Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02619:Ccdc174'

300772

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc174

Ensembl Gene

ENSMUSG00000034083

Gene Name

coiled-coil domain containing 174

Synonyms

C130022K22Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02619

Quality Score

Status

Chromosome

Chromosomal Location

91855034-91876824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91876538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 458 (D458E)

Ref Sequence

ENSEMBL: ENSMUSP00000049280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037783] [ENSMUST00000136090] [ENSMUST00000205686]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037783
AA Change: D458E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000049280
Gene: ENSMUSG00000034083
AA Change: D458E

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
coiled coil region	64	98	N/A	INTRINSIC
low complexity region	137	152	N/A	INTRINSIC
Pfam:DUF4078	215	303	4.4e-32	PFAM
low complexity region	323	340	N/A	INTRINSIC
low complexity region	423	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136090

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147188

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151378

Predicted Effect

probably benign
Transcript: ENSMUST00000205686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205974

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit embryonic lethality at E7. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	C	T	1: 179,620,016 (GRCm39)	G220E	possibly damaging	Het
Arhgef10l	A	G	4: 140,321,504 (GRCm39)	I101T	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Camkk2	A	T	5: 122,902,298 (GRCm39)	C4S	probably damaging	Het
Cercam	A	G	2: 29,770,686 (GRCm39)	N419S	probably benign	Het
Clca3a2	T	C	3: 144,512,083 (GRCm39)	N551S	probably damaging	Het
Cldn18	T	A	9: 99,580,988 (GRCm39)	I87F	probably damaging	Het
Ctso	T	A	3: 81,848,836 (GRCm39)		probably benign	Het
Ddhd2	C	A	8: 26,236,981 (GRCm39)		probably null	Het
Dscaml1	T	A	9: 45,359,094 (GRCm39)	Y118N	probably damaging	Het
Ece1	C	T	4: 137,666,044 (GRCm39)	A296V	probably benign	Het
Fbxo40	T	A	16: 36,790,766 (GRCm39)	I115F	possibly damaging	Het
Fkbp9	T	A	6: 56,827,609 (GRCm39)	N143K	probably damaging	Het
Foxk2	G	T	11: 121,190,402 (GRCm39)		probably benign	Het
Ggnbp1	A	G	17: 27,248,529 (GRCm39)	K33E	probably benign	Het
Hace1	A	T	10: 45,547,530 (GRCm39)		probably benign	Het
Hk3	A	T	13: 55,162,107 (GRCm39)	C133S	probably damaging	Het
Kbtbd3	C	T	9: 4,331,252 (GRCm39)	A542V	probably damaging	Het
Lrch2	A	C	X: 146,263,537 (GRCm39)	V363G	probably damaging	Het
Lrch2	C	T	X: 146,302,131 (GRCm39)	C264Y	probably damaging	Het
Lrrc56	C	A	7: 140,787,546 (GRCm39)		probably benign	Het
Lrtm2	C	T	6: 119,294,199 (GRCm39)	V311M	probably damaging	Het
N4bp1	G	T	8: 87,587,529 (GRCm39)	Q470K	probably benign	Het
Naa15	A	C	3: 51,367,552 (GRCm39)	D575A	probably benign	Het
Ncaph	A	T	2: 126,969,456 (GRCm39)	V69D	probably damaging	Het
Nlrp5	G	A	7: 23,123,489 (GRCm39)		probably null	Het
Nmbr	A	G	10: 14,636,331 (GRCm39)	D100G	probably damaging	Het
Ofcc1	C	T	13: 40,250,553 (GRCm39)	V588M	possibly damaging	Het
Or4b13	G	T	2: 90,082,849 (GRCm39)	T161N	probably damaging	Het
Or5p4	C	A	7: 107,680,949 (GRCm39)		probably benign	Het
Osmr	C	A	15: 6,871,475 (GRCm39)	R314M	probably damaging	Het
Pcdhb16	C	T	18: 37,611,270 (GRCm39)	Q77*	probably null	Het
Pglyrp4	G	A	3: 90,642,955 (GRCm39)		probably null	Het
Ptprh	A	G	7: 4,552,498 (GRCm39)	F922S	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Rp1	T	A	1: 4,418,673 (GRCm39)	Q813L	possibly damaging	Het
Sgtb	A	G	13: 104,254,922 (GRCm39)	N64S	probably benign	Het
Slc5a12	T	C	2: 110,471,201 (GRCm39)	V481A	probably benign	Het
Slitrk1	A	G	14: 109,149,349 (GRCm39)	V454A	probably benign	Het
Sntg2	C	A	12: 30,317,025 (GRCm39)		probably null	Het
Synj1	C	T	16: 90,770,933 (GRCm39)	V499I	probably damaging	Het
Tmco1	T	C	1: 167,153,597 (GRCm39)		probably benign	Het
Tmem38b	T	C	4: 53,848,871 (GRCm39)	I92T	probably damaging	Het
Tmem9	T	C	1: 135,955,145 (GRCm39)	V93A	probably benign	Het
Ttn	T	A	2: 76,625,582 (GRCm39)	R15080S	possibly damaging	Het
Ube2e3	T	C	2: 78,749,065 (GRCm39)	I138T	probably damaging	Het
Urgcp	A	G	11: 5,665,752 (GRCm39)	I862T	possibly damaging	Het
Vmn1r68	A	T	7: 10,261,603 (GRCm39)	I165N	probably benign	Het
Washc4	G	A	10: 83,394,717 (GRCm39)	V316I	possibly damaging	Het
Zfp111	A	T	7: 23,899,113 (GRCm39)	L166Q	possibly damaging	Het
Zfyve1	A	T	12: 83,597,718 (GRCm39)		probably benign	Het
Zscan18	A	G	7: 12,508,793 (GRCm39)		probably benign	Het

