Incidental Mutation 'IGL01366:Ccdc167'
ID75943
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc167
Ensembl Gene ENSMUSG00000024018
Gene Namecoiled-coil domain containing 167
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL01366
Quality Score
Status
Chromosome17
Chromosomal Location29689378-29717012 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29705312 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 50 (E50G)
Ref Sequence ENSEMBL: ENSMUSP00000116591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024816] [ENSMUST00000123502] [ENSMUST00000128751] [ENSMUST00000129091] [ENSMUST00000130871] [ENSMUST00000131807] [ENSMUST00000137079]
Predicted Effect probably benign
Transcript: ENSMUST00000024816
SMART Domains Protein: ENSMUSP00000024816
Gene: ENSMUSG00000024019

DomainStartEndE-ValueType
G_patch 84 130 1.93e-10 SMART
Pfam:FtsJ 231 448 9.5e-42 PFAM
SCOP:d1ckma2 625 718 4e-3 SMART
WW 752 785 2.05e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123502
AA Change: E49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119013
Gene: ENSMUSG00000024018
AA Change: E49G

DomainStartEndE-ValueType
Pfam:CCDC-167 9 92 7.6e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128751
AA Change: E50G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123612
Gene: ENSMUSG00000024018
AA Change: E50G

DomainStartEndE-ValueType
Pfam:CCDC-167 9 93 2.4e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129091
AA Change: E50G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116591
Gene: ENSMUSG00000024018
AA Change: E50G

DomainStartEndE-ValueType
Pfam:CCDC-167 10 93 3.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130871
SMART Domains Protein: ENSMUSP00000117838
Gene: ENSMUSG00000098374

DomainStartEndE-ValueType
FHA 37 92 5.55e-8 SMART
low complexity region 116 130 N/A INTRINSIC
low complexity region 299 317 N/A INTRINSIC
RING 406 443 3.64e-7 SMART
G_patch 524 570 1.93e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131807
SMART Domains Protein: ENSMUSP00000120238
Gene: ENSMUSG00000024018

DomainStartEndE-ValueType
Pfam:CCDC-167 5 49 2.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137079
SMART Domains Protein: ENSMUSP00000115603
Gene: ENSMUSG00000024018

DomainStartEndE-ValueType
Pfam:CCDC-167 9 53 1.1e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138939
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,950,700 probably benign Het
Adamts2 T C 11: 50,796,468 Y1041H probably damaging Het
Adck5 A C 15: 76,595,616 *568C probably null Het
AK157302 T A 13: 21,495,301 probably benign Het
Bmpr2 G T 1: 59,813,677 G56W probably damaging Het
Capn11 A C 17: 45,653,200 I146S probably damaging Het
Ccdc162 A T 10: 41,580,306 D1613E possibly damaging Het
Col5a2 G T 1: 45,391,888 P864Q possibly damaging Het
Col7a1 C T 9: 108,977,119 probably benign Het
Crebbp T A 16: 4,126,506 H556L probably damaging Het
Dcpp1 T A 17: 23,882,736 I153N possibly damaging Het
Dgke C T 11: 89,055,386 R196H probably benign Het
Efr3a T A 15: 65,851,150 I459K probably benign Het
Espl1 T A 15: 102,319,836 C1682S probably benign Het
Exosc3 C T 4: 45,317,747 R185H probably damaging Het
Fam160b2 G A 14: 70,585,373 R688C probably damaging Het
Fgd6 T C 10: 94,043,476 V64A possibly damaging Het
Gata3 A G 2: 9,877,465 L42P probably damaging Het
Ggta1 C A 2: 35,402,450 E282* probably null Het
Ghr T C 15: 3,320,187 D503G probably damaging Het
Gls C T 1: 52,168,399 G602D probably damaging Het
Gm2058 A G 7: 39,589,234 noncoding transcript Het
Grb7 T C 11: 98,452,274 probably benign Het
Ifngr1 A T 10: 19,609,600 H449L probably damaging Het
Ighg2b T G 12: 113,307,036 D158A possibly damaging Het
Nphs2 T C 1: 156,311,035 V83A probably benign Het
Parp6 T A 9: 59,636,713 M390K possibly damaging Het
Pask T C 1: 93,310,852 K1304E probably benign Het
Scai A G 2: 39,106,961 S274P probably benign Het
Sik2 A G 9: 50,907,463 S404P probably damaging Het
Slc7a8 A T 14: 54,781,188 I47N probably damaging Het
Tas2r113 A T 6: 132,893,797 I263F probably benign Het
Tdrd1 T A 19: 56,855,302 D737E probably benign Het
Trio T C 15: 27,732,868 T2976A possibly damaging Het
Ttc28 T C 5: 111,085,171 probably null Het
Vmn1r21 A G 6: 57,843,814 I215T probably benign Het
Other mutations in Ccdc167
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01996:Ccdc167 APN 17 29705487 critical splice donor site probably null
R0591:Ccdc167 UTSW 17 29705261 intron probably benign
R1961:Ccdc167 UTSW 17 29704431 missense possibly damaging 0.95
R5187:Ccdc167 UTSW 17 29705511 missense possibly damaging 0.84
R6301:Ccdc167 UTSW 17 29705582 missense probably damaging 1.00
R7343:Ccdc167 UTSW 17 29705543 missense probably damaging 0.99
R7749:Ccdc167 UTSW 17 29705273 missense possibly damaging 0.94
Posted On2013-10-07