Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03395:Ccdc124'

421234

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc124

Ensembl Gene

ENSMUSG00000007721

Gene Name

coiled-coil domain containing 124

Synonyms

1810023B24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03395

Quality Score

Status

Chromosome

Chromosomal Location

71320870-71326134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 71321251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 163 (M163R)

Ref Sequence

ENSEMBL: ENSMUSP00000007865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007865] [ENSMUST00000212680]

AlphaFold

Q9D8X2

Predicted Effect

probably benign
Transcript: ENSMUST00000007865
AA Change: M163R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000007865
Gene: ENSMUSG00000007721
AA Change: M163R

Domain	Start	End	E-Value	Type
Pfam:DUF1014	6	208	1.4e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000050921

SMART Domains

Protein: ENSMUSP00000050112
Gene: ENSMUSG00000020887

Domain	Start	End	E-Value	Type
low complexity region	64	85	N/A	INTRINSIC
transmembrane domain	104	123	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212680

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	G	11: 102,663,746 (GRCm39)	D308G	probably damaging	Het
Adgrg3	A	T	8: 95,761,701 (GRCm39)	I155F	probably damaging	Het
Ado	T	C	10: 67,384,368 (GRCm39)	Y79C	probably benign	Het
Aox1	T	C	1: 58,107,884 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,528,734 (GRCm39)	D165E	probably damaging	Het
Ceacam5	T	C	7: 17,479,304 (GRCm39)		probably benign	Het
Cenpq	A	G	17: 41,234,449 (GRCm39)	L247P	probably damaging	Het
Crat	A	G	2: 30,294,978 (GRCm39)	V479A	probably benign	Het
Egfr	T	C	11: 16,860,261 (GRCm39)		probably benign	Het
Elapor2	A	T	5: 9,472,359 (GRCm39)	Q352L	probably damaging	Het
Emc9	C	T	14: 55,822,197 (GRCm39)	A72T	probably benign	Het
Fbxo5	G	A	10: 5,751,935 (GRCm39)	S226F	probably benign	Het
Gm42688	A	C	6: 83,085,352 (GRCm39)	E737D	possibly damaging	Het
Got1l1	G	T	8: 27,690,885 (GRCm39)	H54Q	probably benign	Het
Grid2	G	A	6: 63,886,053 (GRCm39)	V150I	possibly damaging	Het
Klc4	C	T	17: 46,943,789 (GRCm39)	V506M	probably damaging	Het
Lrrc8c	A	G	5: 105,754,495 (GRCm39)	N90S	probably benign	Het
Lrrk2	T	A	15: 91,681,617 (GRCm39)		probably null	Het
Mbd6	G	A	10: 127,119,286 (GRCm39)	R950C	probably damaging	Het
Nol11	A	G	11: 107,066,548 (GRCm39)	V414A	probably benign	Het
Or7e178	A	T	9: 20,225,847 (GRCm39)	M123K	probably damaging	Het
Pcnt	T	C	10: 76,272,325 (GRCm39)	E177G	possibly damaging	Het
Pcnx2	G	T	8: 126,614,262 (GRCm39)	D396E	probably benign	Het
Pcyt2	A	T	11: 120,503,876 (GRCm39)		probably null	Het
Pds5a	T	C	5: 65,809,792 (GRCm39)	D390G	possibly damaging	Het
Pik3r2	T	C	8: 71,224,999 (GRCm39)	T155A	probably benign	Het
Rab31	T	A	17: 66,003,362 (GRCm39)	H95L	probably benign	Het
Rfx5	C	T	3: 94,865,113 (GRCm39)	R259*	probably null	Het
Slc6a17	T	C	3: 107,384,622 (GRCm39)	D285G	probably damaging	Het
Spats2l	A	T	1: 57,977,175 (GRCm39)	I318F	probably damaging	Het
Spef1l	G	T	7: 139,556,589 (GRCm39)		probably benign	Het
Tcf12	A	G	9: 71,783,304 (GRCm39)	S361P	probably damaging	Het

Other mutations in Ccdc124

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03153:Ccdc124	APN	8	71,321,573 (GRCm39)	splice site	probably null
R1918:Ccdc124	UTSW	8	71,321,588 (GRCm39)	missense	probably benign
R2357:Ccdc124	UTSW	8	71,321,179 (GRCm39)	missense	probably damaging	1.00
R4981:Ccdc124	UTSW	8	71,321,429 (GRCm39)	missense	probably benign	0.06
R7223:Ccdc124	UTSW	8	71,321,170 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02