Mutagenetix > Incidental Mutation

Incidental Mutation 'R6158:Myo7b'

489730

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

044305-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31988549 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 768 (I768V)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000134663
AA Change: I768V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: I768V

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: 99.9%
3x: 99.4%
10x: 97.5%
20x: 92.6%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,170,636	V793A	possibly damaging	Het
2900092C05Rik	A	G	7: 12,512,672	T32A	probably benign	Het
Adprhl1	C	T	8: 13,224,977	V594M	possibly damaging	Het
Ano3	A	T	2: 110,665,875	Y845N	probably damaging	Het
Arhgap24	A	T	5: 102,892,912	I575L	probably benign	Het
Aurka	A	C	2: 172,363,596		probably null	Het
C1qtnf5	A	T	9: 44,108,970		probably benign	Het
Cacnb2	A	G	2: 14,985,601	D454G	possibly damaging	Het
Ccdc58	T	A	16: 36,089,929	V118D	probably damaging	Het
Chchd5	T	C	2: 129,130,517	L87P	probably damaging	Het
Col7a1	G	T	9: 108,964,603	R1377L	unknown	Het
Cpne8	A	C	15: 90,571,988	S191A	probably damaging	Het
Dhx30	A	T	9: 110,087,030	I671N	probably damaging	Het
Dnah12	A	T	14: 26,773,685	K1423N	possibly damaging	Het
Dnm3	T	C	1: 162,320,987	M272V	probably damaging	Het
Fat4	A	T	3: 38,983,262	S3688C	possibly damaging	Het
Frmpd1	A	T	4: 45,285,401	L1407F	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Gm11565	T	A	11: 99,914,918	C45*	probably null	Het
Gngt1	A	T	6: 3,994,311	R30*	probably null	Het
Htt	T	C	5: 34,907,086	I2943T	possibly damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Lmo7	T	A	14: 101,900,137	D247E	probably benign	Het
Mastl	G	T	2: 23,132,772	N646K	possibly damaging	Het
Mei4	G	T	9: 81,927,576	L237F	probably damaging	Het
Mettl27	C	T	5: 134,940,576	P170S	possibly damaging	Het
Mgam	T	A	6: 40,757,714	I896K	probably damaging	Het
Moxd1	T	A	10: 24,284,777	C443S	probably damaging	Het
Myo18b	A	T	5: 112,874,172	N451K	probably benign	Het
Nos1	A	C	5: 117,867,574	I120L	probably benign	Het
Nsd1	T	C	13: 55,245,621	V345A	probably benign	Het
Olfr1095	A	G	2: 86,851,515	L61P	possibly damaging	Het
Olfr1205	T	C	2: 88,831,146	F10L	probably damaging	Het
Olfr150	C	T	9: 39,737,076	T87I	probably benign	Het
Olfr170	C	A	16: 19,605,925	V248F	probably damaging	Het
Olfr344	A	T	2: 36,569,116	T173S	probably benign	Het
Pdzph1	T	G	17: 58,973,627	Q553H	probably damaging	Het
Piwil1	T	A	5: 128,747,876	L546*	probably null	Het
Pla2g4f	T	C	2: 120,301,071	T724A	probably benign	Het
Ralgapa2	A	T	2: 146,424,676	M660K	possibly damaging	Het
Rgsl1	T	C	1: 153,804,021	D103G	possibly damaging	Het
Rnf186	A	G	4: 138,967,254	D35G	probably damaging	Het
Rock2	A	G	12: 16,954,918	D424G	probably benign	Het
Scg2	A	T	1: 79,435,400	D495E	probably damaging	Het
Slc39a2	G	A	14: 51,894,224		probably null	Het
Snrnp48	T	A	13: 38,210,236	Y100*	probably null	Het
Spaca1	A	G	4: 34,029,176	M99T	probably damaging	Het
Specc1	T	G	11: 62,118,124	F235L	probably damaging	Het
St13	A	T	15: 81,399,601		probably null	Het
Swap70	T	A	7: 110,270,023	M341K	probably damaging	Het
Synj2	A	G	17: 5,986,212	D67G	probably benign	Het
Tmem135	T	A	7: 89,156,444	I251F	probably benign	Het
Tmem87a	A	T	2: 120,360,103		probably null	Het
Tom1l2	C	T	11: 60,232,927	D128N	probably damaging	Het
Tpx2	C	A	2: 152,873,104	H82N	probably benign	Het
Trip12	A	T	1: 84,761,012	C738S	possibly damaging	Het
Ttyh1	A	G	7: 4,125,562	T153A	probably benign	Het
Utrn	C	T	10: 12,690,822	G1199S	probably benign	Het
Vmn1r8	T	A	6: 57,036,289	N108K	probably benign	Het
Vmn2r63	T	A	7: 42,933,680	D37V	probably damaging	Het
Vwce	C	T	19: 10,644,221	R206C	possibly damaging	Het
Wrn	G	T	8: 33,319,172	F265L	probably damaging	Het
Zfp472	T	A	17: 32,978,389	C479*	probably null	Het
Zfp831	A	T	2: 174,643,858	T109S	possibly damaging	Het
Znfx1	G	T	2: 167,056,726	Q93K	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
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'- AACATAGGCTGAATGTCCCC -3'
(R):5'- TCTCATAGGAGAGTCTGGGAC -3'

Sequencing Primer
(F):5'- TAGGCTGAATGTCCCCACTAAAG -3'
(R):5'- GACATCCTGACTTTTGGAGACCAAG -3'

Posted On

2017-10-10