Mutagenetix > Incidental Mutation

Incidental Mutation 'R0312:Myo7b'

25328

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

038522-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0312 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32014337 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 51 (E51G)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134663
AA Change: E51G

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: E51G

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

0.0801

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 90.3%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	T	10: 82,284,369	I4269N	probably damaging	Het
Abcb5	G	T	12: 118,872,837	A1113D	probably damaging	Het
Adcy1	G	T	11: 7,149,538	A673S	probably benign	Het
Apob	T	A	12: 8,009,034	H2505Q	probably benign	Het
Arhgap12	A	G	18: 6,061,982		probably benign	Het
Bcl9	C	T	3: 97,209,411	E656K	probably benign	Het
Bnc1	C	T	7: 81,977,324	R106H	possibly damaging	Het
Ccdc54	T	C	16: 50,590,802	K34E	possibly damaging	Het
Cfap65	G	A	1: 74,904,067	R1600W	probably damaging	Het
Csmd1	A	T	8: 15,984,760	N2470K	probably damaging	Het
Cspp1	T	C	1: 10,058,829		probably benign	Het
Dgkz	A	T	2: 91,938,339	I699N	probably damaging	Het
Dhx40	G	A	11: 86,771,949	T639I	probably damaging	Het
Dlg1	A	G	16: 31,790,267	T227A	probably benign	Het
Dnah10	G	A	5: 124,796,369		probably benign	Het
Dnah3	T	A	7: 120,045,659	K1133M	probably damaging	Het
Dock5	G	C	14: 67,795,991	F976L	possibly damaging	Het
Evc	C	T	5: 37,328,541	C97Y	possibly damaging	Het
Fbxw7	T	C	3: 84,967,569		probably benign	Het
Fggy	A	C	4: 95,844,185	D112A	probably damaging	Het
Fpgs	A	G	2: 32,684,801	Y435H	probably damaging	Het
Fryl	T	A	5: 73,072,888	H1642L	probably damaging	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gda	T	A	19: 21,417,005	I237F	probably damaging	Het
Glt1d1	A	G	5: 127,691,070	N247S	probably damaging	Het
Gm7647	T	C	5: 94,962,980	S7P	probably benign	Het
Gpr31b	C	T	17: 13,051,611	V224I	probably damaging	Het
Hlf	G	A	11: 90,387,875	P121L	possibly damaging	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ism1	G	T	2: 139,678,672	M1I	probably null	Het
Kansl1l	T	C	1: 66,778,106	N365S	probably null	Het
Lama1	T	C	17: 67,775,851	L1368P	possibly damaging	Het
Lima1	A	G	15: 99,781,087	V491A	possibly damaging	Het
Lrch1	G	T	14: 74,947,594	H23N	possibly damaging	Het
Lrp1b	A	G	2: 41,282,171	V1488A	probably damaging	Het
Lrp8	T	C	4: 107,806,855		probably benign	Het
Lrrc8e	A	G	8: 4,235,733	S653G	probably benign	Het
Mnat1	A	G	12: 73,181,784	T141A	possibly damaging	Het
Mpeg1	C	A	19: 12,462,403	N408K	probably damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naa35	A	G	13: 59,609,581	T257A	probably benign	Het
Obox5	T	A	7: 15,757,560	H8Q	probably damaging	Het
Olfr196	A	T	16: 59,167,839	F101L	probably benign	Het
Olfr350	A	T	2: 36,850,360	I105L	probably benign	Het
Olfr638	T	C	7: 104,004,025	V250A	probably damaging	Het
Phldb2	G	T	16: 45,789,047	T732N	probably damaging	Het
Phyhip	G	T	14: 70,466,970	A210S	possibly damaging	Het
Pik3r4	A	G	9: 105,686,210	D1262G	probably damaging	Het
Pip	G	A	6: 41,849,864	E48K	possibly damaging	Het
Plk4	C	T	3: 40,813,547	L74F	probably damaging	Het
Prdm14	G	A	1: 13,118,807	R438W	probably damaging	Het
Rab19	G	A	6: 39,384,089	R57H	probably benign	Het
Rtl1	G	T	12: 109,590,227	P1726Q	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Skint6	A	T	4: 112,809,100	V1176D	possibly damaging	Het
Slc12a1	A	G	2: 125,226,028	I1012V	probably damaging	Het
Slc1a3	C	T	15: 8,636,237	M509I	probably benign	Het
Spata18	G	A	5: 73,666,881	G35E	probably benign	Het
Sspo	C	T	6: 48,455,401	P801L	possibly damaging	Het
Ugt2b37	C	T	5: 87,250,665	G304D	probably damaging	Het
Vmn2r25	A	T	6: 123,828,580		probably benign	Het
Xrcc6	C	A	15: 82,027,222		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ACTGAACCACCTCACTGAGTGACG -3'
(R):5'- CCTTAGACAGATGGCGACCAAAGC -3'

Sequencing Primer
(F):5'- CACCTCACTGAGTGACGATAAGG -3'
(R):5'- TGGCGACCAAAGCCATAG -3'

Posted On

2013-04-16