Mutagenetix > Incidental Mutations

Incidental Mutation 'R6778:Ccdc7a'

531375

Institutional Source

Beutler Lab

Gene Symbol

Ccdc7a

Ensembl Gene

ENSMUSG00000025808

Gene Name

coiled-coil domain containing 7A

Synonyms

Ccdc7, 4930517G15Rik, 4930540C21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R6778 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128734235-129065517 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128821120 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1284 (T1284S)

Ref Sequence

ENSEMBL: ENSMUSP00000149790 (fasta)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214889
AA Change: T1284S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	A	10: 61,225,452	N403Y	probably damaging	Het
Akap6	A	G	12: 53,025,816	E989G	probably damaging	Het
Aoc2	A	G	11: 101,325,361	N90S	probably damaging	Het
Apol9a	T	C	15: 77,404,333	Y278C	probably benign	Het
Casq2	T	A	3: 102,127,931		probably null	Het
Dlat	A	G	9: 50,650,857	L289P	probably damaging	Het
Dnah8	C	T	17: 30,635,666	P101S	probably benign	Het
Dzip3	C	A	16: 48,982,083	A28S	probably benign	Het
Fam205c	T	C	4: 42,868,522	K367R	possibly damaging	Het
Ffar4	A	G	19: 38,113,664	E249G	possibly damaging	Het
Fubp3	A	T	2: 31,598,673	K180N	possibly damaging	Het
Gm7489	T	A	15: 53,885,952		probably benign	Het
Ifitm6	A	T	7: 141,016,143	M59K	possibly damaging	Het
Igkv4-80	A	T	6: 69,016,561	Y115*	probably null	Het
Igsf21	G	T	4: 140,034,648	R240S	probably benign	Het
Kank4	A	T	4: 98,761,505	N942K	probably benign	Het
Man2a1	C	A	17: 64,714,635	T35K	possibly damaging	Het
Mvk	T	A	5: 114,452,380	D193E	probably benign	Het
Npas2	T	A	1: 39,325,300	M241K	possibly damaging	Het
Npsr1	T	A	9: 24,254,618	I100N	possibly damaging	Het
Olfml2b	A	G	1: 170,645,070	D50G	probably damaging	Het
Olfr961	T	A	9: 39,646,747	V7E	probably damaging	Het
Pcnx	A	G	12: 81,918,871	D604G	probably damaging	Het
Pitx2	C	T	3: 129,218,743	P254L	probably damaging	Het
Rdh10	T	C	1: 16,106,184	F56S	probably damaging	Het
Rin1	T	C	19: 5,054,886	L647P	probably damaging	Het
Sgk3	T	A	1: 9,886,144		probably null	Het
Sgpp1	A	G	12: 75,716,294	I371T	probably benign	Het
Slc12a9	T	C	5: 137,315,081	Y872C	possibly damaging	Het
Syne1	A	G	10: 5,102,406	F7487L	probably damaging	Het
Tars	T	C	15: 11,389,699	N375S	probably benign	Het
Tbc1d31	A	G	15: 57,938,029	Y320C	probably damaging	Het
Tbl1xr1	T	A	3: 22,189,782	F73L	probably benign	Het
Tmem145	G	A	7: 25,311,376	V378I	probably benign	Het
Tmprss11d	T	C	5: 86,309,350	H150R	probably benign	Het
Tnc	T	G	4: 63,995,598	I1326L	probably benign	Het
Trpc7	T	C	13: 56,804,687	Y502C	probably damaging	Het
Usp32	T	C	11: 85,025,686	I811V	probably benign	Het
Vmn1r71	C	T	7: 10,748,216	A182T	probably benign	Het
Wdr47	T	A	3: 108,633,096	N602K	probably benign	Het

