Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Myo7b'

33969

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

038471-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0226 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31972896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1353 (V1353I)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000134663
AA Change: V1353I

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

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: V1353I

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,142,120 (GRCm38)	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,303,425 (GRCm38)	E876V	possibly damaging	Het
Aasdh	A	T	5: 76,902,002 (GRCm38)	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,957,018 (GRCm38)		probably null	Het
Ablim1	A	T	19: 57,043,870 (GRCm38)	L556Q	probably damaging	Het
Afdn	A	G	17: 13,899,146 (GRCm38)	T1700A	probably benign	Het
Agl	G	A	3: 116,752,071 (GRCm38)	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,278,029 (GRCm38)	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,670,270 (GRCm38)	C180*	probably null	Het
Aim2	A	G	1: 173,462,333 (GRCm38)		probably benign	Het
Angpt1	T	C	15: 42,468,235 (GRCm38)	N320S	probably benign	Het
Ankrd52	T	A	10: 128,389,858 (GRCm38)		probably null	Het
Ap1g1	C	T	8: 109,855,062 (GRCm38)	S654L	probably benign	Het
Bpifa1	T	A	2: 154,146,057 (GRCm38)	S173R	probably benign	Het
Brd8	T	C	18: 34,603,894 (GRCm38)		probably benign	Het
Btbd9	C	T	17: 30,274,942 (GRCm38)	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,490,843 (GRCm38)	T161A	probably benign	Het
Car6	T	C	4: 150,187,508 (GRCm38)	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,400,217 (GRCm38)	L273P	probably damaging	Het
Cit	G	A	5: 115,984,840 (GRCm38)	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,349,276 (GRCm38)	L48P	probably damaging	Het
Cttn	A	G	7: 144,441,852 (GRCm38)		probably benign	Het
Cyp4f18	T	C	8: 71,989,775 (GRCm38)		probably benign	Het
Dtnbp1	A	G	13: 44,923,193 (GRCm38)	L175P	probably damaging	Het
Efl1	T	C	7: 82,693,011 (GRCm38)		probably benign	Het
Fbn1	C	T	2: 125,320,910 (GRCm38)	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,801,061 (GRCm38)	S665T	probably benign	Het
Gm884	A	T	11: 103,603,241 (GRCm38)	F663L	probably benign	Het
Gm9843	A	T	16: 76,403,561 (GRCm38)		noncoding transcript	Het
Gpr155	C	T	2: 73,367,592 (GRCm38)	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076 (GRCm38)		probably benign	Het
Hdgfl1	A	T	13: 26,769,996 (GRCm38)	H31Q	probably benign	Het
Heatr1	T	C	13: 12,410,562 (GRCm38)	S628P	probably damaging	Het
Hivep2	A	G	10: 14,129,712 (GRCm38)	T685A	probably benign	Het
Hmgcl	T	G	4: 135,958,728 (GRCm38)	V168G	probably damaging	Het
Itch	T	C	2: 155,199,394 (GRCm38)	I454T	probably benign	Het
Itih2	T	C	2: 10,115,299 (GRCm38)	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,842,952 (GRCm38)	I304V	probably benign	Het
Kcnh1	G	A	1: 192,276,804 (GRCm38)	W222*	probably null	Het
Kcnh1	G	T	1: 192,276,805 (GRCm38)	W222C	probably damaging	Het
Kif24	T	A	4: 41,414,939 (GRCm38)	K287*	probably null	Het
