Mutagenetix > Incidental Mutation

Incidental Mutation 'RF009:Myo5b'

603100

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

RF009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74440936-74771493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74643999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 377 (C377S)

Ref Sequence

ENSEMBL: ENSMUSP00000073790 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000074157
AA Change: C377S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: C377S

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 damaging
Transcript: ENSMUST00000121875
AA Change: C377S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: C377S

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

96% (53/55)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030445D17Rik	ACACACACCCGC	AC	4: 136,462,350		probably null	Het
AI182371	A	G	2: 35,089,197	V153A	possibly damaging	Het
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
Ankhd1	GCGGCG	GCGGCGTCGGCG	18: 36,560,922		probably benign	Het
Apoc2	C	T	7: 19,671,842	M71I	probably benign	Het
Arhgap17	CTGTTGTTG	CTGTTG	7: 123,286,862		probably benign	Het
Atrn	C	A	2: 130,906,922	T121K	probably benign	Het
Ccdc170	C	CCAG	10: 4,561,030		probably benign	Het
Cckbr	GCA	G	7: 105,434,686		probably null	Het
Cdk13	T	C	13: 17,803,744	D303G	unknown	Het
Cfap65	C	A	1: 74,905,647	R1477L	probably damaging	Het
Chd2	A	G	7: 73,519,662	S37P	possibly damaging	Het
Chga	AGC	AGCCGC	12: 102,561,420		probably benign	Het
Csf2rb2	T	C	15: 78,291,927	I259V	probably benign	Het
Csnk1d	A	T	11: 120,971,627	N275K	possibly damaging	Het
Dmxl1	A	C	18: 49,893,394	R1856S	probably damaging	Het
Dnah5	T	C	15: 28,204,019	V14A	probably benign	Het
Edc4	G	A	8: 105,889,180	S729N	probably benign	Het
Emilin3	T	C	2: 160,909,092	S246G	probably benign	Het
Epc2	T	G	2: 49,532,237		probably null	Het
Exoc6	T	A	19: 37,571,620	F101I	probably benign	Het
Fam171b	GCAGCA	GCAGCACCAGCA	2: 83,812,880		probably benign	Het
Fam81b	CTGTT	CTGTTGTT	13: 76,271,316		probably benign	Het
Flywch1	CTCACCCACTCCTGGTGT	CTCACCCACTCCTGGTGTGGGGAGGCTACGTAGTCACCCACTCCTGGTGT	17: 23,762,161		probably null	Het
Gab3	CTT	CTTATT	X: 75,000,024		probably null	Het
Gab3	TTC	TTCCTC	X: 74,999,992		probably benign	Het
Gabpa	C	A	16: 84,844,336	Q93K	probably benign	Het
Gabre	GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC	GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC	X: 72,270,712		probably benign	Het
Gabre	GGCTCA	GGCTCAAGCTCA	X: 72,270,713		probably benign	Het
Gm35339	GAGGAGGA	G	15: 76,363,167		probably null	Het
Gm36028	T	C	16: 37,854,479	D207G	probably benign	Het
H2-T3	TCCCGAAGAAC	TC	17: 36,189,402		probably benign	Het
Htr5a	A	G	5: 27,842,861	D138G	probably damaging	Het
Ifi207	G	A	1: 173,728,992	P727S	probably benign	Het
Ifna13	T	A	4: 88,643,908	S160C	probably damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Klri2	GGAG	GG	6: 129,733,774		probably null	Het
Lce1m	GTTGCTGCCACTG	GTTGCTGCCACTGTTGCTGCCACTG	3: 93,018,131		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lrch4	A	G	5: 137,637,543		probably null	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,981,676		probably null	Het
Map1a	GCTCCAGC	GCTCCAGCCCCAGCTCCAGCTCCAGCTCCACCTCCAGC	2: 121,306,301		probably benign	Het
Mettl25	T	C	10: 105,833,239		probably benign	Het
Mex3b	A	G	7: 82,867,760	D37G	probably damaging	Het
Mon1a	T	A	9: 107,901,234	V219E	probably damaging	Het
Myh3	GATTA	GATTAATTA	11: 67,086,355		probably null	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myh3	TTACG	TTACGTACG	11: 67,086,357		probably null	Het
Nefh	ACTTGGCCTCAGCTGGGG	ACTTGGCCTCAGCTGGGGCCTTGGCCTCAGCTGGGG	11: 4,940,997		probably benign	Het
Nos1ap	T	C	1: 170,318,581	D468G	probably damaging	Het
Ntn5	T	C	7: 45,693,260		probably null	Het
Olfr194	T	A	16: 59,119,911	H53L	probably damaging	Het
Olfr884	A	T	9: 38,047,747	H175L	probably damaging	Het
Oog2	T	C	4: 144,195,285	V255A	probably benign	Het
Pdgfd	C	A	9: 6,288,624	L93M	probably damaging	Het
Pgls	G	T	8: 71,592,463	V83L	probably damaging	Het
Pigw	C	A	11: 84,877,161	Q447H	probably damaging	Het
Pnmal1	TCATGATGCACCTGCTTCAACATC	TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC	7: 16,961,427		probably benign	Het
Poc1a	C	A	9: 106,295,218	L253M	possibly damaging	Het
Ppl	T	A	16: 5,097,931	E589D	probably benign	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Prx	T	C	7: 27,518,960	F1101S	probably damaging	Het
Rffl	A	G	11: 82,845,772	V26A	probably benign	Het
Scube3	T	A	17: 28,168,397	L923Q	probably damaging	Het
Setd2	C	T	9: 110,550,711	P1198L	probably damaging	Het
Shank2	C	A	7: 144,411,571	A972E	possibly damaging	Het
Slc10a6	A	G	5: 103,608,992	L302P	probably damaging	Het
Slc29a3	C	T	10: 60,750,561	G42D	probably benign	Het
Spg20	T	C	3: 55,127,606	V471A	probably benign	Het
Srebf1	T	C	11: 60,204,116	T486A	probably benign	Het
Sspo	T	A	6: 48,459,985	Y1284*	probably null	Het
Supt20	AGCAGC	AGCAGCCGCAGC	3: 54,727,662		probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743		probably benign	Het
Tff1	CTTCCTG	C	17: 31,164,927		probably benign	Het
Tmprss13	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	ATCTCCAGCAAGGGCACCTCCTCAGGGCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	9: 45,328,464		probably benign	Het
Tnfrsf25	T	C	4: 152,119,624	W341R	probably damaging	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,801,287		probably benign	Het
Trav8d-1	T	A	14: 52,778,750	L31Q	probably damaging	Het
Ttc23	A	T	7: 67,726,029	I452F	possibly damaging	Het
Uimc1	T	C	13: 55,050,785	E526G	possibly damaging	Het
Ulbp1	T	A	10: 7,447,405	K233N	unknown	Het
Usp17ld	A	T	7: 103,250,288	V479E	probably damaging	Het
Utrn	T	TGTTACCC	10: 12,633,945		probably null	Het
Vmn1r9	C	T	6: 57,071,480	S180L	probably benign	Het
Zfp598	CACC	CACCCCTACC	17: 24,680,787		probably benign	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
R5004:Myo5b	UTSW	18	74744773	critical splice donor site	probably null
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
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'- GTAAGATGGGACGTGTGCAC -3'
(R):5'- TGAAGGAGTGCTGCTTAAGG -3'

Sequencing Primer
(F):5'- AATGCCCTACAGTTGGATCTCATGG -3'
(R):5'- CTGCTTAAGGGAGGTGTGCAG -3'

Posted On

2019-12-04