Incidental Mutation 'IGL02329:Ccdc169'
ID288607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc169
Ensembl Gene ENSMUSG00000048655
Gene Namecoiled-coil domain containing 169
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #IGL02329
Quality Score
Status
Chromosome3
Chromosomal Location55137339-55172935 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55171281 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 188 (M188V)
Ref Sequence ENSEMBL: ENSMUSP00000054771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052904] [ENSMUST00000061099] [ENSMUST00000118963] [ENSMUST00000159904] [ENSMUST00000161120]
Predicted Effect probably benign
Transcript: ENSMUST00000052904
AA Change: M106V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049698
Gene: ENSMUSG00000048655
AA Change: M106V

DomainStartEndE-ValueType
Pfam:DUF4600 1 100 2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061099
AA Change: M188V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054771
Gene: ENSMUSG00000048655
AA Change: M188V

DomainStartEndE-ValueType
Pfam:DUF4600 54 181 1.8e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118963
SMART Domains Protein: ENSMUSP00000112414
Gene: ENSMUSG00000048655

DomainStartEndE-ValueType
Pfam:DUF4600 53 182 1.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159904
SMART Domains Protein: ENSMUSP00000123900
Gene: ENSMUSG00000048655

DomainStartEndE-ValueType
Pfam:DUF4600 1 79 1.1e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161120
SMART Domains Protein: ENSMUSP00000125131
Gene: ENSMUSG00000048655

DomainStartEndE-ValueType
Pfam:DUF4600 1 79 1.1e-32 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik A T 1: 177,743,301 Q67L probably benign Het
Atg2a T C 19: 6,249,929 probably null Het
Bfsp1 T C 2: 143,862,646 T96A probably benign Het
Btnl1 A G 17: 34,382,265 E322G possibly damaging Het
Cand2 T C 6: 115,789,607 V391A probably damaging Het
Cngb1 T C 8: 95,242,359 I1174V probably benign Het
Cpeb4 T C 11: 31,872,316 V10A possibly damaging Het
Cpt1b T C 15: 89,423,739 T206A probably benign Het
Dapk3 T C 10: 81,190,165 S97P probably benign Het
Drc3 T C 11: 60,370,578 L185P probably damaging Het
Efr3b T C 12: 3,992,923 probably null Het
Erbb3 T A 10: 128,573,219 I742F probably damaging Het
Fktn A G 4: 53,720,181 Y65C probably benign Het
Fstl5 G A 3: 76,588,995 G355D probably damaging Het
Grm8 A T 6: 27,363,116 I800N probably damaging Het
Gss C T 2: 155,567,853 R221H probably benign Het
H2-M10.4 A T 17: 36,460,467 V273D probably damaging Het
Large1 C A 8: 73,048,317 W255L possibly damaging Het
Meig1 T C 2: 3,409,251 K71E probably damaging Het
Mtor A G 4: 148,534,939 N1760D probably benign Het
Ncapd2 A T 6: 125,189,818 N24K probably damaging Het
Nphp3 A C 9: 104,025,968 S715R probably benign Het
Papolg T G 11: 23,891,869 H18P probably damaging Het
Psd T C 19: 46,319,659 H667R possibly damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rtp1 T C 16: 23,431,193 S103P probably damaging Het
Snx21 T C 2: 164,792,390 probably benign Het
Tiam1 G T 16: 89,800,036 H301N probably benign Het
Trcg1 A T 9: 57,240,393 I11F possibly damaging Het
Trpm6 A G 19: 18,854,217 K1482R probably benign Het
Tyw1 G T 5: 130,267,080 G116V probably benign Het
Zfp341 T C 2: 154,632,304 C343R possibly damaging Het
Other mutations in Ccdc169
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Ccdc169 APN 3 55171318 missense possibly damaging 0.85
IGL01662:Ccdc169 APN 3 55163311 splice site probably null
IGL02223:Ccdc169 APN 3 55142300 missense probably benign
IGL02272:Ccdc169 APN 3 55150748 missense probably damaging 0.99
R4603:Ccdc169 UTSW 3 55150805 missense probably benign 0.01
R5347:Ccdc169 UTSW 3 55142319 splice site probably benign
R5798:Ccdc169 UTSW 3 55140124 missense possibly damaging 0.94
R5951:Ccdc169 UTSW 3 55140141 missense probably damaging 0.99
R6562:Ccdc169 UTSW 3 55150814 missense probably damaging 0.98
R7599:Ccdc169 UTSW 3 55140109 missense probably damaging 0.99
X0011:Ccdc169 UTSW 3 55157082 missense probably damaging 1.00
Posted On2015-04-16