Mutagenetix > Incidental Mutation

Incidental Mutation 'R8517:Myo7b'

656228

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

067849-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8517 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31967191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 1597 (L1597M)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134663
AA Change: L1597M

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: L1597M

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,942,969 (GRCm38)	D131E	probably damaging	Het
Abca17	C	A	17: 24,317,233 (GRCm38)	V487F	probably benign	Het
Anapc5	T	C	5: 122,821,030 (GRCm38)	S41G	probably benign	Het
Aoc1	C	T	6: 48,906,710 (GRCm38)	Q507*	probably null	Het
Ccdc171	G	A	4: 83,743,061 (GRCm38)	R1136H	probably damaging	Het
Clspn	A	G	4: 126,566,219 (GRCm38)	D413G	probably benign	Het
Copz2	A	G	11: 96,853,483 (GRCm38)	K74E	possibly damaging	Het
Cpsf4l	C	A	11: 113,708,825 (GRCm38)	A45S	probably benign	Het
Cr2	T	C	1: 195,155,899 (GRCm38)	I710V	probably benign	Het
Csmd2	G	A	4: 128,552,686 (GRCm38)	R3348Q		Het
Dchs2	A	G	3: 83,271,112 (GRCm38)	I1157M	probably damaging	Het
Dcst1	A	G	3: 89,365,148 (GRCm38)	F3L	probably benign	Het
Dennd5b	A	C	6: 149,029,121 (GRCm38)	C743G	probably damaging	Het
Dnah6	T	C	6: 73,178,457 (GRCm38)	E725G	probably benign	Het
Dnajc3	G	T	14: 118,953,177 (GRCm38)	G51*	probably null	Het
Dyrk2	T	C	10: 118,861,021 (GRCm38)	T111A	probably benign	Het
F5	T	A	1: 164,176,253 (GRCm38)	F206I	probably damaging	Het
Fam217b	T	A	2: 178,420,772 (GRCm38)	S176R	probably benign	Het
Farsb	A	T	1: 78,463,296 (GRCm38)	L313*	probably null	Het
Fbh1	A	G	2: 11,777,430 (GRCm38)		probably null	Het
Fgd4	G	A	16: 16,422,645 (GRCm38)	T740I	probably benign	Het
Gprc6a	G	T	10: 51,631,241 (GRCm38)	A64D	probably benign	Het
Gtf3c1	A	T	7: 125,654,551 (GRCm38)	V1365E	probably damaging	Het
Hdc	C	G	2: 126,597,970 (GRCm38)		probably null	Het
Igkv5-39	T	G	6: 69,900,569 (GRCm38)	I68L	possibly damaging	Het
Kcnh2	A	T	5: 24,326,638 (GRCm38)	V425D	probably damaging	Het
Kcnj12	T	C	11: 61,069,373 (GRCm38)	S166P	probably benign	Het
Krtap16-1	A	T	11: 99,985,698 (GRCm38)	C293*	probably null	Het
Map7	T	C	10: 20,261,835 (GRCm38)	V251A	probably damaging	Het
Nmu	T	C	5: 76,345,479 (GRCm38)	E82G	possibly damaging	Het
Nup85	T	C	11: 115,564,564 (GRCm38)		probably null	Het
Nwd2	A	G	5: 63,791,582 (GRCm38)	N166D	probably damaging	Het
Or52n2b	T	A	7: 104,916,474 (GRCm38)	H274L	possibly damaging	Het
Pbrm1	C	A	14: 31,067,782 (GRCm38)	D784E	probably benign	Het
Pcdhgb1	T	A	18: 37,682,064 (GRCm38)	M536K	possibly damaging	Het
Pml	T	A	9: 58,220,368 (GRCm38)	Q698L	possibly damaging	Het
Pon1	T	C	6: 5,171,769 (GRCm38)	Y294C	probably benign	Het
Rasal2	T	C	1: 157,146,279 (GRCm38)		probably null	Het
Rims1	T	A	1: 22,483,165 (GRCm38)	H484L	probably damaging	Het
Rpia	C	A	6: 70,766,646 (GRCm38)	V274L	possibly damaging	Het
Sart1	A	G	19: 5,383,197 (GRCm38)	L424P	probably damaging	Het
Scnm1	A	C	3: 95,132,823 (GRCm38)		probably null	Het
Slfn8	T	A	11: 83,004,142 (GRCm38)	M613L	possibly damaging	Het
Snph	A	G	2: 151,593,721 (GRCm38)	V429A	probably damaging	Het
Tarbp1	T	A	8: 126,444,195 (GRCm38)	D1022V	probably benign	Het
Tcof1	G	C	18: 60,829,051 (GRCm38)	A702G	possibly damaging	Het
Ttc8	A	G	12: 98,943,335 (GRCm38)	N100D	probably benign	Het
Zbtb49	T	A	5: 38,200,653 (GRCm38)	H752L	probably benign	Het
Zfp1005	A	T	2: 150,268,123 (GRCm38)	E244D	probably benign	Het
Zfp263	T	C	16: 3,746,896 (GRCm38)		probably null	Het
Zfp46	A	G	4: 136,291,147 (GRCm38)	T431A	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
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
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
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'- GATAGTCTCTTTCTCCGGAGCC -3'
(R):5'- AGGTGAAAGTCTATCACCCCTG -3'

Sequencing Primer
(F):5'- AGCCCTGCCAGAGAAGG -3'
(R):5'- GAAAGTCTATCACCCCTGTGTTCTG -3'

Posted On

2020-10-20