Mutagenetix > Incidental Mutation

Incidental Mutation 'R1967:Coro7'

219112

Institutional Source

Beutler Lab

Gene Symbol

Coro7

Ensembl Gene

ENSMUSG00000039637

Gene Name

coronin 7

Synonyms

0610011B16Rik

MMRRC Submission

039980-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R1967 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4444748-4497584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4452753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 306 (E306G)

Ref Sequence

ENSEMBL: ENSMUSP00000048489 (fasta)

Gene Model

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

AlphaFold

Q9D2V7

Predicted Effect

probably damaging
Transcript: ENSMUST00000038552
AA Change: E306G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: E306G

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: ENSMUST00000127125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130125

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: ENSMUST00000151156

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	C	15: 37,439,842 (GRCm39)		probably benign	Het
Abca6	T	C	11: 110,077,974 (GRCm39)	I1278V	probably benign	Het
Adamts15	C	T	9: 30,832,605 (GRCm39)	W310*	probably null	Het
Adamts6	T	A	13: 104,563,459 (GRCm39)	C650*	probably null	Het
Akap3	G	T	6: 126,842,061 (GRCm39)	G227C	probably benign	Het
Alox12e	A	T	11: 70,208,682 (GRCm39)	S457T	probably benign	Het
Angpt1	C	A	15: 42,301,703 (GRCm39)	C435F	probably damaging	Het
Anxa9	T	C	3: 95,207,919 (GRCm39)	Q207R	probably benign	Het
Aplnr	A	T	2: 84,967,950 (GRCm39)	D325V	probably benign	Het
Art2b	A	C	7: 101,229,414 (GRCm39)	F162V	probably damaging	Het
Atp13a4	A	G	16: 29,298,672 (GRCm39)	S96P	probably damaging	Het
Bnc1	A	T	7: 81,623,384 (GRCm39)	H614Q	probably benign	Het
C6	A	G	15: 4,789,302 (GRCm39)	D249G	probably damaging	Het
Camta1	A	T	4: 151,173,430 (GRCm39)	F977I	probably damaging	Het
Chil6	T	C	3: 106,298,470 (GRCm39)	S188G	possibly damaging	Het
Cntrob	A	T	11: 69,211,789 (GRCm39)	L145Q	probably damaging	Het
Cplane1	T	G	15: 8,232,904 (GRCm39)	V1141G	probably benign	Het
Cpq	T	C	15: 33,497,348 (GRCm39)	S363P	possibly damaging	Het
Ctc1	A	G	11: 68,918,688 (GRCm39)		probably null	Het
Defb43	T	A	14: 63,255,246 (GRCm39)	N26K	probably benign	Het
Dennd1a	T	C	2: 37,734,845 (GRCm39)	T41A	probably benign	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Eml6	A	G	11: 29,974,545 (GRCm39)	L11P	probably damaging	Het
