Mutagenetix > Incidental Mutation

Incidental Mutation 'R2174:Myo7b'

237738

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

040176-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2174 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31983557 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 999 (L999P)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000134663
AA Change: L999P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: L999P

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

0.5719

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (73/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	T	C	7: 38,194,828 (GRCm38)	I95T	possibly damaging	Het
4930452B06Rik	T	C	14: 8,558,109 (GRCm38)	I159V	probably benign	Het
Adarb1	A	G	10: 77,295,798 (GRCm38)	I619T	probably benign	Het
Aldh2	T	C	5: 121,572,668 (GRCm38)		probably benign	Het
Antxrl	T	A	14: 34,060,400 (GRCm38)	L180Q	probably damaging	Het
Asnsd1	A	T	1: 53,347,601 (GRCm38)	I289N	probably benign	Het
Asxl3	T	G	18: 22,453,644 (GRCm38)	S164A	possibly damaging	Het
Cacnb2	C	T	2: 14,958,767 (GRCm38)	T108I	probably benign	Het
Capn2	A	T	1: 182,479,725 (GRCm38)	I516N	probably benign	Het
Casc1	T	C	6: 145,175,170 (GRCm38)	H641R	probably damaging	Het
Ccdc59	A	T	10: 105,841,527 (GRCm38)	K9M	possibly damaging	Het
Cenpo	T	C	12: 4,217,318 (GRCm38)	K73R	probably benign	Het
Clasp1	A	G	1: 118,560,095 (GRCm38)	H823R	probably damaging	Het
Col6a4	T	C	9: 106,060,132 (GRCm38)	D1395G	probably damaging	Het
Ddx60	A	G	8: 61,956,141 (GRCm38)	I404V	probably damaging	Het
Ddx60	G	T	8: 62,017,200 (GRCm38)	M1407I	probably benign	Het
Dennd3	A	T	15: 73,555,305 (GRCm38)	R844W	probably damaging	Het
Depdc1b	A	T	13: 108,362,253 (GRCm38)	K157*	probably null	Het
Dnajc1	T	C	2: 18,307,951 (GRCm38)	D196G	probably damaging	Het
Fanca	A	G	8: 123,271,270 (GRCm38)	W1226R	probably benign	Het
Fbxl13	A	G	5: 21,582,048 (GRCm38)	V297A	possibly damaging	Het
Fnta	A	T	8: 26,013,470 (GRCm38)	F96I	possibly damaging	Het
Fzd3	T	C	14: 65,212,231 (GRCm38)		probably benign	Het
Gckr	T	C	5: 31,327,009 (GRCm38)	V597A	possibly damaging	Het
Gm43302	T	C	5: 105,274,350 (GRCm38)	K496R	probably benign	Het
Gm5283	A	G	3: 17,230,841 (GRCm38)		noncoding transcript	Het
Gm5724	A	T	6: 141,727,593 (GRCm38)	Y406*	probably null	Het
Gm6741	A	G	17: 91,236,904 (GRCm38)	I32V	probably benign	Het
Gnptab	T	A	10: 88,434,044 (GRCm38)	F870I	probably damaging	Het
Gpx8	G	A	13: 113,045,606 (GRCm38)	P98S	probably benign	Het
Grm2	T	C	9: 106,647,795 (GRCm38)	I574V	probably benign	Het
Gtf3c5	T	C	2: 28,567,775 (GRCm38)	D468G	probably benign	Het
Hectd3	A	T	4: 116,999,701 (GRCm38)	M482L	probably benign	Het
Ier5	G	T	1: 155,098,853 (GRCm38)	P193H	possibly damaging	Het
