Mutagenetix > Incidental Mutation

Incidental Mutation 'R0612:Ccdc174'

54808

Institutional Source

Beutler Lab

Gene Symbol

Ccdc174

Ensembl Gene

ENSMUSG00000034083

Gene Name

coiled-coil domain containing 174

Synonyms

MMRRC Submission

038801-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0612 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91878053-91899843 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 91890892 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146317 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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: ENSMUST00000139240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147188

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151378

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.2%
20x: 93.5%

Validation Efficiency

98% (92/94)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	G	11: 58,611,973		probably null	Het
Abca15	T	C	7: 120,337,255	L181P	probably damaging	Het
Aldh3a1	A	T	11: 61,214,619	I184F	probably damaging	Het
Arl6ip4	A	G	5: 124,116,533	S30G	probably benign	Het
Atp9b	T	C	18: 80,753,956	E891G	possibly damaging	Het
Brsk1	T	C	7: 4,707,426	L478P	possibly damaging	Het
Btaf1	G	A	19: 36,969,137	V448I	probably damaging	Het
C330027C09Rik	C	T	16: 48,999,039	A112V	probably benign	Het
Cab39	T	C	1: 85,818,515		probably null	Het
Cacna2d4	G	T	6: 119,281,718		probably benign	Het
Capzb	C	T	4: 139,291,029	S253L	probably benign	Het
Ccdc180	C	T	4: 45,927,969	A1168V	probably damaging	Het
Cdh19	T	C	1: 110,893,170		probably benign	Het
Cdh8	T	C	8: 99,400,914	T22A	probably benign	Het
Cdk10	T	C	8: 123,230,680	V181A	probably benign	Het
Ceacam15	A	C	7: 16,673,520	L24*	probably null	Het
Cftr	A	C	6: 18,198,126	T20P	probably benign	Het
Clstn3	T	C	6: 124,449,500	T576A	probably damaging	Het
Col1a2	G	A	6: 4,516,003	V165I	unknown	Het
Copg2	A	T	6: 30,861,469		probably null	Het
Cps1	A	G	1: 67,139,770	H47R	probably benign	Het
Cytip	T	C	2: 58,134,190	D206G	possibly damaging	Het
Dnmt1	C	T	9: 20,918,193	E824K	probably damaging	Het
Dock7	A	C	4: 98,989,233	V442G	probably benign	Het
Dsc1	T	G	18: 20,114,516	K14T	probably damaging	Het
Dync1h1	C	T	12: 110,616,496	P371L	probably damaging	Het
Enah	A	G	1: 181,906,448		probably benign	Het
Fam189a1	C	T	7: 64,761,801	V395M	probably benign	Het
Fastkd1	T	C	2: 69,712,383	T27A	probably benign	Het
Fcho1	A	G	8: 71,715,524	L248P	probably damaging	Het
Fezf1	A	T	6: 23,247,029	V268D	probably damaging	Het
Fgd2	T	A	17: 29,378,347	V547E	probably benign	Het
Flnb	T	A	14: 7,887,682		probably benign	Het
Gabrg3	A	G	7: 56,729,706	M316T	probably damaging	Het
Gigyf2	T	C	1: 87,449,080	F1265L	probably damaging	Het
Git2	A	G	5: 114,752,281	S271P	probably damaging	Het
Gm13103	G	T	4: 143,852,088		probably benign	Het
Gm14085	T	C	2: 122,521,698	M339T	probably damaging	Het
Gorab	T	C	1: 163,397,169	D21G	possibly damaging	Het
Gpr179	T	A	11: 97,338,438	T964S	possibly damaging	Het
Hdac5	A	G	11: 102,196,252	V1042A	possibly damaging	Het
Hoxa2	T	A	6: 52,163,560	T149S	probably damaging	Het
Igsf8	G	T	1: 172,319,407	*108L	probably null	Het
Il1rap	C	T	16: 26,701,105	T307M	possibly damaging	Het
Itih2	T	C	2: 10,117,394	D232G	probably benign	Het
Jak3	A	G	8: 71,683,377	Y607C	probably damaging	Het
Kcnh1	C	T	1: 192,277,053	P305L	probably damaging	Het
Lrrc7	T	A	3: 158,164,353	I644F	probably damaging	Het
Lrrn2	T	C	1: 132,937,728	L177P	probably damaging	Het
Map4k3	C	A	17: 80,602,193	K712N	probably damaging	Het
Med11	A	G	11: 70,452,084	T36A	probably benign	Het
Mmp14	A	G	14: 54,440,434	D504G	probably damaging	Het
Mob1a	A	G	6: 83,334,158	T120A	probably benign	Het
Mr1	T	A	1: 155,137,690	D47V	probably damaging	Het
Nacad	G	T	11: 6,601,382	A603E	possibly damaging	Het
Nwd1	T	A	8: 72,667,680	W524R	probably damaging	Het
Olfr1508	T	C	14: 52,463,551	T153A	probably benign	Het
Olfr525	T	A	7: 140,323,188	M163K	possibly damaging	Het
Olfr742	A	T	14: 50,515,482	T93S	probably benign	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pde6c	T	A	19: 38,133,246	C101S	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pdlim4	G	A	11: 54,068,887	R16C	probably damaging	Het
Pet2	G	A	X: 89,405,366	R386*	probably null	Het
Pfkp	A	G	13: 6,605,634		probably null	Het
Plcg2	T	A	8: 117,573,365	S225T	probably benign	Het
Pramel1	T	C	4: 143,397,531	S259P	probably damaging	Het
Rc3h2	T	C	2: 37,411,215	N92D	possibly damaging	Het
Ric8b	C	A	10: 85,001,881	N517K	probably damaging	Het
Rnf34	G	A	5: 122,864,174	R65H	probably damaging	Het
Rraga	C	T	4: 86,576,327	R137C	probably damaging	Het
Scube2	C	T	7: 109,804,764		probably benign	Het
Spata31d1d	T	C	13: 59,727,973	I583V	probably benign	Het
Suox	T	C	10: 128,670,656	E501G	probably benign	Het
Susd1	A	G	4: 59,390,561		probably benign	Het
Tac1	T	C	6: 7,555,653	S14P	probably damaging	Het
Tbc1d8	T	C	1: 39,372,515	E1080G	possibly damaging	Het
Tll1	A	C	8: 64,071,310	S447R	possibly damaging	Het
Tmem132e	G	A	11: 82,443,372	V662M	probably damaging	Het
Upf2	G	T	2: 6,034,098		probably benign	Het
Uspl1	A	G	5: 149,214,957	E989G	probably damaging	Het
Vmn1r58	T	C	7: 5,410,619	H204R	probably damaging	Het
Vmn2r25	A	T	6: 123,839,522	C367S	probably damaging	Het
Vps13b	A	T	15: 35,623,657	Q1240L	probably benign	Het
Xrcc1	C	T	7: 24,570,319		probably benign	Het
Yeats2	T	G	16: 20,186,425	V385G	probably benign	Het

