Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Myo7b'

197491

Institutional Source

Beutler Lab

Gene Symbol

Myo7b

Ensembl Gene

ENSMUSG00000024388

Gene Name

myosin VIIB

Synonyms

MMRRC Submission

039811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31959234-32036961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31961185 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1970 (E1970G)

Ref Sequence

ENSEMBL: ENSMUSP00000118046 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000134663
AA Change: E1970G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: E1970G

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

noncoding transcript
Transcript: ENSMUST00000225125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225400

Meta Mutation Damage Score

0.3972

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,852,593 (GRCm38)	E493G	probably damaging	Het
Aff3	A	T	1: 38,535,702 (GRCm38)	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,232,415 (GRCm38)	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,041,070 (GRCm38)	T156A	probably benign	Het
Arhgef4	T	A	1: 34,724,160 (GRCm38)	S832R	possibly damaging	Het
Asb10	T	C	5: 24,533,676 (GRCm38)	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,965,984 (GRCm38)	T25A	probably benign	Het
Atp13a2	T	A	4: 141,002,460 (GRCm38)	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,776,897 (GRCm38)	Y174*	probably null	Het
Bche	A	G	3: 73,700,620 (GRCm38)	I491T	probably benign	Het
Bckdhb	T	C	9: 83,953,783 (GRCm38)		probably null	Het
Cadps2	C	T	6: 23,320,932 (GRCm38)		probably null	Het
Cdc42bpb	A	T	12: 111,322,907 (GRCm38)	V468E	probably damaging	Het
Chrnd	T	C	1: 87,192,548 (GRCm38)	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,936,878 (GRCm38)	V645D	unknown	Het
Cpa1	C	T	6: 30,643,008 (GRCm38)	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,841,876 (GRCm38)		probably benign	Het
Cyp2c39	C	A	19: 39,538,851 (GRCm38)		probably benign	Het
Cyp2d26	T	C	15: 82,794,007 (GRCm38)	N56S	probably damaging	Het
Ddx21	A	G	10: 62,594,147 (GRCm38)		probably benign	Het
Dnah11	A	T	12: 118,027,558 (GRCm38)	C2358S	probably damaging	Het
Entpd8	T	C	2: 25,084,306 (GRCm38)	S368P	probably benign	Het
Epg5	A	T	18: 78,023,990 (GRCm38)	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,167,796 (GRCm38)	V623E	probably benign	Het
Flg2	A	G	3: 93,202,999 (GRCm38)	E778G	unknown	Het
Gbe1	C	T	16: 70,495,324 (GRCm38)	R515*	probably null	Het
Hsd17b6	A	G	10: 127,994,327 (GRCm38)		probably null	Het
Hyal6	C	T	6: 24,734,032 (GRCm38)		probably benign	Het
Ifi27l2b	A	G	12: 103,451,319 (GRCm38)	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,512,401 (GRCm38)	D309E	unknown	Het
Lrp6	C	T	6: 134,464,451 (GRCm38)	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103 (GRCm38)	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,230,680 (GRCm38)	R150*	probably null	Het
Mx1	T	C	16: 97,451,512 (GRCm38)	*289W	probably null	Het
Mypn	T	C	10: 63,121,964 (GRCm38)	Y24C	probably damaging	Het
Naxe	G	C	3: 88,057,133 (GRCm38)	P167A	probably benign	Het
Nmnat2	A	T	1: 153,112,440 (GRCm38)	K272*	probably null	Het
Nmnat3	C	T	9: 98,354,111 (GRCm38)	T19M	probably damaging	Het
Olfr1275	T	C	2: 111,231,698 (GRCm38)	I32V	probably benign	Het
Olfr1412	G	A	1: 92,588,389 (GRCm38)	V20M	probably benign	Het
Olfr1474	A	G	19: 13,471,362 (GRCm38)	T131A	probably benign	Het
Olfr64	A	T	7: 103,893,555 (GRCm38)	F60Y	probably damaging	Het
Olfr66	A	G	7: 103,881,592 (GRCm38)	V217A	probably benign	Het
Pgm3	T	G	9: 86,556,204 (GRCm38)	E509D	probably damaging	Het
Phf3	A	T	1: 30,811,942 (GRCm38)	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,581,569 (GRCm38)	S3062A	probably benign	Het
Pogz	A	T	3: 94,870,126 (GRCm38)	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,523,470 (GRCm38)	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,896,507 (GRCm38)	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,635,318 (GRCm38)	Y703C	possibly damaging	Het
Recql	T	A	6: 142,364,598 (GRCm38)	Q502L	probably benign	Het
Rgs9	A	T	11: 109,239,499 (GRCm38)	Y383*	probably null	Het
Rimbp3	T	C	16: 17,212,632 (GRCm38)	S1307P	probably benign	Het
Rspo1	A	G	4: 125,007,745 (GRCm38)	T200A	probably damaging	Het
Ryr3	C	T	2: 112,867,292 (GRCm38)	M922I	probably damaging	Het
Samm50	C	T	15: 84,211,127 (GRCm38)	A438V	probably damaging	Het
Sec1	A	C	7: 45,678,832 (GRCm38)	S264A	probably benign	Het
Sec31a	A	T	5: 100,381,336 (GRCm38)		probably null	Het
Slc13a3	T	C	2: 165,406,699 (GRCm38)	N553S	unknown	Het
Smg6	T	A	11: 74,946,116 (GRCm38)	L852Q	probably damaging	Het
Spata13	A	G	14: 60,691,725 (GRCm38)	N244S	probably damaging	Het
Srbd1	T	C	17: 86,057,685 (GRCm38)	R648G	probably damaging	Het
Sugct	T	G	13: 17,452,454 (GRCm38)		probably null	Het
Tmed10	A	G	12: 85,354,879 (GRCm38)	Y85H	probably damaging	Het
Trim68	A	G	7: 102,684,073 (GRCm38)	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,038 (GRCm38)	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,225,256 (GRCm38)	R21W	probably damaging	Het
Ttn	T	C	2: 76,810,699 (GRCm38)	I11863V	probably null	Het
Ubp1	G	A	9: 113,964,579 (GRCm38)	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,314,918 (GRCm38)	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,261,737 (GRCm38)	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,351,373 (GRCm38)	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,828,465 (GRCm38)	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,418,572 (GRCm38)	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,796,652 (GRCm38)	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,883,766 (GRCm38)	S284P	probably damaging	Het
Zswim8	C	A	14: 20,716,327 (GRCm38)	H841N	probably 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
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
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'- TGAGACTCCAGCCAGGGCAATAAC -3'
(R):5'- TGCAGGGACAACATCATGTGGAC -3'

Sequencing Primer
(F):5'- ACCCATCTATCTGGAAGTCAGTG -3'
(R):5'- TGAGAGCCTCAGCCTTTGAC -3'

Posted On

2014-05-23