Mutagenetix > Incidental Mutation

Incidental Mutation 'R7218:Myo7b'

561625

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

045290-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31981001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1099 (M1099K)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

AlphaFold

Q99MZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000134663
AA Change: M1099K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: M1099K

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	T	C	17: 45,733,051 (GRCm38)	T94A	unknown	Het
1700025G04Rik	T	C	1: 151,915,508 (GRCm38)	R101G	probably damaging	Het
6430548M08Rik	T	A	8: 120,145,583 (GRCm38)	S83R	probably damaging	Het
9130019O22Rik	A	T	7: 127,384,680 (GRCm38)	S417T	probably benign	Het
A430089I19Rik	C	A	5: 94,303,254 (GRCm38)	V338F	probably benign	Het
Actn2	A	G	13: 12,278,913 (GRCm38)	S574P	probably benign	Het
Ank	A	T	15: 27,544,321 (GRCm38)	Y56F	probably damaging	Het
Ano7	A	G	1: 93,380,469 (GRCm38)	D74G	probably benign	Het
Apaf1	T	A	10: 91,037,002 (GRCm38)	T738S	probably damaging	Het
Apcs	A	T	1: 172,894,664 (GRCm38)	D38E	possibly damaging	Het
Arntl	A	T	7: 113,287,183 (GRCm38)	H149L	probably damaging	Het
Asap1	G	A	15: 64,130,250 (GRCm38)	T404M	probably damaging	Het
Atp8a1	T	A	5: 67,702,981 (GRCm38)	D717V		Het
Baiap2l1	A	G	5: 144,275,877 (GRCm38)	S443P	probably benign	Het
Brix1	T	C	15: 10,483,292 (GRCm38)		probably null	Het
C1qtnf6	T	C	15: 78,527,374 (GRCm38)	E34G	probably benign	Het
Chil3	A	C	3: 106,160,537 (GRCm38)		probably null	Het
Chmp4c	T	A	3: 10,367,138 (GRCm38)	L36Q	probably damaging	Het
Chrna2	T	A	14: 66,143,871 (GRCm38)		probably null	Het
Clec1a	C	T	6: 129,436,955 (GRCm38)	C57Y	probably damaging	Het
Clec7a	G	T	6: 129,468,922 (GRCm38)	T95K	probably damaging	Het
Csf1r	C	A	18: 61,130,324 (GRCm38)	S926R	probably damaging	Het
Dnajc9	A	G	14: 20,388,439 (GRCm38)	I61T	probably benign	Het
Extl1	T	G	4: 134,359,769 (GRCm38)	S493R	probably benign	Het
Fance	A	G	17: 28,326,174 (GRCm38)	D143G	probably benign	Het
Fcho2	C	T	13: 98,753,613 (GRCm38)		probably null	Het
Filip1	T	C	9: 79,818,074 (GRCm38)	S1088G	probably benign	Het
Gm10696	A	T	3: 94,175,549 (GRCm38)	H318Q	possibly damaging	Het
Gnat1	A	C	9: 107,675,985 (GRCm38)	M319R	possibly damaging	Het
Gpr132	A	T	12: 112,852,429 (GRCm38)	V259E	probably damaging	Het
Gprc5d	T	A	6: 135,116,454 (GRCm38)	M152L	probably benign	Het
Hif3a	C	T	7: 17,050,588 (GRCm38)	R244H	probably damaging	Het
Hivep3	T	C	4: 120,095,452 (GRCm38)	S322P	possibly damaging	Het
Il33	T	A	19: 29,958,925 (GRCm38)	F229I	probably damaging	Het
Il4ra	A	G	7: 125,575,778 (GRCm38)	D386G	probably benign	Het
Ino80	G	T	2: 119,458,127 (GRCm38)	H33N	probably benign	Het
Ip6k1	A	G	9: 108,045,582 (GRCm38)	D228G	unknown	Het
Mamdc2	C	T	19: 23,447,610 (GRCm38)	A40T	probably benign	Het
Meis3	T	C	7: 16,184,701 (GRCm38)	V357A	probably benign	Het
Mycbp2	T	C	14: 103,133,846 (GRCm38)	T4199A	probably benign	Het
Mzb1	A	T	18: 35,647,922 (GRCm38)	H104Q	probably benign	Het
Nfatc2	A	G	2: 168,571,264 (GRCm38)	L167P	probably benign	Het
Numa1	A	T	7: 102,000,910 (GRCm38)	S1283C	probably benign	Het
Nup98	T	G	7: 102,191,900 (GRCm38)		probably null	Het
Olfr1342	T	C	4: 118,690,018 (GRCm38)	I145V	probably benign	Het
Olfr476	T	C	7: 107,967,667 (GRCm38)	L90P	probably benign	Het
Pkhd1l1	A	G	15: 44,522,695 (GRCm38)	T1243A	possibly damaging	Het
Ptpro	C	T	6: 137,454,598 (GRCm38)	R1152W	probably damaging	Het
Ptprt	T	C	2: 161,547,364 (GRCm38)	T1270A	probably damaging	Het
Pwwp2b	A	C	7: 139,256,133 (GRCm38)	T497P	probably damaging	Het
Rab44	T	A	17: 29,139,444 (GRCm38)	V202E		Het
Rbfox1	C	T	16: 7,294,083 (GRCm38)	T191I	probably damaging	Het
Rufy4	A	G	1: 74,133,015 (GRCm38)	K299R	probably damaging	Het
Snip1	T	A	4: 125,072,919 (GRCm38)	S381T	probably damaging	Het
Spen	T	C	4: 141,472,650 (GRCm38)	I2889V	possibly damaging	Het
St3gal3	T	A	4: 117,957,442 (GRCm38)	D218V		Het
Sun1	A	G	5: 139,226,687 (GRCm38)	T70A	unknown	Het
Tbc1d23	C	T	16: 57,170,382 (GRCm38)	V678M	probably damaging	Het
Tdh	T	A	14: 63,495,757 (GRCm38)	Y195F	probably damaging	Het
Tescl	C	T	7: 24,333,861 (GRCm38)	R13H	possibly damaging	Het
Tfap2c	T	A	2: 172,557,357 (GRCm38)	M508K	probably benign	Het
Trappc4	A	G	9: 44,405,290 (GRCm38)	M136T	probably benign	Het
Tyk2	A	G	9: 21,105,054 (GRCm38)	C1207R	probably damaging	Het
Ugt2b36	T	C	5: 87,081,539 (GRCm38)	Y355C	probably damaging	Het
Vmn1r119	T	A	7: 21,011,647 (GRCm38)	H270L	probably benign	Het
Vmn2r20	G	A	6: 123,386,115 (GRCm38)	P570L	probably damaging	Het
Wnk1	A	C	6: 120,002,273 (GRCm38)	Y284*	probably null	Het
Yars2	C	T	16: 16,303,318 (GRCm38)	A112V	probably damaging	Het
Zer1	T	C	2: 30,105,012 (GRCm38)	N470S	probably damaging	Het
Zfp879	A	C	11: 50,832,681 (GRCm38)	V516G	possibly 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
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'- TCTAACAGCAGCTAGGCCAAG -3'
(R):5'- TCAGTGTCAGATTGGTACAGAG -3'

Sequencing Primer
(F):5'- AGACCTAGTCTCCAGGCTCATG -3'
(R):5'- ACAGAGCTCTTGGCCATTG -3'

Posted On

2019-06-26