Mutagenetix > Incidental Mutation

Incidental Mutation 'R1544:Myo7b'

172077

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

039583-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1544 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31994909 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 577 (I577V)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000134663
AA Change: I577V

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: I577V

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

0.2832

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 86.9%

Validation Efficiency

99% (114/115)

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578C19Rik	A	C	X: 18,420,462	L285V	possibly damaging	Het
4931406B18Rik	A	G	7: 43,498,119	I182T	possibly damaging	Het
4933406P04Rik	A	G	10: 20,311,359		probably benign	Het
4933425L06Rik	A	T	13: 105,109,621	H230L	probably benign	Het
A730018C14Rik	A	G	12: 112,415,490		noncoding transcript	Het
Aacs	A	T	5: 125,516,330	I666F	possibly damaging	Het
Abcb9	C	T	5: 124,083,631	V227I	probably benign	Het
Abcd3	T	C	3: 121,784,473	Q168R	probably benign	Het
Adamts4	A	G	1: 171,252,742	Q288R	probably benign	Het
Atad2	G	A	15: 58,103,364	A611V	probably damaging	Het
Aup1	T	C	6: 83,055,206	V118A	possibly damaging	Het
Bend7	T	A	2: 4,763,311		probably benign	Het
Brd4	A	G	17: 32,198,672		probably benign	Het
C4b	C	A	17: 34,738,967	R580L	probably benign	Het
Cct8	G	T	16: 87,491,454		probably benign	Het
Cilp	T	C	9: 65,275,845	Y344H	probably benign	Het
Clic6	A	T	16: 92,492,073		probably benign	Het
Colgalt2	T	C	1: 152,484,952	S247P	probably damaging	Het
Csf2rb	G	T	15: 78,340,755	A212S	probably benign	Het
Csmd3	A	C	15: 47,611,898		probably null	Het
Cyp26c1	A	G	19: 37,690,945	D366G	probably benign	Het
Dhx33	A	G	11: 70,999,528	S222P	probably damaging	Het
Dhx40	T	A	11: 86,806,553	I63F	possibly damaging	Het
Dlgap2	T	A	8: 14,829,861		probably null	Het
Dnah7b	T	A	1: 46,066,797	D20E	unknown	Het
Dnase2b	C	A	3: 146,584,557	A220S	probably benign	Het
Dock10	T	C	1: 80,592,635	E362G	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Epha10	C	A	4: 124,885,596	N78K	probably damaging	Het
Epha3	A	G	16: 63,773,053	V224A	probably damaging	Het
Fam126a	A	T	5: 23,965,141	D403E	probably benign	Het
Fam208b	A	T	13: 3,590,413	H241Q	possibly damaging	Het
Fcgr4	C	A	1: 171,019,954	D40E	probably damaging	Het
Fer1l4	T	C	2: 156,045,633	M548V	probably benign	Het
Flii	C	T	11: 60,719,692		probably null	Het
Flnc	A	T	6: 29,444,080	Y631F	probably benign	Het
Gm13101	T	C	4: 143,966,062	D123G	probably benign	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm4788	A	T	1: 139,736,870	C484S	probably damaging	Het
Gm6871	A	C	7: 41,546,090		probably null	Het
Gtf2ird1	A	T	5: 134,358,918	S1028T	possibly damaging	Het
Hydin	A	G	8: 110,574,854	H3739R	probably benign	Het
Iqcg	A	T	16: 33,045,525	N149K	probably benign	Het
Iqgap3	A	G	3: 88,098,893	D537G	probably benign	Het
Itih2	T	G	2: 10,105,214	D576A	probably benign	Het
Kcmf1	T	C	6: 72,848,229	T243A	probably benign	Het
Kif1a	A	G	1: 93,074,948		probably benign	Het
Klf10	C	T	15: 38,296,786	G337S	probably damaging	Het
Krt31	T	C	11: 100,047,873	N298S	possibly damaging	Het
Lmnb1	A	G	18: 56,749,751	E556G	probably benign	Het
Mael	A	T	1: 166,202,290	S354T	probably benign	Het
