Incidental Mutation 'IGL00163:Cdadc1'
ID958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdadc1
Ensembl Gene ENSMUSG00000021982
Gene Namecytidine and dCMP deaminase domain containing 1
Synonyms2310010M10Rik, NYD-SP15
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.139) question?
Stock #IGL00163
Quality Score
Status
Chromosome14
Chromosomal Location59559388-59597959 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 59581369 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 337 (H337N)
Ref Sequence ENSEMBL: ENSMUSP00000153357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022555] [ENSMUST00000056997] [ENSMUST00000167100] [ENSMUST00000171683] [ENSMUST00000225595] [ENSMUST00000225839]
Predicted Effect probably damaging
Transcript: ENSMUST00000022555
AA Change: H337N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022555
Gene: ENSMUSG00000021982
AA Change: H337N

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 73 153 9.2e-8 PFAM
Pfam:dCMP_cyt_deam_1 317 446 4.2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000056997
AA Change: H337N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052233
Gene: ENSMUSG00000021982
AA Change: H337N

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 73 153 9.8e-8 PFAM
Pfam:dCMP_cyt_deam_1 317 446 4.6e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167100
AA Change: H337N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128022
Gene: ENSMUSG00000021982
AA Change: H337N

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 74 153 4.9e-9 PFAM
Pfam:dCMP_cyt_deam_1 317 446 1.1e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171683
AA Change: H337N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128064
Gene: ENSMUSG00000021982
AA Change: H337N

