Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01019:Ccdc7a'

53732

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc7a

Ensembl Gene

ENSMUSG00000025808

Gene Name

coiled-coil domain containing 7A

Synonyms

Ccdc7, 4930517G15Rik, 4930540C21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL01019

Quality Score

Status

Chromosome

Chromosomal Location

128734235-129065517 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129061618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 77 (S77T)

Ref Sequence

ENSEMBL: ENSMUSP00000149790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095158] [ENSMUST00000108747] [ENSMUST00000125112] [ENSMUST00000214889]

AlphaFold

Q9D541

Predicted Effect

probably benign
Transcript: ENSMUST00000095158
AA Change: S77T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000092780
Gene: ENSMUSG00000025808
AA Change: S77T

Domain	Start	End	E-Value	Type
Pfam:BioT2	1	166	3e-79	PFAM
SCOP:d1sig__	191	370	1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108747
AA Change: S77T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000104379
Gene: ENSMUSG00000025808
AA Change: S77T

Domain	Start	End	E-Value	Type
Pfam:BioT2	1	155	7.3e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125112
AA Change: S77T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000117961
Gene: ENSMUSG00000025808
AA Change: S77T

Domain	Start	End	E-Value	Type
Pfam:BioT2	1	166	4.3e-83	PFAM
SCOP:d1sig__	191	333	9e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000214889
AA Change: S77T

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	T	3: 37,006,984		probably null	Het
9930022D16Rik	T	C	11: 109,417,911		probably benign	Het
Aatk	T	C	11: 120,012,275	S375G	probably benign	Het
Abcg8	T	C	17: 84,691,995	M173T	probably benign	Het
B3galt2	A	C	1: 143,646,757	R210S	probably benign	Het
Capn5	C	T	7: 98,135,764	A168T	probably damaging	Het
Cbx7	C	T	15: 79,930,628	G24D	probably damaging	Het
Cd200r2	T	A	16: 44,909,469		probably benign	Het
Cdh11	T	C	8: 102,679,745	H32R	probably benign	Het
Chdh	A	T	14: 30,031,332	N66I	probably benign	Het
Clca3a2	G	A	3: 144,813,627	Q263*	probably null	Het
Dcc	T	C	18: 71,809,090	I319V	probably benign	Het
Depdc5	G	T	5: 32,893,401	M170I	probably damaging	Het
Dopey2	T	A	16: 93,810,229	L2140Q	probably benign	Het
Frem3	G	A	8: 80,615,134	G1352E	probably benign	Het
Fsd1l	T	A	4: 53,694,742	C389S	probably damaging	Het
Grin2c	C	T	11: 115,258,110	A221T	possibly damaging	Het
Gstz1	C	A	12: 87,163,801	P153T	probably damaging	Het
Itgb2	T	C	10: 77,542,403	S22P	possibly damaging	Het
Krt87	G	T	15: 101,438,431	Q114K	possibly damaging	Het
Krtap5-4	A	C	7: 142,303,910	S106R	unknown	Het
Lats1	T	C	10: 7,705,671	V740A	probably damaging	Het
Mcm9	C	A	10: 53,629,945	G78C	probably damaging	Het
Mn1	G	A	5: 111,421,547	E1128K	possibly damaging	Het
Myo1f	G	A	17: 33,593,003	R592H	possibly damaging	Het
Nfat5	G	T	8: 107,367,514	A277S	probably damaging	Het
Nfkbia	T	A	12: 55,490,542	Y254F	probably damaging	Het
Nr3c2	A	T	8: 76,909,214	N315Y	probably damaging	Het
Otof	T	C	5: 30,405,216	M258V	probably benign	Het
Panx3	C	T	9: 37,661,471	C261Y	probably damaging	Het
Pdia2	C	A	17: 26,198,922	G38W	probably damaging	Het
Psg19	G	T	7: 18,794,046	Y257*	probably null	Het
Ptpre	A	T	7: 135,678,325	K586*	probably null	Het
Reps1	A	G	10: 18,124,895	R752G	probably damaging	Het
Rpgrip1	T	A	14: 52,131,176	D277E	possibly damaging	Het
Rpl21-ps6	A	G	17: 55,915,671		noncoding transcript	Het
Serpinf2	T	A	11: 75,436,507	E198V	possibly damaging	Het
Sh3tc1	A	G	5: 35,703,375	L1046P	probably damaging	Het
Snw1	T	C	12: 87,450,941	E426G	probably benign	Het
Sord	T	A	2: 122,264,083	N317K	probably benign	Het
Taar3	A	T	10: 23,950,432	D292V	probably damaging	Het
Tdrd3	C	A	14: 87,472,182	T94K	probably damaging	Het
Ttn	C	A	2: 76,856,821	E736*	probably null	Het
Usp32	A	G	11: 85,039,265	V562A	probably damaging	Het
Vmn1r169	T	G	7: 23,577,186	M1R	probably null	Het
Vmn2r3	C	T	3: 64,259,883	C609Y	probably damaging	Het
Vmn2r69	T	C	7: 85,406,531	T800A	probably benign	Het
Vmn2r72	G	A	7: 85,738,334	T674I	probably benign	Het
Zfp160	T	A	17: 21,020,826	M52K	possibly damaging	Het
Zfp607a	T	A	7: 27,878,617	C371S	probably damaging	Het

Other mutations in Ccdc7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Ccdc7a	APN	8	129026754	splice site	probably benign
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
R6778:Ccdc7a	UTSW	8	128821120	missense	possibly damaging	0.66
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
R8696:Ccdc7a	UTSW	8	128988763	missense	probably damaging	0.96
R8813:Ccdc7a	UTSW	8	128823461	missense	possibly damaging	0.83
R8859:Ccdc7a	UTSW	8	129061632	missense	probably benign	0.44
R9208:Ccdc7a	UTSW	8	128746001	missense	possibly damaging	0.66
R9222:Ccdc7a	UTSW	8	128799129	missense	unknown
R9262:Ccdc7a	UTSW	8	128759796	missense	possibly damaging	0.66
R9299:Ccdc7a	UTSW	8	128889838	missense	probably benign	0.27
R9337:Ccdc7a	UTSW	8	128889838	missense	probably benign	0.27
R9357:Ccdc7a	UTSW	8	128944655	critical splice acceptor site	probably null
R9516:Ccdc7a	UTSW	8	128829293	missense	unknown
R9579:Ccdc7a	UTSW	8	129047653	nonsense	probably null
R9672:Ccdc7a	UTSW	8	128944535	missense	unknown
R9777:Ccdc7a	UTSW	8	128892379	missense	possibly damaging	0.90
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

Posted On

2013-06-28