Mutagenetix > Incidental Mutation

Incidental Mutation 'R1907:Myo7b'

214520

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

039926-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31976999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1137 (C1137S)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134663
AA Change: C1137S

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: C1137S

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

0.2537

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

98% (104/106)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	A	3: 122,069,012	S206R	probably damaging	Het
Abcc6	G	T	7: 46,014,169	A357E	probably benign	Het
Abhd13	T	A	8: 9,988,170	C256S	probably benign	Het
Actrt3	A	G	3: 30,598,567	V126A	probably damaging	Het
Adgrv1	A	G	13: 81,592,551		probably benign	Het
Alyref2	A	G	1: 171,504,270	D205G	probably damaging	Het
Amigo3	G	A	9: 108,053,636	R86Q	probably benign	Het
Ankrd50	G	C	3: 38,454,052	P1389A	probably damaging	Het
Aoah	A	G	13: 20,910,094	D183G	probably damaging	Het
Arap3	A	T	18: 37,996,671	S146T	probably benign	Het
Atp2c2	T	C	8: 119,749,876		probably benign	Het
Atp8b2	C	T	3: 89,946,276	V682M	probably benign	Het
Cacna1i	T	C	15: 80,375,264	I1245T	probably damaging	Het
Card14	A	G	11: 119,331,259	N460S	probably benign	Het
Ceacam5	A	G	7: 17,752,384	D602G	possibly damaging	Het
Cecr2	T	A	6: 120,761,160	H921Q	probably benign	Het
Cyb5d1	T	C	11: 69,394,740	D115G	probably benign	Het
Dbp	C	T	7: 45,708,320	T67I	possibly damaging	Het
Dennd5b	C	T	6: 149,041,576	V601I	probably benign	Het
Dnah11	G	A	12: 118,127,556	A947V	possibly damaging	Het
Dpysl3	T	A	18: 43,438,128	D27V	probably damaging	Het
Drd1	A	T	13: 54,053,252	D307E	possibly damaging	Het
Dscaml1	G	A	9: 45,740,480	G277D	probably damaging	Het
Eif4g3	C	T	4: 138,158,415	R842W	probably damaging	Het
Enam	C	T	5: 88,504,622	T1330I	possibly damaging	Het
Fabp6	T	C	11: 43,596,167		probably null	Het
Fam160a1	T	C	3: 85,672,633	D755G	probably benign	Het
Fsip2	C	T	2: 82,983,428	P3364S	possibly damaging	Het
Fuk	A	T	8: 110,893,378	L289*	probably null	Het
Gad1	C	T	2: 70,579,138	S191F	possibly damaging	Het
Gcm1	A	C	9: 78,064,773	N332T	probably benign	Het
Gin1	G	A	1: 97,775,447		probably benign	Het
Gpr25	T	C	1: 136,260,800	D25G	probably benign	Het
Gstm4	T	C	3: 108,041,277	T172A	probably benign	Het
Hnrnpll	A	G	17: 80,035,329		probably null	Het
Il12rb2	T	A	6: 67,295,286	K339*	probably null	Het
Inpp1	A	G	1: 52,789,670	*397Q	probably null	Het
Kcp	G	T	6: 29,497,835		probably benign	Het
Kdm1b	G	A	13: 47,064,120	V352I	probably benign	Het
Klhdc2	G	T	12: 69,296,960		probably benign	Het
Krt75	T	A	15: 101,573,366	T156S	possibly damaging	Het
Lag3	T	A	6: 124,909,487	I168F	possibly damaging	Het
Lama4	T	G	10: 39,072,758	V839G	probably benign	Het
Lmtk2	G	T	5: 144,175,110	V883L	probably benign	Het
Lrrc37a	C	A	11: 103,457,156	K2904N	unknown	Het
Macf1	A	T	4: 123,372,399	I4775N	probably damaging	Het
Map2k3	T	G	11: 60,932,229	S3A	possibly damaging	Het
Mast1	G	A	8: 84,916,266	R967C	probably damaging	Het
Mettl2	T	G	11: 105,126,840	S59A	probably benign	Het
Mtr	G	A	13: 12,225,532	T530I	probably damaging	Het
