Mutagenetix > Incidental Mutation

Incidental Mutation 'R8406:Myo7b'

652450

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

067765-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8406 (G1)

Quality Score

216.009

Status

Not validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31959813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 2076 (C2076S)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably benign
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

probably damaging
Transcript: ENSMUST00000134663
AA Change: C2076S

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

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: C2076S

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 benign
Transcript: ENSMUST00000223753

Predicted Effect

probably benign
Transcript: ENSMUST00000224328

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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
4921501E09Rik	C	A	17: 33,067,064 (GRCm38)	A255S	probably benign	Het
Abca8a	A	G	11: 110,086,517 (GRCm38)	F139L	probably damaging	Het
Adgrg6	A	T	10: 14,467,338 (GRCm38)	D288E	probably benign	Het
Agbl1	A	G	7: 76,418,667 (GRCm38)	E327G		Het
Aipl1	T	A	11: 72,031,506 (GRCm38)	M126L	possibly damaging	Het
Alkal2	G	T	12: 30,884,851 (GRCm38)	G23V	probably damaging	Het
Arl3	A	T	19: 46,542,384 (GRCm38)	S157T	probably benign	Het
Armc3	A	T	2: 19,235,554 (GRCm38)	I41F	probably damaging	Het
Atg9a	A	C	1: 75,190,384 (GRCm38)	Y8D	probably damaging	Het
Atp10b	T	G	11: 43,203,157 (GRCm38)	H509Q	probably benign	Het
Cabyr	C	A	18: 12,750,747 (GRCm38)	T97K	probably benign	Het
Ccdc91	T	C	6: 147,537,422 (GRCm38)	F174S	possibly damaging	Het
Cep350	A	T	1: 155,922,418 (GRCm38)	H1207Q	probably benign	Het
Clstn3	A	T	6: 124,462,177 (GRCm38)	N40K	probably damaging	Het
Col4a4	G	A	1: 82,523,890 (GRCm38)	P381S	unknown	Het
Cpne5	A	T	17: 29,209,481 (GRCm38)	F116Y	probably benign	Het
Csf2rb2	T	C	15: 78,287,016 (GRCm38)	T457A	probably benign	Het
Cyb5d2	T	C	11: 72,789,133 (GRCm38)	E112G	probably benign	Het
Cyp2b13	T	C	7: 26,081,798 (GRCm38)	F212L	probably benign	Het
Dlx6	T	G	6: 6,863,779 (GRCm38)	S134A	probably benign	Het
Egln1	A	G	8: 124,911,750 (GRCm38)	Y380H	probably benign	Het
Fam160a1	G	T	3: 85,672,720 (GRCm38)	P726Q	probably benign	Het
Fbxl13	A	T	5: 21,523,654 (GRCm38)	I479N	probably damaging	Het
Fis1	A	G	5: 136,963,011 (GRCm38)	K20E	probably benign	Het
Foxk1	G	T	5: 142,401,773 (GRCm38)	V84L	unknown	Het
Gdf5	C	A	2: 155,942,352 (GRCm38)	G227W	probably damaging	Het
Ghrh	T	A	2: 157,333,736 (GRCm38)	T13S	probably benign	Het
Gnb2	A	G	5: 137,528,603 (GRCm38)	L308P	probably damaging	Het
Grik2	A	T	10: 49,272,767 (GRCm38)	V574D	probably damaging	Het
Hydin	A	T	8: 110,609,911 (GRCm38)	I5107F	possibly damaging	Het
Kl	A	T	5: 150,982,764 (GRCm38)	Y533F	probably benign	Het
Man2b1	G	T	8: 85,096,278 (GRCm38)	R816L	probably damaging	Het
Myo5c	T	C	9: 75,275,541 (GRCm38)	Y821H	probably damaging	Het
Naip6	C	T	13: 100,300,276 (GRCm38)	A580T	possibly damaging	Het
Nectin2	A	T	7: 19,738,350 (GRCm38)	V38E	probably damaging	Het
Olfr538	A	T	7: 140,574,131 (GRCm38)		probably benign	Het
Osbpl9	T	C	4: 109,064,573 (GRCm38)	Y536C	possibly damaging	Het
Pcdh18	T	G	3: 49,756,549 (GRCm38)	I106L	probably damaging	Het
Pde4dip	T	C	3: 97,699,112 (GRCm38)	K2149E	probably benign	Het
Pds5a	A	T	5: 65,646,338 (GRCm38)	C588S	probably benign	Het
Pop1	T	C	15: 34,529,170 (GRCm38)	M812T	probably benign	Het
Pou2f3	T	C	9: 43,139,858 (GRCm38)	T178A	probably damaging	Het
Rab44	C	T	17: 29,140,320 (GRCm38)	A494V	unknown	Het
Ros1	G	C	10: 52,101,845 (GRCm38)	T1456S	possibly damaging	Het
Rubcnl	T	G	14: 75,051,985 (GRCm38)	F644L	probably damaging	Het
Saraf	C	T	8: 34,165,448 (GRCm38)	P227L	probably benign	Het
Sh3glb1	T	G	3: 144,691,437 (GRCm38)	E383D	probably damaging	Het
Sh3rf3	T	C	10: 59,083,585 (GRCm38)	V508A	probably damaging	Het
Sirt6	A	T	10: 81,622,494 (GRCm38)	H308Q	probably benign	Het
Slc29a1	T	A	17: 45,589,780 (GRCm38)	I119F	probably damaging	Het
Smtnl1	C	T	2: 84,818,398 (GRCm38)	E171K	probably benign	Het
Spg11	T	A	2: 122,093,442 (GRCm38)	E799D	probably damaging	Het
Tecpr1	A	T	5: 144,200,840 (GRCm38)	W894R	probably damaging	Het
Tiam2	A	C	17: 3,507,790 (GRCm38)	I1230L	possibly damaging	Het
Tnfrsf8	A	G	4: 145,292,695 (GRCm38)	L190P	probably damaging	Het
Trim35	C	T	14: 66,297,275 (GRCm38)	T69M	possibly damaging	Het
Ttll7	T	C	3: 146,940,024 (GRCm38)	Y546H	probably benign	Het
Ubash3b	C	T	9: 41,029,675 (GRCm38)	G389R	probably damaging	Het
Vma21-ps	C	T	4: 52,497,034 (GRCm38)	V71I	probably damaging	Het
Vmn1r43	T	A	6: 89,870,432 (GRCm38)	H24L	possibly damaging	Het
Vps37c	T	A	19: 10,710,355 (GRCm38)	L60Q	probably damaging	Het
Ythdf2	A	G	4: 132,204,635 (GRCm38)	W405R	probably damaging	Het
Zfp775	T	C	6: 48,620,703 (GRCm38)	C504R	probably damaging	Het
Zfp82	A	G	7: 30,062,227 (GRCm38)		probably null	Het
Zpr1	T	A	9: 46,274,102 (GRCm38)	I127N	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
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
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'- CCTCAGAATGGCCTAGGATG -3'
(R):5'- CCAAGACCAAGGTAGAGTGC -3'

Sequencing Primer
(F):5'- TGGCCCAGAGTCAGGTTAG -3'
(R):5'- AGCAGTCATCCATGGGCATG -3'

Posted On

2020-10-20