Mutagenetix > Incidental Mutation

Incidental Mutation 'R4551:Myo7b'

333980

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

041782-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32092287-32169984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32118161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 822 (S822G)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000134663
AA Change: S822G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: S822G

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

0.1262

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (71/71)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	G	11: 119,902,395 (GRCm39)	E610A	probably benign	Het
Abhd17b	T	C	19: 21,658,290 (GRCm39)	S176P	possibly damaging	Het
Adgrg7	A	G	16: 56,568,375 (GRCm39)	Y427H	probably damaging	Het
Alox15	T	A	11: 70,235,422 (GRCm39)	I647L	probably benign	Het
Ankhd1	C	A	18: 36,788,560 (GRCm39)		probably null	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
Armcx5	T	A	X: 134,647,256 (GRCm39)	V444D	probably damaging	Het
C4bp	A	G	1: 130,564,464 (GRCm39)	Y407H	possibly damaging	Het
Cog6	T	A	3: 52,905,741 (GRCm39)	E96V	probably damaging	Het
Cox20	A	C	1: 178,150,114 (GRCm39)	N96T	probably benign	Het
Cpa3	T	C	3: 20,273,934 (GRCm39)	I351V	probably benign	Het
Cpd	C	T	11: 76,702,712 (GRCm39)	G552D	probably damaging	Het
Cyld	A	G	8: 89,433,762 (GRCm39)	K184E	possibly damaging	Het
Dab2	G	A	15: 6,464,775 (GRCm39)	G324D	probably damaging	Het
Depdc1a	T	A	3: 159,228,221 (GRCm39)	D324E	probably damaging	Het
Dnah9	T	C	11: 65,732,192 (GRCm39)	E4238G	probably damaging	Het
Dync1i1	T	A	6: 5,923,206 (GRCm39)	D275E	probably benign	Het
Epgn	A	T	5: 91,175,421 (GRCm39)	K14*	probably null	Het
Farp2	T	A	1: 93,546,314 (GRCm39)	L868Q	possibly damaging	Het
Gpr45	A	G	1: 43,071,950 (GRCm39)	T198A	probably benign	Het
Grk2	C	T	19: 4,336,084 (GRCm39)	V402M	possibly damaging	Het
Gsap	A	T	5: 21,495,569 (GRCm39)	D79V	probably damaging	Het
Gtf2h3	A	G	5: 124,728,482 (GRCm39)		probably benign	Het
Hus1b	C	A	13: 31,131,059 (GRCm39)	S200I	probably damaging	Het
Hypk	A	G	2: 121,283,961 (GRCm39)		probably null	Het
Ikbke	T	C	1: 131,185,770 (GRCm39)		probably benign	Het
Kat6b	A	G	14: 21,711,516 (GRCm39)	E670G	probably damaging	Het
Kif26b	T	A	1: 178,711,600 (GRCm39)	I740N	probably damaging	Het
Lhx3	G	A	2: 26,091,202 (GRCm39)	P369L	probably damaging	Het
Man2c1	T	C	9: 57,038,445 (GRCm39)	L35P	probably damaging	Het
Mical2	T	A	7: 111,981,123 (GRCm39)	S366T	possibly damaging	Het
Mroh9	A	T	1: 162,871,662 (GRCm39)	I607N	probably damaging	Het
Mybphl	T	C	3: 108,281,479 (GRCm39)	I65T	possibly damaging	Het
Myo1g	A	G	11: 6,467,874 (GRCm39)	I187T	probably damaging	Het
Nkx2-4	C	A	2: 146,926,842 (GRCm39)	A142S	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Odf4	C	T	11: 68,812,866 (GRCm39)	S264N	probably benign	Het
Or12k7	G	T	2: 36,958,355 (GRCm39)	V13L	probably benign	Het
Or13a17	A	T	7: 140,271,655 (GRCm39)	Y279F	probably damaging	Het
Or56b1	A	T	7: 104,285,631 (GRCm39)	H250L	probably damaging	Het
Papolb	T	C	5: 142,514,933 (GRCm39)	I237V	probably benign	Het
Parpbp	T	A	10: 87,929,564 (GRCm39)	Q428L	possibly damaging	Het
Pcdhb16	T	C	18: 37,612,887 (GRCm39)	F616L	probably damaging	Het
Pdk3	A	T	X: 92,825,846 (GRCm39)	M253K	probably damaging	Het
Pgap2	C	A	7: 101,875,674 (GRCm39)		probably benign	Het
Pkhd1l1	C	A	15: 44,414,281 (GRCm39)	N2849K	probably damaging	Het
Pprc1	A	G	19: 46,055,664 (GRCm39)		probably benign	Het
Psma2	A	G	13: 14,791,430 (GRCm39)	Y25C	possibly damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptpn5	C	A	7: 46,740,600 (GRCm39)		probably benign	Het
Pxn	G	T	5: 115,690,779 (GRCm39)		probably benign	Het
Scd3	C	A	19: 44,203,878 (GRCm39)	A22E	probably benign	Het
Sdr42e1	T	C	8: 118,390,347 (GRCm39)	E98G	probably benign	Het
Slc14a2	A	C	18: 78,239,068 (GRCm39)	S184A	probably benign	Het
Tmem236	A	T	2: 14,223,964 (GRCm39)	Q251L	probably benign	Het
Trappc8	T	C	18: 21,007,729 (GRCm39)	T129A	probably benign	Het
Vmn1r90	A	C	7: 14,295,894 (GRCm39)	M68R	possibly damaging	Het
Vmn2r105	A	G	17: 20,446,613 (GRCm39)	V462A	probably benign	Het
Vmn2r7	T	C	3: 64,598,110 (GRCm39)	T816A	possibly damaging	Het
Vmn2r81	T	A	10: 79,104,241 (GRCm39)	I288K	possibly damaging	Het
Zfp180	A	C	7: 23,803,998 (GRCm39)	K139T	possibly damaging	Het
Zfp932	T	C	5: 110,157,505 (GRCm39)	V401A	probably benign	Het

