Mutagenetix > Incidental Mutation

Incidental Mutation 'R1969:Coro7'

219555

Institutional Source

Beutler Lab

Gene Symbol

Coro7

Ensembl Gene

ENSMUSG00000039637

Gene Name

coronin 7

Synonyms

0610011B16Rik

MMRRC Submission

039982-MU

Accession Numbers

Essential gene?

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

Stock #

R1969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4626133-4679777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4633756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 451 (I451V)

Ref Sequence

ENSEMBL: ENSMUSP00000048489 (fasta)

Gene Model

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

AlphaFold

Q9D2V7

Predicted Effect

probably benign
Transcript: ENSMUST00000038552
AA Change: I451V

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: I451V

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: ENSMUST00000150028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151156

Meta Mutation Damage Score

0.0833

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,598,245		probably benign	Het
1700014D04Rik	T	C	13: 59,742,785	D407G	probably damaging	Het
9930021J03Rik	C	T	19: 29,716,675	S1873N	possibly damaging	Het
Apoh	G	A	11: 108,407,462	R196Q	probably benign	Het
Arnt	C	T	3: 95,448,393	S16L	possibly damaging	Het
B4galnt4	T	C	7: 141,064,848	F194L	probably benign	Het
BC034090	A	T	1: 155,225,226	L431M	possibly damaging	Het
Bdh2	G	T	3: 135,288,279	A31S	probably damaging	Het
Cacna1s	T	C	1: 136,119,095	S1821P	probably benign	Het
Caskin1	A	T	17: 24,506,850	Q1370L	possibly damaging	Het
Ccdc83	T	A	7: 90,244,154	S132C	probably damaging	Het
Cdk15	A	T	1: 59,330,951	H384L	probably damaging	Het
Col24a1	T	C	3: 145,314,930	I354T	probably benign	Het
Ctnna2	T	C	6: 77,758,500	E65G	probably damaging	Het
Ctsll3	A	T	13: 60,800,348	W172R	probably benign	Het
D230025D16Rik	T	A	8: 105,246,500	D247E	possibly damaging	Het
D630045J12Rik	T	C	6: 38,168,143	D1316G	probably damaging	Het
Ddx19b	C	T	8: 111,008,258	A493T	probably benign	Het
Ddx4	C	T	13: 112,600,013	V608I	probably damaging	Het
Ddx4	T	A	13: 112,620,742	H348L	probably damaging	Het
Dnah17	G	C	11: 118,104,535	Q996E	probably benign	Het
Dnah9	G	C	11: 65,848,371	N4180K	probably damaging	Het
Dok7	A	G	5: 35,077,266		probably null	Het
Dpf3	T	A	12: 83,325,035		probably null	Het
Elfn1	G	C	5: 139,972,849	R536P	probably damaging	Het
Eml6	A	G	11: 29,833,075	V602A	probably benign	Het
Enpp2	T	C	15: 54,882,982	D296G	probably damaging	Het
Evi5	A	T	5: 107,748,364	F738I	probably benign	Het
Eya2	T	C	2: 165,716,119	S212P	probably benign	Het
Fam83a	T	C	15: 57,986,102	L14P	probably damaging	Het
Fanca	A	T	8: 123,288,064	M735K	probably benign	Het
Fancm	T	A	12: 65,101,692	S694T	probably benign	Het
Fibcd1	G	A	2: 31,816,661	T386I	probably damaging	Het
Foxd4	A	G	19: 24,899,814	S341P	probably benign	Het
Foxp4	C	T	17: 47,875,871	R378Q	unknown	Het
Fryl	A	T	5: 73,098,266	S807R	probably benign	Het
Fscb	T	C	12: 64,473,234	E486G	unknown	Het
Galnt17	A	G	5: 131,150,944	S122P	probably benign	Het
Ghitm	A	G	14: 37,131,629	F85L	probably benign	Het
Ghrh	C	A	2: 157,333,466	V32L	probably benign	Het
Gli2	C	T	1: 118,837,700	R907H	probably benign	Het
Gm11639	A	G	11: 104,746,264	I988M	probably damaging	Het
Gm28042	A	G	2: 120,041,615	*1015W	probably null	Het
Gpr179	T	C	11: 97,337,958	T1124A	probably benign	Het
Grid2	C	A	6: 63,908,918	C99*	probably null	Het
