Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01934:Myo7b'

180587

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 32001341 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000134663]

AlphaFold

Q99MZ6

Predicted Effect

probably null
Transcript: ENSMUST00000134663

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388

Domain	Start	End	E-Value	Type
MYSc	59	761	N/A	SMART
IQ	762	784	1.07e-1	SMART
IQ	785	807	7.01e-6	SMART
IQ	831	853	4.93e-1	SMART
IQ	854	876	1.63e-1	SMART
MyTH4	989	1189	1.14e-71	SMART
B41	1190	1409	3.66e-16	SMART
SH3	1501	1563	3.25e-7	SMART
MyTH4	1641	1790	7.66e-55	SMART
B41	1792	2009	8.19e-28	SMART

Coding Region Coverage

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 is found in brush border microvilli of epithelial cells in the intestines and kidneys. The encoded protein is involved in linking protocadherins to the actin cytoskeleton and is essential for proper microvilli function. This protein aids in the accumulation of intermicrovillar adhesion components such as harmonin and ANKS4B, and this accumulation is necessary for normal brush border action. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,585,655	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 91,055,865	T128S	probably damaging	Het
Aars	T	A	8: 111,048,018	I593N	probably damaging	Het
Abca6	A	T	11: 110,188,655	N1224K	probably benign	Het
Abcc5	A	T	16: 20,422,441		probably benign	Het
Adam7	A	G	14: 68,532,599	L35P	probably damaging	Het
Ahnak	T	A	19: 9,002,657	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,552,531	E620G	possibly damaging	Het
Ap3d1	A	T	10: 80,709,258	L1082*	probably null	Het
Atp6v0a4	T	A	6: 38,051,546	I712F	possibly damaging	Het
Bco1	T	A	8: 117,096,045	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,308,768	S794C	probably damaging	Het
Camk2d	T	C	3: 126,834,655		probably null	Het
Capn15	T	C	17: 25,963,024	T604A	probably damaging	Het
Cd180	A	T	13: 102,702,858	D83V	probably damaging	Het
Ces1a	C	A	8: 93,032,650	R286L	probably damaging	Het
Col6a6	A	G	9: 105,698,659		probably null	Het
Crnkl1	A	G	2: 145,931,282	V148A	probably benign	Het
Epas1	A	T	17: 86,823,729	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,822,606	S148G	probably damaging	Het
Fig4	T	C	10: 41,228,112	T791A	probably benign	Het
Galnt9	A	T	5: 110,602,636	I340F	possibly damaging	Het
Gfap	G	A	11: 102,894,460	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm454	T	C	5: 138,207,162		noncoding transcript	Het
Il24	A	T	1: 130,883,877	L115Q	probably damaging	Het
Ipp	C	A	4: 116,510,655	N28K	probably damaging	Het
Kalrn	A	T	16: 34,198,512		probably null	Het
Klf10	C	T	15: 38,297,284	V171M	probably benign	Het
Man1b1	T	C	2: 25,345,511	S350P	probably benign	Het
Mfsd4a	T	C	1: 132,046,311	Y343C	probably damaging	Het
Mrpl58	C	A	11: 115,410,729		probably benign	Het
Nbas	T	C	12: 13,289,879		probably benign	Het
Nisch	A	G	14: 31,176,739		probably benign	Het
Olfr494	A	G	7: 108,368,161	I224V	probably damaging	Het
Olfr619	T	C	7: 103,603,975	F107S	probably damaging	Het
Olfr97	A	T	17: 37,231,548	V274D	probably damaging	Het
Parva	T	A	7: 112,588,553	C352*	probably null	Het
Ptf1a	T	A	2: 19,446,620	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,236,535	R1062L	probably benign	Het
Rnf44	A	G	13: 54,681,950	V407A	probably damaging	Het
Shank3	T	C	15: 89,549,846	L1598P	probably damaging	Het
Slit2	T	C	5: 48,238,405	S717P	possibly damaging	Het
Svs1	A	T	6: 48,988,761	I568F	probably damaging	Het
Tdpoz4	A	G	3: 93,797,472	K359E	probably damaging	Het
Tmtc4	A	T	14: 122,927,635	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,065,187	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,834,510		probably benign	Het
Tnpo3	A	T	6: 29,575,020	L382M	probably benign	Het
Tut1	T	C	19: 8,953,991	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,914,775	S229P	probably benign	Het
Usp22	T	C	11: 61,155,288	E476G	probably damaging	Het
Vill	G	T	9: 119,066,809	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,893,937	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,740,116	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,319,833		probably null	Het
Zfp236	A	T	18: 82,633,120	V889E	probably damaging	Het
Zscan20	T	C	4: 128,592,484	D141G	possibly damaging	Het