Lrig3	A	G	10: 125,972,117 (GRCm38)		probably benign	Het
Lrp2	A	T	2: 69,537,563 (GRCm38)	C202S	probably null	Het
Lrrn2	A	G	1: 132,937,820 (GRCm38)	N208D	probably damaging	Het
Mcm5	C	T	8: 75,126,252 (GRCm38)	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,634,446 (GRCm38)	L365S	probably benign	Het
Mfsd6	A	G	1: 52,658,690 (GRCm38)		probably benign	Het
Mgat4e	A	G	1: 134,541,103 (GRCm38)	V401A	probably benign	Het
Mllt3	C	A	4: 87,840,732 (GRCm38)	V360L	probably benign	Het
Mrm1	G	A	11: 84,819,170 (GRCm38)	A68V	possibly damaging	Het
Myo19	A	G	11: 84,897,732 (GRCm38)		probably benign	Het
Myo3b	A	G	2: 70,217,166 (GRCm38)	T311A	probably benign	Het
Myo5b	T	C	18: 74,742,180 (GRCm38)	F1552L	probably benign	Het
Myo9b	T	C	8: 71,353,832 (GRCm38)	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,176,134 (GRCm38)	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,353,008 (GRCm38)	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,448,201 (GRCm38)	S703P	probably damaging	Het
Pclo	T	C	5: 14,765,223 (GRCm38)	I1231T	probably damaging	Het
Pex16	A	C	2: 92,375,687 (GRCm38)		probably benign	Het
Pfkl	T	C	10: 77,992,534 (GRCm38)	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,526,784 (GRCm38)	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,456,696 (GRCm38)	T106S	probably benign	Het
Prrc1	A	G	18: 57,363,291 (GRCm38)	M105V	probably benign	Het
Psg26	A	G	7: 18,483,958 (GRCm38)	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,731,437 (GRCm38)	S455C	probably damaging	Het
Ryr2	T	C	13: 11,772,556 (GRCm38)	K977R	probably damaging	Het
Sart1	C	T	19: 5,381,122 (GRCm38)		probably benign	Het
Sec14l5	A	G	16: 5,180,303 (GRCm38)	S509G	probably benign	Het
Sin3b	A	T	8: 72,744,508 (GRCm38)	E361V	probably benign	Het
Slc35e3	C	T	10: 117,740,890 (GRCm38)	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,001,583 (GRCm38)	S388P	probably damaging	Het
Srms	A	G	2: 181,212,382 (GRCm38)	S131P	probably benign	Het
Stxbp5	T	C	10: 9,866,698 (GRCm38)		probably benign	Het
Taar2	G	A	10: 23,941,495 (GRCm38)	R311H	probably benign	Het
Taar2	T	C	10: 23,941,063 (GRCm38)	V167A	probably damaging	Het
Thsd7a	A	G	6: 12,321,900 (GRCm38)	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,714,169 (GRCm38)		probably benign	Het
Tmem173	A	T	18: 35,739,088 (GRCm38)	F120L	probably benign	Het
Tnfaip3	T	C	10: 19,002,747 (GRCm38)	K771R	probably damaging	Het
Treml1	C	T	17: 48,360,458 (GRCm38)	L124F	probably damaging	Het
Ttn	G	T	2: 76,780,797 (GRCm38)	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,230,711 (GRCm38)	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,703,083 (GRCm38)	V248L	possibly damaging	Het
Vps35	T	C	8: 85,273,575 (GRCm38)	Q474R	probably damaging	Het
Wdr17	T	A	8: 54,663,008 (GRCm38)	T580S	probably benign	Het
Xpnpep1	T	C	19: 53,010,152 (GRCm38)	K222E	probably benign	Het
Ylpm1	A	G	12: 85,049,737 (GRCm38)	T1446A	probably benign	Het
Zfp277	A	G	12: 40,364,162 (GRCm38)	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,813,275 (GRCm38)	K57M	probably damaging	Het
Zmpste24	A	T	4: 121,081,209 (GRCm38)	S244R	probably benign	Het