Inpp4a	A	G	1: 37,396,130 (GRCm38)	N827S	probably damaging	Het
Kif13a	A	G	13: 46,769,176 (GRCm38)	L387P	probably damaging	Het
Map3k1	G	C	13: 111,752,482 (GRCm38)	H1314D	possibly damaging	Het
Mbl2	G	A	19: 30,234,012 (GRCm38)	C11Y	possibly damaging	Het
Msr1	A	G	8: 39,631,340 (GRCm38)	L58P	probably damaging	Het
Mtmr10	T	A	7: 64,336,764 (GRCm38)	F530Y	possibly damaging	Het
Myoz3	T	C	18: 60,590,224 (GRCm38)	E8G	probably benign	Het
Naip6	C	A	13: 100,298,987 (GRCm38)	M1009I	probably benign	Het
Nav2	T	A	7: 49,452,663 (GRCm38)	M342K	probably damaging	Het
Ndufaf6	T	C	4: 11,070,228 (GRCm38)	H131R	probably benign	Het
Nlrp4a	T	C	7: 26,449,424 (GRCm38)	L152P	probably damaging	Het
Olfr1413	A	G	1: 92,573,657 (GRCm38)	N162S	probably benign	Het
Pan3	T	C	5: 147,450,653 (GRCm38)	I144T	possibly damaging	Het
Prkdc	A	T	16: 15,734,922 (GRCm38)	Q2074L	probably benign	Het
Pthlh	G	A	6: 147,257,012 (GRCm38)	T150I	probably benign	Het
Ptprq	A	T	10: 107,705,553 (GRCm38)	Y371N	probably damaging	Het
Rfwd3	A	G	8: 111,283,343 (GRCm38)	S377P	probably damaging	Het
Rpl31-ps17	C	T	12: 54,701,612 (GRCm38)		noncoding transcript	Het
Sap130	T	C	18: 31,677,479 (GRCm38)		probably null	Het
Sap25	T	G	5: 137,642,629 (GRCm38)	M229R	possibly damaging	Het
Scaper	A	T	9: 55,859,037 (GRCm38)	V479E	probably null	Het
Scn3a	T	A	2: 65,507,206 (GRCm38)	D649V	probably damaging	Het
Smc1b	A	G	15: 85,121,851 (GRCm38)		probably benign	Het
Sowahb	T	C	5: 93,044,425 (GRCm38)	E145G	possibly damaging	Het
Stxbp5	T	A	10: 9,835,846 (GRCm38)	I277F	possibly damaging	Het
Tanc1	T	C	2: 59,843,833 (GRCm38)	S1754P	possibly damaging	Het
Tanc2	A	G	11: 105,910,309 (GRCm38)	D1117G	probably benign	Het
Tbc1d31	A	G	15: 57,951,741 (GRCm38)	M605V	possibly damaging	Het
Tekt3	A	T	11: 63,094,688 (GRCm38)	D440V	possibly damaging	Het
Tmem67	C	T	4: 12,063,730 (GRCm38)	W477*	probably null	Het
Tra2a	T	C	6: 49,250,927 (GRCm38)		probably benign	Het
Trappc12	A	G	12: 28,747,381 (GRCm38)	F51L	possibly damaging	Het
Trrap	C	A	5: 144,821,855 (GRCm38)	P2183Q	probably benign	Het
Ubn2	T	A	6: 38,470,141 (GRCm38)		probably null	Het
Unc5d	A	T	8: 28,694,540 (GRCm38)	V644E	probably damaging	Het
Xpo4	A	G	14: 57,590,090 (GRCm38)	L883P	probably damaging	Het
Zbbx	T	G	3: 75,052,414 (GRCm38)	D616A	possibly damaging	Het
Zfp943	T	A	17: 21,992,823 (GRCm38)	C297S	probably damaging	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
R0226:Myo7b	UTSW	18	31,972,896 (GRCm38)	missense	probably benign	0.00
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
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'- ATCTAGAGCAGCCTGGGGAATG -3'
(R):5'- AAAGGTTGGCCCATGTCCTC -3'

Sequencing Primer
(F):5'- CAGCCTGGGGAATGAGACAG -3'
(R):5'- CTTTCAGGATCTGGAAGTAAAGACCC -3'

Posted On

2014-10-02