Mutagenetix > Incidental Mutation

Incidental Mutation 'R1939:Coro7'

213853

Institutional Source

Beutler Lab

Gene Symbol

Coro7

Ensembl Gene

ENSMUSG00000039637

Gene Name

coronin 7

Synonyms

0610011B16Rik

MMRRC Submission

039957-MU

Accession Numbers

Essential gene?

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

Stock #

R1939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4626133-4679777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4628732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 843 (E843G)

Ref Sequence

ENSEMBL: ENSMUSP00000048489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014445] [ENSMUST00000038552] [ENSMUST00000135823] [ENSMUST00000156889]

AlphaFold

Q9D2V7

Predicted Effect

probably benign
Transcript: ENSMUST00000014445

SMART Domains

Protein: ENSMUSP00000014445
Gene: ENSMUSG00000014301

Domain	Start	End	E-Value	Type
Pfam:Pam16	1	125	4.9e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038552
AA Change: E843G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: E843G

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: ENSMUST00000127120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127125

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229767

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	A	11: 83,440,304	W11R	probably damaging	Het
2700049A03Rik	A	G	12: 71,160,412		probably null	Het
3110002H16Rik	T	C	18: 12,180,505	L15P	probably damaging	Het
4933409G03Rik	T	C	2: 68,588,984	S26P	possibly damaging	Het
9930021J03Rik	A	G	19: 29,753,677	F712S	possibly damaging	Het
Ace2	A	T	X: 164,156,528	M123L	possibly damaging	Het
Acot3	A	G	12: 84,058,551	N264S	probably benign	Het
Acvr1c	A	T	2: 58,283,505	N248K	probably damaging	Het
Adam22	A	T	5: 8,330,015	F94L	probably damaging	Het
Adarb2	T	C	13: 8,203,322		probably null	Het
Aldh1b1	A	G	4: 45,802,755	M98V	possibly damaging	Het
Arfgef2	T	A	2: 166,873,628	V1331D	probably damaging	Het
Atf2	G	A	2: 73,846,219	P184S	probably damaging	Het
Atp8b3	A	T	10: 80,525,386	C785*	probably null	Het
Birc6	T	C	17: 74,670,337	S4362P	probably damaging	Het
Chn1	A	G	2: 73,624,901	C39R	probably damaging	Het
Cngb1	C	A	8: 95,299,692	G154W	probably damaging	Het
Cntnap5b	A	G	1: 99,967,348	H115R	probably benign	Het
Col23a1	A	G	11: 51,551,989	D159G	unknown	Het
Dnase2a	G	T	8: 84,910,895	A309S	possibly damaging	Het
Dync2h1	A	G	9: 7,139,159		probably null	Het
Engase	T	A	11: 118,479,186	N97K	probably damaging	Het
Fam83b	A	T	9: 76,493,080	M247K	probably damaging	Het
Fer	T	C	17: 63,973,128	S65P	probably damaging	Het
Fgf10	A	G	13: 118,789,152	R156G	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm5415	T	C	1: 32,545,546	I428V	probably damaging	Het
Gm904	T	C	13: 50,644,736		probably null	Het
Gpat2	T	A	2: 127,435,959	*802K	probably null	Het
Hcfc2	G	T	10: 82,702,450	R107L	probably damaging	Het
Itga8	T	G	2: 12,300,846	D111A	probably damaging	Het
Jag1	C	G	2: 137,083,473	V1070L	possibly damaging	Het
Lama5	T	C	2: 180,190,921	N1646S	probably benign	Het