Epha5	A	G	5: 84,564,288 (GRCm39)	V26A	probably benign	Het
Fam13c	A	G	10: 70,387,565 (GRCm39)	D443G	probably damaging	Het
Fam227a	G	A	15: 79,521,335 (GRCm39)	L243F	possibly damaging	Het
Fat3	T	G	9: 15,879,591 (GRCm39)	R3301S	probably benign	Het
Fbxw20	T	C	9: 109,046,578 (GRCm39)	T461A	probably benign	Het
Fgf8	T	A	19: 45,730,007 (GRCm39)	S61C	probably damaging	Het
Fgfrl1	A	G	5: 108,852,871 (GRCm39)	E100G	probably damaging	Het
Gabra4	G	A	5: 71,729,412 (GRCm39)	S456F	possibly damaging	Het
Gas6	T	C	8: 13,520,317 (GRCm39)	E457G	probably damaging	Het
Gpr33	G	A	12: 52,070,991 (GRCm39)	S16L	probably benign	Het
Greb1l	A	C	18: 10,501,049 (GRCm39)	N393T	possibly damaging	Het
Gtpbp4	T	C	13: 9,027,340 (GRCm39)	K492E	probably benign	Het
Hsf2bp	A	T	17: 32,206,378 (GRCm39)	L251*	probably null	Het
Hyal5	A	T	6: 24,876,193 (GRCm39)	Q22L	possibly damaging	Het
Itih1	A	T	14: 30,663,941 (GRCm39)	V114E	possibly damaging	Het
Jak3	T	A	8: 72,134,179 (GRCm39)	I427N	probably damaging	Het
Jcad	T	C	18: 4,675,162 (GRCm39)	S975P	probably benign	Het
Kcng4	A	G	8: 120,359,662 (GRCm39)	V238A	probably damaging	Het
Klb	A	G	5: 65,529,417 (GRCm39)	D315G	probably damaging	Het
Klrh1	A	T	6: 129,752,798 (GRCm39)	N2K	possibly damaging	Het
Krt5	T	C	15: 101,620,094 (GRCm39)	N208D	probably benign	Het
Lmo7	T	A	14: 102,137,651 (GRCm39)	H551Q	probably benign	Het
Lrp8	G	T	4: 107,717,168 (GRCm39)	G732V	probably damaging	Het
Lrrc38	A	G	4: 143,096,553 (GRCm39)	D288G	unknown	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Mas1	A	G	17: 13,060,923 (GRCm39)	Y167H	probably benign	Het
Mcm8	A	C	2: 132,684,662 (GRCm39)	I759L	probably benign	Het
Med13l	G	A	5: 118,899,387 (GRCm39)	D2148N	probably damaging	Het
Muc20	A	T	16: 32,614,612 (GRCm39)	I255K	probably benign	Het
Myh1	A	G	11: 67,104,273 (GRCm39)	N980S	probably benign	Het
Nap1l4	T	A	7: 143,088,024 (GRCm39)	Q178L	probably damaging	Het
Ncapg	T	A	5: 45,857,252 (GRCm39)	L988Q	probably damaging	Het
Ncf2	A	T	1: 152,706,123 (GRCm39)	H245L	probably damaging	Het
Neurl4	A	G	11: 69,794,036 (GRCm39)	E164G	possibly damaging	Het
Nf1	G	A	11: 79,303,571 (GRCm39)	R416H	probably damaging	Het
Obscn	G	A	11: 59,026,535 (GRCm39)	Q223*	probably null	Het
Or10q1	T	A	19: 13,727,417 (GRCm39)	*316R	probably null	Het
Or2o1	T	C	11: 49,051,675 (GRCm39)	I278T	probably benign	Het
Pcdhb16	T	A	18: 37,612,715 (GRCm39)	N558K	probably damaging	Het
Pcnx2	A	T	8: 126,542,422 (GRCm39)	M1253K	possibly damaging	Het
