Mutagenetix > Incidental Mutation

Incidental Mutation 'R0835:Coro7'

77855

Institutional Source

Beutler Lab

Gene Symbol

Coro7

Ensembl Gene

ENSMUSG00000039637

Gene Name

coronin 7

Synonyms

0610011B16Rik

MMRRC Submission

039014-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0835 (G1)

Quality Score

139

Status

Not validated

Chromosome

Chromosomal Location

4444748-4497584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4450118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 577 (E577G)

Ref Sequence

ENSEMBL: ENSMUSP00000048489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038552] [ENSMUST00000135823]

AlphaFold

Q9D2V7

Predicted Effect

probably benign
Transcript: ENSMUST00000038552
AA Change: E577G

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: E577G

Domain	Start	End	E-Value	Type
DUF1899	3	64	6.41e-15	SMART
WD40	66	106	1.83e-7	SMART
WD40	115	154	4.13e0	SMART
WD40	157	196	1.78e-5	SMART
DUF1900	251	385	4.49e-60	SMART
low complexity region	427	456	N/A	INTRINSIC
DUF1899	463	528	1.2e-19	SMART
WD40	531	570	3.64e-2	SMART
WD40	580	620	8.55e-8	SMART
WD40	623	662	1.16e-9	SMART
low complexity region	667	679	N/A	INTRINSIC
DUF1900	718	854	6.69e-68	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130125

Predicted Effect

probably benign
Transcript: ENSMUST00000135823

SMART Domains

Protein: ENSMUSP00000118310
Gene: ENSMUSG00000039637

Domain	Start	End	E-Value	Type
DUF1899	3	64	6.41e-15	SMART
WD40	66	106	1.83e-7	SMART
WD40	115	154	4.13e0	SMART
WD40	157	196	1.78e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150724

