Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Ccdc7a'

661165

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

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128734235-129065517 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128920467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 648 (D648V)

Ref Sequence

ENSEMBL: ENSMUSP00000149790 (fasta)

Gene Model

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

AlphaFold

Q9D541

Predicted Effect

probably damaging
Transcript: ENSMUST00000214889
AA Change: D648V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,942,929	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759	L203*	probably null	Het
Ambp	A	T	4: 63,150,419	Y120*	probably null	Het
Ankrd36	C	T	11: 5,629,312	A192V	probably benign	Het
Apol7e	A	T	15: 77,717,603	M134L	probably benign	Het
Atg9b	A	T	5: 24,386,109	N774K	probably benign	Het
BC027072	G	T	17: 71,751,377	A435E	probably benign	Het
Catsperb	T	A	12: 101,594,337	N862K	possibly damaging	Het
Cfap54	G	T	10: 92,955,072	P1855T	unknown	Het
Clcnkb	T	A	4: 141,412,230	T154S	probably damaging	Het
Cux1	C	T	5: 136,250,600	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186	D413G	possibly damaging	Het
Flnc	T	C	6: 29,443,502		probably null	Het
Grm5	T	C	7: 88,116,290		probably null	Het
Hectd3	T	G	4: 116,996,581	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ikbkap	A	G	4: 56,771,453	L948P	probably damaging	Het
Larp4	C	A	15: 100,010,458	Q607K	probably benign	Het
March8	A	G	6: 116,401,854	R250G	probably benign	Het
Med13	A	C	11: 86,271,097	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933	R89*	probably null	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Myo18b	T	C	5: 112,874,743	Q261R	unknown	Het
Npr1	A	T	3: 90,456,157		probably benign	Het
Nynrin	T	A	14: 55,870,442	V1002E	possibly damaging	Het
Olfr1138	A	T	2: 87,737,646	L226Q	probably damaging	Het
Olfr1195	A	T	2: 88,683,105	F209Y	probably benign	Het
Olfr1315-ps1	T	A	2: 112,110,988	K88M	probably damaging	Het
Olfr167	T	C	16: 19,515,054	Y194C	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Prkd1	T	A	12: 50,388,408	N512I	probably benign	Het
Pwwp2b	C	T	7: 139,256,410	P589L	probably damaging	Het
Rasgrp4	G	A	7: 29,143,027	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,230,524	V480G	probably damaging	Het
Rptn	A	G	3: 93,398,194	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976	Q242*	probably null	Het
Slfn3	T	A	11: 83,212,999	V232E	probably benign	Het
Stab1	T	A	14: 31,157,408	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167	S480*	probably null	Het
Thsd4	A	T	9: 60,394,445	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,167,804	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765		probably benign	Het
Xcl1	T	C	1: 164,931,850	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937	Q443P	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGAGGTAGACATGTAACTATGTGC -3'
(R):5'- TCACAAAGGGCAATGGTGTG -3'

Sequencing Primer
(F):5'- ACCTGCTGAAGAGCCTAA -3'
(R):5'- GCAATGGTGTGGAAAACTTGTC -3'

Posted On

2021-03-08