Other mutations in Myo7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Myo7b	APN	18	32021556	utr 5 prime	probably benign
IGL01799:Myo7b	APN	18	31962770	missense	probably damaging	1.00
IGL01881:Myo7b	APN	18	32000267	splice site	probably benign
IGL01883:Myo7b	APN	18	31998151	missense	probably damaging	1.00
IGL01980:Myo7b	APN	18	31961900	missense	possibly damaging	0.86
IGL02506:Myo7b	APN	18	31967154	missense	probably damaging	1.00
IGL02704:Myo7b	APN	18	31966961	missense	probably benign	0.13
IGL02929:Myo7b	APN	18	31994925	missense	probably benign	0.19
IGL03149:Myo7b	APN	18	32014302	missense	probably damaging	1.00
IGL03335:Myo7b	APN	18	31985020	missense	possibly damaging	0.81
IGL03372:Myo7b	APN	18	31998601	missense	probably damaging	1.00
IGL03385:Myo7b	APN	18	31989577	missense	probably benign	0.00
PIT4131001:Myo7b	UTSW	18	31961206	missense	probably benign	0.17
PIT4445001:Myo7b	UTSW	18	31959466	missense	possibly damaging	0.80
PIT4445001:Myo7b	UTSW	18	31962352	missense	probably damaging	0.96
R0034:Myo7b	UTSW	18	31960860	missense	probably damaging	1.00
R0138:Myo7b	UTSW	18	32010151	missense	probably damaging	1.00
R0149:Myo7b	UTSW	18	32014209	missense	probably damaging	1.00
R0226:Myo7b	UTSW	18	31972896	missense	probably benign	0.00
R0312:Myo7b	UTSW	18	32014337	missense	possibly damaging	0.68
R0361:Myo7b	UTSW	18	32014209	missense	probably damaging	1.00
R0506:Myo7b	UTSW	18	31964386	critical splice donor site	probably null
R0524:Myo7b	UTSW	18	32013424	missense	possibly damaging	0.91
R0645:Myo7b	UTSW	18	31994909	missense	probably benign	0.10
R0724:Myo7b	UTSW	18	32005549	splice site	probably benign
R0731:Myo7b	UTSW	18	31961825	splice site	probably null
R0762:Myo7b	UTSW	18	31983944	missense	probably benign	0.01
R0843:Myo7b	UTSW	18	31974084	missense	possibly damaging	0.83
R0894:Myo7b	UTSW	18	32000070	missense	probably damaging	1.00
R0966:Myo7b	UTSW	18	31998763	missense	probably damaging	1.00
R1205:Myo7b	UTSW	18	31994342	missense	probably damaging	1.00
R1387:Myo7b	UTSW	18	31983752	splice site	probably benign
R1523:Myo7b	UTSW	18	31966876	missense	probably damaging	1.00
R1544:Myo7b	UTSW	18	31994909	missense	probably benign	0.10
R1623:Myo7b	UTSW	18	32000051	missense	probably damaging	1.00
R1780:Myo7b	UTSW	18	31961185	missense	probably damaging	1.00
R1785:Myo7b	UTSW	18	31994897	missense	probably benign
R1786:Myo7b	UTSW	18	31994897	missense	probably benign
R1796:Myo7b	UTSW	18	31986675	missense	possibly damaging	0.93
R1907:Myo7b	UTSW	18	31976999	missense	possibly damaging	0.89
R2027:Myo7b	UTSW	18	31984960	missense	probably benign
R2102:Myo7b	UTSW	18	31999978	missense	probably damaging	1.00
R2174:Myo7b	UTSW	18	31983557	missense	probably damaging	1.00
R2272:Myo7b	UTSW	18	31977043	missense	probably benign	0.41
R2323:Myo7b	UTSW	18	31971345	missense	probably damaging	1.00
R2365:Myo7b	UTSW	18	32014331	missense	probably damaging	0.98
R3078:Myo7b	UTSW	18	31967184	missense	probably benign	0.04
R3522:Myo7b	UTSW	18	32010079	missense	probably damaging	1.00
R3788:Myo7b	UTSW	18	31974112	missense	possibly damaging	0.95
R3880:Myo7b	UTSW	18	31969514	missense	probably damaging	0.96
R4334:Myo7b	UTSW	18	31976987	missense	probably damaging	1.00
R4343:Myo7b	UTSW	18	31983627	missense	probably damaging	1.00
R4497:Myo7b	UTSW	18	32014229	missense	probably benign	0.06
R4498:Myo7b	UTSW	18	32014229	missense	probably benign	0.06
R4551:Myo7b	UTSW	18	31985108	missense	probably benign	0.01
R4593:Myo7b	UTSW	18	32013375	missense	possibly damaging	0.77
R4616:Myo7b	UTSW	18	32003487	splice site	probably null
R4646:Myo7b	UTSW	18	31994369	missense	probably benign	0.25
