Mutagenetix > Incidental Mutations

Incidental Mutation 'R7421:Coro7'

575693

Institutional Source

Beutler Lab

Gene Symbol

Coro7

Ensembl Gene

ENSMUSG00000039637

Gene Name

coronin 7

Synonyms

0610011B16Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7421 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4626133-4679777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4668751 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 186 (A186E)

Ref Sequence

ENSEMBL: ENSMUSP00000048489 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000038552
AA Change: A186E

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: A186E

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: A186E

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000087966
Gene: ENSMUSG00000039637
AA Change: A186E

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: A186E

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118310
Gene: ENSMUSG00000039637
AA Change: A186E

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	C	2: 156,555,995	I309T	possibly damaging	Het
Abca12	A	C	1: 71,247,136	L2513*	probably null	Het
Abca13	G	C	11: 9,510,463	V4158L	probably benign	Het
Acaca	A	G	11: 84,363,736	T1880A	possibly damaging	Het
Arhgap5	C	T	12: 52,518,000	R585C	probably benign	Het
Arsk	A	C	13: 76,062,515	I471S	possibly damaging	Het
Asb7	T	C	7: 66,660,120	D116G	probably damaging	Het
Atad2	A	G	15: 58,134,926	S17P	probably benign	Het
Atf5	T	C	7: 44,815,138	E10G	probably damaging	Het
B3gntl1	G	T	11: 121,624,178	P255T	probably benign	Het
Cacna1s	A	G	1: 136,086,802	N649S	probably damaging	Het
Ccnc	A	G	4: 21,743,291	Y192C	probably damaging	Het
Cd28	A	G	1: 60,763,300	N126S	probably benign	Het
Cep57	A	G	9: 13,810,673	S360P	possibly damaging	Het
Ces1e	C	T	8: 93,215,075	V257I	probably benign	Het
Chd1	A	G	17: 15,749,398	K913R	probably benign	Het
Cluap1	A	T	16: 3,940,793	D373V	probably damaging	Het
Cnmd	T	C	14: 79,645,507	I160V	probably benign	Het
Col6a4	G	A	9: 106,020,795	P1686S	probably damaging	Het
Cuta	T	C	17: 26,939,457		probably benign	Het
Dnah2	G	A	11: 69,492,805	H1098Y	probably benign	Het
Duox1	T	A	2: 122,323,230	C345S	probably damaging	Het
Ephb4	T	A	5: 137,354,425	I90K	possibly damaging	Het
Erich3	T	A	3: 154,733,561	M280K	probably damaging	Het
Fcer2a	T	A	8: 3,690,335	H4L	probably benign	Het
Grk1	A	T	8: 13,405,316	I67F	probably damaging	Het
Grm8	A	C	6: 27,762,477	S250A	possibly damaging	Het
H2-Q6	A	G	17: 35,425,228	E62G	possibly damaging	Het
Inppl1	C	T	7: 101,832,937	R144H	probably damaging	Het
Itga3	G	T	11: 95,068,855	P33Q	probably benign	Het
Itgax	G	A	7: 128,140,432	S672N	probably damaging	Het
Itpk1	A	T	12: 102,574,065	V253E	possibly damaging	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Mrps7	T	C	11: 115,604,891	V85A	probably benign	Het
Muc2	T	C	7: 141,748,126	L427P		Het
Mum1	T	A	10: 80,232,753	S244T	probably benign	Het
Myef2	G	T	2: 125,110,617	Q185K	probably benign	Het
Olfr1249	T	A	2: 89,630,571	D109V	probably damaging	Het
Olfr22-ps1	G	T	11: 73,955,509	C273F	unknown	Het
Pcdh15	G	A	10: 74,454,065	M905I	possibly damaging	Het
Pgm5	C	T	19: 24,709,299	V515M	probably benign	Het
Pik3r1	A	G	13: 101,689,136	I381T	probably damaging	Het
Pla2g4f	A	G	2: 120,307,256	M341T	probably benign	Het
Prmt2	A	G	10: 76,221,078	F204L	probably benign	Het
Rasa2	A	G	9: 96,611,447	V50A	unknown	Het
Scn7a	A	C	2: 66,675,532	I1671S	probably benign	Het
Sco2	G	A	15: 89,371,720	R244C	possibly damaging	Het
Slfn1	A	G	11: 83,121,141	M28V	possibly damaging	Het
Slfn9	A	T	11: 82,981,371	C846*	probably null	Het
Slfn9	A	G	11: 82,987,736	I189T	probably damaging	Het
Svil	T	A	18: 5,056,109	S327R	probably benign	Het
Tcaf3	A	T	6: 42,596,842	N145K	probably benign	Het
Tcrg-V6	G	T	13: 19,190,644	G40W	possibly damaging	Het
Ttc37	A	T	13: 76,148,825	K1100N	probably benign	Het
Tusc5	G	A	11: 76,694,225	R147Q	unknown	Het
Upp2	G	T	2: 58,771,574	V130F	possibly damaging	Het
Vnn3	G	A	10: 23,865,768	A324T	probably benign	Het
Wasf2	A	G	4: 133,185,101	E88G	unknown	Het
Zfp39	A	T	11: 58,890,107	C610S	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
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
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
R7929:Coro7	UTSW	16	4670536	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2019-10-07