Other mutations in Ccdc174

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01633:Ccdc174	APN	6	91,857,343 (GRCm39)	critical splice donor site	probably null
IGL02391:Ccdc174	APN	6	91,875,263 (GRCm39)	missense	possibly damaging	0.72
IGL02698:Ccdc174	APN	6	91,867,834 (GRCm39)	missense	probably benign
R0482:Ccdc174	UTSW	6	91,872,247 (GRCm39)	missense	probably benign	0.08
R0612:Ccdc174	UTSW	6	91,867,873 (GRCm39)	splice site	probably benign
R0801:Ccdc174	UTSW	6	91,872,313 (GRCm39)	missense	possibly damaging	0.72
R1124:Ccdc174	UTSW	6	91,876,561 (GRCm39)	missense	probably benign	0.33
R1237:Ccdc174	UTSW	6	91,867,768 (GRCm39)	splice site	probably benign
R1388:Ccdc174	UTSW	6	91,858,225 (GRCm39)	splice site	probably null
R2176:Ccdc174	UTSW	6	91,865,070 (GRCm39)	missense	probably benign	0.01
R3914:Ccdc174	UTSW	6	91,876,338 (GRCm39)	missense	possibly damaging	0.70
R4342:Ccdc174	UTSW	6	91,862,337 (GRCm39)	nonsense	probably null
R4775:Ccdc174	UTSW	6	91,867,875 (GRCm39)	splice site	probably null
R4880:Ccdc174	UTSW	6	91,876,572 (GRCm39)	unclassified	probably benign
R5579:Ccdc174	UTSW	6	91,858,331 (GRCm39)	splice site	probably null
R5787:Ccdc174	UTSW	6	91,858,291 (GRCm39)	nonsense	probably null
R5869:Ccdc174	UTSW	6	91,862,399 (GRCm39)	utr 3 prime	probably benign
R6277:Ccdc174	UTSW	6	91,857,272 (GRCm39)	missense	probably damaging	1.00
R8492:Ccdc174	UTSW	6	91,865,138 (GRCm39)	missense	probably benign	0.03
RF008:Ccdc174	UTSW	6	91,876,347 (GRCm39)	missense	possibly damaging	0.73

Posted On

2015-04-16