Incidental Mutation 'IGL01633:Ccdc174'
ID93661
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 #IGL01633
Quality Score
Status
Chromosome6
Chromosomal Location91878053-91899843 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 91880362 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000049280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037783] [ENSMUST00000136090]
Predicted Effect probably null
Transcript: ENSMUST00000037783
SMART Domains Protein: ENSMUSP00000049280
Gene: ENSMUSG00000034083

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: ENSMUST00000138868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206250
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T A 2: 25,444,394 S1868T possibly damaging Het
Abca3 G A 17: 24,397,353 W923* probably null Het
Abca8b A G 11: 109,936,754 M1476T probably damaging Het
Abi3bp T C 16: 56,677,800 F729S probably damaging Het
Acacb T C 5: 114,218,858 probably benign Het
Aldh3a2 A G 11: 61,248,905 L467P probably benign Het
Appl1 T C 14: 26,962,838 T85A probably damaging Het
Aspm T A 1: 139,480,836 I2487N possibly damaging Het
Bcl2a1c G A 9: 114,330,222 V23I probably benign Het
C2cd2 T A 16: 97,875,123 probably benign Het
Carmil3 A T 14: 55,494,227 H170L possibly damaging Het
Ccdc141 C T 2: 77,089,249 V305I probably benign Het
Cep126 T G 9: 8,103,319 Q230P possibly damaging Het
Chrm1 T C 19: 8,678,495 I188T probably benign Het
Depdc5 T C 5: 32,924,200 S569P probably damaging Het
Drc1 G A 5: 30,345,663 E177K probably damaging Het
Duox1 A G 2: 122,333,798 E913G probably benign Het
Fam35a G T 14: 34,249,179 T31K probably damaging Het
Fbxw9 T C 8: 85,064,426 S241P probably damaging Het
Fez2 C A 17: 78,404,718 probably benign Het
Fga G T 3: 83,030,299 R161L possibly damaging Het
Fn3krp G T 11: 121,429,707 G293* probably null Het
Gfra1 C T 19: 58,267,047 E318K probably benign Het
Gli3 C T 13: 15,648,634 P314S probably damaging Het
Gm5114 A T 7: 39,408,066 S710T probably benign Het
Gpr141 T C 13: 19,752,599 D2G probably benign Het
Inppl1 G A 7: 101,833,834 Q63* probably null Het
Lrrc73 T A 17: 46,255,731 V169E possibly damaging Het
Lsm11 C T 11: 45,933,788 R304Q probably benign Het
Macf1 T C 4: 123,502,171 D788G probably damaging Het
Nbas T A 12: 13,483,897 D1844E probably damaging Het
Nt5c A G 11: 115,491,335 F73L probably damaging Het
Osmr A T 15: 6,824,604 I541N probably damaging Het
Phrf1 A G 7: 141,260,500 I1203V probably benign Het
Pram1 C A 17: 33,642,135 P510Q possibly damaging Het
Prepl A G 17: 85,072,016 Y415H probably benign Het
Prss27 A T 17: 24,045,676 H271L probably damaging Het
Ptpn18 A G 1: 34,471,908 S287G probably benign Het
Ptprq T C 10: 107,699,723 probably benign Het
Sars2 A G 7: 28,747,549 K218E probably benign Het
Senp6 G T 9: 80,092,394 S31I probably damaging Het
Skint6 C A 4: 113,238,049 V138F probably damaging Het
Slc4a8 C A 15: 100,787,247 H168N probably damaging Het
Tbx15 T G 3: 99,313,042 I150S probably damaging Het
Tbxas1 A G 6: 38,982,191 N103D probably benign Het
Tmc5 A G 7: 118,623,586 N170D probably damaging Het
Tmem108 A T 9: 103,484,751 N545K probably benign Het
Trub1 A G 19: 57,453,184 K80E possibly damaging Het
Tulp3 A T 6: 128,325,960 Y299N probably damaging Het
Other mutations in Ccdc174
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2013-12-09