Mutagenetix > Incidental Mutation

Incidental Mutation 'R0318:Coro7'

25552

Institutional Source

Beutler Lab

Gene Symbol

Coro7

Ensembl Gene

ENSMUSG00000039637

Gene Name

coronin 7

Synonyms

0610011B16Rik

MMRRC Submission

038528-MU

Accession Numbers

Essential gene?

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

Stock #

R0318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4626133-4679777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4675807 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 63 (H63L)

Ref Sequence

ENSEMBL: ENSMUSP00000118310 (fasta)

Gene Model

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

AlphaFold

Q9D2V7

Predicted Effect

probably benign
Transcript: ENSMUST00000038552
AA Change: H63L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: H63L

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 benign
Transcript: ENSMUST00000090480
AA Change: H63L

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000087966
Gene: ENSMUSG00000039637
AA Change: H63L

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: ENSMUST00000123031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127850

Predicted Effect

probably benign
Transcript: ENSMUST00000135823
AA Change: H63L

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118310
Gene: ENSMUSG00000039637
AA Change: H63L

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: ENSMUST00000144815

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.4%
20x: 86.5%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 58,028,974	L79Q	probably damaging	Het
Add1	T	C	5: 34,625,340	V130A	probably damaging	Het
Ankrd23	G	T	1: 36,534,072	T73K	probably benign	Het
BC005561	T	C	5: 104,517,753	F47S	probably benign	Het
Blk	A	G	14: 63,374,197	Y430H	probably damaging	Het
C3	C	T	17: 57,224,709	V272M	probably damaging	Het
Cerk	C	T	15: 86,151,565	A254T	possibly damaging	Het
Ces2a	G	A	8: 104,740,824	A494T	probably damaging	Het
Cfap46	T	C	7: 139,654,566	Y258C	probably damaging	Het
Chaf1a	C	T	17: 56,062,227	T486I	possibly damaging	Het
Colec12	A	G	18: 9,848,446	N208S	possibly damaging	Het
Cps1	T	A	1: 67,177,014	W833R	probably damaging	Het
Csmd3	A	T	15: 47,659,153	W2707R	probably damaging	Het
Dbn1	C	T	13: 55,474,916	E585K	probably damaging	Het
Ddx50	A	T	10: 62,642,837	I190K	probably damaging	Het
Dnmt3l	G	A	10: 78,055,055	V264M	probably damaging	Het
Dnpep	A	G	1: 75,316,626	V33A	probably damaging	Het
Fam163a	A	G	1: 156,079,969	C26R	probably damaging	Het
Fam83h	A	G	15: 76,003,629	S620P	probably benign	Het
Fcna	A	G	2: 25,625,059	S263P	probably benign	Het
Fnip2	A	T	3: 79,512,378	S165R	probably damaging	Het
Fpr-rs3	T	C	17: 20,624,148	T244A	probably benign	Het
Gpr152	T	C	19: 4,143,542	S361P	possibly damaging	Het
Grm5	A	T	7: 87,602,967	I142L	probably damaging	Het
Gucy2g	A	G	19: 55,237,798	S229P	probably benign	Het
Htr7	C	T	19: 35,969,486	G376D	probably damaging	Het
Irgc1	T	C	7: 24,432,471	D307G	probably benign	Het
Irs1	A	T	1: 82,288,660	S612T	probably benign	Het
Maml2	C	T	9: 13,620,594	T368I	probably damaging	Het
Mapkapk2	A	G	1: 131,097,335	V64A	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Nptx1	C	T	11: 119,542,541	E411K	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr995	C	A	2: 85,438,237	R307M	possibly damaging	Het
Pcgf5	A	T	19: 36,412,190	K22N	possibly damaging	Het
Psmd9	C	A	5: 123,234,649	A65E	possibly damaging	Het
Sh3bp1	A	G	15: 78,911,707	T679A	probably damaging	Het
Sipa1l2	G	A	8: 125,447,697	P1281S	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc25a24	A	G	3: 109,157,000	M222V	probably benign	Het
Smg9	T	C	7: 24,420,888	F429S	possibly damaging	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Sorl1	T	A	9: 42,081,954	Y258F	probably damaging	Het
Srp72	C	T	5: 76,984,200	T242I	probably benign	Het
Stc1	A	T	14: 69,038,418	Q220L	probably damaging	Het
Tas2r122	T	C	6: 132,711,832	T33A	possibly damaging	Het
Tbc1d10b	A	G	7: 127,199,034	L645P	probably damaging	Het
Timd4	T	A	11: 46,837,071	H272Q	probably benign	Het
Ttll5	T	G	12: 85,876,594		probably null	Het
Veph1	G	T	3: 66,057,259	S783Y	probably damaging	Het
Vmn1r230	T	C	17: 20,846,816	L89S	possibly damaging	Het
Xcr1	A	G	9: 123,856,154	V165A	possibly damaging	Het
Zfp286	T	C	11: 62,784,962	D58G	probably damaging	Het
Zfyve26	C	T	12: 79,276,281	R897H	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
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
R9553:Coro7	UTSW	16	4668760	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- ACCCCGATGGACTGGAACATCTAC -3'
(R):5'- AGCTGATAGCCCAAAGCTGACCTC -3'

Sequencing Primer
(F):5'- TGCAGGCCAGAGTTCCAAAC -3'
(R):5'- CATTCAGTGCAGATGGTTCAAGC -3'

Posted On

2013-04-16