Mutagenetix > Incidental Mutation

Incidental Mutation 'R4909:Myo7b'

379336

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

042511-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4909 (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 31964436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1792 (N1792K)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000134663
AA Change: N1792K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: N1792K

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: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (101/104)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	A	T	12: 20,815,088		noncoding transcript	Het
A830010M20Rik	C	T	5: 107,507,310	Q992*	probably null	Het
Aars	G	A	8: 111,055,083	G929D	probably damaging	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Actn4	A	T	7: 28,898,657	L506Q	probably damaging	Het
Adam26a	A	T	8: 43,570,438	F5Y	probably benign	Het
Adamts5	G	A	16: 85,900,066	Q68*	probably null	Het
Adcy9	A	G	16: 4,298,754	I871T	probably benign	Het
Ak5	A	T	3: 152,655,877	L136H	probably damaging	Het
Ap1g2	A	G	14: 55,105,026		probably null	Het
Ap2a1	G	A	7: 44,906,381	T355M	probably damaging	Het
Ap3s2	T	C	7: 79,915,241	D60G	possibly damaging	Het
Apold1	G	A	6: 134,983,595	R4Q	probably benign	Het
Atp13a5	G	T	16: 29,334,028	Q207K	possibly damaging	Het
BC035947	A	C	1: 78,498,029	I622S	probably damaging	Het
Bmper	G	T	9: 23,377,725	V339F	probably benign	Het
C1ra	A	G	6: 124,522,334	D493G	probably damaging	Het
C3	C	T	17: 57,226,830		probably null	Het
Cabp4	T	A	19: 4,137,121	I209F	possibly damaging	Het
Cacna1s	A	T	1: 136,079,604	H453L	probably damaging	Het
Camk2g	A	G	14: 20,792,584	V32A	probably benign	Het
Ccdc175	G	A	12: 72,159,753	R240C	probably damaging	Het
Cdk13	C	T	13: 17,772,403	S590N	possibly damaging	Het
Cfap45	A	T	1: 172,529,876	T24S	probably benign	Het
Clca1	T	G	3: 145,024,563	K174Q	probably damaging	Het
Col1a2	G	A	6: 4,529,058		probably benign	Het
Colgalt1	A	T	8: 71,620,633	I323F	possibly damaging	Het
Cpeb3	T	C	19: 37,174,233	S248G	possibly damaging	Het
Cpeb3	A	T	19: 37,174,659	S106T	probably damaging	Het
Ctcfl	C	T	2: 173,095,398	A576T	probably benign	Het
Cyp4f16	T	G	17: 32,550,321	V395G	possibly damaging	Het
Dchs1	C	T	7: 105,766,255	G605S	probably damaging	Het
Egflam	A	T	15: 7,219,629	F903I	probably damaging	Het
Eif5a	G	A	11: 69,917,485	A62V	possibly damaging	Het
Fam217a	A	G	13: 34,910,406	S609P	probably damaging	Het
Fhad1	T	A	4: 141,985,511	I206F	probably benign	Het
Flt1	C	A	5: 147,683,939	A132S	probably benign	Het
Fras1	T	A	5: 96,708,758	M2000K	probably benign	Het
Frmd5	C	T	2: 121,591,653		probably null	Het
Gle1	T	C	2: 29,936,080	L57P	probably benign	Het
Glrx3	C	A	7: 137,445,036	N52K	probably damaging	Het
Grin3b	A	G	10: 79,977,104	*1004W	probably null	Het
Hectd4	T	A	5: 121,263,891	F347L	probably benign	Het