Other mutations in Ccdc7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Ccdc7a	APN	8	129026754	splice site	probably benign
IGL01019:Ccdc7a	APN	8	129061618	missense	probably benign	0.05
IGL01553:Ccdc7a	APN	8	129026591	splice site	probably benign
IGL01577:Ccdc7a	APN	8	128988763	missense	probably damaging	0.96
IGL03114:Ccdc7a	APN	8	129026689	missense	possibly damaging	0.62
IGL03323:Ccdc7a	APN	8	129058763	missense	probably benign	0.02
R1517:Ccdc7a	UTSW	8	129061681	missense	probably damaging	0.99
R1804:Ccdc7a	UTSW	8	128988766	nonsense	probably null
R1957:Ccdc7a	UTSW	8	128980135	missense	probably damaging	0.99
R4926:Ccdc7a	UTSW	8	128980054	intron	probably benign
R4981:Ccdc7a	UTSW	8	128984983	missense	probably benign	0.35
R5193:Ccdc7a	UTSW	8	128988797	missense	probably benign	0.02
R5273:Ccdc7a	UTSW	8	129061609	frame shift	probably null
R5486:Ccdc7a	UTSW	8	128985403	missense	probably damaging	0.98
R5505:Ccdc7a	UTSW	8	128980174	missense	possibly damaging	0.73
R5562:Ccdc7a	UTSW	8	129058785	missense	possibly damaging	0.79
R5704:Ccdc7a	UTSW	8	128980096	splice site	probably benign
R6256:Ccdc7a	UTSW	8	128935593	splice site	probably null
R6273:Ccdc7a	UTSW	8	128787338	missense	probably damaging	0.97
R6366:Ccdc7a	UTSW	8	128855992	missense	unknown
R6455:Ccdc7a	UTSW	8	128832610	missense	probably damaging	0.97
R6882:Ccdc7a	UTSW	8	128797328	intron	probably benign
R6891:Ccdc7a	UTSW	8	129026638	missense	probably damaging	1.00
R6906:Ccdc7a	UTSW	8	128935681	missense	unknown
R7028:Ccdc7a	UTSW	8	128881594	missense	unknown
R7046:Ccdc7a	UTSW	8	129047619	missense	probably damaging	0.99
R7073:Ccdc7a	UTSW	8	128892385	missense	possibly damaging	0.46
R7268:Ccdc7a	UTSW	8	128881152	missense	possibly damaging	0.66
R7454:Ccdc7a	UTSW	8	128944516	missense	unknown
R7643:Ccdc7a	UTSW	8	128889811	missense	probably damaging	1.00
R7733:Ccdc7a	UTSW	8	128993052	missense	probably damaging	1.00
R7792:Ccdc7a	UTSW	8	128892437	missense	possibly damaging	0.81
R7902:Ccdc7a	UTSW	8	128836173	missense	possibly damaging	0.46
R7946:Ccdc7a	UTSW	8	128917146	missense	probably damaging	0.97
R7983:Ccdc7a	UTSW	8	128881078	missense	possibly damaging	0.66
R8032:Ccdc7a	UTSW	8	128825383	missense	unknown
R8108:Ccdc7a	UTSW	8	128980153	missense	unknown
R8345:Ccdc7a	UTSW	8	128798764	missense	probably benign	0.01
R8372:Ccdc7a	UTSW	8	128821104	missense	possibly damaging	0.82
R8379:Ccdc7a	UTSW	8	128964936	missense	probably benign	0.03
R8472:Ccdc7a	UTSW	8	129027657	missense	probably damaging	0.99
R8478:Ccdc7a	UTSW	8	128761369	missense	possibly damaging	0.66
R8536:Ccdc7a	UTSW	8	128790120	missense	possibly damaging	0.66
R8671:Ccdc7a	UTSW	8	128920467	missense	probably damaging	0.99
RF008:Ccdc7a	UTSW	8	128964953	missense	probably damaging	0.99
Z1176:Ccdc7a	UTSW	8	129026663	missense	probably benign	0.41
Z1177:Ccdc7a	UTSW	8	128807924	missense	possibly damaging	0.66
Z1190:Ccdc7a	UTSW	8	128819895	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- ATGGTGGGCTCATAATATAGGCTG -3'
(R):5'- GCTGGGCATTAGAGAAGATTGATC -3'

Sequencing Primer
(F):5'- GTTTGTTGGAAGAGCCCATCCATAAG -3'
(R):5'- ACTGAGAGAATTGGCCTCTTCCAG -3'

Posted On

2018-08-29