Mutagenetix > Incidental Mutation

Incidental Mutation 'R4690:Myo5b'

354884

Institutional Source

Beutler Lab

Gene Symbol

Myo5b

Ensembl Gene

ENSMUSG00000025885

Gene Name

myosin VB

Synonyms

MMRRC Submission

041941-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.716) question?

Stock #

R4690 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

74440936-74771493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74722462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 1241 (N1241Y)

Ref Sequence

ENSEMBL: ENSMUSP00000112728 (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: N1241Y

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: N1241Y

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: N1241Y

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: N1241Y

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: ENSMUST00000146253

Meta Mutation Damage Score

0.0991

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

98% (89/91)

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
Abca9	A	G	11: 110,148,880	F436L	probably damaging	Het
Adam28	G	T	14: 68,642,048	Q184K	probably benign	Het
Adh6a	A	G	3: 138,326,171	T275A	possibly damaging	Het
Agap2	A	G	10: 127,091,375	D1082G	possibly damaging	Het
Alox5	A	T	6: 116,423,189	V263E	probably damaging	Het
Arhgef16	C	T	4: 154,287,963		probably null	Het
Bspry	G	A	4: 62,486,525	R186Q	probably damaging	Het
Ccdc188	T	A	16: 18,218,295	H111Q	probably damaging	Het
Cd40	T	C	2: 165,069,695	F209S	possibly damaging	Het
Cfap43	C	A	19: 47,747,859	V1398L	probably benign	Het
Cln3	A	T	7: 126,575,393	I286N	possibly damaging	Het
Col9a1	T	C	1: 24,224,706		probably null	Het
Cpne9	A	G	6: 113,302,055	E470G	probably damaging	Het
Cul5	A	T	9: 53,622,871	W654R	probably damaging	Het
Cyp2a22	T	A	7: 26,939,209	K51*	probably null	Het
Dcaf10	G	A	4: 45,372,769	R394Q	possibly damaging	Het
Dot1l	C	A	10: 80,786,182	S556*	probably null	Het
Eif3d	A	T	15: 77,967,316	M98K	probably benign	Het
Fam205c	T	A	4: 42,873,032		probably null	Het
Fiz1	A	G	7: 5,009,168	V117A	probably benign	Het
Fryl	A	G	5: 73,100,293	V722A	probably benign	Het
Gm3095	G	T	14: 3,964,471	R63I	probably benign	Het
Gm7133	A	T	1: 97,269,499		noncoding transcript	Het
Gm813	G	A	16: 58,613,970	T128I	probably benign	Het
Hoxb8	A	T	11: 96,284,460	D241V	probably benign	Het
Hrnr	A	G	3: 93,323,652	Q399R	unknown	Het
Itpk1	A	T	12: 102,606,175	V93D	probably damaging	Het
Kars	C	T	8: 112,002,584	A164T	probably benign	Het
Kcnq4	A	T	4: 120,717,011	I150N	probably damaging	Het
Kcnrg	A	T	14: 61,611,727	L212F	probably damaging	Het
Kif5b	A	T	18: 6,216,759	D521E	probably benign	Het
Klf11	C	T	12: 24,655,072	T158M	probably damaging	Het
Klhl6	T	C	16: 19,957,284	I175V	probably benign	Het
Lsm1	A	G	8: 25,793,680	N40S	probably damaging	Het
Map1b	T	C	13: 99,431,068	E1715G	unknown	Het
Mecom	C	A	3: 30,238,310	A4S	probably benign	Het
