Mutagenetix > Incidental Mutation

Incidental Mutation 'R9553:Coro7'

720633

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: 0.092) question?

Stock #

R9553 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4626133-4679777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4668760 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 183 (V183A)

Ref Sequence

ENSEMBL: ENSMUSP00000048489 (fasta)

Gene Model

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

AlphaFold

Q9D2V7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038552
AA Change: V183A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: V183A

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

possibly damaging
Transcript: ENSMUST00000090480
AA Change: V183A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000087966
Gene: ENSMUSG00000039637
AA Change: V183A

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

possibly damaging
Transcript: ENSMUST00000135823
AA Change: V183A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118310
Gene: ENSMUSG00000039637
AA Change: V183A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	C	T	7: 44,250,910	R80W	probably damaging	Het
Ankdd1b	G	T	13: 96,454,786	N68K	possibly damaging	Het
Arhgef1	A	G	7: 24,919,690	E452G	probably damaging	Het
Cbx8	T	G	11: 119,040,138	E45D	probably damaging	Het
Ceacam15	T	C	7: 16,673,391	Y67C	probably damaging	Het
Ceacam20	A	G	7: 19,990,001	Y570C	probably damaging	Het
Cnga4	A	G	7: 105,405,770	Y187C	probably damaging	Het
Cntrob	T	C	11: 69,314,853	N385S	probably benign	Het
Cyp2t4	G	A	7: 27,155,292	V66M	possibly damaging	Het
Dnah7b	A	G	1: 46,225,796	Y2150C	probably damaging	Het
E2f8	A	G	7: 48,878,646	S25P	probably damaging	Het
Eif3d	T	C	15: 77,959,637	E503G	probably damaging	Het
Elp6	T	A	9: 110,315,897	V157D	probably damaging	Het
Entpd3	T	C	9: 120,558,480	Y248H	probably damaging	Het
Fam186a	T	C	15: 99,946,680	E561G	unknown	Het
Fbxl13	C	T	5: 21,523,153	G519S	probably damaging	Het
Fgfr4	T	G	13: 55,161,415	S422A	probably damaging	Het
Flg2	G	A	3: 93,214,594	C1357Y	unknown	Het
Fpr3	T	A	17: 17,971,350	N294K	probably damaging	Het
Gas6	T	C	8: 13,475,048	Q312R	possibly damaging	Het
Glg1	C	T	8: 111,200,138	E182K	probably benign	Het
Gm5662	A	G	12: 88,271,706	Y95H	probably damaging	Het
Gm7534	G	A	4: 134,202,001	P331L	probably benign	Het
Gucy1b1	T	C	3: 82,039,780	D374G	probably damaging	Het
Ifrd2	C	T	9: 107,591,086	T251I	possibly damaging	Het
Igkv4-91	C	T	6: 68,768,648	G89R	possibly damaging	Het
Kcnk1	C	A	8: 126,029,583	Y281*	probably null	Het
Kcp	G	T	6: 29,485,101	F1217L	probably null	Het
Lama3	G	A	18: 12,429,962	G514D	probably damaging	Het
Madd	A	G	2: 91,178,455	L34P	probably damaging	Het
Mak	T	A	13: 41,030,119	T562S	probably benign	Het
Nfatc4	A	G	14: 55,832,802	E879G	probably damaging	Het
Olfr1137	A	T	2: 87,711,648	V86E	probably benign	Het
Pcdhb19	C	T	18: 37,498,795	R548C	probably damaging	Het
Peli2	A	G	14: 48,250,693	I165V	probably damaging	Het
Plekhd1	A	T	12: 80,707,203	M148L	probably benign	Het
Rars2	G	A	4: 34,637,014	G172R	probably damaging	Het
Reck	T	C	4: 43,928,310	V537A	probably damaging	Het
Rnf135	T	A	11: 80,183,932	S6T	probably benign	Het
Sirpb1a	C	T	3: 15,411,260	C226Y	probably damaging	Het
Speg	A	C	1: 75,418,001	I1785L	probably benign	Het
Spry4	T	C	18: 38,590,017	N231S	probably damaging	Het
Tchh	C	T	3: 93,447,818	Q1522*	probably null	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Trav7d-3	G	T	14: 52,744,363		probably benign	Het
Vmn2r49	A	C	7: 9,986,922	V214G	probably benign	Het
Vmn2r80	T	C	10: 79,148,909	Y32H	probably benign	Het
Vwf	A	C	6: 125,600,699	D501A		Het
Zfp428	A	G	7: 24,515,441	T161A	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
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

Predicted Primers

PCR Primer
(F):5'- GTGAACTTTCCTCAAGCCCC -3'
(R):5'- ATTGCTGCTGACTTTGCAAC -3'

Sequencing Primer
(F):5'- CCAGTCTGGTCTACAAAGTGAGTTC -3'
(R):5'- ACTTTGCAACTGGGGTTACC -3'

Posted On

2022-08-09