Mutagenetix > Incidental Mutation

Incidental Mutation 'R4723:Coro7'

354629

Institutional Source

Beutler Lab

Gene Symbol

Coro7

Ensembl Gene

ENSMUSG00000039637

Gene Name

coronin 7

Synonyms

0610011B16Rik

MMRRC Submission

041959-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R4723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4626133-4679777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4631994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 634 (Q634P)

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: Q634P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: Q634P

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

0.1903

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

94% (77/82)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932443I19Rik	A	T	8: 13,735,937	N69I	probably damaging	Het
Adgrv1	T	C	13: 81,433,525	D4800G	probably benign	Het
Akna	T	C	4: 63,387,032	D499G	probably benign	Het
Arid1b	A	C	17: 5,337,290	I1673L	probably benign	Het
Bcr	T	A	10: 75,175,329	M24K	probably benign	Het
Bsn	A	G	9: 108,112,655	V1966A	probably benign	Het
Ccdc39	T	C	3: 33,813,078	N928S	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdc6	G	A	11: 98,908,831		probably null	Het
Cmtm1	C	T	8: 104,293,675	A371T	probably damaging	Het
Cmtm7	A	C	9: 114,763,391	V46G	possibly damaging	Het
Cmtr1	A	G	17: 29,687,157		probably null	Het
Col5a3	T	C	9: 20,809,591	H149R	unknown	Het
Crym	A	G	7: 120,201,075		probably null	Het
Csmd3	A	T	15: 47,669,160	F2546L	probably benign	Het
Dmap1	T	C	4: 117,676,039	T273A	probably benign	Het
Dnah1	T	C	14: 31,272,942	Y2786C	probably damaging	Het
Echs1	A	C	7: 140,110,648		probably benign	Het
Edem3	T	A	1: 151,804,698	F525I	possibly damaging	Het
Exosc3	T	C	4: 45,319,642	I127V	probably benign	Het
Fam193a	A	G	5: 34,420,786	D208G	probably benign	Het
Farp2	T	C	1: 93,580,899	V773A	probably benign	Het
Gas6	A	G	8: 13,466,848	V550A	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm2423	A	G	13: 13,232,376		noncoding transcript	Het
Grin1	T	C	2: 25,294,470	S911G	probably benign	Het
Hkdc1	T	C	10: 62,400,354	I470V	probably benign	Het
Hsdl2	T	A	4: 59,593,270		probably benign	Het
Iars2	A	G	1: 185,315,979	Y519H	probably damaging	Het
Ikbkb	A	T	8: 22,669,607	M455K	probably benign	Het
Keap1	G	T	9: 21,231,410	H516Q	probably benign	Het
Klk1b27	A	T	7: 44,056,532	I220F	probably damaging	Het
Knop1	G	A	7: 118,855,864		probably benign	Het
Lhcgr	T	C	17: 88,742,602	T499A	probably benign	Het
Lrch3	A	T	16: 32,988,484		probably null	Het
Lrrc2	G	A	9: 110,970,160		probably null	Het
Lrrk2	T	C	15: 91,764,759	L1652P	probably damaging	Het
Mbl1	T	C	14: 41,154,558	V71A	possibly damaging	Het
Med8	T	A	4: 118,411,801	M1K	probably null	Het
Mfsd2b	A	G	12: 4,868,992	L88P	probably benign	Het
Mkrn2	T	A	6: 115,611,850	C185S	probably damaging	Het
Myo1d	A	G	11: 80,779,841		probably benign	Het
Napg	T	G	18: 62,992,492		probably null	Het
Ncor1	A	G	11: 62,378,612	M253T	probably benign	Het
Oas3	T	C	5: 120,766,256	T518A	unknown	Het
Obox3-ps8	A	G	17: 36,453,144		noncoding transcript	Het
Olfr519	A	T	7: 108,893,821	F195L	probably benign	Het
Olfr656	T	C	7: 104,618,489	V270A	possibly damaging	Het
Olfr71	T	C	4: 43,705,785	K261R	probably damaging	Het
Opn5	A	T	17: 42,607,200	M57K	probably damaging	Het
Pde2a	C	G	7: 101,494,618	P148R	possibly damaging	Het
Prss56	C	T	1: 87,185,337	L158F	possibly damaging	Het
Psmg3	G	A	5: 139,826,370		probably benign	Het
Rnase9	C	T	14: 51,039,444	G26R	probably damaging	Het
Skint4	T	C	4: 112,118,236	V131A	possibly damaging	Het
Slc10a4	T	A	5: 73,012,055	V341E	probably damaging	Het
Slc16a14	T	C	1: 84,913,020	Y188C	probably damaging	Het
Slc7a1	G	T	5: 148,335,440	P476T	probably damaging	Het
Smchd1	A	T	17: 71,436,747	C474*	probably null	Het
Smurf1	A	T	5: 144,893,184	D336E	probably damaging	Het
Sox30	G	A	11: 45,984,765	S448N	probably benign	Het
Spag11a	G	A	8: 19,159,382	V63I	possibly damaging	Het
Sprr1b	T	G	3: 92,437,293	K92T	probably damaging	Het
Stam2	T	C	2: 52,720,950	Y20C	probably benign	Het
Sult2b1	T	A	7: 45,742,065	Y97F	probably damaging	Het
Tecpr2	C	T	12: 110,932,976	P593S	probably benign	Het
Tek	T	C	4: 94,799,160	V170A	possibly damaging	Het
Tiam2	A	G	17: 3,450,317	Y891C	probably benign	Het
Tmem220	A	G	11: 67,029,993	T75A	possibly damaging	Het
Traf3	T	G	12: 111,262,036	D560E	probably damaging	Het
Txlnb	A	G	10: 17,799,267	H56R	probably benign	Het
Vmn2r98	A	T	17: 19,066,340	N367Y	probably benign	Het
Vnn3	A	G	10: 23,851,691	I36M	possibly damaging	Het
Zbtb7a	G	A	10: 81,144,440	R156H	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
R4638:Coro7	UTSW	16	4632287	missense	probably damaging	0.96
R4710:Coro7	UTSW	16	4634933	intron	probably benign
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'- GGGCTGTAGACCCTAACTTTG -3'
(R):5'- AGTGGCTTCTCAAGGACTCAAC -3'

Sequencing Primer
(F):5'- CAGATCAAGCATGCTTACCTGTAGG -3'
(R):5'- GGACTCAACATCACTTCCTGG -3'

Posted On

2015-10-21