Mutagenetix > Incidental Mutation

Incidental Mutation 'R4638:Coro7'

350807

Institutional Source

Beutler Lab

Gene Symbol

Coro7

Ensembl Gene

ENSMUSG00000039637

Gene Name

coronin 7

Synonyms

0610011B16Rik

MMRRC Submission

041900-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R4638 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

4626133-4679777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4632287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 566 (I566N)

Ref Sequence

ENSEMBL: ENSMUSP00000048489 (fasta)

Gene Model

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

AlphaFold

Q9D2V7

Predicted Effect

probably damaging
Transcript: ENSMUST00000038552
AA Change: I566N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: I566N

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

0.9261

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

91% (40/44)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,691,941	D155G	probably damaging	Het
Ano4	C	T	10: 88,954,697	A847T	probably damaging	Het
B4galt7	T	C	13: 55,600,146		probably benign	Het
Camk1g	T	A	1: 193,356,359	D85V	probably damaging	Het
Caskin1	G	A	17: 24,506,628	S1296N	probably benign	Het
Cebpa	A	G	7: 35,120,262	N282D	probably damaging	Het
Cngb1	G	A	8: 95,266,019	T196M	probably damaging	Het
Cobll1	T	C	2: 65,099,237	M619V	probably benign	Het
Dpyd	A	T	3: 119,266,077	S808C	probably benign	Het
Fbn2	A	G	18: 58,010,304	V2893A	probably benign	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Krba1	T	A	6: 48,409,751	L441*	probably null	Het
Lama5	T	C	2: 180,190,413	T1712A	possibly damaging	Het
Lnpep	G	A	17: 17,575,307	T314I	probably damaging	Het
Lyst	T	C	13: 13,696,794		probably null	Het
Naa16	C	A	14: 79,340,033		probably null	Het
Nek7	A	T	1: 138,544,300	F34Y	probably benign	Het
Olfr1126	T	C	2: 87,457,983	S273P	possibly damaging	Het
Olfr699	A	T	7: 106,790,998	M1K	probably null	Het
Park7	G	A	4: 150,907,099	Q45*	probably null	Het
Pclo	C	A	5: 14,680,433	S2983*	probably null	Het
Pth1r	A	G	9: 110,727,073	L244P	possibly damaging	Het
Pyroxd1	C	G	6: 142,354,741	S199*	probably null	Het
Slc11a1	G	A	1: 74,375,278		probably benign	Het
Slc12a8	T	G	16: 33,590,323	S200A	possibly damaging	Het
Slc7a10	A	G	7: 35,197,930	E262G	probably damaging	Het
Smg1	T	C	7: 118,195,926		probably benign	Het
Snapc4	A	G	2: 26,365,302	L1070P	probably damaging	Het
Sp2	A	G	11: 96,957,474	I435T	possibly damaging	Het
Srp72	A	G	5: 76,990,295	E309G	probably benign	Het
Sympk	G	T	7: 19,043,460	R545L	possibly damaging	Het
Tie1	C	T	4: 118,483,842	R314H	probably benign	Het
Tmem198	G	T	1: 75,479,707	G2*	probably null	Het
Tmem81	A	G	1: 132,508,205		probably benign	Het
Ttn	A	T	2: 76,822,477	V10938E	possibly damaging	Het
Zfp773	T	A	7: 7,135,336	Y100F	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
R3034:Coro7	UTSW	16	4632291	missense	probably damaging	0.99
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
R8726:Coro7	UTSW	16	4668755	missense	possibly damaging	0.95
R8762:Coro7	UTSW	16	4634339	missense	probably benign
R9383:Coro7	UTSW	16	4635024	missense	probably damaging	1.00
R9451:Coro7	UTSW	16	4670538	missense	probably damaging	1.00
R9553:Coro7	UTSW	16	4668760	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TCCCAGATGCGAACGGTTAG -3'
(R):5'- GACAGCTGTAATGGATCTGGTCTG -3'

Sequencing Primer
(F):5'- AGCGCAGAGAGTAGATCTTTTC -3'
(R):5'- GGTCTGGGATCCCTTTGACC -3'

Posted On

2015-10-08