Mutagenetix > Incidental Mutation

Incidental Mutation 'R7846:Coro7'

606645

Institutional Source

Beutler Lab

Gene Symbol

Coro7

Ensembl Gene

ENSMUSG00000039637

Gene Name

coronin 7

Synonyms

0610011B16Rik

MMRRC Submission

045900-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R7846 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4444748-4497584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4488400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 90 (D90G)

Ref Sequence

ENSEMBL: ENSMUSP00000048489 (fasta)

Gene Model

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

AlphaFold

Q9D2V7

Predicted Effect

probably damaging
Transcript: ENSMUST00000038552
AA Change: D90G

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

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: D90G

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 damaging
Transcript: ENSMUST00000090480
AA Change: D90G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087966
Gene: ENSMUSG00000039637
AA Change: D90G

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

probably damaging
Transcript: ENSMUST00000135823
AA Change: D90G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118310
Gene: ENSMUSG00000039637
AA Change: D90G

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: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	A	G	5: 100,954,698 (GRCm39)	V247A	probably damaging	Het
Acot13	G	T	13: 25,002,133 (GRCm39)	T103K	probably damaging	Het
Acsl6	A	T	11: 54,251,901 (GRCm39)	I683F	probably damaging	Het
Acss2	A	T	2: 155,402,953 (GRCm39)	H577L	probably damaging	Het
Ahctf1	A	T	1: 179,614,638 (GRCm39)	V382D	probably damaging	Het
Aldob	T	C	4: 49,538,858 (GRCm39)	H220R	probably damaging	Het
Ankrd1	C	T	19: 36,094,218 (GRCm39)	V169M	probably damaging	Het
Atp5f1a	G	A	18: 77,869,015 (GRCm39)	R413H	possibly damaging	Het
Cep76	A	G	18: 67,762,975 (GRCm39)	F283L	probably damaging	Het
Chrna5	A	T	9: 54,912,391 (GRCm39)	D397V	probably benign	Het
Csnk1g3	A	G	18: 54,081,177 (GRCm39)	N383D	probably benign	Het
Cwf19l2	C	A	9: 3,477,889 (GRCm39)	Q865K	probably damaging	Het
Cyth2	C	A	7: 45,460,378 (GRCm39)	W149C	probably damaging	Het
Dgkh	C	A	14: 78,856,026 (GRCm39)	R349L	probably damaging	Het
Dnajc1	G	T	2: 18,224,704 (GRCm39)	T383N	possibly damaging	Het
Efcab3	T	A	11: 104,605,571 (GRCm39)		probably null	Het
Extl3	A	T	14: 65,313,181 (GRCm39)	M667K	probably damaging	Het
Fam149a	G	T	8: 45,811,678 (GRCm39)	A75E		Het
Fgd4	T	G	16: 16,240,590 (GRCm39)	Q713P	probably damaging	Het
Frat2	T	A	19: 41,836,215 (GRCm39)	I46F	probably damaging	Het
Gzmc	A	G	14: 56,469,017 (GRCm39)	V234A	probably damaging	Het
H2-Q4	A	G	17: 35,599,134 (GRCm39)	N135D	probably damaging	Het
Ighv1-85	A	T	12: 115,963,937 (GRCm39)	V21D	possibly damaging	Het
Itprid1	A	G	6: 55,955,320 (GRCm39)	Q976R	possibly damaging	Het
Kcna6	A	T	6: 126,715,983 (GRCm39)	V302E	probably damaging	Het
Kdm3b	G	T	18: 34,942,293 (GRCm39)	V795L	possibly damaging	Het
Kdm5b	G	A	1: 134,545,578 (GRCm39)	R913H	probably damaging	Het