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.2%
20x: 90.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal but exhibit disruption of the Golgi apparatus. Mutant fibroblasts show increased cell spreading and cellular F-actin content, increased cell polarization and migration, and enhanced wound healing in a scratch-wound assay. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	G	T	6: 146,855,036 (GRCm39)		probably benign	Het
Abca16	A	G	7: 120,065,007 (GRCm39)	T555A	probably benign	Het
Abca4	A	T	3: 121,919,862 (GRCm39)	D1048V	probably damaging	Het
Abcf2	G	T	5: 24,779,251 (GRCm39)	T99N	probably damaging	Het
Acan	A	T	7: 78,763,980 (GRCm39)	S2119C	probably damaging	Het
Adgre4	G	A	17: 56,106,637 (GRCm39)	C292Y	probably damaging	Het
Alk	A	G	17: 72,176,837 (GRCm39)	F1489S	probably damaging	Het
Ampd2	A	G	3: 107,983,818 (GRCm39)	V573A	possibly damaging	Het
Aoc1	T	C	6: 48,882,448 (GRCm39)	F130S	probably damaging	Het
Bbs2	A	T	8: 94,801,887 (GRCm39)	I554N	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cbfa2t3	T	C	8: 123,374,517 (GRCm39)	H76R	probably benign	Het
Cdc14a	G	T	3: 116,122,171 (GRCm39)	N216K	probably benign	Het
Cep126	T	C	9: 8,130,224 (GRCm39)	Y69C	probably damaging	Het
Cep135	A	T	5: 76,763,553 (GRCm39)	R514S	probably benign	Het
Cfi	A	T	3: 129,662,191 (GRCm39)	Y390F	probably damaging	Het
Chd8	T	C	14: 52,441,482 (GRCm39)	D870G	probably benign	Het
Clptm1	A	G	7: 19,369,599 (GRCm39)	V437A	possibly damaging	Het
Coro2b	T	C	9: 62,333,119 (GRCm39)	N422S	possibly damaging	Het
Crh	G	A	3: 19,748,528 (GRCm39)	P38L	probably benign	Het
Ctif	T	A	18: 75,568,407 (GRCm39)	D577V	probably damaging	Het
Deup1	T	A	9: 15,511,047 (GRCm39)	Q244L	probably damaging	Het
Dhx16	A	G	17: 36,192,581 (GRCm39)	E171G	probably damaging	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Dync1i2	C	T	2: 71,081,316 (GRCm39)	L508F	probably damaging	Het
Dync2h1	T	A	9: 7,116,642 (GRCm39)		probably null	Het
E2f4	C	T	8: 106,027,140 (GRCm39)	Q235*	probably null	Het
Eif2b3	A	G	4: 116,916,002 (GRCm39)	H203R	probably damaging	Het
Epha5	A	T	5: 84,534,101 (GRCm39)	W77R	probably damaging	Het
Gpx6	C	T	13: 21,501,238 (GRCm39)	P109S	probably damaging	Het
Gsdmc4	A	T	15: 63,765,649 (GRCm39)	V300E	probably damaging	Het
Gspt1	A	C	16: 11,056,802 (GRCm39)	S198A	probably benign	Het
Ift70a2	T	C	2: 75,808,494 (GRCm39)	N6S	probably benign	Het
Itpk1	C	T	12: 102,641,707 (GRCm39)	V39M	probably damaging	Het
Kremen2	G	T	17: 23,961,811 (GRCm39)	P232Q	probably damaging	Het
Lamtor4	C	A	5: 138,257,320 (GRCm39)	T74K	probably benign	Het
Mbtd1	T	A	11: 93,822,665 (GRCm39)	F492I	probably benign	Het
Mroh1	G	T	15: 76,336,083 (GRCm39)	V1486F	probably damaging	Het
Myg1	G	A	15: 102,240,537 (GRCm39)	V76M	probably damaging	Het
Myo16	G	T	8: 10,322,766 (GRCm39)	Q65H	probably damaging	Het
Ncapg	A	G	5: 45,838,790 (GRCm39)	E487G	probably damaging	Het
Ncoa5	T	C	2: 164,844,714 (GRCm39)	E332G	probably damaging	Het
Nek6	T	A	2: 38,459,643 (GRCm39)	I162N	possibly damaging	Het
Nwd2	C	A	5: 63,957,473 (GRCm39)	R268S	probably damaging	Het
Or4c11	T	C	2: 88,695,345 (GRCm39)	V132A	probably benign	Het
Or9a7	T	C	6: 40,521,272 (GRCm39)	I214V	probably benign	Het
Palm3	T	G	8: 84,754,776 (GRCm39)	S141A	probably benign	Het
Pbrm1	T	C	14: 30,789,536 (GRCm39)	F728L	probably damaging	Het
Phf3	A	G	1: 30,869,632 (GRCm39)	V472A	probably benign	Het
Plekha5	T	A	6: 140,514,576 (GRCm39)	L35*	probably null	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp6r2	G	A	15: 89,152,785 (GRCm39)	E309K	possibly damaging	Het
Ptpn6	T	A	6: 124,704,499 (GRCm39)		probably null	Het
Rasgrf1	T	C	9: 89,882,824 (GRCm39)	V882A	probably benign	Het
Ryr3	T	G	2: 112,480,483 (GRCm39)	E4335D	probably benign	Het
Slc12a5	T	A	2: 164,835,958 (GRCm39)	I892N	probably damaging	Het
Slc22a2	G	A	17: 12,831,318 (GRCm39)	M369I	probably benign	Het
Sox10	A	T	15: 79,040,641 (GRCm39)	Y300N	probably damaging	Het
Speg	T	C	1: 75,352,318 (GRCm39)	F79L	probably benign	Het
Sult1b1	T	A	5: 87,665,311 (GRCm39)	I208L	probably benign	Het
Syt9	A	G	7: 107,105,737 (GRCm39)	N460S	probably benign	Het
Tecpr1	T	A	5: 144,149,410 (GRCm39)	N339I	possibly damaging	Het
Tmem63b	C	A	17: 45,971,870 (GRCm39)	D782Y	possibly damaging	Het
Ttn	T	C	2: 76,725,105 (GRCm39)		probably benign	Het
Upk3bl	G	T	5: 136,086,185 (GRCm39)	R40S	probably benign	Het
Usp28	T	C	9: 48,912,824 (GRCm39)	I25T	probably damaging	Het
Vmn2r27	A	G	6: 124,177,583 (GRCm39)	Y474H	probably damaging	Het
Vps13a	A	T	19: 16,712,246 (GRCm39)		probably null	Het
Wdr36	A	T	18: 32,982,135 (GRCm39)	N371I	possibly damaging	Het
Wnt7b	A	G	15: 85,421,978 (GRCm39)	F228S	probably damaging	Het
Xirp2	T	C	2: 67,338,254 (GRCm39)	I165T	possibly damaging	Het
Zan	T	G	5: 137,406,659 (GRCm39)		probably benign	Het
Zfp760	A	G	17: 21,942,559 (GRCm39)	D578G	possibly damaging	Het
Zfyve19	T	A	2: 119,041,266 (GRCm39)	S61T	probably benign	Het
Zfyve9	T	C	4: 108,575,866 (GRCm39)	D405G	probably damaging	Het