Mast3	T	C	8: 70,786,172	D496G	probably damaging	Het
Med12l	A	G	3: 59,265,240	T1806A	possibly damaging	Het
Mms19	A	G	19: 41,955,821		probably null	Het
Moap1	A	T	12: 102,743,245	M15K	possibly damaging	Het
Mpv17l	G	T	16: 13,946,819	W70L	probably damaging	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Myo9b	T	A	8: 71,290,976	L227Q	probably damaging	Het
Myom2	T	C	8: 15,104,059		probably benign	Het
Naip6	C	A	13: 100,316,475	R26L	probably benign	Het
Nbea	T	C	3: 56,058,827	T405A	probably damaging	Het
Nrp2	T	A	1: 62,762,904	I502N	probably damaging	Het
Nufip2	G	A	11: 77,691,907	E216K	possibly damaging	Het
Oaf	A	G	9: 43,222,633	Y264H	probably damaging	Het
Olfr1023	T	C	2: 85,887,271	L157P	probably damaging	Het
Olfr643	A	G	7: 104,059,224	V126A	probably damaging	Het
Olfr815	A	T	10: 129,902,424	C95*	probably null	Het
Pax1	T	C	2: 147,368,401	V352A	probably damaging	Het
Pkd1l2	TGGG	TGG	8: 117,038,235		probably null	Het
Plxna3	G	A	X: 74,340,166		probably null	Het
Pnpla3	T	C	15: 84,181,046	V347A	probably benign	Het
Ppl	T	A	16: 5,102,597	K350*	probably null	Het
Prb1	C	A	6: 132,209,460		probably null	Het
Prb1	T	A	6: 132,209,461		probably null	Het
Ptpn11	G	A	5: 121,137,511	H540Y	probably benign	Het
Ptprz1	C	A	6: 23,000,748	H946N	possibly damaging	Het
Rad51b	A	G	12: 79,302,543	E51G	possibly damaging	Het
Rin2	T	C	2: 145,858,446	V181A	probably damaging	Het
Rnf157	T	A	11: 116,354,362		probably null	Het
Rnf207	A	G	4: 152,313,871		probably benign	Het
Ror1	A	T	4: 100,441,986	K852M	probably damaging	Het
Sbp	T	A	17: 23,945,069	I102K	probably benign	Het
Scaf8	T	C	17: 3,145,154	I33T	probably damaging	Het
Scn5a	C	T	9: 119,486,633	V1670I	probably damaging	Het
Serhl	C	T	15: 83,105,676	T42M	probably damaging	Het
Sin3a	A	G	9: 57,103,997		probably benign	Het
Slc12a2	A	G	18: 57,879,302	S166G	probably benign	Het
Slc15a4	G	A	5: 127,603,768	H396Y	probably benign	Het
Slc2a7	A	T	4: 150,154,686	N123Y	probably damaging	Het
Smpd3	G	A	8: 106,265,567	T118M	possibly damaging	Het
Spns2	A	T	11: 72,456,367	I427N	probably benign	Het
Ssmem1	T	A	6: 30,519,651	S112T	probably damaging	Het
Stard10	A	T	7: 101,344,026	D190V	probably damaging	Het
Stil	A	T	4: 115,023,852	K531M	probably damaging	Het
Strc	T	C	2: 121,372,738		probably null	Het
Svil	T	A	18: 5,046,817	I21N	possibly damaging	Het
Syt11	T	C	3: 88,748,803	M14V	probably benign	Het
Tg	A	T	15: 66,705,232	Q1468L	probably benign	Het
Tjp1	A	G	7: 65,302,921	V1555A	probably benign	Het
Tmprss11d	A	C	5: 86,338,799	S77R	probably damaging	Het
Tsnaxip1	A	G	8: 105,827,751		probably benign	Het
Tyr	C	A	7: 87,492,706	L138F	probably damaging	Het
Ubash3b	A	G	9: 41,016,605	V469A	probably damaging	Het
Ugt8a	T	C	3: 125,915,449	Y4C	probably benign	Het
Vmn1r201	A	T	13: 22,474,798	T61S	probably benign	Het
Vmn1r204	A	G	13: 22,556,295	H32R	probably benign	Het
Vmn1r228	T	A	17: 20,777,023	I78L	probably benign	Het
Wdr90	T	C	17: 25,849,310	D1348G	possibly damaging	Het
Zfp563	T	A	17: 33,105,213	C261S	probably benign	Het
Zfp809	T	A	9: 22,235,099	L28Q	probably damaging	Het
Znrf3	T	A	11: 5,289,066	Q99L	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
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'- AGGACAAGCTACATGCTGGGATGC -3'
(R):5'- AGGCTAGGTCTTTCCGTTGGAAGAG -3'

Sequencing Primer
(F):5'- TCCTAGAGAGCAAAGGGTCTCC -3'
(R):5'- cccaacctctgtgctgtc -3'

Posted On

2014-04-13