Lpp	T	A	16: 24,426,876 (GRCm39)	M1K	probably null	Het
Med12l	T	C	3: 59,172,355 (GRCm39)	S1704P	probably damaging	Het
Mfsd10	G	T	5: 34,793,456 (GRCm39)	S95*	probably null	Het
Napepld	C	T	5: 21,880,721 (GRCm39)	E225K	probably benign	Het
Ndfip2	T	C	14: 105,535,448 (GRCm39)	F245L	probably damaging	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or10k2	A	G	8: 84,268,526 (GRCm39)	H251R	probably damaging	Het
Or13a20	C	T	7: 140,232,374 (GRCm39)	H161Y	probably damaging	Het
Or51i1	A	G	7: 103,670,736 (GRCm39)	I263T	possibly damaging	Het
Or52z15	A	G	7: 103,332,407 (GRCm39)	I161V	probably benign	Het
Or5p6	A	G	7: 107,631,199 (GRCm39)	I117T	probably benign	Het
Or8b47	A	G	9: 38,435,675 (GRCm39)	T216A	probably benign	Het
Pcdhgb2	A	T	18: 37,825,273 (GRCm39)	I755F	possibly damaging	Het
Pde4dip	A	G	3: 97,622,490 (GRCm39)	L1573P	probably damaging	Het
Peg3	A	T	7: 6,713,650 (GRCm39)	V524E	probably damaging	Het
Phc1	G	T	6: 122,310,329 (GRCm39)	T126N	probably damaging	Het
Phf1	C	A	17: 27,154,291 (GRCm39)	Y169*	probably null	Het
Pramel25	A	T	4: 143,520,563 (GRCm39)	D269V	probably benign	Het
Prl3a1	G	A	13: 27,456,442 (GRCm39)	E99K	probably damaging	Het
Prss57	G	A	10: 79,623,213 (GRCm39)	A78V	probably damaging	Het
Ptprb	A	T	10: 116,119,453 (GRCm39)	T196S	probably benign	Het
Rgsl1	A	T	1: 153,701,783 (GRCm39)	C224S	possibly damaging	Het
Rtn4	T	C	11: 29,643,274 (GRCm39)	V29A	unknown	Het
Selplg	G	A	5: 113,957,481 (GRCm39)	T275M	probably damaging	Het
Skint11	C	T	4: 114,102,076 (GRCm39)	T363I	possibly damaging	Het
Slc22a29	T	A	19: 8,170,851 (GRCm39)	I289F	probably benign	Het
Slc26a2	A	G	18: 61,331,776 (GRCm39)	S552P	probably benign	Het
Sptb	T	A	12: 76,655,300 (GRCm39)	K1480*	probably null	Het
Sptbn1	C	A	11: 30,092,153 (GRCm39)	M537I	probably damaging	Het
Sqor	A	T	2: 122,627,008 (GRCm39)	H43L	probably benign	Het
Srcin1	C	A	11: 97,416,926 (GRCm39)	E913*	probably null	Het
Srgap1	A	G	10: 121,621,397 (GRCm39)	L1032P	probably damaging	Het
Stc2	T	C	11: 31,315,413 (GRCm39)	K142R	probably benign	Het
Stox1	A	C	10: 62,495,305 (GRCm39)	N989K	probably damaging	Het
Tert	T	A	13: 73,776,314 (GRCm39)	L355H	probably damaging	Het
Tfb2m	A	G	1: 179,358,926 (GRCm39)	F319S	probably damaging	Het
Trps1	A	G	15: 50,695,273 (GRCm39)	F341L	probably damaging	Het
Ttk	T	C	9: 83,725,732 (GRCm39)	V218A	probably benign	Het
Vmn1r159	A	G	7: 22,542,696 (GRCm39)	I112T	probably benign	Het
Vps8	C	A	16: 21,351,070 (GRCm39)	Q916K	probably benign	Het
Wdr12	A	T	1: 60,121,225 (GRCm39)	D364E	probably damaging	Het
Ylpm1	A	G	12: 85,104,042 (GRCm39)	E2019G	probably damaging	Het
Zfp267	C	A	3: 36,219,738 (GRCm39)	T587N	probably benign	Het
Zfp507	A	G	7: 35,493,963 (GRCm39)	L360P	probably 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
R1967:Coro7	UTSW	16	4,452,753 (GRCm39)	missense	probably damaging	1.00
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
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'- TAAGGGCAGATCACAACAGC -3'
(R):5'- GTGTCTAGAAAGAATGTGGCTTC -3'

Sequencing Primer
(F):5'- CAGCAGCTCTGAGAAGGCAC -3'
(R):5'- CCTGATCTACAAAGTGAGTTCCAGG -3'

Posted On

2019-12-20