R4648:Myo7b	UTSW	18	31967125	splice site	probably null
R4737:Myo7b	UTSW	18	31998602	missense	probably damaging	1.00
R4765:Myo7b	UTSW	18	31961900	missense	probably benign	0.00
R4790:Myo7b	UTSW	18	32000105	splice site	probably null
R4909:Myo7b	UTSW	18	31964436	missense	probably benign	0.01
R5027:Myo7b	UTSW	18	31975212	missense	probably benign	0.22
R5034:Myo7b	UTSW	18	31971387	missense	probably damaging	1.00
R5112:Myo7b	UTSW	18	31983587	missense	probably damaging	1.00
R5266:Myo7b	UTSW	18	31998734	missense	probably damaging	1.00
R5267:Myo7b	UTSW	18	31998734	missense	probably damaging	1.00
R5348:Myo7b	UTSW	18	31983919	missense	probably damaging	0.96
R5457:Myo7b	UTSW	18	31971450	splice site	probably null
R5540:Myo7b	UTSW	18	32007090	missense	probably damaging	1.00
R5628:Myo7b	UTSW	18	31974187	missense	probably benign
R5815:Myo7b	UTSW	18	31966288	missense	probably damaging	1.00
R6062:Myo7b	UTSW	18	31967990	missense	possibly damaging	0.94
R6137:Myo7b	UTSW	18	31999974	missense	probably damaging	1.00
R6158:Myo7b	UTSW	18	31988549	missense	probably benign	0.00
R6218:Myo7b	UTSW	18	31959454	missense	probably benign	0.10
R6256:Myo7b	UTSW	18	31983695	missense	probably damaging	1.00
R6257:Myo7b	UTSW	18	32013415	missense	probably damaging	1.00
R6265:Myo7b	UTSW	18	31998150	missense	probably damaging	1.00
R6302:Myo7b	UTSW	18	31994386	missense	probably damaging	0.98
R6438:Myo7b	UTSW	18	31966329	missense	probably damaging	1.00
R6654:Myo7b	UTSW	18	31990269	missense	possibly damaging	0.46
R7030:Myo7b	UTSW	18	31971573	missense	probably damaging	1.00
R7090:Myo7b	UTSW	18	31998712	missense	probably damaging	1.00
R7210:Myo7b	UTSW	18	32007102	missense	probably damaging	1.00
R7218:Myo7b	UTSW	18	31981001	missense	probably benign	0.05
R7378:Myo7b	UTSW	18	31966239	missense	probably damaging	1.00
R7458:Myo7b	UTSW	18	31988551	missense	possibly damaging	0.89
R7517:Myo7b	UTSW	18	32013267	missense	probably damaging	0.99
R7559:Myo7b	UTSW	18	31983360	missense	probably benign	0.01
R7667:Myo7b	UTSW	18	31961905	missense	probably benign
R7737:Myo7b	UTSW	18	32014204	nonsense	probably null
R7942:Myo7b	UTSW	18	32013369	missense	probably damaging	0.98
R8030:Myo7b	UTSW	18	31998082	missense	probably damaging	0.96
R8114:Myo7b	UTSW	18	31965624	missense	probably damaging	1.00
R8338:Myo7b	UTSW	18	31971355	missense	probably damaging	0.96
R8341:Myo7b	UTSW	18	31983926	missense	probably benign	0.39
R8406:Myo7b	UTSW	18	31959813	missense	probably damaging	1.00
R8464:Myo7b	UTSW	18	31962704	missense	probably benign	0.00
R8517:Myo7b	UTSW	18	31967191	missense	possibly damaging	0.87
R8537:Myo7b	UTSW	18	31977089	missense	probably benign	0.08
R8546:Myo7b	UTSW	18	31990148	missense	probably benign	0.19
R8721:Myo7b	UTSW	18	32007011	missense	probably damaging	1.00
R8770:Myo7b	UTSW	18	31981071	missense	probably benign	0.03
R8841:Myo7b	UTSW	18	31964437	missense	probably benign	0.06
R8853:Myo7b	UTSW	18	31986691	missense	possibly damaging	0.67
R8960:Myo7b	UTSW	18	31994246	splice site	probably benign
R8984:Myo7b	UTSW	18	31966349	missense	probably null	0.68
R9356:Myo7b	UTSW	18	31977043	missense	probably damaging	1.00
R9357:Myo7b	UTSW	18	31960076	missense	probably damaging	1.00
R9364:Myo7b	UTSW	18	32000360	missense	probably benign	0.12
R9405:Myo7b	UTSW	18	31976303	missense	probably benign	0.00
R9533:Myo7b	UTSW	18	31975244	missense	probably benign	0.27
R9776:Myo7b	UTSW	18	32000015	missense	probably benign	0.45
X0027:Myo7b	UTSW	18	31965636	missense	probably damaging	1.00
Z1176:Myo7b	UTSW	18	31980998	missense	possibly damaging	0.82
Z1177:Myo7b	UTSW	18	31985056	missense	probably damaging	1.00

Posted On

2014-05-07