Other mutations in Myo7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Myo7b	APN	18	32,021,556 (GRCm38)	utr 5 prime	probably benign
IGL01799:Myo7b	APN	18	31,962,770 (GRCm38)	missense	probably damaging	1.00
IGL01881:Myo7b	APN	18	32,000,267 (GRCm38)	splice site	probably benign
IGL01883:Myo7b	APN	18	31,998,151 (GRCm38)	missense	probably damaging	1.00
IGL01934:Myo7b	APN	18	32,001,341 (GRCm38)	critical splice donor site	probably null
IGL01980:Myo7b	APN	18	31,961,900 (GRCm38)	missense	possibly damaging	0.86
IGL02506:Myo7b	APN	18	31,967,154 (GRCm38)	missense	probably damaging	1.00
IGL02704:Myo7b	APN	18	31,966,961 (GRCm38)	missense	probably benign	0.13
IGL02929:Myo7b	APN	18	31,994,925 (GRCm38)	missense	probably benign	0.19
IGL03149:Myo7b	APN	18	32,014,302 (GRCm38)	missense	probably damaging	1.00
IGL03335:Myo7b	APN	18	31,985,020 (GRCm38)	missense	possibly damaging	0.81
IGL03372:Myo7b	APN	18	31,998,601 (GRCm38)	missense	probably damaging	1.00
IGL03385:Myo7b	APN	18	31,989,577 (GRCm38)	missense	probably benign	0.00
PIT4131001:Myo7b	UTSW	18	31,961,206 (GRCm38)	missense	probably benign	0.17
PIT4445001:Myo7b	UTSW	18	31,962,352 (GRCm38)	missense	probably damaging	0.96
PIT4445001:Myo7b	UTSW	18	31,959,466 (GRCm38)	missense	possibly damaging	0.80
R0034:Myo7b	UTSW	18	31,960,860 (GRCm38)	missense	probably damaging	1.00
R0138:Myo7b	UTSW	18	32,010,151 (GRCm38)	missense	probably damaging	1.00
R0149:Myo7b	UTSW	18	32,014,209 (GRCm38)	missense	probably damaging	1.00
R0312:Myo7b	UTSW	18	32,014,337 (GRCm38)	missense	possibly damaging	0.68
R0361:Myo7b	UTSW	18	32,014,209 (GRCm38)	missense	probably damaging	1.00
R0506:Myo7b	UTSW	18	31,964,386 (GRCm38)	critical splice donor site	probably null
R0524:Myo7b	UTSW	18	32,013,424 (GRCm38)	missense	possibly damaging	0.91
R0645:Myo7b	UTSW	18	31,994,909 (GRCm38)	missense	probably benign	0.10
R0724:Myo7b	UTSW	18	32,005,549 (GRCm38)	splice site	probably benign
R0731:Myo7b	UTSW	18	31,961,825 (GRCm38)	splice site	probably null
R0762:Myo7b	UTSW	18	31,983,944 (GRCm38)	missense	probably benign	0.01
R0843:Myo7b	UTSW	18	31,974,084 (GRCm38)	missense	possibly damaging	0.83
R0894:Myo7b	UTSW	18	32,000,070 (GRCm38)	missense	probably damaging	1.00
R0966:Myo7b	UTSW	18	31,998,763 (GRCm38)	missense	probably damaging	1.00
R1205:Myo7b	UTSW	18	31,994,342 (GRCm38)	missense	probably damaging	1.00
R1387:Myo7b	UTSW	18	31,983,752 (GRCm38)	splice site	probably benign
R1523:Myo7b	UTSW	18	31,966,876 (GRCm38)	missense	probably damaging	1.00
R1544:Myo7b	UTSW	18	31,994,909 (GRCm38)	missense	probably benign	0.10
R1623:Myo7b	UTSW	18	32,000,051 (GRCm38)	missense	probably damaging	1.00
R1780:Myo7b	UTSW	18	31,961,185 (GRCm38)	missense	probably damaging	1.00
R1785:Myo7b	UTSW	18	31,994,897 (GRCm38)	missense	probably benign
R1786:Myo7b	UTSW	18	31,994,897 (GRCm38)	missense	probably benign
R1796:Myo7b	UTSW	18	31,986,675 (GRCm38)	missense	possibly damaging	0.93