Other mutations in Ccdc174

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01633:Ccdc174	APN	6	91880362	critical splice donor site	probably null
IGL02391:Ccdc174	APN	6	91898282	missense	possibly damaging	0.72
IGL02619:Ccdc174	APN	6	91899557	missense	possibly damaging	0.70
IGL02698:Ccdc174	APN	6	91890853	missense	probably benign
R0482:Ccdc174	UTSW	6	91895266	missense	probably benign	0.08
R0801:Ccdc174	UTSW	6	91895332	missense	possibly damaging	0.72
R1124:Ccdc174	UTSW	6	91899580	missense	probably benign	0.33
R1237:Ccdc174	UTSW	6	91890787	splice site	probably benign
R1388:Ccdc174	UTSW	6	91881244	splice site	probably null
R2176:Ccdc174	UTSW	6	91888089	missense	probably benign	0.01
R3914:Ccdc174	UTSW	6	91899357	missense	possibly damaging	0.70
R4342:Ccdc174	UTSW	6	91885356	nonsense	probably null
R4775:Ccdc174	UTSW	6	91890894	splice site	probably null
R4880:Ccdc174	UTSW	6	91899591	unclassified	probably benign
R5579:Ccdc174	UTSW	6	91881350	splice site	probably null
R5787:Ccdc174	UTSW	6	91881310	nonsense	probably null
R5869:Ccdc174	UTSW	6	91885418	utr 3 prime	probably benign
R6277:Ccdc174	UTSW	6	91880291	missense	probably damaging	1.00
R8492:Ccdc174	UTSW	6	91888157	missense	probably benign	0.03
RF008:Ccdc174	UTSW	6	91899366	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- AGGGCACAGCAAGCTTAGTGAGTC -3'
(R):5'- CAGGTTGTTCCCTGAGCACAGAAG -3'

Sequencing Primer
(F):5'- GCAAGCTTAGTGAGTCTCAGC -3'
(R):5'- GTTCCCTGAGCACAGAAGATTATG -3'

Posted On

2013-07-11