Other mutations in Myo7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Myo7b	APN	18	32,154,609 (GRCm39)	utr 5 prime	probably benign
IGL01799:Myo7b	APN	18	32,095,823 (GRCm39)	missense	probably damaging	1.00
IGL01881:Myo7b	APN	18	32,133,320 (GRCm39)	splice site	probably benign
IGL01883:Myo7b	APN	18	32,131,204 (GRCm39)	missense	probably damaging	1.00
IGL01934:Myo7b	APN	18	32,134,394 (GRCm39)	critical splice donor site	probably null
IGL01980:Myo7b	APN	18	32,094,953 (GRCm39)	missense	possibly damaging	0.86
IGL02506:Myo7b	APN	18	32,100,207 (GRCm39)	missense	probably damaging	1.00
IGL02704:Myo7b	APN	18	32,100,014 (GRCm39)	missense	probably benign	0.13
IGL02929:Myo7b	APN	18	32,127,978 (GRCm39)	missense	probably benign	0.19
IGL03149:Myo7b	APN	18	32,147,355 (GRCm39)	missense	probably damaging	1.00
IGL03335:Myo7b	APN	18	32,118,073 (GRCm39)	missense	possibly damaging	0.81
IGL03372:Myo7b	APN	18	32,131,654 (GRCm39)	missense	probably damaging	1.00
IGL03385:Myo7b	APN	18	32,122,630 (GRCm39)	missense	probably benign	0.00
PIT4131001:Myo7b	UTSW	18	32,094,259 (GRCm39)	missense	probably benign	0.17
PIT4445001:Myo7b	UTSW	18	32,095,405 (GRCm39)	missense	probably damaging	0.96
PIT4445001:Myo7b	UTSW	18	32,092,519 (GRCm39)	missense	possibly damaging	0.80
R0034:Myo7b	UTSW	18	32,093,913 (GRCm39)	missense	probably damaging	1.00
R0138:Myo7b	UTSW	18	32,143,204 (GRCm39)	missense	probably damaging	1.00
R0149:Myo7b	UTSW	18	32,147,262 (GRCm39)	missense	probably damaging	1.00
R0226:Myo7b	UTSW	18	32,105,949 (GRCm39)	missense	probably benign	0.00
R0312:Myo7b	UTSW	18	32,147,390 (GRCm39)	missense	possibly damaging	0.68
R0361:Myo7b	UTSW	18	32,147,262 (GRCm39)	missense	probably damaging	1.00
R0506:Myo7b	UTSW	18	32,097,439 (GRCm39)	critical splice donor site	probably null
R0524:Myo7b	UTSW	18	32,146,477 (GRCm39)	missense	possibly damaging	0.91
R0645:Myo7b	UTSW	18	32,127,962 (GRCm39)	missense	probably benign	0.10
R0724:Myo7b	UTSW	18	32,138,602 (GRCm39)	splice site	probably benign
R0731:Myo7b	UTSW	18	32,094,878 (GRCm39)	splice site	probably null
R0762:Myo7b	UTSW	18	32,116,997 (GRCm39)	missense	probably benign	0.01
R0843:Myo7b	UTSW	18	32,107,137 (GRCm39)	missense	possibly damaging	0.83
R0894:Myo7b	UTSW	18	32,133,123 (GRCm39)	missense	probably damaging	1.00
R0966:Myo7b	UTSW	18	32,131,816 (GRCm39)	missense	probably damaging	1.00
R1205:Myo7b	UTSW	18	32,127,395 (GRCm39)	missense	probably damaging	1.00
R1387:Myo7b	UTSW	18	32,116,805 (GRCm39)	splice site	probably benign
R1523:Myo7b	UTSW	18	32,099,929 (GRCm39)	missense	probably damaging	1.00
R1544:Myo7b	UTSW	18	32,127,962 (GRCm39)	missense	probably benign	0.10
R1623:Myo7b	UTSW	18	32,133,104 (GRCm39)	missense	probably damaging	1.00
R1780:Myo7b	UTSW	18	32,094,238 (GRCm39)	missense	probably damaging	1.00
R1785:Myo7b	UTSW	18	32,127,950 (GRCm39)	missense	probably benign
R1786:Myo7b	UTSW	18	32,127,950 (GRCm39)	missense	probably benign
