benign
R1468:Myo5b	UTSW	18	74740503	missense	probably damaging	0.99
R1468:Myo5b	UTSW	18	74740503	missense	probably damaging	0.99
R1555:Myo5b	UTSW	18	74569782	missense	probably damaging	1.00
R1587:Myo5b	UTSW	18	74733990	missense	probably benign
R1600:Myo5b	UTSW	18	74713540	unclassified	probably benign
R1639:Myo5b	UTSW	18	74707916	missense	probably benign	0.19
R1779:Myo5b	UTSW	18	74742147	missense	probably benign	0.06
R1806:Myo5b	UTSW	18	74577609	missense	possibly damaging	0.91
R1929:Myo5b	UTSW	18	74733925	missense	probably damaging	0.99
R2046:Myo5b	UTSW	18	74577455	missense	probably benign	0.28
R2093:Myo5b	UTSW	18	74759192	missense	probably damaging	0.98
R2270:Myo5b	UTSW	18	74733925	missense	probably damaging	0.99
R2272:Myo5b	UTSW	18	74733925	missense	probably damaging	0.99
R2298:Myo5b	UTSW	18	74625605	missense	probably damaging	1.00
R2433:Myo5b	UTSW	18	74759087	missense	probably damaging	1.00
R2888:Myo5b	UTSW	18	74762618	missense	probably damaging	1.00
R3824:Myo5b	UTSW	18	74661655	missense	probably benign	0.41
R3937:Myo5b	UTSW	18	74716037	missense	probably damaging	0.98
R3938:Myo5b	UTSW	18	74716037	missense	probably damaging	0.98
R3947:Myo5b	UTSW	18	74695403	missense	probably damaging	1.00
R3971:Myo5b	UTSW	18	74740527	missense	probably damaging	1.00
R3972:Myo5b	UTSW	18	74740527	missense	probably damaging	1.00
R3974:Myo5b	UTSW	18	74634481	missense	probably damaging	1.00
R4027:Myo5b	UTSW	18	74759240	missense	possibly damaging	0.67
R4080:Myo5b	UTSW	18	74740488	missense	probably benign
R4285:Myo5b	UTSW	18	74714849	missense	probably benign
R4308:Myo5b	UTSW	18	74731740	missense	possibly damaging	0.89
R4411:Myo5b	UTSW	18	74698274	missense	possibly damaging	0.89
R4415:Myo5b	UTSW	18	74580408	missense	probably damaging	1.00
R4516:Myo5b	UTSW	18	74625674	missense	probably damaging	1.00
R4690:Myo5b	UTSW	18	74722462	missense	probably damaging	0.97
R4781:Myo5b	UTSW	18	74744681	missense	possibly damaging	0.80
R4786:Myo5b	UTSW	18	74695380	missense	probably benign	0.01
R4796:Myo5b	UTSW	18	74744630	missense	possibly damaging	0.68
R4924:Myo5b	UTSW	18	74695384	missense	probably benign	0.19
R4972:Myo5b	UTSW	18	74627193	missense	probably damaging	0.98
R5024:Myo5b	UTSW	18	74716034	missense	possibly damaging	0.90
R5043:Myo5b	UTSW	18	74638153	critical splice donor site	probably null
R5187:Myo5b	UTSW	18	74701674	missense	possibly damaging	0.68
R5232:Myo5b	UTSW	18	74714932	missense	probably damaging	0.99
R5254:Myo5b	UTSW	18	74700606	missense	possibly damaging	0.65
R5255:Myo5b	UTSW	18	74662670	missense	possibly damaging	0.94
R5715:Myo5b	UTSW	18	74742175	missense	possibly damaging	0.88
R5733:Myo5b	UTSW	18	74654057	missense	possibly damaging	0.93
R5797:Myo5b	UTSW	18	74701521	missense	probably benign
R5875:Myo5b	UTSW	18	74707902	splice site	probably null
R6088:Myo5b	UTSW	18	74720898	missense	possibly damaging	0.89
R6104:Myo5b	UTSW	18	74700679	missense	probably benign	0.19
