Mutagenetix > Incidental Mutations

Incidental Mutation 'R6302:Myo7b'

509318

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6302 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 31994386 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 621 (D621A)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134663
AA Change: D621A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: D621A

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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 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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	G	9: 107,929,573	V365G	probably benign	Het
Adgrg6	T	A	10: 14,441,483	D531V	probably benign	Het
Ankrd11	A	G	8: 122,889,989	S2354P	probably benign	Het
Ano9	A	T	7: 141,104,308	W514R	probably damaging	Het
Arfgef3	A	T	10: 18,652,841	V266E	probably damaging	Het
Bahcc1	T	C	11: 120,276,808	I1345T	probably damaging	Het
BC067074	A	G	13: 113,368,112	D1925G	probably damaging	Het
Bpifb4	G	A	2: 153,959,667	M355I	probably benign	Het
Catsperb	T	C	12: 101,588,143	S699P	possibly damaging	Het
Cdh23	T	G	10: 60,305,093	I3161L	possibly damaging	Het
Chd3	T	C	11: 69,353,778	T1257A	probably damaging	Het
Cnnm4	C	T	1: 36,499,955	T638I	probably benign	Het
Cyp26c1	A	G	19: 37,686,488	T86A	probably damaging	Het
Cyp3a63-ps	A	G	5: 145,628,037		noncoding transcript	Het
Dnah14	T	A	1: 181,601,206	I259N	possibly damaging	Het
Dnah17	T	C	11: 118,129,155	D22G	probably benign	Het
Epn2	T	G	11: 61,546,486	T87P	probably damaging	Het
Fbxl18	A	G	5: 142,888,823	L81P	probably damaging	Het
Gas1	A	T	13: 60,176,156	D221E	probably damaging	Het
Gm436	G	T	4: 144,670,190	S324*	probably null	Het
Gm8356	T	C	14: 6,535,128	Y130C	probably damaging	Het
Gpr151	T	G	18: 42,579,394	K73T	probably damaging	Het
Helq	A	C	5: 100,798,439	V12G	probably damaging	Het
Inpp4b	A	G	8: 81,768,177	T74A	probably benign	Het
Kirrel3	G	A	9: 35,007,749	V234I	probably damaging	Het
Kxd1	T	A	8: 70,520,063		probably null	Het
Lif	T	C	11: 4,268,924	Y68H	probably damaging	Het
Map6	A	G	7: 99,336,107	Q406R	probably damaging	Het
Mcoln3	A	T	3: 146,124,772	M86L	probably benign	Het
Mei1	T	A	15: 82,103,238	Y834*	probably null	Het
Mroh1	T	C	15: 76,436,119		probably null	Het
Myo15b	T	C	11: 115,886,239	I2319T	possibly damaging	Het
Naip5	C	T	13: 100,223,166	A521T	possibly damaging	Het
Nek7	T	C	1: 138,498,613	D254G	probably damaging	Het
Nsd2	A	G	5: 33,867,577	R560G	possibly damaging	Het
Olfr325	T	C	11: 58,581,638	F265L	probably benign	Het
Olfr686	A	T	7: 105,203,719	L208H	probably damaging	Het
Pbx1	T	A	1: 168,191,341	T312S	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Pitrm1	A	G	13: 6,560,061	S390G	probably damaging	Het
Plcxd3	C	T	15: 4,516,757	T81M	probably damaging	Het
Pmf1	C	T	3: 88,399,710		probably null	Het
Rabep1	T	C	11: 70,935,121	V739A	probably damaging	Het
Rex2	A	G	4: 147,057,994	D313G	possibly damaging	Het
Rpia	C	T	6: 70,773,501	V216I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Sec13	T	A	6: 113,735,206	H56L	probably damaging	Het
Sec16a	A	T	2: 26,425,805	V1733D	probably damaging	Het
Sim2	G	A	16: 94,097,230	A108T	probably damaging	Het
Slc27a5	T	C	7: 12,988,552	D665G	probably damaging	Het
Slc38a6	T	A	12: 73,337,075	V180E	probably damaging	Het
Smarcad1	T	G	6: 65,075,138	N38K	possibly damaging	Het
Spem2	T	C	11: 69,818,265	T45A	possibly damaging	Het
Svil	T	C	18: 5,057,432	S714P	probably benign	Het
Taar7b	T	A	10: 24,000,260	S108T	possibly damaging	Het
Tbl3	T	C	17: 24,704,671	K256E	probably benign	Het
Tcam1	T	G	11: 106,286,450	C423G	probably damaging	Het
Trpm4	A	T	7: 45,327,719		probably null	Het
Ttyh2	T	C	11: 114,701,836	C231R	probably damaging	Het
Ugt3a2	C	T	15: 9,365,311	P337S	probably damaging	Het
Vmn2r83	A	C	10: 79,469,003	T16P	possibly damaging	Het
Vps52	T	C	17: 33,963,215	F589S	probably damaging	Het
Xkr4	T	C	1: 3,216,738	T410A	probably damaging	Het
Xkr9	A	G	1: 13,672,502	T4A	probably damaging	Het
Yars2	T	C	16: 16,304,574	L268P	probably damaging	Het
Zbtb41	C	A	1: 139,429,289	N427K	possibly damaging	Het
Zeb2	T	C	2: 44,997,759	T414A	probably benign	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
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
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
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'- ACTCTAGGTGTCAAACTCAGCCC -3'
(R):5'- ATGCAGCATCCCAGCATGTAG -3'

Sequencing Primer
(F):5'- TGTCAAACTCAGCCCCTCGG -3'
(R):5'- CATGTAGCTTGTCCTGGAATGAAG -3'

Posted On

2018-04-02