Muc5b	G	A	7: 141,842,294	V96M	unknown	Het
Mug2	A	T	6: 122,036,296	I341L	probably benign	Het
Mxra7	A	T	11: 116,816,252		probably null	Het
Myo5a	T	C	9: 75,153,823	L537P	probably damaging	Het
Naa16	T	C	14: 79,345,057	R531G	probably damaging	Het
Neb	T	A	2: 52,244,075	M3299L	probably benign	Het
Nlrp4b	T	A	7: 10,719,203	Y76N	probably benign	Het
Nmral1	T	C	16: 4,716,341	T79A	probably damaging	Het
Noct	C	T	3: 51,247,879	Q23*	probably null	Het
Nrxn1	A	T	17: 90,037,081	V438D	probably damaging	Het
Olfr1034	T	A	2: 86,046,898	C139S	probably damaging	Het
Olfr1463	A	C	19: 13,234,768	N173H	possibly damaging	Het
Oxct2a	T	C	4: 123,323,043	T182A	probably benign	Het
Pank2	T	C	2: 131,274,025	I121T	probably damaging	Het
Pcdh1	T	A	18: 38,203,475	T36S	probably benign	Het
Pfdn1	A	T	18: 36,451,080	M67K	possibly damaging	Het
Plec	T	C	15: 76,174,256	E3849G	probably damaging	Het
Polr3a	A	T	14: 24,464,281	S817T	possibly damaging	Het
Pomgnt1	T	A	4: 116,155,510	D401E	probably damaging	Het
Ppp1r13b	T	A	12: 111,832,558	D891V	probably damaging	Het
Prr14l	A	G	5: 32,844,156		probably benign	Het
Ptk2b	A	G	14: 66,173,300		probably null	Het
Rab13	G	C	3: 90,221,023		probably null	Het
Rexo1	C	T	10: 80,546,421	A751T	probably benign	Het
Rfx1	T	C	8: 84,082,745	V233A	possibly damaging	Het
Rnf149	C	T	1: 39,577,214		probably benign	Het
Rrm1	A	G	7: 102,447,879	D122G	probably benign	Het
Serpina1b	A	G	12: 103,732,380	F70S	probably damaging	Het
Serpinb13	C	T	1: 106,982,844	S66L	probably damaging	Het
Sh3rf3	T	C	10: 58,813,704	S44P	possibly damaging	Het
Shroom1	A	G	11: 53,465,722	T471A	possibly damaging	Het
Slc6a1	A	G	6: 114,302,831	Y152C	probably damaging	Het
Spata6	A	T	4: 111,774,826	T145S	probably damaging	Het
Srcap	G	A	7: 127,538,014	G956D	probably damaging	Het
Ssh2	A	T	11: 77,455,205	I1339F	possibly damaging	Het
Tardbp	A	T	4: 148,612,621	*99K	probably null	Het
Tbc1d22a	A	G	15: 86,311,836	Y336C	probably damaging	Het
Tmcc3	G	A	10: 94,545,557		probably benign	Het
Tmem178b	T	G	6: 40,245,613	D87E	probably benign	Het
Tmem184a	A	C	5: 139,805,622	S380A	probably benign	Het
Tnfaip2	A	G	12: 111,445,248	K84R	possibly damaging	Het
Tpgs1	A	G	10: 79,675,401	T126A	probably benign	Het
Traf3ip1	A	G	1: 91,520,112	E437G	possibly damaging	Het
Trpc4ap	C	T	2: 155,635,133	C755Y	probably damaging	Het
Tsfm	A	G	10: 127,030,678		probably benign	Het
Tulp1	A	C	17: 28,351,837		probably benign	Het
Vmn1r23	A	T	6: 57,926,025	M256K	probably benign	Het
Zdhhc8	T	C	16: 18,226,741	D305G	probably damaging	Het
Zfp326	G	A	5: 105,907,076	R282H	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
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
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'- CACCGATCTAGCAGGCATCAAG -3'
(R):5'- AGGCAGAGGTCCTGTTCTTTC -3'

Sequencing Primer
(F):5'- TCTAGCAGGCATCAAGGTGTGC -3'
(R):5'- GGTTTAAGACCTCCCTGAGTAAAGAC -3'

Posted On

2015-10-21