R6237:Myo5b	UTSW	18	74742178	missense	probably damaging	1.00
R6265:Myo5b	UTSW	18	74577440	splice site	probably null
R6267:Myo5b	UTSW	18	74616991	missense	probably damaging	1.00
R6328:Myo5b	UTSW	18	74616993	missense	probably damaging	1.00
R6330:Myo5b	UTSW	18	74616993	missense	probably damaging	1.00
R6331:Myo5b	UTSW	18	74616993	missense	probably damaging	1.00
R6347:Myo5b	UTSW	18	74770385	missense	probably benign	0.11
R6479:Myo5b	UTSW	18	74617015	missense	probably damaging	1.00
R6748:Myo5b	UTSW	18	74701503	missense	possibly damaging	0.80
R6749:Myo5b	UTSW	18	74701503	missense	possibly damaging	0.80
R6750:Myo5b	UTSW	18	74617035	missense	possibly damaging	0.74
R6833:Myo5b	UTSW	18	74770325	missense	probably benign
R6876:Myo5b	UTSW	18	74707955	missense	probably benign
R6880:Myo5b	UTSW	18	74722430	missense	probably benign	0.02
R6902:Myo5b	UTSW	18	74676685	missense	possibly damaging	0.95
R6985:Myo5b	UTSW	18	74653361	missense	possibly damaging	0.93
R7039:Myo5b	UTSW	18	74701528	missense	probably benign	0.01
R7162:Myo5b	UTSW	18	74695427	missense	probably benign	0.02
R7345:Myo5b	UTSW	18	74708024	missense	possibly damaging	0.82
R7530:Myo5b	UTSW	18	74731731	missense	probably benign	0.00
R7564:Myo5b	UTSW	18	74634511	missense	possibly damaging	0.84
R7629:Myo5b	UTSW	18	74627254	critical splice donor site	probably null
R7635:Myo5b	UTSW	18	74580396	missense	probably damaging	1.00
R7670:Myo5b	UTSW	18	74701446	missense	probably benign	0.05
R7754:Myo5b	UTSW	18	74634559	missense	probably benign	0.02
R7930:Myo5b	UTSW	18	74731754	missense	probably benign
R8013:Myo5b	UTSW	18	74760899	nonsense	probably null
R8271:Myo5b	UTSW	18	74627190	missense	probably damaging	1.00
R8312:Myo5b	UTSW	18	74733962	missense	probably damaging	1.00
R8383:Myo5b	UTSW	18	74643978	missense	probably benign	0.05
R8384:Myo5b	UTSW	18	74742202	missense	probably damaging	1.00
R8474:Myo5b	UTSW	18	74770340	missense	probably damaging	1.00
R8825:Myo5b	UTSW	18	74759098	missense	possibly damaging	0.79
R8846:Myo5b	UTSW	18	74707972	missense	probably benign	0.04
R9236:Myo5b	UTSW	18	74720863	missense	probably benign
R9283:Myo5b	UTSW	18	74644078	missense	probably benign	0.16
R9370:Myo5b	UTSW	18	74627175	missense	possibly damaging	0.54
R9506:Myo5b	UTSW	18	74744760	missense	possibly damaging	0.82
R9523:Myo5b	UTSW	18	74728897	missense	possibly damaging	0.89
R9622:Myo5b	UTSW	18	74714946	missense	probably damaging	0.99
R9676:Myo5b	UTSW	18	74759160	missense	probably benign	0.22
R9725:Myo5b	UTSW	18	74723770	missense	probably benign
RF009:Myo5b	UTSW	18	74643999	missense	probably damaging	1.00
Z1088:Myo5b	UTSW	18	74744749	missense	probably benign	0.35
Z1177:Myo5b	UTSW	18	74617017	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AGAAGGTTATTCACGCACGCC -3'
(R):5'- TAAGGAAAGCCACCTCACTCTG -3'

Sequencing Primer
(F):5'- GGTTATTCACGCACGCCTTTCC -3'
(R):5'- TCACTCTGCTGGCGTCGTG -3'

Posted On

2016-06-06