Grin1	A	T	2: 25,297,915	M523K	probably benign	Het
Gucy2g	T	C	19: 55,222,896	Y634C	possibly damaging	Het
Gucy2g	T	G	19: 55,233,053	T339P	probably benign	Het
Haus6	A	T	4: 86,604,246	L116H	probably damaging	Het
Hey1	T	C	3: 8,666,819	T18A	probably benign	Het
Hipk3	T	C	2: 104,433,841	N792D	probably damaging	Het
Il19	A	T	1: 130,939,156	L29Q	probably damaging	Het
Il21r	A	G	7: 125,628,972	Q205R	probably damaging	Het
Kcnip2	T	C	19: 45,793,683	D169G	probably null	Het
Kctd18	T	C	1: 57,967,620	I24V	probably benign	Het
Lcp1	T	C	14: 75,200,506	S119P	probably damaging	Het
Lig3	G	C	11: 82,795,718	D642H	probably benign	Het
Lrba	A	G	3: 86,608,389	K2166E	probably damaging	Het
Lrrn2	T	C	1: 132,939,234	V679A	probably benign	Het
Lyst	G	A	13: 13,730,344	R3202H	probably damaging	Het
Micall2	A	G	5: 139,736,130	C11R	probably damaging	Het
Morc2b	T	G	17: 33,137,091	Q569P	probably benign	Het
Mtrf1	A	G	14: 79,401,671	E81G	probably damaging	Het
Myh2	G	T	11: 67,189,178	S1099I	possibly damaging	Het
Nap1l1	T	A	10: 111,491,053	D158E	probably benign	Het
Nckap5l	T	A	15: 99,422,818	T1285S	probably damaging	Het
Nsrp1	A	T	11: 77,045,786	M528K	probably damaging	Het
Numa1	C	T	7: 102,009,322	A1605V	probably damaging	Het
Nutm2	T	C	13: 50,473,842	L453P	probably damaging	Het
Ofd1	T	C	X: 166,427,214	Y205C	probably benign	Het
Olfr1233	T	A	2: 89,340,296	N2I	probably damaging	Het
Olfr135	A	G	17: 38,208,464	Y73C	probably damaging	Het
Olfr19	T	A	16: 16,673,583	M133L	probably benign	Het
Olfr552	A	T	7: 102,604,570	D72V	probably damaging	Het
Olfr693	T	A	7: 106,677,670	N272I	probably damaging	Het
Patl1	T	C	19: 11,921,418	L159P	probably benign	Het
Paxip1	G	A	5: 27,744,136	T1045I	probably damaging	Het
Pik3ca	A	G	3: 32,451,754		probably null	Het
Pkhd1	T	A	1: 20,381,523	I2183F	probably damaging	Het
Plec	C	T	15: 76,189,172	R319H	probably damaging	Het
Pnkd	G	A	1: 74,351,849	G334D	probably damaging	Het
Prss50	A	G	9: 110,862,381	Y251C	probably damaging	Het
Rab11b	A	T	17: 33,760,235	Y10N	probably damaging	Het
Rfc1	G	A	5: 65,319,524	R4W	probably damaging	Het
Rgs19	A	T	2: 181,689,483	F119Y	probably damaging	Het
Safb	A	G	17: 56,605,821	H883R	probably benign	Het
Serpine1	G	A	5: 137,067,747	Q227*	probably null	Het
Slc25a13	A	G	6: 6,096,668		probably null	Het
Slc6a18	T	A	13: 73,664,189	T502S	possibly damaging	Het
Sox4	T	C	13: 28,952,648	D125G	probably damaging	Het
Stag3	C	T	5: 138,300,138	T731I	probably damaging	Het
Thada	G	T	17: 84,310,042	P1349T	probably damaging	Het
Tmem245	C	A	4: 56,937,964	V195F	probably benign	Het
Tnxb	A	G	17: 34,679,081	H901R	probably benign	Het
Trim39	A	T	17: 36,268,753	D103E	probably benign	Het
Ttn	A	T	2: 76,731,960	V28847E	probably damaging	Het
Tubb1	A	T	2: 174,455,691	D31V	possibly damaging	Het
Ush1g	A	G	11: 115,318,454	S305P	probably damaging	Het
Vmn1r191	A	T	13: 22,178,782	N267K	possibly damaging	Het
Vmn1r59	A	T	7: 5,454,039	Y241N	probably damaging	Het
Vmn2r49	T	C	7: 9,986,308	N419D	probably damaging	Het
Vps35	T	C	8: 85,278,994	D326G	possibly damaging	Het
Xdh	A	G	17: 73,892,751	S1187P	possibly damaging	Het
Xpc	A	C	6: 91,501,025		probably null	Het
Zfp273	T	C	13: 67,825,163	Y104H	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
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'- AGAAGCTTGCCCACGTTTCTC -3'
(R):5'- ATTGCCACCTGACTCATGC -3'

Sequencing Primer
(F):5'- ACGTTTCTCTACAGCCTGCAAG -3'
(R):5'- GCTTCAGCAGGCTCATGC -3'

Posted On

2014-08-25