Mutagenetix > Incidental Mutations

Incidental Mutation 'R3034:Coro7'

264801

Institutional Source

Beutler Lab

Gene Symbol

Coro7

Ensembl Gene

ENSMUSG00000039637

Gene Name

coronin 7

Synonyms

0610011B16Rik

MMRRC Submission

040550-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R3034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4626133-4679777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4632291 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 565 (R565W)

Ref Sequence

ENSEMBL: ENSMUSP00000048489 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000038552
AA Change: R565W

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: R565W

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: ENSMUST00000150724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151156

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (44/44)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	T	C	11: 70,316,253	I576V	probably benign	Het
Apol7a	T	G	15: 77,389,723	I180L	probably benign	Het
Aptx	T	C	4: 40,694,994	N114S	probably benign	Het
Cd40	T	A	2: 165,062,315	S65R	probably benign	Het
Cdh23	C	T	10: 60,409,010		probably benign	Het
Cpt1a	C	T	19: 3,378,390	T588M	probably damaging	Het
Defb23	A	G	2: 152,459,269	S128P	possibly damaging	Het
Dgki	G	A	6: 37,087,670	H250Y	probably damaging	Het
Fgr	T	C	4: 132,998,496		probably null	Het
Fkbp15	T	C	4: 62,306,892		probably null	Het
Gpr137c	C	T	14: 45,220,276	S95L	probably damaging	Het
Kirrel	T	C	3: 87,083,439	D692G	possibly damaging	Het
Krt1	C	A	15: 101,850,633	R32L	unknown	Het
Lama2	C	T	10: 27,001,235	E2652K	probably benign	Het
Mbl1	C	A	14: 41,158,833	S226Y	probably damaging	Het
Mrps28	T	A	3: 8,923,615	D61V	probably benign	Het
Mthfd1	A	G	12: 76,289,470	K299E	probably benign	Het
Myo1b	A	G	1: 51,773,247	Y738H	possibly damaging	Het
Myo5c	A	G	9: 75,286,577	T1205A	probably benign	Het
Nfatc2	C	T	2: 168,535,020	G317S	probably damaging	Het
Nln	C	T	13: 104,037,439	V525I	possibly damaging	Het
Nrap	T	C	19: 56,364,005	E549G	probably damaging	Het
Nwd2	T	A	5: 63,800,103	Y259N	probably damaging	Het
Oas3	T	C	5: 120,771,056	D275G	probably damaging	Het
Olfr294	A	T	7: 86,615,762	D294E	possibly damaging	Het
Ovch2	A	G	7: 107,785,492	S473P	probably damaging	Het
Pde8b	T	A	13: 95,222,767	Y16F	probably damaging	Het
Pmfbp1	A	T	8: 109,520,921		probably null	Het
Pmvk	T	C	3: 89,468,517	V74A	probably damaging	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rbm26	T	A	14: 105,153,445	T202S	unknown	Het
Rheb	C	T	5: 24,803,723	E166K	probably damaging	Het
Rnf5	A	G	17: 34,603,358	V39A	possibly damaging	Het
Scn7a	T	C	2: 66,682,808	Y1168C	probably damaging	Het
Tas2r114	A	G	6: 131,689,648	I139T	probably benign	Het
Tma7	T	C	9: 109,082,206		probably benign	Het
Tmem181a	T	A	17: 6,280,626	S13T	possibly damaging	Het
Tmem62	C	T	2: 120,979,124		probably benign	Het
Trim71	T	C	9: 114,512,844	D790G	probably damaging	Het
Trp53tg5	T	C	2: 164,471,299	K152R	probably benign	Het
Uhrf1bp1	T	A	17: 27,894,746	D1297E	probably damaging	Het
Zdbf2	C	A	1: 63,304,205	A581E	probably damaging	Het