Pla2g4a	A	G	1: 149,797,832 (GRCm39)	V22A	probably damaging	Het
Plppr5	G	A	3: 117,419,555 (GRCm39)		probably null	Het
Pnpla2	T	C	7: 141,039,345 (GRCm39)	S353P	probably benign	Het
Pom121	A	T	5: 135,420,608 (GRCm39)	L271Q	unknown	Het
Prepl	A	T	17: 85,395,979 (GRCm39)	M1K	probably null	Het
Prr14l	A	G	5: 33,001,813 (GRCm39)		probably benign	Het
Psmc3	C	A	2: 90,888,189 (GRCm39)	P325T	probably benign	Het
Psme2b	A	G	11: 48,836,896 (GRCm39)	V17A	probably damaging	Het
Ptpro	A	G	6: 137,393,863 (GRCm39)	I23V	probably benign	Het
Rab31	A	G	17: 66,079,499 (GRCm39)		probably null	Het
Ranbp6	T	A	19: 29,789,900 (GRCm39)	K151*	probably null	Het
Rbm12b1	A	T	4: 12,146,304 (GRCm39)	I759L	probably benign	Het
Rgs5	T	C	1: 169,504,425 (GRCm39)	I25T	probably benign	Het
Rnf213	T	C	11: 119,371,721 (GRCm39)	V4842A	probably damaging	Het
Rtl9	A	T	X: 141,886,037 (GRCm39)	I1150F	probably damaging	Het
Scn1a	A	T	2: 66,158,769 (GRCm39)	W384R	probably damaging	Het
Sema5a	C	T	15: 32,681,765 (GRCm39)	P948L	probably damaging	Het
Slc26a3	G	A	12: 31,515,777 (GRCm39)	R559Q	probably damaging	Het
Slc29a3	A	G	10: 60,552,243 (GRCm39)	V267A	probably benign	Het
Spata22	A	G	11: 73,221,953 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,454 (GRCm39)	I909L	probably benign	Het
Sptbn2	G	T	19: 4,795,327 (GRCm39)	R1595L	probably benign	Het
Tfdp1	T	C	8: 13,423,039 (GRCm39)	S315P	possibly damaging	Het
Tle1	A	T	4: 72,038,463 (GRCm39)	V688E	probably damaging	Het
Tmem129	A	T	5: 33,812,665 (GRCm39)		probably null	Het
Tmprss11a	G	A	5: 86,579,702 (GRCm39)	T91I	probably benign	Het
Tnfsf14	A	G	17: 57,497,807 (GRCm39)	Y142H	probably damaging	Het
Tph1	T	C	7: 46,311,538 (GRCm39)	D68G	probably benign	Het
Ttn	A	T	2: 76,592,631 (GRCm39)	S12507T	probably damaging	Het
Tubgcp2	T	A	7: 139,586,066 (GRCm39)	M408L	probably benign	Het
Usp34	A	T	11: 23,314,503 (GRCm39)	H815L	probably benign	Het
Usp6nl	G	A	2: 6,446,330 (GRCm39)	R746H	probably benign	Het
Utp20	A	G	10: 88,652,841 (GRCm39)	S358P	probably benign	Het
Vmn2r118	G	A	17: 55,899,882 (GRCm39)	T674I	probably damaging	Het
Vmn2r8	A	T	5: 108,950,249 (GRCm39)	H199Q	probably benign	Het
Vmn2r9	A	G	5: 108,995,388 (GRCm39)	V420A	probably benign	Het
Vmn2r99	A	T	17: 19,599,077 (GRCm39)	T254S	probably benign	Het
Zbed5	A	G	5: 129,930,510 (GRCm39)	H132R	possibly damaging	Het
Zfp568	A	G	7: 29,688,513 (GRCm39)	E25G	probably damaging	Het
Zfp951	T	A	5: 104,964,866 (GRCm39)	I67L	possibly damaging	Het