R1796:Myo7b	UTSW	18	32,119,728 (GRCm39)	missense	possibly damaging	0.93
R1907:Myo7b	UTSW	18	32,110,052 (GRCm39)	missense	possibly damaging	0.89
R2027:Myo7b	UTSW	18	32,118,013 (GRCm39)	missense	probably benign
R2102:Myo7b	UTSW	18	32,133,031 (GRCm39)	missense	probably damaging	1.00
R2174:Myo7b	UTSW	18	32,116,610 (GRCm39)	missense	probably damaging	1.00
R2272:Myo7b	UTSW	18	32,110,096 (GRCm39)	missense	probably benign	0.41
R2323:Myo7b	UTSW	18	32,104,398 (GRCm39)	missense	probably damaging	1.00
R2365:Myo7b	UTSW	18	32,147,384 (GRCm39)	missense	probably damaging	0.98
R3078:Myo7b	UTSW	18	32,100,237 (GRCm39)	missense	probably benign	0.04
R3522:Myo7b	UTSW	18	32,143,132 (GRCm39)	missense	probably damaging	1.00
R3788:Myo7b	UTSW	18	32,107,165 (GRCm39)	missense	possibly damaging	0.95
R3880:Myo7b	UTSW	18	32,102,567 (GRCm39)	missense	probably damaging	0.96
R4334:Myo7b	UTSW	18	32,110,040 (GRCm39)	missense	probably damaging	1.00
R4343:Myo7b	UTSW	18	32,116,680 (GRCm39)	missense	probably damaging	1.00
R4497:Myo7b	UTSW	18	32,147,282 (GRCm39)	missense	probably benign	0.06
R4498:Myo7b	UTSW	18	32,147,282 (GRCm39)	missense	probably benign	0.06
R4593:Myo7b	UTSW	18	32,146,428 (GRCm39)	missense	possibly damaging	0.77
R4616:Myo7b	UTSW	18	32,136,540 (GRCm39)	splice site	probably null
R4646:Myo7b	UTSW	18	32,127,422 (GRCm39)	missense	probably benign	0.25
R4648:Myo7b	UTSW	18	32,100,178 (GRCm39)	splice site	probably null
R4737:Myo7b	UTSW	18	32,131,655 (GRCm39)	missense	probably damaging	1.00
R4765:Myo7b	UTSW	18	32,094,953 (GRCm39)	missense	probably benign	0.00
R4790:Myo7b	UTSW	18	32,133,158 (GRCm39)	splice site	probably null
R4909:Myo7b	UTSW	18	32,097,489 (GRCm39)	missense	probably benign	0.01
R5027:Myo7b	UTSW	18	32,108,265 (GRCm39)	missense	probably benign	0.22
R5034:Myo7b	UTSW	18	32,104,440 (GRCm39)	missense	probably damaging	1.00
R5112:Myo7b	UTSW	18	32,116,640 (GRCm39)	missense	probably damaging	1.00
R5266:Myo7b	UTSW	18	32,131,787 (GRCm39)	missense	probably damaging	1.00
R5267:Myo7b	UTSW	18	32,131,787 (GRCm39)	missense	probably damaging	1.00
R5348:Myo7b	UTSW	18	32,116,972 (GRCm39)	missense	probably damaging	0.96
R5457:Myo7b	UTSW	18	32,104,503 (GRCm39)	splice site	probably null
R5540:Myo7b	UTSW	18	32,140,143 (GRCm39)	missense	probably damaging	1.00
R5628:Myo7b	UTSW	18	32,107,240 (GRCm39)	missense	probably benign
R5815:Myo7b	UTSW	18	32,099,341 (GRCm39)	missense	probably damaging	1.00
R6062:Myo7b	UTSW	18	32,101,043 (GRCm39)	missense	possibly damaging	0.94
R6137:Myo7b	UTSW	18	32,133,027 (GRCm39)	missense	probably damaging	1.00
R6158:Myo7b	UTSW	18	32,121,602 (GRCm39)	missense	probably benign	0.00
R6218:Myo7b	UTSW	18	32,092,507 (GRCm39)	missense	probably benign	0.10
R6256:Myo7b	UTSW	18	32,116,748 (GRCm39)	missense	probably damaging	1.00
R6257:Myo7b	UTSW	18	32,146,468 (GRCm39)	missense	probably damaging	1.00
R6265:Myo7b	UTSW	18	32,131,203 (GRCm39)	missense	probably damaging	1.00
