Incidental Mutation 'R0801:Ccdc174'
ID 76277
Institutional Source Beutler Lab
Gene Symbol Ccdc174
Ensembl Gene ENSMUSG00000034083
Gene Name coiled-coil domain containing 174
Synonyms C130022K22Rik
MMRRC Submission 038981-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0801 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 91855034-91876824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91872313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 314 (E314G)
Ref Sequence ENSEMBL: ENSMUSP00000049280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037783] [ENSMUST00000136090]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000037783
AA Change: E314G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000049280
Gene: ENSMUSG00000034083
AA Change: E314G

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0610 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.6%
  • 20x: 94.7%
Validation Efficiency 98% (48/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik A G 10: 43,050,987 (GRCm39) K94E possibly damaging Het
Aldh16a1 A T 7: 44,796,900 (GRCm39) C228S probably benign Het
Arnt G T 3: 95,401,157 (GRCm39) R702L possibly damaging Het
Ccdc81 T C 7: 89,536,866 (GRCm39) probably null Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Cenpm A T 15: 82,118,667 (GRCm39) I149N probably benign Het
Cfap44 C T 16: 44,242,849 (GRCm39) S751L probably benign Het
Cntrl A G 2: 35,065,107 (GRCm39) probably benign Het
Col1a2 A G 6: 4,531,316 (GRCm39) T762A unknown Het
Crebbp T C 16: 3,906,140 (GRCm39) K1621E probably damaging Het
Cux1 T A 5: 136,355,783 (GRCm39) I374L probably damaging Het
Dgkq A T 5: 108,808,586 (GRCm39) probably null Het
Dis3l T C 9: 64,226,436 (GRCm39) I365V probably benign Het
Dock2 T C 11: 34,599,620 (GRCm39) R320G probably damaging Het
Dst A G 1: 34,209,470 (GRCm39) N853S probably damaging Het
Egf T C 3: 129,496,234 (GRCm39) probably benign Het
Eif2ak2 T A 17: 79,173,778 (GRCm39) R267* probably null Het
Ern2 A G 7: 121,780,085 (GRCm39) probably benign Het
Ero1b A G 13: 12,596,568 (GRCm39) S123G probably benign Het
Fam13a G T 6: 58,960,997 (GRCm39) N118K probably benign Het
Gcn1 T A 5: 115,729,065 (GRCm39) M792K probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf3 C T 7: 44,650,058 (GRCm39) probably benign Het
Map2k5 T A 9: 63,265,261 (GRCm39) probably benign Het
Mcf2l T A 8: 13,064,020 (GRCm39) probably benign Het
Mdga2 A T 12: 66,533,507 (GRCm39) I878K probably damaging Het
Mdn1 T C 4: 32,668,895 (GRCm39) S318P probably benign Het
Or13a19 G A 7: 139,902,831 (GRCm39) C73Y probably damaging Het
Or5aq1b G A 2: 86,902,407 (GRCm39) Q24* probably null Het
Pklr G A 3: 89,052,829 (GRCm39) W527* probably null Het
Pnpla5 T C 15: 83,998,121 (GRCm39) M374V probably benign Het
Ptprn G T 1: 75,228,909 (GRCm39) H835Q probably damaging Het
R3hdm4 A G 10: 79,749,191 (GRCm39) probably benign Het
Rgs8 T A 1: 153,546,557 (GRCm39) C19S probably damaging Het
Smarca4 C A 9: 21,553,850 (GRCm39) Q575K possibly damaging Het
Srgap1 A T 10: 121,643,780 (GRCm39) F612L probably damaging Het
Svil A G 18: 5,099,443 (GRCm39) R1256G probably benign Het
Tox4 T C 14: 52,517,335 (GRCm39) S22P probably benign Het
Ttc39d A G 17: 80,523,644 (GRCm39) Y101C probably damaging Het
Usb1 T C 8: 96,060,168 (GRCm39) probably null Het
Vps13a T C 19: 16,664,020 (GRCm39) probably benign Het
Vps26a G A 10: 62,294,857 (GRCm39) probably benign Het
Zfp638 T A 6: 83,949,220 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- AGGCTTCTACTGTGCTCTGTGAGTT -3'
(R):5'- TGAGAGTGTCATTCTGAAACATTCCAGC -3'

Sequencing Primer
(F):5'- cgccaccattgcctgtc -3'
(R):5'- tcacagagaaagcaaaaagcac -3'
Posted On 2013-10-16