Other mutations in Coro7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Coro7	APN	16	4,452,500 (GRCm39)	missense	possibly damaging	0.83
IGL00885:Coro7	APN	16	4,452,890 (GRCm39)	missense	probably benign	0.00
IGL02944:Coro7	APN	16	4,453,276 (GRCm39)	missense	probably benign	0.14
IGL03104:Coro7	APN	16	4,446,990 (GRCm39)	missense	probably damaging	1.00
IGL03153:Coro7	APN	16	4,453,246 (GRCm39)	critical splice donor site	probably null
R0022:Coro7	UTSW	16	4,451,168 (GRCm39)	missense	probably benign	0.01
R0022:Coro7	UTSW	16	4,451,168 (GRCm39)	missense	probably benign	0.01
R0071:Coro7	UTSW	16	4,488,391 (GRCm39)	missense	probably damaging	1.00
R0071:Coro7	UTSW	16	4,488,391 (GRCm39)	missense	probably damaging	1.00
R0080:Coro7	UTSW	16	4,448,328 (GRCm39)	missense	probably damaging	1.00
R0193:Coro7	UTSW	16	4,445,368 (GRCm39)	unclassified	probably benign
R0242:Coro7	UTSW	16	4,448,042 (GRCm39)	splice site	probably benign
R0318:Coro7	UTSW	16	4,493,671 (GRCm39)	missense	probably benign	0.09
R0554:Coro7	UTSW	16	4,450,121 (GRCm39)	missense	possibly damaging	0.63
R0666:Coro7	UTSW	16	4,449,775 (GRCm39)	missense	possibly damaging	0.70
R0835:Coro7	UTSW	16	4,450,118 (GRCm39)	missense	probably benign	0.12
R0968:Coro7	UTSW	16	4,487,919 (GRCm39)	splice site	probably benign
R1670:Coro7	UTSW	16	4,446,097 (GRCm39)	missense	possibly damaging	0.76
R1709:Coro7	UTSW	16	4,452,305 (GRCm39)	splice site	probably null
R1848:Coro7	UTSW	16	4,448,298 (GRCm39)	missense	probably damaging	0.99
R1884:Coro7	UTSW	16	4,446,683 (GRCm39)	unclassified	probably benign
R1935:Coro7	UTSW	16	4,446,596 (GRCm39)	missense	probably benign
R1937:Coro7	UTSW	16	4,446,596 (GRCm39)	missense	probably benign
R1939:Coro7	UTSW	16	4,446,596 (GRCm39)	missense	probably benign
R1969:Coro7	UTSW	16	4,451,620 (GRCm39)	missense	probably benign	0.19
R1970:Coro7	UTSW	16	4,451,620 (GRCm39)	missense	probably benign	0.19
R3034:Coro7	UTSW	16	4,450,155 (GRCm39)	missense	probably damaging	0.99
R4638:Coro7	UTSW	16	4,450,151 (GRCm39)	missense	probably damaging	0.96
R4710:Coro7	UTSW	16	4,452,797 (GRCm39)	intron	probably benign
R4723:Coro7	UTSW	16	4,449,858 (GRCm39)	missense	probably benign	0.00
R4789:Coro7	UTSW	16	4,446,085 (GRCm39)	missense	probably damaging	1.00
R5493:Coro7	UTSW	16	4,450,351 (GRCm39)	missense	probably damaging	0.99
R5619:Coro7	UTSW	16	4,494,799 (GRCm39)	critical splice donor site	probably null
R5756:Coro7	UTSW	16	4,450,148 (GRCm39)	missense	probably damaging	0.97
R5974:Coro7	UTSW	16	4,449,753 (GRCm39)	missense	possibly damaging	0.83
R6010:Coro7	UTSW	16	4,487,820 (GRCm39)	missense	possibly damaging	0.68
R6038:Coro7	UTSW	16	4,497,414 (GRCm39)	critical splice donor site	probably null
R6038:Coro7	UTSW	16	4,497,414 (GRCm39)	critical splice donor site	probably null
R6906:Coro7	UTSW	16	4,451,168 (GRCm39)	missense	probably benign	0.00
R6925:Coro7	UTSW	16	4,446,538 (GRCm39)	critical splice donor site	probably null
R7069:Coro7	UTSW	16	4,497,475 (GRCm39)	start codon destroyed	probably damaging	0.99
R7326:Coro7	UTSW	16	4,449,912 (GRCm39)	missense	probably damaging	0.96
R7421:Coro7	UTSW	16	4,486,615 (GRCm39)	missense	probably benign	0.19
R7521:Coro7	UTSW	16	4,449,346 (GRCm39)	missense	probably benign	0.00
R7773:Coro7	UTSW	16	4,449,870 (GRCm39)	missense	probably damaging	1.00
R7846:Coro7	UTSW	16	4,488,400 (GRCm39)	missense	probably damaging	1.00
R8240:Coro7	UTSW	16	4,486,660 (GRCm39)	missense	probably damaging	0.96
R8726:Coro7	UTSW	16	4,486,619 (GRCm39)	missense	possibly damaging	0.95
R8762:Coro7	UTSW	16	4,452,203 (GRCm39)	missense	probably benign
R9383:Coro7	UTSW	16	4,452,888 (GRCm39)	missense	probably damaging	1.00
R9451:Coro7	UTSW	16	4,488,402 (GRCm39)	missense	probably damaging	1.00
R9553:Coro7	UTSW	16	4,486,624 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AACTCTACAGCCTGGTGAGG -3'
(R):5'- TCTACAGCACATGGTCAGGTG -3'

Sequencing Primer
(F):5'- GGAGCTAACGAGGCCCAAATC -3'
(R):5'- CACATGGTCAGGTGGAAGTC -3'

Posted On

2014-08-25