Htra1	G	A	7: 130,985,072	V462I	probably benign	Het
Itga11	A	G	9: 62,755,299	Y518C	probably damaging	Het
Krtap15	T	C	16: 88,829,365	F88L	probably benign	Het
Ktn1	A	T	14: 47,706,460	R866W	probably damaging	Het
Lamb1	G	A	12: 31,288,281	R483H	probably damaging	Het
Megf6	C	T	4: 154,265,391	R983C	probably damaging	Het
Mybpc3	T	A	2: 91,134,812	D1075E	probably benign	Het
Nabp2	A	T	10: 128,401,687		probably benign	Het
Neil3	A	G	8: 53,638,893	C7R	probably damaging	Het
Nxpe2	T	A	9: 48,319,597	I491F	possibly damaging	Het
Obscn	A	G	11: 59,061,465	V4292A	possibly damaging	Het
Ogfod3	A	G	11: 121,197,492	S139P	probably damaging	Het
Olfr374	A	G	8: 72,109,581	N5S	probably damaging	Het
Olfr418	A	T	1: 173,270,979	D268V	probably damaging	Het
Olfr682-ps1	C	A	7: 105,128,228	V70L	probably benign	Het
Olfr800	A	G	10: 129,660,720	I305V	probably benign	Het
Oog2	T	C	4: 144,195,099	I211T	possibly damaging	Het
Oosp1	T	C	19: 11,688,716	D70G	probably benign	Het
Padi3	T	C	4: 140,795,626	D345G	probably damaging	Het
Pcyt2	A	G	11: 120,615,420	F71L	probably benign	Het
Pi4k2b	T	C	5: 52,754,629		probably benign	Het
Pigr	A	C	1: 130,848,458	T577P	possibly damaging	Het
Pirb	G	A	7: 3,719,362	Q161*	probably null	Het
Pnlip	A	G	19: 58,676,240	E204G	possibly damaging	Het
Pop7	G	T	5: 137,501,899	D57E	probably benign	Het
Ppfia4	A	T	1: 134,332,501	I8N	probably damaging	Het
Pprc1	A	G	19: 46,064,319	T759A	probably damaging	Het
Prom1	T	C	5: 44,045,552	N213S	probably benign	Het
Prop1	GCTTCACT	GCTTCACTTCACT	11: 50,952,036		probably null	Het
Prop1	A	T	11: 50,952,045	L105H	probably damaging	Het
Pwp2	A	T	10: 78,182,494	M121K	possibly damaging	Het
Rap1gds1	A	T	3: 138,983,748	M161K	possibly damaging	Het
Rps6kb2	T	A	19: 4,157,003		probably benign	Het
Rxfp1	A	G	3: 79,644,802	S731P	probably benign	Het
Scfd1	T	C	12: 51,390,412	V137A	probably benign	Het
Slc6a15	G	A	10: 103,404,414	D333N	probably damaging	Het
Sqor	T	C	2: 122,785,181	V74A	possibly damaging	Het
Stil	T	A	4: 115,024,225	Y655*	probably null	Het
Syt14	A	T	1: 192,898,859	I468K	probably damaging	Het
Tbc1d31	T	C	15: 57,962,265		probably null	Het
Tspyl5	A	T	15: 33,686,849	S317T	probably damaging	Het
Ttf1	C	T	2: 29,064,656	H11Y	possibly damaging	Het
Ttf2	T	C	3: 100,954,315	T620A	probably damaging	Het
Usp32	G	A	11: 85,055,772	Q269*	probably null	Het
Vsig10	T	A	5: 117,338,243	V254E	probably benign	Het
Wdr6	C	T	9: 108,572,988	A1114T	probably benign	Het
Zfp280d	A	G	9: 72,331,432	S63G	probably damaging	Het
Zfp607b	A	G	7: 27,703,796	D559G	probably benign	Het
Zfp934	T	C	13: 62,517,954	H291R	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
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
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'- TTAACTTGGTGCAGCGCTC -3'
(R):5'- TAGTGCTCCCCTATTGAAGGC -3'

Sequencing Primer
(F):5'- CCCTGACACTGGCTTGTAG -3'
(R):5'- AAGGCTTTGTGTCCAGCATCAAG -3'

Posted On

2016-04-15