R1907:Myo7b	UTSW	18	31,976,999 (GRCm38)	missense	possibly damaging	0.89
R2027:Myo7b	UTSW	18	31,984,960 (GRCm38)	missense	probably benign
R2102:Myo7b	UTSW	18	31,999,978 (GRCm38)	missense	probably damaging	1.00
R2174:Myo7b	UTSW	18	31,983,557 (GRCm38)	missense	probably damaging	1.00
R2272:Myo7b	UTSW	18	31,977,043 (GRCm38)	missense	probably benign	0.41
R2323:Myo7b	UTSW	18	31,971,345 (GRCm38)	missense	probably damaging	1.00
R2365:Myo7b	UTSW	18	32,014,331 (GRCm38)	missense	probably damaging	0.98
R3078:Myo7b	UTSW	18	31,967,184 (GRCm38)	missense	probably benign	0.04
R3522:Myo7b	UTSW	18	32,010,079 (GRCm38)	missense	probably damaging	1.00
R3788:Myo7b	UTSW	18	31,974,112 (GRCm38)	missense	possibly damaging	0.95
R3880:Myo7b	UTSW	18	31,969,514 (GRCm38)	missense	probably damaging	0.96
R4334:Myo7b	UTSW	18	31,976,987 (GRCm38)	missense	probably damaging	1.00
R4343:Myo7b	UTSW	18	31,983,627 (GRCm38)	missense	probably damaging	1.00
R4497:Myo7b	UTSW	18	32,014,229 (GRCm38)	missense	probably benign	0.06
R4498:Myo7b	UTSW	18	32,014,229 (GRCm38)	missense	probably benign	0.06
R4551:Myo7b	UTSW	18	31,985,108 (GRCm38)	missense	probably benign	0.01
R4593:Myo7b	UTSW	18	32,013,375 (GRCm38)	missense	possibly damaging	0.77
R4616:Myo7b	UTSW	18	32,003,487 (GRCm38)	splice site	probably null
R4646:Myo7b	UTSW	18	31,994,369 (GRCm38)	missense	probably benign	0.25
R4648:Myo7b	UTSW	18	31,967,125 (GRCm38)	splice site	probably null
R4737:Myo7b	UTSW	18	31,998,602 (GRCm38)	missense	probably damaging	1.00
R4765:Myo7b	UTSW	18	31,961,900 (GRCm38)	missense	probably benign	0.00
R4790:Myo7b	UTSW	18	32,000,105 (GRCm38)	splice site	probably null
R4909:Myo7b	UTSW	18	31,964,436 (GRCm38)	missense	probably benign	0.01
R5027:Myo7b	UTSW	18	31,975,212 (GRCm38)	missense	probably benign	0.22
R5034:Myo7b	UTSW	18	31,971,387 (GRCm38)	missense	probably damaging	1.00
R5112:Myo7b	UTSW	18	31,983,587 (GRCm38)	missense	probably damaging	1.00
R5266:Myo7b	UTSW	18	31,998,734 (GRCm38)	missense	probably damaging	1.00
R5267:Myo7b	UTSW	18	31,998,734 (GRCm38)	missense	probably damaging	1.00
R5348:Myo7b	UTSW	18	31,983,919 (GRCm38)	missense	probably damaging	0.96
R5457:Myo7b	UTSW	18	31,971,450 (GRCm38)	splice site	probably null
R5540:Myo7b	UTSW	18	32,007,090 (GRCm38)	missense	probably damaging	1.00
R5628:Myo7b	UTSW	18	31,974,187 (GRCm38)	missense	probably benign
R5815:Myo7b	UTSW	18	31,966,288 (GRCm38)	missense	probably damaging	1.00
R6062:Myo7b	UTSW	18	31,967,990 (GRCm38)	missense	possibly damaging	0.94
R6137:Myo7b	UTSW	18	31,999,974 (GRCm38)	missense	probably damaging	1.00
R6158:Myo7b	UTSW	18	31,988,549 (GRCm38)	missense	probably benign	0.00
R6218:Myo7b	UTSW	18	31,959,454 (GRCm38)	missense	probably benign	0.10
R6256:Myo7b	UTSW	18	31,983,695 (GRCm38)	missense	probably damaging	1.00
R6257:Myo7b	UTSW	18	32,013,415 (GRCm38)	missense	probably damaging	1.00
R6265:Myo7b	UTSW	18	31,998,150 (GRCm38)	missense	probably damaging	1.00
