Mutagenetix > Incidental Mutation

Incidental Mutation 'R9405:Myo7b'

711503

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9405 (G1)

Quality Score

215.009

Status

Not validated

Chromosome

Chromosomal Location

32092287-32169984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32109356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1172 (A1172T)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000134663
AA Change: A1172T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: A1172T

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: 98.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	A	9: 118,978,506 (GRCm39)	Q277L	probably damaging	Het
Adamts18	A	G	8: 114,430,030 (GRCm39)	V1135A	probably damaging	Het
Apobr	A	G	7: 126,184,704 (GRCm39)	S72G	possibly damaging	Het
Arl13b	T	A	16: 62,632,260 (GRCm39)	Q214L	possibly damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Asah2	T	G	19: 31,986,045 (GRCm39)	T542P	possibly damaging	Het
Asns	C	T	6: 7,689,283 (GRCm39)	C73Y	probably damaging	Het
Calhm2	T	A	19: 47,124,108 (GRCm39)	T79S	probably benign	Het
Cd300c2	T	G	11: 114,891,587 (GRCm39)	T96P	probably damaging	Het
Copb1	G	A	7: 113,822,458 (GRCm39)	T757I	possibly damaging	Het
Csmd3	T	A	15: 47,539,187 (GRCm39)	T1517S		Het
Ddx60	T	A	8: 62,425,248 (GRCm39)	L679M	probably benign	Het
Dip2b	A	G	15: 100,093,757 (GRCm39)	K1123R	probably benign	Het
Dnah17	A	G	11: 118,009,737 (GRCm39)	S612P	probably benign	Het
Dnah5	T	A	15: 28,272,306 (GRCm39)	C1037S	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Ei24	A	T	9: 36,694,137 (GRCm39)	I244N	possibly damaging	Het
Epb41l4a	C	A	18: 33,943,271 (GRCm39)		probably null	Het
Fam83b	A	G	9: 76,398,703 (GRCm39)	M800T	possibly damaging	Het
Fcf1	T	G	12: 85,021,013 (GRCm39)	C98G	probably benign	Het
H2bc3	T	C	13: 23,931,141 (GRCm39)	Y122H	probably benign	Het
Hltf	G	T	3: 20,137,094 (GRCm39)	Q417H	possibly damaging	Het
Hmg20b	T	C	10: 81,185,258 (GRCm39)	S35G	probably benign	Het
Igkv4-57-1	T	G	6: 69,521,525 (GRCm39)	Y59S	probably damaging	Het
Irs2	C	T	8: 11,055,061 (GRCm39)	V1124I	possibly damaging	Het
Kprp	A	G	3: 92,731,560 (GRCm39)	C497R	unknown	Het
Krt15	A	T	11: 100,022,961 (GRCm39)	V418E	probably benign	Het
Lce1e	G	A	3: 92,615,312 (GRCm39)	P12S	unknown	Het
Lsmem1	T	C	12: 40,227,113 (GRCm39)	D124G	probably damaging	Het
Morc3	T	C	16: 93,642,036 (GRCm39)	F85S	probably damaging	Het
Mtnr1b	A	T	9: 15,774,447 (GRCm39)	V204E	possibly damaging	Het
Nbeal1	T	A	1: 60,349,424 (GRCm39)	I2362N	probably damaging	Het
Nde1	T	G	16: 14,006,255 (GRCm39)	L261R	probably damaging	Het
Neurl1b	A	G	17: 26,658,265 (GRCm39)	D401G	probably benign	Het
Nfkb2	T	C	19: 46,296,839 (GRCm39)	V303A	probably damaging	Het
Nlrc5	C	T	8: 95,199,652 (GRCm39)	P88S	probably damaging	Het
Or10ad1b	T	A	15: 98,124,912 (GRCm39)	I207F	possibly damaging	Het
Or4k36	T	A	2: 111,146,460 (GRCm39)	I212K	possibly damaging	Het
Or6c203	T	A	10: 129,010,165 (GRCm39)	M242L	probably benign	Het
Pde1c	T	A	6: 56,049,199 (GRCm39)	K705*	probably null	Het
Pear1	A	T	3: 87,659,890 (GRCm39)	F699I	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Prickle1	A	T	15: 93,400,861 (GRCm39)	L541*	probably null	Het
Prss39	G	A	1: 34,538,344 (GRCm39)	G70S	probably damaging	Het
Prune2	T	G	19: 17,193,708 (GRCm39)	N3065K	probably damaging	Het
Qrfprl	T	A	6: 65,433,078 (GRCm39)	N299K	probably benign	Het
Rdh5	A	C	10: 128,753,937 (GRCm39)	D127E	probably benign	Het
Ryr3	G	A	2: 112,664,612 (GRCm39)	H1580Y	probably damaging	Het
Sash1	G	A	10: 8,637,994 (GRCm39)		probably benign	Het
Scgb3a2	T	A	18: 43,900,129 (GRCm39)	L139Q	possibly damaging	Het
Six1	A	G	12: 73,093,095 (GRCm39)	S36P	probably damaging	Het
Slc30a5	T	C	13: 100,950,416 (GRCm39)	I281V	probably benign	Het
Snai2	T	A	16: 14,524,589 (GRCm39)	Y32N	probably benign	Het
Stat2	T	C	10: 128,114,634 (GRCm39)	S244P	probably damaging	Het
Syne1	A	G	10: 5,152,030 (GRCm39)	I5759T	probably damaging	Het
Tbc1d23	T	C	16: 57,012,985 (GRCm39)	N329S	possibly damaging	Het
Tex2	A	T	11: 106,435,214 (GRCm39)	S737R	unknown	Het
Trav13d-3	G	A	14: 53,270,715 (GRCm39)	R59H	probably benign	Het
Tspan9	C	T	6: 127,944,124 (GRCm39)	A59T	probably benign	Het
Usp53	G	A	3: 122,746,918 (GRCm39)	A349V	probably damaging	Het
Vmn1r188	T	C	13: 22,272,898 (GRCm39)	L284P	probably damaging	Het
Vmn2r85	T	C	10: 130,261,215 (GRCm39)	N374S	probably damaging	Het
Zfp622	A	T	15: 25,985,035 (GRCm39)	I134F	probably damaging	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
R4551:Myo7b	UTSW	18	32,118,161 (GRCm39)	missense	probably benign	0.01
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
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'- GGTGACCTGGAAGGATCAAC -3'
(R):5'- AGAGTTAGAGTCTATCTGAGCGTG -3'

Sequencing Primer
(F):5'- GACATGAGTTTAGTACCTGGTACCC -3'
(R):5'- GTCTATCTGAGCGTGACTAGAACC -3'

Posted On

2022-05-16