Other mutations in Coro7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Coro7	APN	16	4634636	missense	possibly damaging	0.83
IGL00885:Coro7	APN	16	4635026	missense	probably benign	0.00
IGL02944:Coro7	APN	16	4635412	missense	probably benign	0.14
IGL03104:Coro7	APN	16	4629126	missense	probably damaging	1.00
IGL03153:Coro7	APN	16	4635382	critical splice donor site	probably null
R0022:Coro7	UTSW	16	4633304	missense	probably benign	0.01
R0022:Coro7	UTSW	16	4633304	missense	probably benign	0.01
R0071:Coro7	UTSW	16	4670527	missense	probably damaging	1.00
R0071:Coro7	UTSW	16	4670527	missense	probably damaging	1.00
R0080:Coro7	UTSW	16	4630464	missense	probably damaging	1.00
R0193:Coro7	UTSW	16	4627504	unclassified	probably benign
R0242:Coro7	UTSW	16	4630178	splice site	probably benign
R0318:Coro7	UTSW	16	4675807	missense	probably benign	0.09
R0554:Coro7	UTSW	16	4632257	missense	possibly damaging	0.63
R0666:Coro7	UTSW	16	4631911	missense	possibly damaging	0.70
R0835:Coro7	UTSW	16	4632254	missense	probably benign	0.12
R0968:Coro7	UTSW	16	4670055	splice site	probably benign
R1670:Coro7	UTSW	16	4628233	missense	possibly damaging	0.76
R1709:Coro7	UTSW	16	4634441	splice site	probably null
R1848:Coro7	UTSW	16	4630434	missense	probably damaging	0.99
R1884:Coro7	UTSW	16	4628819	unclassified	probably benign
R1935:Coro7	UTSW	16	4628732	missense	probably benign
R1937:Coro7	UTSW	16	4628732	missense	probably benign
R1939:Coro7	UTSW	16	4628732	missense	probably benign
R1967:Coro7	UTSW	16	4634889	missense	probably damaging	1.00
R1969:Coro7	UTSW	16	4633756	missense	probably benign	0.19
R1970:Coro7	UTSW	16	4633756	missense	probably benign	0.19
R4638:Coro7	UTSW	16	4632287	missense	probably damaging	0.96
R4710:Coro7	UTSW	16	4634933	intron	probably benign
R4723:Coro7	UTSW	16	4631994	missense	probably benign	0.00
R4789:Coro7	UTSW	16	4628221	missense	probably damaging	1.00
R5493:Coro7	UTSW	16	4632487	missense	probably damaging	0.99
R5619:Coro7	UTSW	16	4676935	critical splice donor site	probably null
R5756:Coro7	UTSW	16	4632284	missense	probably damaging	0.97
R5974:Coro7	UTSW	16	4631889	missense	possibly damaging	0.83
R6010:Coro7	UTSW	16	4669956	missense	possibly damaging	0.68
R6038:Coro7	UTSW	16	4679550	critical splice donor site	probably null
R6038:Coro7	UTSW	16	4679550	critical splice donor site	probably null
R6906:Coro7	UTSW	16	4633304	missense	probably benign	0.00
R6925:Coro7	UTSW	16	4628674	critical splice donor site	probably null
R7069:Coro7	UTSW	16	4679611	start codon destroyed	probably damaging	0.99
R7326:Coro7	UTSW	16	4632048	missense	probably damaging	0.96
R7421:Coro7	UTSW	16	4668751	missense	probably benign	0.19
R7521:Coro7	UTSW	16	4631482	missense	probably benign	0.00
R7773:Coro7	UTSW	16	4632006	missense	probably damaging	1.00
R7846:Coro7	UTSW	16	4670536	missense	probably damaging	1.00
R8240:Coro7	UTSW	16	4668796	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GAAGCGCAGAGAGTAGATCTTTTC -3'
(R):5'- GACACAGCATTGCCTACACTTC -3'

Sequencing Primer
(F):5'- CAGAGAGTAGATCTTTTCTGTGTGGC -3'
(R):5'- TGCCTACACTTCAGAATGGG -3'

Posted On

2015-02-05