R6302:Myo7b	UTSW	18	31,994,386 (GRCm38)	missense	probably damaging	0.98
R6438:Myo7b	UTSW	18	31,966,329 (GRCm38)	missense	probably damaging	1.00
R6654:Myo7b	UTSW	18	31,990,269 (GRCm38)	missense	possibly damaging	0.46
R7030:Myo7b	UTSW	18	31,971,573 (GRCm38)	missense	probably damaging	1.00
R7090:Myo7b	UTSW	18	31,998,712 (GRCm38)	missense	probably damaging	1.00
R7210:Myo7b	UTSW	18	32,007,102 (GRCm38)	missense	probably damaging	1.00
R7218:Myo7b	UTSW	18	31,981,001 (GRCm38)	missense	probably benign	0.05
R7378:Myo7b	UTSW	18	31,966,239 (GRCm38)	missense	probably damaging	1.00
R7458:Myo7b	UTSW	18	31,988,551 (GRCm38)	missense	possibly damaging	0.89
R7517:Myo7b	UTSW	18	32,013,267 (GRCm38)	missense	probably damaging	0.99
R7559:Myo7b	UTSW	18	31,983,360 (GRCm38)	missense	probably benign	0.01
R7667:Myo7b	UTSW	18	31,961,905 (GRCm38)	missense	probably benign
R7737:Myo7b	UTSW	18	32,014,204 (GRCm38)	nonsense	probably null
R7942:Myo7b	UTSW	18	32,013,369 (GRCm38)	missense	probably damaging	0.98
R8030:Myo7b	UTSW	18	31,998,082 (GRCm38)	missense	probably damaging	0.96
R8114:Myo7b	UTSW	18	31,965,624 (GRCm38)	missense	probably damaging	1.00
R8338:Myo7b	UTSW	18	31,971,355 (GRCm38)	missense	probably damaging	0.96
R8341:Myo7b	UTSW	18	31,983,926 (GRCm38)	missense	probably benign	0.39
R8406:Myo7b	UTSW	18	31,959,813 (GRCm38)	missense	probably damaging	1.00
R8464:Myo7b	UTSW	18	31,962,704 (GRCm38)	missense	probably benign	0.00
R8517:Myo7b	UTSW	18	31,967,191 (GRCm38)	missense	possibly damaging	0.87
R8537:Myo7b	UTSW	18	31,977,089 (GRCm38)	missense	probably benign	0.08
R8546:Myo7b	UTSW	18	31,990,148 (GRCm38)	missense	probably benign	0.19
R8721:Myo7b	UTSW	18	32,007,011 (GRCm38)	missense	probably damaging	1.00
R8770:Myo7b	UTSW	18	31,981,071 (GRCm38)	missense	probably benign	0.03
R8841:Myo7b	UTSW	18	31,964,437 (GRCm38)	missense	probably benign	0.06
R8853:Myo7b	UTSW	18	31,986,691 (GRCm38)	missense	possibly damaging	0.67
R8960:Myo7b	UTSW	18	31,994,246 (GRCm38)	splice site	probably benign
R8984:Myo7b	UTSW	18	31,966,349 (GRCm38)	missense	probably null	0.68
R9356:Myo7b	UTSW	18	31,977,043 (GRCm38)	missense	probably damaging	1.00
R9357:Myo7b	UTSW	18	31,960,076 (GRCm38)	missense	probably damaging	1.00
R9364:Myo7b	UTSW	18	32,000,360 (GRCm38)	missense	probably benign	0.12
R9405:Myo7b	UTSW	18	31,976,303 (GRCm38)	missense	probably benign	0.00
R9533:Myo7b	UTSW	18	31,975,244 (GRCm38)	missense	probably benign	0.27
R9776:Myo7b	UTSW	18	32,000,015 (GRCm38)	missense	probably benign	0.45
X0027:Myo7b	UTSW	18	31,965,636 (GRCm38)	missense	probably damaging	1.00
Z1176:Myo7b	UTSW	18	31,980,998 (GRCm38)	missense	possibly damaging	0.82
Z1177:Myo7b	UTSW	18	31,985,056 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCTGAAGGAGACACTTTGTCCC -3'
(R):5'- ACTATGTGGCACCAGGTGCAAAC -3'

Sequencing Primer
(F):5'- CTTGCATCAGGGATGTGCC -3'
(R):5'- CTCCTAGAGCAGCAGTGTAG -3'

Posted On

2013-05-09