Incidental Mutation 'IGL02391:Ccdc174'
ID293852
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc174
Ensembl Gene ENSMUSG00000034083
Gene Namecoiled-coil domain containing 174
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02391
Quality Score
Status
Chromosome6
Chromosomal Location91878053-91899843 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 91898282 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 364 (E364G)
Ref Sequence ENSEMBL: ENSMUSP00000049280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037783] [ENSMUST00000136090]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037783
AA Change: E364G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000049280
Gene: ENSMUSG00000034083
AA Change: E364G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205974
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,553,352 N748Y probably damaging Het
Actbl2 A G 13: 111,255,167 D12G possibly damaging Het
Adamts10 T C 17: 33,528,811 S74P probably benign Het
Adprhl2 C T 4: 126,317,908 probably benign Het
Amn1 A G 6: 149,169,446 probably null Het
Antxr1 A T 6: 87,287,056 I144N probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cabp5 A T 7: 13,398,344 R13* probably null Het
Cacna1e A G 1: 154,421,113 Y1669H probably damaging Het
Ccdc18 C T 5: 108,136,052 P74S probably damaging Het
Clec3a C T 8: 114,425,500 S82L probably benign Het
Cnih3 A G 1: 181,406,513 D43G probably damaging Het
Dpp10 G A 1: 123,650,358 T128M probably damaging Het
Edar A T 10: 58,628,581 F79I probably damaging Het
Eif2ak4 T A 2: 118,420,791 H199Q probably benign Het
Fermt1 A G 2: 132,941,951 L46P probably damaging Het
Glipr1 A G 10: 111,988,894 probably benign Het
Gsdmc T C 15: 63,803,579 N129S probably damaging Het
Ift88 T C 14: 57,481,414 S619P possibly damaging Het
Itga9 T A 9: 118,850,805 V262E probably benign Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mta1 T A 12: 113,136,583 I688N possibly damaging Het
Muc4 A T 16: 32,752,076 R651S probably benign Het
Olfr109 C T 17: 37,466,586 P127S probably damaging Het
Olfr1342 A G 4: 118,690,341 L37P probably damaging Het
Olfr824 A G 10: 130,126,904 V51A possibly damaging Het
Opcml A G 9: 28,675,264 I93V probably damaging Het
Parg T G 14: 32,262,681 probably null Het
Rps3a3 A G 13: 108,670,883 probably benign Het
Safb T A 17: 56,600,813 probably benign Het
Sat2 G T 11: 69,622,749 C54F probably damaging Het
Scin T A 12: 40,077,531 Y420F probably benign Het
Slc22a29 A T 19: 8,169,353 S362T probably benign Het
Smchd1 T C 17: 71,431,259 D537G probably null Het
Spred3 A G 7: 29,166,405 S126P probably benign Het
Ssh1 C T 5: 113,942,517 E951K probably damaging Het
Ssmem1 A G 6: 30,512,442 E28G possibly damaging Het
Stox1 A T 10: 62,659,676 probably benign Het
Syn3 T C 10: 86,064,906 I373V probably benign Het
Tecrl A T 5: 83,354,827 F58L probably benign Het
Trp53bp1 T C 2: 121,202,710 N1655S possibly damaging Het
Usp2 G T 9: 44,091,227 Q147H probably damaging Het
Usp24 T A 4: 106,407,129 N1751K possibly damaging Het
Wipf1 T A 2: 73,434,143 D438V probably damaging Het
Other mutations in Ccdc174
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01633:Ccdc174 APN 6 91880362 critical splice donor site probably null
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
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
RF008:Ccdc174 UTSW 6 91899366 missense possibly damaging 0.73
Posted On2015-04-16