Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01633:Ccdc174'

93661

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 #

IGL01633

Quality Score

Status

Chromosome

Chromosomal Location

91855034-91876824 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 91857343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000049280 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000037783

SMART Domains

Protein: ENSMUSP00000049280
Gene: ENSMUSG00000034083

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: ENSMUST00000138868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206250

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,334,406 (GRCm39)	S1868T	possibly damaging	Het
Abca3	G	A	17: 24,616,327 (GRCm39)	W923*	probably null	Het
Abca8b	A	G	11: 109,827,580 (GRCm39)	M1476T	probably damaging	Het
Abi3bp	T	C	16: 56,498,163 (GRCm39)	F729S	probably damaging	Het
Acacb	T	C	5: 114,356,919 (GRCm39)		probably benign	Het
Aldh3a2	A	G	11: 61,139,731 (GRCm39)	L467P	probably benign	Het
Appl1	T	C	14: 26,684,795 (GRCm39)	T85A	probably damaging	Het
Aspm	T	A	1: 139,408,574 (GRCm39)	I2487N	possibly damaging	Het
Bcl2a1c	G	A	9: 114,159,290 (GRCm39)	V23I	probably benign	Het
C2cd2	T	A	16: 97,676,323 (GRCm39)		probably benign	Het
Carmil3	A	T	14: 55,731,684 (GRCm39)	H170L	possibly damaging	Het
Ccdc141	C	T	2: 76,919,593 (GRCm39)	V305I	probably benign	Het
Cep126	T	G	9: 8,103,320 (GRCm39)	Q230P	possibly damaging	Het
Chrm1	T	C	19: 8,655,859 (GRCm39)	I188T	probably benign	Het
Depdc5	T	C	5: 33,081,544 (GRCm39)	S569P	probably damaging	Het
Drc1	G	A	5: 30,503,007 (GRCm39)	E177K	probably damaging	Het
Duox1	A	G	2: 122,164,279 (GRCm39)	E913G	probably benign	Het
Fbxw9	T	C	8: 85,791,055 (GRCm39)	S241P	probably damaging	Het
Fez2	C	A	17: 78,712,147 (GRCm39)		probably benign	Het
Fga	G	T	3: 82,937,606 (GRCm39)	R161L	possibly damaging	Het
Fn3krp	G	T	11: 121,320,533 (GRCm39)	G293*	probably null	Het
Gfra1	C	T	19: 58,255,479 (GRCm39)	E318K	probably benign	Het
Gli3	C	T	13: 15,823,219 (GRCm39)	P314S	probably damaging	Het
Gm5114	A	T	7: 39,057,490 (GRCm39)	S710T	probably benign	Het
Gpr141	T	C	13: 19,936,769 (GRCm39)	D2G	probably benign	Het
Inppl1	G	A	7: 101,483,041 (GRCm39)	Q63*	probably null	Het
Lrrc73	T	A	17: 46,566,657 (GRCm39)	V169E	possibly damaging	Het
Lsm11	C	T	11: 45,824,615 (GRCm39)	R304Q	probably benign	Het
Macf1	T	C	4: 123,395,964 (GRCm39)	D788G	probably damaging	Het
Nbas	T	A	12: 13,533,898 (GRCm39)	D1844E	probably damaging	Het
Nt5c	A	G	11: 115,382,161 (GRCm39)	F73L	probably damaging	Het
Osmr	A	T	15: 6,854,085 (GRCm39)	I541N	probably damaging	Het
Phrf1	A	G	7: 140,840,413 (GRCm39)	I1203V	probably benign	Het
Pram1	C	A	17: 33,861,109 (GRCm39)	P510Q	possibly damaging	Het
Prepl	A	G	17: 85,379,444 (GRCm39)	Y415H	probably benign	Het
Prss27	A	T	17: 24,264,650 (GRCm39)	H271L	probably damaging	Het
Ptpn18	A	G	1: 34,510,989 (GRCm39)	S287G	probably benign	Het
Ptprq	T	C	10: 107,535,584 (GRCm39)		probably benign	Het
Sars2	A	G	7: 28,446,974 (GRCm39)	K218E	probably benign	Het
Senp6	G	T	9: 79,999,676 (GRCm39)	S31I	probably damaging	Het
Shld2	G	T	14: 33,971,136 (GRCm39)	T31K	probably damaging	Het
Skint6	C	A	4: 113,095,246 (GRCm39)	V138F	probably damaging	Het
Slc4a8	C	A	15: 100,685,128 (GRCm39)	H168N	probably damaging	Het
Tbx15	T	G	3: 99,220,358 (GRCm39)	I150S	probably damaging	Het
Tbxas1	A	G	6: 38,959,125 (GRCm39)	N103D	probably benign	Het
Tmc5	A	G	7: 118,222,809 (GRCm39)	N170D	probably damaging	Het
Tmem108	A	T	9: 103,361,950 (GRCm39)	N545K	probably benign	Het
Trub1	A	G	19: 57,441,616 (GRCm39)	K80E	possibly damaging	Het
Tulp3	A	T	6: 128,302,923 (GRCm39)	Y299N	probably damaging	Het

Other mutations in Ccdc174

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02391:Ccdc174	APN	6	91,875,263 (GRCm39)	missense	possibly damaging	0.72
IGL02619:Ccdc174	APN	6	91,876,538 (GRCm39)	missense	possibly damaging	0.70
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

2013-12-09