Mutagenetix > Incidental Mutation

Incidental Mutation 'R1387:Myo7b'

162464

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

039449-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 31983752 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 benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.4%

Validation Efficiency

99% (82/83)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	T	A	9: 98,186,759		noncoding transcript	Het
4930447C04Rik	C	A	12: 72,915,434	R52L	probably benign	Het
9930021J03Rik	A	G	19: 29,723,453	I812T	probably benign	Het
Abca13	C	T	11: 9,682,085	Q5002*	probably null	Het
Acacb	T	C	5: 114,200,512	I761T	probably benign	Het
Acap3	G	T	4: 155,899,480	L134F	probably benign	Het
Adamtsl1	T	C	4: 86,374,993		probably benign	Het
Adgrv1	A	G	13: 81,493,176	V3278A	possibly damaging	Het
Agxt2	T	C	15: 10,380,610	Y196H	probably damaging	Het
Akap13	T	C	7: 75,586,193	V172A	probably damaging	Het
Aqp8	A	G	7: 123,466,668	I229V	probably benign	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Cacng8	T	C	7: 3,415,156	S275P	possibly damaging	Het
Catsperg1	T	C	7: 29,206,864	Y138C	probably damaging	Het
Ccdc93	T	G	1: 121,491,189	L491R	probably damaging	Het
Cntnap2	T	C	6: 47,107,914	V1103A	probably benign	Het
Col12a1	C	T	9: 79,681,375		probably benign	Het
Col6a3	A	G	1: 90,822,416		probably benign	Het
Csf2rb2	C	T	15: 78,298,214	A6T	probably damaging	Het
Cyp2j5	T	A	4: 96,634,285	S351C	probably damaging	Het
Cyth1	A	G	11: 118,182,346		probably benign	Het
Dock2	A	G	11: 34,273,309		probably benign	Het
Duoxa1	T	A	2: 122,303,987	I262F	possibly damaging	Het
Dync2h1	T	C	9: 7,125,816	D1930G	probably benign	Het
Elmsan1	C	A	12: 84,152,931	R1005L	probably damaging	Het
Eno1	C	T	4: 150,248,133		probably benign	Het
Fam102a	T	C	2: 32,565,623	S254P	possibly damaging	Het
Fam98a	T	A	17: 75,538,269	H494L	unknown	Het
Fcamr	C	A	1: 130,804,642	T122K	possibly damaging	Het
Foxq1	A	G	13: 31,559,305	D130G	probably damaging	Het
Glb1	T	A	9: 114,420,363	W5R	probably damaging	Het
Gm17661	GA	GAA	2: 90,917,709		noncoding transcript	Het
Gm5431	T	A	11: 48,895,015	R178W	possibly damaging	Het
Gys2	C	T	6: 142,461,283	V116M	probably benign	Het
Hif1a	C	T	12: 73,942,292	T651I	possibly damaging	Het
Itgb5	T	A	16: 33,900,515	Y3*	probably null	Het
Kank3	A	G	17: 33,816,231	N7S	possibly damaging	Het
Kdm2b	G	T	5: 122,880,268	H981Q	probably damaging	Het
Kdm6a	C	T	X: 18,253,996		probably benign	Het
Kif1a	A	T	1: 93,055,950		probably benign	Het
Knl1	T	A	2: 119,070,730	S971T	possibly damaging	Het
Lcn6	T	C	2: 25,677,137	V50A	possibly damaging	Het
Llgl2	G	T	11: 115,853,132	V762F	probably damaging	Het
Lpcat4	T	C	2: 112,244,676	F342L	probably benign	Het
Lrp2	C	A	2: 69,456,918	G3725V	probably damaging	Het
Map1b	T	C	13: 99,432,650	T1188A	unknown	Het
Mecp2	G	A	X: 74,035,788	P362S	possibly damaging	Het
Mmp13	T	A	9: 7,282,033	F445Y	possibly damaging	Het
Myo5b	G	T	18: 74,644,201		probably benign	Het
Nadk2	C	A	15: 9,106,782	L384I	possibly damaging	Het
Napg	A	G	18: 62,986,212	I98V	possibly damaging	Het
Ncoa1	G	T	12: 4,274,790	N1041K	probably benign	Het
Nmu	A	T	5: 76,350,145	C64*	probably null	Het
Nobox	T	A	6: 43,307,198	K13M	probably damaging	Het
Nos1	T	C	5: 117,953,783		probably benign	Het
Nrg2	A	G	18: 36,196,739	V141A	probably damaging	Het
Olfr170	T	C	16: 19,606,027	I214V	probably damaging	Het
Olfr362	T	G	2: 37,104,868	I261L	probably benign	Het
Olfr544	T	A	7: 102,484,704	I139L	probably benign	Het
Phldb2	C	T	16: 45,825,994	E71K	possibly damaging	Het
Pik3r4	T	A	9: 105,644,291	Y19N	probably damaging	Het
Pkhd1	A	C	1: 20,555,223		probably benign	Het
Pogk	G	T	1: 166,400,138	P148Q	possibly damaging	Het
Pten	G	T	19: 32,798,096	A79S	probably benign	Het
Ptpdc1	A	T	13: 48,586,320	V545E	possibly damaging	Het
Qdpr	G	C	5: 45,450,138		probably benign	Het
Rhbdd3	T	A	11: 5,104,121	H83Q	probably damaging	Het
Rnf6	A	G	5: 146,211,245	V321A	probably benign	Het
Rtf1	T	A	2: 119,705,645		probably null	Het
Serpina10	C	T	12: 103,628,241	V240I	probably benign	Het
Siah2	A	G	3: 58,691,514	V101A	possibly damaging	Het
Taok3	A	G	5: 117,206,655	K46R	probably damaging	Het
Tcaf2	A	C	6: 42,624,578	L849R	probably damaging	Het
Upf3a	T	C	8: 13,792,118	F178S	probably damaging	Het
Vmn1r218	G	A	13: 23,137,308	G195D	probably damaging	Het
Vmn2r59	A	G	7: 42,046,097	V297A	probably damaging	Het
Vmn2r70	T	A	7: 85,558,761	Q836L	probably benign	Het
Zfp473	A	G	7: 44,732,941	V655A	probably benign	Het
Zic5	A	G	14: 122,459,485	S573P	unknown	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
IGL01934:Myo7b	APN	18	32001341	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ACATCTAGAGCAGCCTGGGGAATG -3'
(R):5'- TGACACTGTCACTGACACAGCG -3'

Sequencing Primer
(F):5'- ATTTTCTCTGAACAATGGGTCG -3'
(R):5'- CTGACACAGCGATGGTGG -3'

Posted On

2014-03-17