Mutagenetix > Incidental Mutation

Incidental Mutation 'R9451:Coro7'

714285

Institutional Source

Beutler Lab

Gene Symbol

Coro7

Ensembl Gene

ENSMUSG00000039637

Gene Name

coronin 7

Synonyms

0610011B16Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4626133-4679777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4670538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 89 (D89E)

Ref Sequence

ENSEMBL: ENSMUSP00000048489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038552] [ENSMUST00000090480] [ENSMUST00000135823]

AlphaFold

Q9D2V7

Predicted Effect

probably damaging
Transcript: ENSMUST00000038552
AA Change: D89E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: D89E

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

probably damaging
Transcript: ENSMUST00000090480
AA Change: D89E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087966
Gene: ENSMUSG00000039637
AA Change: D89E

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

probably damaging
Transcript: ENSMUST00000135823
AA Change: D89E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118310
Gene: ENSMUSG00000039637
AA Change: D89E

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

Meta Mutation Damage Score

0.2095

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	G	17: 23,717,213	Y19H	unknown	Het
Aldh8a1	T	A	10: 21,389,133	S220T	probably benign	Het
Ankrd66	A	G	17: 43,534,920	V192A	probably benign	Het
Atp1a2	A	G	1: 172,275,927	Y1009H	probably benign	Het
BC005561	C	A	5: 104,520,778	S1055R	probably benign	Het
Bptf	A	C	11: 107,044,585	M142R	probably damaging	Het
Brwd1	C	T	16: 96,044,503	R740Q	probably damaging	Het
C3	A	G	17: 57,224,169	M339T	probably benign	Het
Catsperg1	A	G	7: 29,198,347		probably null	Het
Cep295nl	T	A	11: 118,333,620	K133*	probably null	Het
Copg2	A	T	6: 30,816,851		probably benign	Het
Cyp2t4	G	A	7: 27,155,292	V66M	possibly damaging	Het
Ddx54	G	T	5: 120,627,144	R826L	probably damaging	Het
Dlg4	G	T	11: 70,031,239	K162N	probably damaging	Het
Dna2	T	A	10: 62,954,293	L185H	probably benign	Het
Dock9	C	T	14: 121,550,189		probably benign	Het
Efcab8	G	C	2: 153,804,941	V397L	unknown	Het
Etl4	A	G	2: 20,809,115	I1322V	probably benign	Het
Exd1	T	C	2: 119,524,583	K284E	possibly damaging	Het
Flnc	A	G	6: 29,445,463	T786A	probably damaging	Het
Gm21671	T	A	5: 25,951,571	K137*	probably null	Het
Gm29106	A	C	1: 118,199,914	E445D	possibly damaging	Het
Gm5592	T	C	7: 41,286,452	L126P	probably damaging	Het
Gtf3c2	T	G	5: 31,168,429	T389P	probably damaging	Het
Hhipl1	C	A	12: 108,327,841	R669S	probably benign	Het
Hivep1	A	G	13: 42,183,776	T2444A	probably benign	Het
Hspg2	A	G	4: 137,511,069	E289G	probably damaging	Het
Htatip2	C	A	7: 49,759,239	T9K	unknown	Het
Ifngr1	T	C	10: 19,607,293	V265A	possibly damaging	Het
Ift140	A	G	17: 25,033,951	N359D	probably benign	Het
Mat1a	A	G	14: 41,114,846	R178G	probably damaging	Het
Mknk2	C	T	10: 80,669,662	R154H	probably benign	Het
Myh14	C	T	7: 44,624,319		probably null	Het
Myof	A	G	19: 37,977,648		probably null	Het
Nfe2l1	G	T	11: 96,827,627	D27E	probably damaging	Het
Olfr1234	A	T	2: 89,362,899	C177S	probably damaging	Het
Olfr1301	T	C	2: 111,754,873	V208A	probably benign	Het
Olfr1378	A	G	11: 50,969,123	Y35C		Het
Olfr284	A	G	15: 98,340,263	V242A	possibly damaging	Het
Olfr485	A	G	7: 108,159,261	V204A	probably benign	Het
Plec	C	A	15: 76,183,787	Q1139H	unknown	Het
Plxna2	T	A	1: 194,644,384	S209T	probably benign	Het
Plxnd1	T	C	6: 115,963,316	E1369G	possibly damaging	Het
Psd3	T	C	8: 67,910,835	I3V	unknown	Het
Pwp1	T	A	10: 85,878,564	F195L	probably damaging	Het
Rab3ip	C	T	10: 116,939,449	M1I	probably null	Het
Rad54l2	T	C	9: 106,708,289	K759R	probably benign	Het
Rims2	G	T	15: 39,437,328	V344L	probably damaging	Het
Robo1	G	A	16: 73,006,830	R1088Q	probably benign	Het
Rtf2	A	G	2: 172,440,825		probably benign	Het
Serhl	A	C	15: 83,102,966	K131N	possibly damaging	Het
Sidt1	T	A	16: 44,255,029		probably null	Het
Slc27a1	T	A	8: 71,580,164	Y248*	probably null	Het
Slitrk3	T	A	3: 73,051,283	E52V	possibly damaging	Het
Snx2	T	C	18: 53,210,343	V271A	probably benign	Het
Snx9	C	A	17: 5,899,493	P156Q	probably damaging	Het
Spag6	C	A	2: 18,710,558	Y71*	probably null	Het
Speg	A	G	1: 75,417,733	D1724G	probably damaging	Het
Svs1	A	G	6: 48,988,840	Y594C	probably damaging	Het
Syt7	A	G	19: 10,444,168	N572S	probably damaging	Het
Ticam2	A	G	18: 46,560,699	I107T	probably damaging	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tmem268	G	A	4: 63,570,019	V135M	probably benign	Het
Toporsl	A	G	4: 52,611,663	T519A	possibly damaging	Het
Trim43b	G	A	9: 89,091,555	L42F	possibly damaging	Het
Ttf2	A	C	3: 100,944,773	V1019G	probably damaging	Het
Ugt3a1	A	G	15: 9,292,072	D97G	probably benign	Het
Uncx	A	G	5: 139,546,720	N180S	probably damaging	Het
Vmn2r23	A	G	6: 123,733,393	T552A	probably damaging	Het
Vmn2r51	A	T	7: 10,099,889	H407Q	probably damaging	Het
Wdfy4	C	T	14: 33,133,561	E699K		Het
Wdr95	A	G	5: 149,580,700	T324A	probably benign	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
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
R9553:Coro7	UTSW	16	4668760	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TAAGGGCAGATCACAACAGC -3'
(R):5'- GTGTCTAGAAAGAATGTGGCTTC -3'

Sequencing Primer
(F):5'- CAGCAGCTCTGAGAAGGCAC -3'
(R):5'- CCTGATCTACAAAGTGAGTTCCAGG -3'

Posted On

2022-06-15