Incidental Mutation 'R1388:Ccdc174'
ID 162490
Institutional Source Beutler Lab
Gene Symbol Ccdc174
Ensembl Gene ENSMUSG00000034083
Gene Name coiled-coil domain containing 174
Synonyms C130022K22Rik
MMRRC Submission 039450-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1388 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 91855034-91876824 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 91858225 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

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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot3 T G 12: 84,105,761 (GRCm39) H409Q possibly damaging Het
Adgra1 T C 7: 139,453,919 (GRCm39) V152A probably damaging Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Atxn7l3 C G 11: 102,183,261 (GRCm39) probably benign Het
Ccdc38 A T 10: 93,417,702 (GRCm39) probably benign Het
Clca4b A T 3: 144,622,415 (GRCm39) V550D probably benign Het
Dab2ip C T 2: 35,611,268 (GRCm39) probably benign Het
Gm17661 GA GAA 2: 90,917,709 (GRCm38) noncoding transcript Het
Gm2959 A T 14: 42,235,660 (GRCm39) noncoding transcript Het
Gmnc A G 16: 26,782,662 (GRCm39) L80P probably damaging Het
Gtf2ird1 T C 5: 134,424,564 (GRCm39) D394G probably damaging Het
Heatr1 T C 13: 12,432,328 (GRCm39) probably benign Het
Il1a T C 2: 129,148,501 (GRCm39) S70G possibly damaging Het
Kctd19 T C 8: 106,118,683 (GRCm39) S293G probably null Het
Klra4 T C 6: 130,039,198 (GRCm39) probably benign Het
Kplce G T 3: 92,776,356 (GRCm39) T109K probably damaging Het
Mr1 T C 1: 155,008,249 (GRCm39) E242G probably damaging Het
Mrnip C A 11: 50,087,772 (GRCm39) A98E probably benign Het
Mybpc3 C T 2: 90,953,219 (GRCm39) P155S probably benign Het
Myh14 A T 7: 44,314,546 (GRCm39) Y126N probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nup58 A T 14: 60,482,119 (GRCm39) probably benign Het
Or10g9 A G 9: 39,911,948 (GRCm39) S192P probably damaging Het
Or10j3 T C 1: 173,031,445 (GRCm39) V174A probably benign Het
Pnisr T C 4: 21,862,041 (GRCm39) M243T possibly damaging Het
Ptprr A G 10: 116,109,657 (GRCm39) S633G probably benign Het
Rasip1 T A 7: 45,279,656 (GRCm39) S300T probably damaging Het
Sbsn A T 7: 30,451,576 (GRCm39) H197L probably benign Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sim1 T A 10: 50,772,090 (GRCm39) I33N probably damaging Het
Speg A G 1: 75,407,104 (GRCm39) D2878G probably damaging Het
Taf2 T A 15: 54,900,021 (GRCm39) N864I probably benign Het
Tmem43 G T 6: 91,455,785 (GRCm39) probably null Het
Ttn T C 2: 76,542,135 (GRCm39) E25290G probably damaging Het
Ush2a A G 1: 188,255,515 (GRCm39) probably benign Het
Usp53 T C 3: 122,751,277 (GRCm39) E260G probably damaging Het
Vmn2r12 T G 5: 109,240,840 (GRCm39) Y91S possibly damaging Het
Vmn2r59 A T 7: 41,695,133 (GRCm39) N426K probably benign Het
Whamm C A 7: 81,236,038 (GRCm39) L414I probably damaging Het
Zfhx4 A G 3: 5,466,447 (GRCm39) T2227A probably damaging Het
Zfp866 C T 8: 70,218,834 (GRCm39) R262Q probably benign Het
Other mutations in Ccdc174
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- tttcttggcattccctaaaaaaatac -3'
Posted On 2014-03-17