Nacad	T	A	11: 6,602,540	H217L	probably benign	Het
Ncstn	A	T	1: 172,072,143	V324E	probably damaging	Het
Ndufaf7	C	A	17: 78,942,117	H148N	possibly damaging	Het
Olfr1048	T	C	2: 86,236,110	K242E	possibly damaging	Het
Olfr517	T	A	7: 108,868,498	I219F	possibly damaging	Het
Olfr628	T	A	7: 103,731,983	I19N	probably damaging	Het
Olfr667	G	A	7: 104,917,065	T77I	probably damaging	Het
Olfr834	T	C	9: 18,988,441	I151T	possibly damaging	Het
Olfr874	T	G	9: 37,746,433	L100V	probably benign	Het
Pcdh20	T	C	14: 88,468,704	I387V	probably benign	Het
Pclo	A	G	5: 14,678,511		probably benign	Het
Pcp2	G	A	8: 3,624,904		probably benign	Het
Pde1a	T	A	2: 79,868,307	D393V	probably damaging	Het
Pias4	T	C	10: 81,154,363	D421G	possibly damaging	Het
Pign	T	C	1: 105,638,215	T362A	possibly damaging	Het
Pik3c2g	A	C	6: 139,844,042	K304Q	probably damaging	Het
Pkd2	T	A	5: 104,486,806	W568R	probably damaging	Het
Pld2	T	A	11: 70,544,184	I306N	probably damaging	Het
Plppr3	T	C	10: 79,874,069	K9R	probably damaging	Het
Pramef6	T	A	4: 143,895,491	R431S	possibly damaging	Het
Psme4	T	C	11: 30,810,922	V397A	probably damaging	Het
Ptbp2	A	T	3: 119,761,749	S23R	probably damaging	Het
Ptpn13	A	G	5: 103,580,709	D2074G	probably null	Het
Rab34	T	A	11: 78,191,255	L166H	probably damaging	Het
Rabgap1l	T	A	1: 160,645,310	R519S	probably benign	Het
Rasa1	A	T	13: 85,226,572	L218*	probably null	Het
Reln	A	G	5: 22,044,962		probably null	Het
Rer1	T	C	4: 155,078,499	D94G	possibly damaging	Het
Rhpn1	T	C	15: 75,711,824	V386A	probably benign	Het
Samd3	T	A	10: 26,271,856	C476*	probably null	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sipa1l3	A	G	7: 29,339,167	S352P	possibly damaging	Het
Slc27a2	A	G	2: 126,586,342	Y549C	probably benign	Het
Slc7a9	A	G	7: 35,449,854	T7A	probably benign	Het
Slco4c1	C	T	1: 96,842,499	G280D	probably damaging	Het
Snx19	T	A	9: 30,433,576	V657E	probably damaging	Het
Spata31d1c	A	G	13: 65,035,876	M411V	probably benign	Het
Spice1	T	A	16: 44,357,830	L72*	probably null	Het
Stard9	G	T	2: 120,713,812	V4471L	probably damaging	Het
Syt14	A	G	1: 192,901,835	L707P	probably damaging	Het
Tab1	T	C	15: 80,153,668	I234T	probably damaging	Het
Tas2r107	T	C	6: 131,659,988	M33V	probably benign	Het
Tbx4	T	A	11: 85,914,523	S479R	possibly damaging	Het
Tssk5	C	T	15: 76,372,893	R263Q	probably benign	Het
Ttn	T	C	2: 76,870,856		probably benign	Het
Ugt2b5	T	A	5: 87,139,630	Q226L	probably benign	Het
Ush2a	C	T	1: 188,715,064	S2483L	probably benign	Het
Wdr95	A	G	5: 149,552,426	Y63C	probably damaging	Het
Xirp2	A	G	2: 67,516,356	I2980M	probably damaging	Het
Yeats4	G	A	10: 117,215,731	T207I	probably benign	Het
Ythdc1	A	G	5: 86,830,630	R561G	probably damaging	Het
Zbtb14	G	A	17: 69,387,390	E28K	possibly damaging	Het
Zfp931	A	T	2: 178,069,891	L21Q	probably damaging	Het
Zyg11b	A	C	4: 108,255,226	M415R	probably 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
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
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'- AAGTAGAGCATCCTTTCAGATGGG -3'
(R):5'- AGATGGACACCAGAGCTCTG -3'

Sequencing Primer
(F):5'- GCATCCTTTCAGATGGGAAAATTGAG -3'
(R):5'- CAGAGCTCTGGGAAGACACC -3'

Posted On

2014-07-14