Mutagenetix > Incidental Mutation

Incidental Mutation 'R0022:Coro7'

64806

Institutional Source

Beutler Lab

Gene Symbol

Coro7

Ensembl Gene

ENSMUSG00000039637

Gene Name

coronin 7

Synonyms

0610011B16Rik

MMRRC Submission

038317-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R0022 (G1)

Quality Score

116

Status

Validated

Chromosome

Chromosomal Location

4626133-4679777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4633304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 507 (R507H)

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: R507H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: R507H

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

0.0621

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.8%

Validation Efficiency

100% (68/68)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	T	1: 37,628,245	R240Q	probably damaging	Het
2310035C23Rik	T	A	1: 105,691,902		probably benign	Het
Agl	A	T	3: 116,793,836		probably null	Het
Arhgap29	G	A	3: 121,988,937	V91I	possibly damaging	Het
Aste1	T	A	9: 105,396,624	L21*	probably null	Het
Bpifb5	A	T	2: 154,230,348	D325V	probably damaging	Het
Btbd10	G	A	7: 113,325,781	Q287*	probably null	Het
Cdc20	T	A	4: 118,435,489	H354L	probably damaging	Het
Cdhr3	G	A	12: 33,082,264	T120I	probably damaging	Het
Col5a2	G	A	1: 45,383,683	R1125*	probably null	Het
Col9a3	A	G	2: 180,619,756	D613G	probably damaging	Het
Crebbp	A	T	16: 4,085,228	V2049E	probably damaging	Het
Cryga	T	C	1: 65,103,223	I4V	probably damaging	Het
D930020B18Rik	A	G	10: 121,671,770	T138A	probably damaging	Het
Dclre1b	G	T	3: 103,803,148	H482Q	probably benign	Het
Dpy19l2	A	G	9: 24,696,124	S14P	probably benign	Het
Elavl3	C	A	9: 22,036,871		probably benign	Het
Ephb6	T	C	6: 41,614,569	V220A	probably damaging	Het
Exoc7	A	T	11: 116,297,582	I297N	possibly damaging	Het
Gdpd4	A	T	7: 97,982,875	N332Y	probably damaging	Het
Ggct	C	A	6: 54,985,902	E175*	probably null	Het
Gm5316	T	C	6: 122,900,395		noncoding transcript	Het
Hoxa7	T	C	6: 52,217,383	N8S	probably damaging	Het
Ifi208	A	G	1: 173,683,046	T256A	possibly damaging	Het
Il12rb2	A	G	6: 67,298,919	F630S	probably damaging	Het
Kit	A	G	5: 75,622,997	N378S	probably benign	Het
Lmntd1	T	A	6: 145,429,990	Y74F	probably benign	Het
Lrp1b	A	T	2: 40,998,038		probably benign	Het
Ltbp1	T	A	17: 75,364,360	V1194D	probably damaging	Het
Mc5r	T	G	18: 68,338,782	S71A	probably benign	Het
Mcm7	T	C	5: 138,164,719	*390W	probably null	Het
Myo18a	T	C	11: 77,843,233		probably null	Het
Naa25	C	A	5: 121,417,976	L276M	probably damaging	Het
Nlrp1a	T	G	11: 71,123,381	T348P	probably damaging	Het
Nlrp1b	T	G	11: 71,161,929	K888T	possibly damaging	Het
Olfr1276	A	G	2: 111,257,649	Y178C	probably benign	Het
Pabpc6	A	T	17: 9,669,216	N135K	probably benign	Het
Pdzd2	G	A	15: 12,371,605	A2568V	possibly damaging	Het
Pik3r2	A	G	8: 70,770,901	F346S	probably damaging	Het
Pkd1	T	C	17: 24,594,819	W4086R	probably damaging	Het
Plekhb2	G	A	1: 34,866,239		probably benign	Het
Plxnb2	A	G	15: 89,163,276		probably null	Het
Pmfbp1	C	T	8: 109,525,407	R395W	probably damaging	Het
Pnldc1	A	G	17: 12,890,119	Y497H	probably damaging	Het
Ppp1ca	T	G	19: 4,194,581	V213G	possibly damaging	Het
Rapgef2	G	A	3: 79,087,900	R814C	probably damaging	Het
Rnasel	A	T	1: 153,760,775	I634F	probably damaging	Het
Rnf157	A	T	11: 116,349,450		probably benign	Het
Ryr3	A	G	2: 112,640,666	S4567P	probably damaging	Het
Smcr8	T	A	11: 60,780,359	W778R	probably damaging	Het
Stat1	T	A	1: 52,140,630	L333Q	probably damaging	Het
Strc	A	G	2: 121,368,393	L1391P	probably damaging	Het
Tek	G	A	4: 94,837,272	V592M	probably damaging	Het
Top1	A	C	2: 160,702,799	K278N	possibly damaging	Het
Utrn	C	T	10: 12,709,956		probably benign	Het
Wdr7	T	C	18: 63,777,634	I699T	probably damaging	Het
Zfp30	A	G	7: 29,792,435	E119G	possibly 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
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
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
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'- TGCATGGTCTGTGCTCAGTGACTC -3'
(R):5'- TAGAGACTAGCCCAGACTTGTGCC -3'

Sequencing Primer
(F):5'- TCAGTGACTCGGGGTAGAC -3'
(R):5'- ACGTGGGCAAGCTTCTTAGAC -3'

Posted On

2013-08-06