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 74 153 1.4e-8 PFAM
Pfam:dCMP_cyt_deam_1 317 446 3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225103
Predicted Effect probably benign
Transcript: ENSMUST00000225595
Predicted Effect probably damaging
Transcript: ENSMUST00000225839
AA Change: H337N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik G A 4: 88,868,073 Q103* probably null Het
4933406P04Rik C A 10: 20,311,224 probably benign Het
Adgrg6 T C 10: 14,467,450 E251G probably damaging Het
AF529169 A T 9: 89,591,097 probably benign Het
Ago2 T C 15: 73,126,453 H292R probably benign Het
Akr1c6 T C 13: 4,448,978 probably benign Het
Arhgap24 T A 5: 102,860,399 M62K possibly damaging Het
Bicd1 A G 6: 149,550,390 H834R possibly damaging Het
Ccdc77 G T 6: 120,329,084 probably benign Het
Cep192 A G 18: 67,880,800 T2424A possibly damaging Het
Cep78 T C 19: 15,969,140 T443A probably benign Het
Chrna1 T A 2: 73,570,642 E181D probably benign Het
Dmxl1 G A 18: 49,851,467 D177N probably damaging Het
Eif3h T A 15: 51,786,799 I330F probably damaging Het
Fam184b T C 5: 45,539,749 E691G probably benign Het
Fastkd1 T A 2: 69,707,549 S230C probably benign Het
Gipc2 T C 3: 152,137,578 I141V probably damaging Het
Hsd17b2 A T 8: 117,758,671 D291V probably damaging Het
Itpr2 G A 6: 146,390,836 A420V possibly damaging Het
Jag1 C T 2: 137,086,032 probably null Het
Mmp1b T A 9: 7,387,946 Y16F probably benign Het
Muc4 G T 16: 32,754,090 R1322M probably benign Het
Myo9b T C 8: 71,348,735 I1179T probably benign Het
Nos1ap A G 1: 170,514,606 probably benign Het
Npc1l1 A T 11: 6,224,199 V702E probably damaging Het
Olfr1183 A T 2: 88,461,352 Y4F probably benign Het
Olfr1303 A C 2: 111,813,781 probably benign Het
Olfr1380 A C 11: 49,563,920 probably benign Het
Olfr270 G A 4: 52,971,058 V146M possibly damaging Het
Olfr50 A G 2: 36,794,000 I255V probably benign Het
Olfr699 T A 7: 106,790,589 R137S probably benign Het
Osmr A T 15: 6,844,445 L157* probably null Het
Pdzph1 T C 17: 58,974,796 T164A possibly damaging Het
Ptn T C 6: 36,743,489 K43E probably benign Het
Rbm45 T C 2: 76,378,707 V340A probably damaging Het
Rnf5 C T 17: 34,602,109 G83E probably damaging Het
Scin G T 12: 40,076,972 Q459K probably benign Het
Serpina5 C A 12: 104,105,220 A362D probably damaging Het
Tcrg-V3 G A 13: 19,243,211 S88N probably benign Het
Tex47 T A 5: 7,305,468 Y216* probably null Het
Tll1 A T 8: 64,016,136 H984Q probably benign Het
Tmem259 A G 10: 79,979,734 V81A probably benign Het
Tns3 A T 11: 8,451,066 S1077R probably benign Het
Ttc17 A G 2: 94,323,083 probably benign Het
Tubgcp2 T C 7: 140,031,022 T149A possibly damaging Het
Ulk1 G A 5: 110,787,872 A25V probably damaging Het
Vps13d T C 4: 145,168,540 E378G probably damaging Het
Vsig10 A G 5: 117,338,414 N311S probably benign Het
Zfp511 T C 7: 140,037,516 Y144H possibly damaging Het
Other mutations in Cdadc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01897:Cdadc1 APN 14 59592537 critical splice acceptor site probably null
IGL02648:Cdadc1 APN 14 59586363 missense probably damaging 1.00
IGL02720:Cdadc1 APN 14 59586047 missense probably damaging 1.00
R0254:Cdadc1 UTSW 14 59575907 splice site probably benign
R0470:Cdadc1 UTSW 14 59573841 splice site probably benign
R0554:Cdadc1 UTSW 14 59586452 missense probably damaging 1.00
R1462:Cdadc1 UTSW 14 59575858 missense probably damaging 1.00
R1462:Cdadc1 UTSW 14 59575858 missense probably damaging 1.00
R1540:Cdadc1 UTSW 14 59586083 missense probably damaging 1.00
R1540:Cdadc1 UTSW 14 59586092 missense probably damaging 1.00
R1649:Cdadc1 UTSW 14 59573793 missense probably damaging 1.00
R1900:Cdadc1 UTSW 14 59586532 missense probably damaging 1.00
R1934:Cdadc1 UTSW 14 59589860 missense possibly damaging 0.91
R1976:Cdadc1 UTSW 14 59573768 missense probably damaging 1.00
R2061:Cdadc1 UTSW 14 59581334 missense probably damaging 1.00
R2136:Cdadc1 UTSW 14 59568044 splice site probably null
R2147:Cdadc1 UTSW 14 59597753 critical splice donor site probably null
R2929:Cdadc1 UTSW 14 59597835 start codon destroyed probably null 0.70
R2991:Cdadc1 UTSW 14 59586072 missense possibly damaging 0.68
R4179:Cdadc1 UTSW 14 59592486 missense probably benign 0.12
R4621:Cdadc1 UTSW 14 59586555 missense probably benign 0.00
R4814:Cdadc1 UTSW 14 59568991 frame shift probably null
R4816:Cdadc1 UTSW 14 59568991 frame shift probably null
R4817:Cdadc1 UTSW 14 59568991 frame shift probably null
R4872:Cdadc1 UTSW 14 59564524 missense probably benign 0.04
R5448:Cdadc1 UTSW 14 59573826 missense possibly damaging 0.94
R5642:Cdadc1 UTSW 14 59589923 missense possibly damaging 0.95
R5732:Cdadc1 UTSW 14 59596911 missense probably damaging 0.99
R6472:Cdadc1 UTSW 14 59586042 missense probably damaging 0.99
R6501:Cdadc1 UTSW 14 59586449 missense probably benign 0.00
R7332:Cdadc1 UTSW 14 59575764 missense possibly damaging 0.63
X0064:Cdadc1 UTSW 14 59575854 missense probably damaging 1.00
Posted On2011-07-12