Mutagenetix > Incidental Mutation

Incidental Mutation 'R1388:Ccdc174'

162490

Institutional Source

Beutler Lab

Gene Symbol

Ccdc174

Ensembl Gene

ENSMUSG00000034083

Gene Name

coiled-coil domain containing 174

Synonyms

MMRRC Submission

039450-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91878053-91899843 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 91881244 bp (GRCm38)

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.1%

Validation Efficiency

98% (47/48)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	G	T	3: 92,869,049	T109K	probably damaging	Het
Acot3	T	G	12: 84,058,987	H409Q	possibly damaging	Het
Adgra1	T	C	7: 139,874,003	V152A	probably damaging	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Atxn7l3	C	G	11: 102,292,435		probably benign	Het
Ccdc38	A	T	10: 93,581,840		probably benign	Het
Clca4b	A	T	3: 144,916,654	V550D	probably benign	Het
Dab2ip	C	T	2: 35,721,256		probably benign	Het
Gm17661	GA	GAA	2: 90,917,709		noncoding transcript	Het
Gm2959	A	T	14: 42,413,703		noncoding transcript	Het
Gmnc	A	G	16: 26,963,912	L80P	probably damaging	Het
Gtf2ird1	T	C	5: 134,395,710	D394G	probably damaging	Het
Heatr1	T	C	13: 12,417,447		probably benign	Het
Il1a	T	C	2: 129,306,581	S70G	possibly damaging	Het
Kctd19	T	C	8: 105,392,051	S293G	probably null	Het
Klra4	T	C	6: 130,062,235		probably benign	Het
Mr1	T	C	1: 155,132,503	E242G	probably damaging	Het
Mrnip	C	A	11: 50,196,945	A98E	probably benign	Het
Mybpc3	C	T	2: 91,122,874	P155S	probably benign	Het
Myh14	A	T	7: 44,665,122	Y126N	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr218	T	C	1: 173,203,878	V174A	probably benign	Het
Olfr979	A	G	9: 40,000,652	S192P	probably damaging	Het
Pnisr	T	C	4: 21,862,041	M243T	possibly damaging	Het
Ptprr	A	G	10: 116,273,752	S633G	probably benign	Het
Rasip1	T	A	7: 45,630,232	S300T	probably damaging	Het
Sbsn	A	T	7: 30,752,151	H197L	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Sim1	T	A	10: 50,895,994	I33N	probably damaging	Het
Speg	A	G	1: 75,430,460	D2878G	probably damaging	Het
Taf2	T	A	15: 55,036,625	N864I	probably benign	Het
Tmem43	G	T	6: 91,478,803		probably null	Het
Ttn	T	C	2: 76,711,791	E25290G	probably damaging	Het
Ush2a	A	G	1: 188,523,318		probably benign	Het
Usp53	T	C	3: 122,957,628	E260G	probably damaging	Het
Vmn2r12	T	G	5: 109,092,974	Y91S	possibly damaging	Het
Vmn2r59	A	T	7: 42,045,709	N426K	probably benign	Het
Whamm	C	A	7: 81,586,290	L414I	probably damaging	Het
Zfhx4	A	G	3: 5,401,387	T2227A	probably damaging	Het
Zfp866	C	T	8: 69,766,184	R262Q	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
R0612:Ccdc174	UTSW	6	91890892	splice site	probably benign
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
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'- GTTTACAGCTCCAGCTTTGTCATATGC -3'
(R):5'- AGTTGGCCCTTCATATCCAGAGTCC -3'

Sequencing Primer
(F):5'- TCATATGCTGATGGAGGCTG -3'
(R):5'- tttcttggcattccctaaaaaaatac -3'

Posted On

2014-03-17