Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Myo7b'

503878

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31959454 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 2097 (N2097D)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025254] [ENSMUST00000134663] [ENSMUST00000223753] [ENSMUST00000224328] [ENSMUST00000224383] [ENSMUST00000225404]

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 benign
Transcript: ENSMUST00000134663
AA Change: N2097D

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: N2097D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225400

Predicted Effect

probably benign
Transcript: ENSMUST00000225404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226112

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,837,904 (GRCm38)	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 49,019,307 (GRCm38)	N766K	probably benign	Het
Adam15	A	C	3: 89,343,883 (GRCm38)	I505S	probably benign	Het
Apc2	T	C	10: 80,306,420 (GRCm38)	M391T	probably damaging	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
Bclaf1	A	G	10: 20,334,628 (GRCm38)	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,239,060 (GRCm38)	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,747,928 (GRCm38)		probably null	Het
Ddhd1	A	G	14: 45,614,176 (GRCm38)	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,523,672 (GRCm38)	S469T	probably benign	Het
Dzip3	A	T	16: 48,958,465 (GRCm38)	M323K	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,409 (GRCm38)	A10T	possibly damaging	Het
Eci2	T	A	13: 34,993,065 (GRCm38)		probably null	Het
Fam109b	T	A	15: 82,343,716 (GRCm38)	H145Q	probably benign	Het
Fam227b	A	T	2: 126,126,962 (GRCm38)	V64E	probably damaging	Het
Galnt2	A	G	8: 124,343,315 (GRCm38)	I524V	probably benign	Het
Gm10549	C	A	18: 33,464,305 (GRCm38)		probably benign	Het
Gm14548	A	T	7: 3,894,032 (GRCm38)	S602T	possibly damaging	Het
Gm3443	T	A	19: 21,555,746 (GRCm38)	S25T	probably damaging	Het
Gpr22	T	A	12: 31,711,617 (GRCm38)	K14*	probably null	Het
Grip1	T	C	10: 119,986,346 (GRCm38)	S405P	possibly damaging	Het
Helz2	C	A	2: 181,232,294 (GRCm38)	V2136L	probably benign	Het
Helz2	T	C	2: 181,235,945 (GRCm38)	H1020R	probably damaging	Het
Il1f5	G	A	2: 24,277,490 (GRCm38)		probably benign	Het
Iqsec1	T	A	6: 90,689,635 (GRCm38)	S607C	probably damaging	Het
Klhl2	A	T	8: 64,752,767 (GRCm38)	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,292,747 (GRCm38)	I595V	unknown	Het
Large2	T	C	2: 92,370,636 (GRCm38)	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,082,159 (GRCm38)	Y122H	probably damaging	Het
Map1b	A	T	13: 99,433,206 (GRCm38)	D1002E	unknown	Het
Mink1	C	T	11: 70,598,894 (GRCm38)	T59I	possibly damaging	Het
Mrvi1	G	A	7: 110,876,905 (GRCm38)	T819M	probably benign	Het
Nbea	C	A	3: 55,628,484 (GRCm38)	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,436,093 (GRCm38)	V490E	probably damaging	Het
Olfr1230	G	T	2: 89,296,962 (GRCm38)	H103N	probably damaging	Het
Olfr131	A	G	17: 38,082,729 (GRCm38)	M83T	probably damaging	Het
Olfr1318	T	C	2: 112,156,356 (GRCm38)	I135T	probably damaging	Het
Olfr1369-ps1	G	A	13: 21,116,231 (GRCm38)	E180K	probably damaging	Het
Olfr730	C	A	14: 50,186,678 (GRCm38)	D180Y	probably damaging	Het
Pctp	A	G	11: 89,987,318 (GRCm38)	I130T	probably benign	Het
Pdcl3	T	C	1: 38,988,071 (GRCm38)		probably null	Het
Pkp1	T	C	1: 135,879,908 (GRCm38)	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,591,564 (GRCm38)	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,431 (GRCm38)	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,208,811 (GRCm38)	Y712H	probably damaging	Het
Prune2	T	C	19: 17,121,562 (GRCm38)	S1477P	probably benign	Het
Psma5	A	G	3: 108,279,802 (GRCm38)	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,270,456 (GRCm38)	A284P	probably benign	Het
Samsn1	G	A	16: 75,945,274 (GRCm38)		noncoding transcript	Het
Scel	A	G	14: 103,572,042 (GRCm38)	T273A	probably benign	Het
Slc22a5	T	A	11: 53,891,618 (GRCm38)		probably benign	Het
Slc25a37	A	T	14: 69,249,504 (GRCm38)	M110K	possibly damaging	Het
Slc6a2	A	T	8: 92,981,981 (GRCm38)	M242L	probably benign	Het
Slc8a3	C	A	12: 81,199,567 (GRCm38)	W904L	probably benign	Het
Ss18l1	G	A	2: 180,055,112 (GRCm38)	V109I	probably benign	Het
Tbx5	C	T	5: 119,853,598 (GRCm38)	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,052,913 (GRCm38)	L244F	probably damaging	Het
Tmem107	T	A	11: 69,071,415 (GRCm38)	V66E	probably damaging	Het
Tnr	T	C	1: 159,888,314 (GRCm38)	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,470,807 (GRCm38)	V340A	possibly damaging	Het
Veph1	T	C	3: 66,255,060 (GRCm38)	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,229,721 (GRCm38)	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,464 (GRCm38)	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,998,073 (GRCm38)	E620G	probably benign	Het
Zfp418	A	G	7: 7,182,628 (GRCm38)	H530R	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
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
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'- ATTGCAGATTCAGGGGAGTTACC -3'
(R):5'- TCCTAGGCCATTCTGAGGAGAG -3'

Sequencing Primer
(F):5'- GGAGTTACCCACCATCTGTG -3'
(R):5'- CATTCTGAGGAGAGGGTGGAACTC -3'

Posted On

2018-02-27