Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Myo7b'

67595

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

038912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

splice site (3307 bp from exon)

DNA Base Change (assembly)

T to A at 31961825 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025254] [ENSMUST00000134663] [ENSMUST00000223753] [ENSMUST00000224328]

AlphaFold

Q99MZ6

Predicted Effect

probably null
Transcript: ENSMUST00000025254

SMART Domains

Protein: ENSMUSP00000025254
Gene: ENSMUSG00000024395

Domain	Start	End	E-Value	Type
LIM	14	67	1.15e-14	SMART
LIM	75	126	2.74e-12	SMART
LIM	139	189	3.87e-12	SMART
LIM	197	248	4.31e-19	SMART
LIM	256	308	2.67e-15	SMART
low complexity region	314	330	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134663
AA Change: I1906L

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: I1906L

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

Predicted Effect

probably null
Transcript: ENSMUST00000223753

Predicted Effect

probably null
Transcript: ENSMUST00000224328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225125

Meta Mutation Damage Score

0.2390

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,768,024 (GRCm38)	R27*	probably null	Het
Actg1	A	G	11: 120,346,949 (GRCm38)	F255S	probably damaging	Het
Ahdc1	T	A	4: 133,062,951 (GRCm38)	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,305,390 (GRCm38)	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495 (GRCm38)		probably null	Het
Cacnb2	A	G	2: 14,985,706 (GRCm38)	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143 (GRCm38)	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433 (GRCm38)	S145R	probably damaging	Het
Cdh11	T	A	8: 102,668,019 (GRCm38)	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,901,597 (GRCm38)	D2892G	probably benign	Het
Chuk	A	G	19: 44,103,766 (GRCm38)		probably benign	Het
Clk3	T	C	9: 57,751,126 (GRCm38)		probably benign	Het
Dcaf8	A	T	1: 172,172,509 (GRCm38)	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089 (GRCm38)	T87A	probably damaging	Het
Ddx50	T	C	10: 62,616,249 (GRCm38)	N732D	unknown	Het
Dnah5	A	T	15: 28,311,143 (GRCm38)	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,969,856 (GRCm38)	V858E	probably damaging	Het
Fer1l4	A	G	2: 156,024,070 (GRCm38)	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854 (GRCm38)	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027 (GRCm38)	P228L	probably benign	Het
Galntl6	A	G	8: 58,535,984 (GRCm38)	F57L	probably benign	Het
Gigyf2	T	A	1: 87,407,727 (GRCm38)		probably benign	Het
Gm16505	A	T	13: 3,361,329 (GRCm38)		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777 (GRCm38)		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543 (GRCm38)	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349 (GRCm38)	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644 (GRCm38)	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852 (GRCm38)	H851L	probably damaging	Het
Irag1	T	C	7: 110,876,900 (GRCm38)	S615G	probably benign	Het
Kbtbd6	C	A	14: 79,451,884 (GRCm38)	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032 (GRCm38)	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733 (GRCm38)	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796 (GRCm38)	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705 (GRCm38)	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568 (GRCm38)		probably benign	Het
Lancl1	C	T	1: 67,009,910 (GRCm38)		probably null	Het
Lgr6	C	T	1: 134,994,010 (GRCm38)	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155 (GRCm38)	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,874,264 (GRCm38)		probably benign	Het
Mast3	A	G	8: 70,781,321 (GRCm38)	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612 (GRCm38)		probably null	Het
Mgat4f	A	C	1: 134,389,975 (GRCm38)	M162L	probably benign	Het
Mkrn2	A	T	6: 115,614,651 (GRCm38)	N312Y	probably damaging	Het
Myh1	A	G	11: 67,202,533 (GRCm38)	E150G	probably damaging	Het
Nyap1	A	G	5: 137,735,298 (GRCm38)	V491A	probably damaging	Het
Or10a3	A	T	7: 108,881,533 (GRCm38)	N24K	probably damaging	Het
Or4g17	A	G	2: 111,379,293 (GRCm38)	M98V	probably damaging	Het
Or5p60	T	C	7: 108,124,734 (GRCm38)	I176M	probably benign	Het
Or8g34	T	C	9: 39,461,532 (GRCm38)	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893 (GRCm38)	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811 (GRCm38)	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305 (GRCm38)	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541 (GRCm38)	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279 (GRCm38)	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218 (GRCm38)	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644 (GRCm38)	E219V	probably damaging	Het
Rlig1	T	C	10: 100,586,203 (GRCm38)	T66A	probably damaging	Het
Rufy2	G	A	10: 63,011,844 (GRCm38)		probably benign	Het
Slf2	T	A	19: 44,975,726 (GRCm38)		probably benign	Het
Snrnp200	G	T	2: 127,226,145 (GRCm38)		probably benign	Het
Snx7	T	A	3: 117,829,671 (GRCm38)		probably benign	Het
Stt3a	T	C	9: 36,735,512 (GRCm38)	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000 (GRCm38)		probably null	Het
Tcerg1	C	T	18: 42,571,840 (GRCm38)	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,788,269 (GRCm38)	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488 (GRCm38)	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367 (GRCm38)	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847 (GRCm38)		probably benign	Het
Ugt2b38	G	A	5: 87,420,452 (GRCm38)	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017 (GRCm38)	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632 (GRCm38)	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264 (GRCm38)	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232 (GRCm38)	N54I	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
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'- ATTCCACCCTGCTGCAAGAACCTG -3'
(R):5'- GCCTGCTGCATCACTGAAATGTTCC -3'

Sequencing Primer
(F):5'- ACCTGGGGCAAGACAGTC -3'
(R):5'- AGACAGTTCCTACGCAGCTTG -3'

Posted On

2013-09-03