Incidental Mutation 'IGL02223:Ccdc169'
ID285219
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: 0.072) question?
Stock #IGL02223
Quality Score
Status
Chromosome3
Chromosomal Location55137339-55172935 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55142300 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 48 (N48S)
Ref Sequence ENSEMBL: ENSMUSP00000112414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044116] [ENSMUST00000052904] [ENSMUST00000061099] [ENSMUST00000107971] [ENSMUST00000118118] [ENSMUST00000118963] [ENSMUST00000153009] [ENSMUST00000159904] [ENSMUST00000161120]
Predicted Effect probably benign
Transcript: ENSMUST00000044116
SMART Domains Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580

DomainStartEndE-ValueType
MIT 16 94 4.64e-18 SMART
SCOP:d1bw0a_ 158 254 8e-4 SMART
low complexity region 369 381 N/A INTRINSIC
low complexity region 408 426 N/A INTRINSIC
Pfam:Senescence 431 616 9.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052904
SMART Domains Protein: ENSMUSP00000049698
Gene: ENSMUSG00000048655

DomainStartEndE-ValueType
Pfam:DUF4600 1 100 2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061099
AA Change: N48S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054771
Gene: ENSMUSG00000048655
AA Change: N48S

DomainStartEndE-ValueType
Pfam:DUF4600 54 181 1.8e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107971
SMART Domains Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580

DomainStartEndE-ValueType
MIT 16 94 4.64e-18 SMART
SCOP:d1bw0a_ 158 254 9e-4 SMART
low complexity region 351 369 N/A INTRINSIC
Pfam:Senescence 373 560 3.2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118118
SMART Domains Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580

DomainStartEndE-ValueType
MIT 16 94 4.64e-18 SMART
SCOP:d1bw0a_ 158 254 8e-4 SMART
low complexity region 369 381 N/A INTRINSIC
low complexity region 408 426 N/A INTRINSIC
Pfam:Senescence 430 617 3.8e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118963
AA Change: N48S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112414
Gene: ENSMUSG00000048655
AA Change: N48S

DomainStartEndE-ValueType
Pfam:DUF4600 53 182 1.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153009
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,287,935 W1148* probably null Het
Adam17 A G 12: 21,361,705 S62P possibly damaging Het
Akap8 T C 17: 32,316,647 Y131C probably damaging Het
Ccdc151 G A 9: 21,993,612 R293C probably damaging Het
Ccdc80 A G 16: 45,095,603 T241A probably damaging Het
Cct7 G T 6: 85,462,041 M112I probably benign Het
Cftr G A 6: 18,221,482 A198T probably damaging Het
Crk T C 11: 75,703,379 V264A probably damaging Het
Ddx58 T C 4: 40,209,993 N692D possibly damaging Het
Dhx34 T C 7: 16,198,659 T1071A probably benign Het
Dlst A G 12: 85,130,918 I362V probably benign Het
Fat2 T C 11: 55,273,129 E3100G probably benign Het
Fbxo11 A G 17: 88,009,286 V323A probably benign Het
Foxe3 C A 4: 114,925,709 R102L probably damaging Het
Gale T C 4: 135,966,506 F162S probably damaging Het
Gipc2 G A 3: 152,128,050 P198L probably damaging Het
Gm5258 A G 1: 86,323,396 noncoding transcript Het
Gpatch11 A G 17: 78,845,179 T259A probably benign Het
H2-M10.3 T C 17: 36,368,080 N32S possibly damaging Het
Hdlbp T C 1: 93,412,449 I999V probably damaging Het
Ibtk A G 9: 85,710,366 probably benign Het
Ift46 A G 9: 44,786,312 S165G probably damaging Het
Igsf1 A G X: 49,785,020 S389P probably damaging Het
Lrrd1 A C 5: 3,850,211 N172T probably benign Het
Mamdc2 G A 19: 23,359,143 probably benign Het
Matn2 A G 15: 34,423,718 N574S probably benign Het
Med1 T C 11: 98,157,876 D683G probably damaging Het
Mon1a A G 9: 107,901,285 E236G probably damaging Het
Moxd2 T A 6: 40,885,033 I202F probably damaging Het
Nif3l1 T A 1: 58,448,043 Y129* probably null Het
Nlrp5 T C 7: 23,430,022 probably benign Het
Olfr177 C T 16: 58,872,694 G152E probably damaging Het
Pcx T C 19: 4,601,978 Y84H probably damaging Het
Pom121l2 T C 13: 21,982,095 S179P probably benign Het
Rexo4 C A 2: 26,955,499 C369F probably damaging Het
Scmh1 C A 4: 120,515,219 H406Q probably benign Het
Slc12a8 A G 16: 33,624,690 D372G probably damaging Het
Snip1 T C 4: 125,072,752 F325S possibly damaging Het
Spr-ps1 C T 6: 85,155,199 noncoding transcript Het
Stk36 A G 1: 74,623,337 Y538C possibly damaging Het
Svil A G 18: 5,105,879 probably benign Het
Syne2 A G 12: 76,108,305 T6787A probably benign Het
Tbcel T G 9: 42,451,718 M10L probably benign Het
Tesk2 T A 4: 116,741,825 Y43* probably null Het
Tjp1 C T 7: 65,322,601 R605Q probably damaging Het
Tmem65 A G 15: 58,790,151 probably benign Het
Tnnt2 A G 1: 135,842,015 probably benign Het
Trmt44 T C 5: 35,574,645 E134G probably benign Het
Trpv2 T C 11: 62,581,255 L91P probably benign Het
Ttn G A 2: 76,977,119 T90I probably damaging Het
Yy1 A G 12: 108,793,540 E43G unknown 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
IGL02272:Ccdc169 APN 3 55150748 missense probably damaging 0.99
IGL02329:Ccdc169 APN 3 55171281 missense probably benign
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