Lgals8	T	G	13: 12,459,188	I10L	probably benign	Het
Lrp1b	A	G	2: 40,697,589	S116P	unknown	Het
Mcpt1	A	T	14: 56,019,089	K94I	possibly damaging	Het
Mpnd	T	C	17: 56,015,920	F384S	probably damaging	Het
Mrgprb5	A	T	7: 48,168,938	N16K	probably benign	Het
Myo15b	A	G	11: 115,887,703	T1139A	probably benign	Het
Nat8f5	A	C	6: 85,817,819	I53R	possibly damaging	Het
Nav1	A	T	1: 135,465,898	L1034Q	probably damaging	Het
Nudt6	T	C	3: 37,405,230	Y54C	probably damaging	Het
Olfr1404	G	T	1: 173,215,932	A94S	probably benign	Het
Olfr482	A	G	7: 108,095,141	V143A	probably benign	Het
Olfr815	A	C	10: 129,902,101	M203R	probably damaging	Het
Olfr881	A	G	9: 37,993,089	N199S	probably benign	Het
Olfr893	T	A	9: 38,209,429	Y72*	probably null	Het
Osbpl8	A	T	10: 111,289,811	H784L	probably benign	Het
Osr1	T	G	12: 9,579,687	S187A	probably damaging	Het
Pcdhgc5	A	G	18: 37,821,950	Y759C	probably damaging	Het
Pkd1l2	G	T	8: 117,046,182	Y1035*	probably null	Het
Pla2g15	A	G	8: 106,163,295	T400A	probably damaging	Het
Pms1	A	C	1: 53,196,976	L715R	probably damaging	Het
Prkd1	T	C	12: 50,394,994	N254S	probably benign	Het
Prkdc	T	C	16: 15,835,913	V3868A	possibly damaging	Het
Ptprt	T	C	2: 161,927,640	N435S	probably benign	Het
Purb	T	C	11: 6,474,943	E315G	unknown	Het
Rap1b	A	T	10: 117,818,586	N116K	probably damaging	Het
Rp1l1	A	G	14: 64,029,593	N876S	probably benign	Het
Rps6ka4	T	A	19: 6,839,466	I114F	probably damaging	Het
Sh3bp2	A	G	5: 34,551,619	N19D	probably damaging	Het
Slc16a4	A	G	3: 107,301,001	M276V	probably benign	Het
Slc17a1	A	G	13: 23,875,881	T172A	probably benign	Het
Slc4a7	C	T	14: 14,748,581	A320V	probably damaging	Het
Slco1a6	T	A	6: 142,133,230	Y113F	probably damaging	Het
Srsf6	C	T	2: 162,934,483		probably benign	Het
St3gal6	A	T	16: 58,473,561		probably null	Het
Tdp2	A	G	13: 24,841,277	D343G	probably benign	Het
Tecpr2	T	A	12: 110,933,169	L657Q	probably damaging	Het
Tet2	T	C	3: 133,488,638	T12A	possibly damaging	Het
Trappc6a	T	A	7: 19,514,501	F28I	probably damaging	Het
Trim32	G	A	4: 65,614,066	V287I	probably benign	Het
Trpd52l3	T	C	19: 30,003,889	S15P	probably damaging	Het
Tsnaxip1	A	G	8: 105,840,038	I169V	probably benign	Het
Ttc34	G	A	4: 154,865,682	A1031T	possibly damaging	Het
Ttll11	T	A	2: 35,940,753	Q18L	probably null	Het
Ttll8	A	T	15: 88,915,486	I584N	probably damaging	Het
Ubiad1	A	G	4: 148,444,011	L147P	probably damaging	Het
Ucp3	T	C	7: 100,480,664	V171A	probably benign	Het
Vmn1r174	T	A	7: 23,754,107	I66N	probably damaging	Het
Vmn2r13	T	C	5: 109,191,986	D41G	possibly damaging	Het
Vmn2r4	T	C	3: 64,398,555	D393G	probably benign	Het
Wipf2	C	T	11: 98,892,410	R221*	probably null	Het
Zfp976	C	A	7: 42,613,681	C244F	unknown	Het
Zmym5	A	G	14: 56,799,120	V190A	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
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'- AGAACTTGCTCTCCAGGGGTTC -3'
(R):5'- GCATGTGAATGCCAGCATGG -3'

Sequencing Primer
(F):5'- GGTCTGGAGACATGTCTAACATCC -3'
(R):5'- ATGGGTGGGGCCAGGTC -3'

Posted On

2014-07-14