Other mutations in Coro7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Coro7	APN	16	4,452,500 (GRCm39)	missense	possibly damaging	0.83
IGL00885:Coro7	APN	16	4,452,890 (GRCm39)	missense	probably benign	0.00
IGL02944:Coro7	APN	16	4,453,276 (GRCm39)	missense	probably benign	0.14
IGL03104:Coro7	APN	16	4,446,990 (GRCm39)	missense	probably damaging	1.00
IGL03153:Coro7	APN	16	4,453,246 (GRCm39)	critical splice donor site	probably null
R0022:Coro7	UTSW	16	4,451,168 (GRCm39)	missense	probably benign	0.01
R0022:Coro7	UTSW	16	4,451,168 (GRCm39)	missense	probably benign	0.01
R0071:Coro7	UTSW	16	4,488,391 (GRCm39)	missense	probably damaging	1.00
R0071:Coro7	UTSW	16	4,488,391 (GRCm39)	missense	probably damaging	1.00
R0080:Coro7	UTSW	16	4,448,328 (GRCm39)	missense	probably damaging	1.00
R0193:Coro7	UTSW	16	4,445,368 (GRCm39)	unclassified	probably benign
R0242:Coro7	UTSW	16	4,448,042 (GRCm39)	splice site	probably benign
R0318:Coro7	UTSW	16	4,493,671 (GRCm39)	missense	probably benign	0.09
R0554:Coro7	UTSW	16	4,450,121 (GRCm39)	missense	possibly damaging	0.63
R0666:Coro7	UTSW	16	4,449,775 (GRCm39)	missense	possibly damaging	0.70
R0968:Coro7	UTSW	16	4,487,919 (GRCm39)	splice site	probably benign
R1670:Coro7	UTSW	16	4,446,097 (GRCm39)	missense	possibly damaging	0.76
R1709:Coro7	UTSW	16	4,452,305 (GRCm39)	splice site	probably null
R1848:Coro7	UTSW	16	4,448,298 (GRCm39)	missense	probably damaging	0.99
R1884:Coro7	UTSW	16	4,446,683 (GRCm39)	unclassified	probably benign
R1935:Coro7	UTSW	16	4,446,596 (GRCm39)	missense	probably benign
R1937:Coro7	UTSW	16	4,446,596 (GRCm39)	missense	probably benign
R1939:Coro7	UTSW	16	4,446,596 (GRCm39)	missense	probably benign
R1967:Coro7	UTSW	16	4,452,753 (GRCm39)	missense	probably damaging	1.00
R1969:Coro7	UTSW	16	4,451,620 (GRCm39)	missense	probably benign	0.19
R1970:Coro7	UTSW	16	4,451,620 (GRCm39)	missense	probably benign	0.19
R3034:Coro7	UTSW	16	4,450,155 (GRCm39)	missense	probably damaging	0.99
R4638:Coro7	UTSW	16	4,450,151 (GRCm39)	missense	probably damaging	0.96
R4710:Coro7	UTSW	16	4,452,797 (GRCm39)	intron	probably benign
R4723:Coro7	UTSW	16	4,449,858 (GRCm39)	missense	probably benign	0.00
R4789:Coro7	UTSW	16	4,446,085 (GRCm39)	missense	probably damaging	1.00
R5493:Coro7	UTSW	16	4,450,351 (GRCm39)	missense	probably damaging	0.99
R5619:Coro7	UTSW	16	4,494,799 (GRCm39)	critical splice donor site	probably null
R5756:Coro7	UTSW	16	4,450,148 (GRCm39)	missense	probably damaging	0.97
R5974:Coro7	UTSW	16	4,449,753 (GRCm39)	missense	possibly damaging	0.83
R6010:Coro7	UTSW	16	4,487,820 (GRCm39)	missense	possibly damaging	0.68
R6038:Coro7	UTSW	16	4,497,414 (GRCm39)	critical splice donor site	probably null
R6038:Coro7	UTSW	16	4,497,414 (GRCm39)	critical splice donor site	probably null
R6906:Coro7	UTSW	16	4,451,168 (GRCm39)	missense	probably benign	0.00
R6925:Coro7	UTSW	16	4,446,538 (GRCm39)	critical splice donor site	probably null
R7069:Coro7	UTSW	16	4,497,475 (GRCm39)	start codon destroyed	probably damaging	0.99
R7326:Coro7	UTSW	16	4,449,912 (GRCm39)	missense	probably damaging	0.96
R7421:Coro7	UTSW	16	4,486,615 (GRCm39)	missense	probably benign	0.19
R7521:Coro7	UTSW	16	4,449,346 (GRCm39)	missense	probably benign	0.00
R7773:Coro7	UTSW	16	4,449,870 (GRCm39)	missense	probably damaging	1.00
R7846:Coro7	UTSW	16	4,488,400 (GRCm39)	missense	probably damaging	1.00
R8240:Coro7	UTSW	16	4,486,660 (GRCm39)	missense	probably damaging	0.96
R8726:Coro7	UTSW	16	4,486,619 (GRCm39)	missense	possibly damaging	0.95
R8762:Coro7	UTSW	16	4,452,203 (GRCm39)	missense	probably benign
R9383:Coro7	UTSW	16	4,452,888 (GRCm39)	missense	probably damaging	1.00
R9451:Coro7	UTSW	16	4,488,402 (GRCm39)	missense	probably damaging	1.00
R9553:Coro7	UTSW	16	4,486,624 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AGTCTGAAGGTCCCAGATGCGAAC -3'
(R):5'- TGCCTGACACAGCATTGCCTAC -3'

Sequencing Primer
(F):5'- TCCCAGATGCGAACGGTTAG -3'
(R):5'- TTGCCTACACTTCAGAATGGGAC -3'

Posted On

2013-10-16