R6302:Myo7b	UTSW	18	32,127,439 (GRCm39)	missense	probably damaging	0.98
R6438:Myo7b	UTSW	18	32,099,382 (GRCm39)	missense	probably damaging	1.00
R6654:Myo7b	UTSW	18	32,123,322 (GRCm39)	missense	possibly damaging	0.46
R7030:Myo7b	UTSW	18	32,104,626 (GRCm39)	missense	probably damaging	1.00
R7090:Myo7b	UTSW	18	32,131,765 (GRCm39)	missense	probably damaging	1.00
R7210:Myo7b	UTSW	18	32,140,155 (GRCm39)	missense	probably damaging	1.00
R7218:Myo7b	UTSW	18	32,114,054 (GRCm39)	missense	probably benign	0.05
R7378:Myo7b	UTSW	18	32,099,292 (GRCm39)	missense	probably damaging	1.00
R7458:Myo7b	UTSW	18	32,121,604 (GRCm39)	missense	possibly damaging	0.89
R7517:Myo7b	UTSW	18	32,146,320 (GRCm39)	missense	probably damaging	0.99
R7559:Myo7b	UTSW	18	32,116,413 (GRCm39)	missense	probably benign	0.01
R7667:Myo7b	UTSW	18	32,094,958 (GRCm39)	missense	probably benign
R7737:Myo7b	UTSW	18	32,147,257 (GRCm39)	nonsense	probably null
R7942:Myo7b	UTSW	18	32,146,422 (GRCm39)	missense	probably damaging	0.98
R8030:Myo7b	UTSW	18	32,131,135 (GRCm39)	missense	probably damaging	0.96
R8114:Myo7b	UTSW	18	32,098,677 (GRCm39)	missense	probably damaging	1.00
R8338:Myo7b	UTSW	18	32,104,408 (GRCm39)	missense	probably damaging	0.96
R8341:Myo7b	UTSW	18	32,116,979 (GRCm39)	missense	probably benign	0.39
R8406:Myo7b	UTSW	18	32,092,866 (GRCm39)	missense	probably damaging	1.00
R8464:Myo7b	UTSW	18	32,095,757 (GRCm39)	missense	probably benign	0.00
R8517:Myo7b	UTSW	18	32,100,244 (GRCm39)	missense	possibly damaging	0.87
R8537:Myo7b	UTSW	18	32,110,142 (GRCm39)	missense	probably benign	0.08
R8546:Myo7b	UTSW	18	32,123,201 (GRCm39)	missense	probably benign	0.19
R8721:Myo7b	UTSW	18	32,140,064 (GRCm39)	missense	probably damaging	1.00
R8770:Myo7b	UTSW	18	32,114,124 (GRCm39)	missense	probably benign	0.03
R8841:Myo7b	UTSW	18	32,097,490 (GRCm39)	missense	probably benign	0.06
R8853:Myo7b	UTSW	18	32,119,744 (GRCm39)	missense	possibly damaging	0.67
R8960:Myo7b	UTSW	18	32,127,299 (GRCm39)	splice site	probably benign
R8984:Myo7b	UTSW	18	32,099,402 (GRCm39)	missense	probably null	0.68
R9356:Myo7b	UTSW	18	32,110,096 (GRCm39)	missense	probably damaging	1.00
R9357:Myo7b	UTSW	18	32,093,129 (GRCm39)	missense	probably damaging	1.00
R9364:Myo7b	UTSW	18	32,133,413 (GRCm39)	missense	probably benign	0.12
R9405:Myo7b	UTSW	18	32,109,356 (GRCm39)	missense	probably benign	0.00
R9533:Myo7b	UTSW	18	32,108,297 (GRCm39)	missense	probably benign	0.27
R9776:Myo7b	UTSW	18	32,133,068 (GRCm39)	missense	probably benign	0.45
X0027:Myo7b	UTSW	18	32,098,689 (GRCm39)	missense	probably damaging	1.00
Z1176:Myo7b	UTSW	18	32,114,051 (GRCm39)	missense	possibly damaging	0.82
Z1177:Myo7b	UTSW	18	32,118,109 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTGCCAGTAGCTCTTCCG -3'
(R):5'- TTTGAATGGTAGGCTCTGCTCC -3'

Sequencing Primer
(F):5'- GTAGCTCTTCCGGACAACCATG -3'
(R):5'- GGTTCATACACACTGGCACGTATG -3'

Posted On

2015-08-18