Incidental Mutation 'IGL02648:Cdadc1'
ID 302022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdadc1
Ensembl Gene ENSMUSG00000021982
Gene Name cytidine and dCMP deaminase domain containing 1
Synonyms 2310010M10Rik, NYD-SP15
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # IGL02648
Quality Score
Status
Chromosome 14
Chromosomal Location 59796837-59835408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 59823812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 227 (D227Y)
Ref Sequence ENSEMBL: ENSMUSP00000153357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022555] [ENSMUST00000056997] [ENSMUST00000167100] [ENSMUST00000171683] [ENSMUST00000225595] [ENSMUST00000225839]
AlphaFold Q8BMD5
Predicted Effect probably damaging
Transcript: ENSMUST00000022555
AA Change: D227Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022555
Gene: ENSMUSG00000021982
AA Change: D227Y

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: D227Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052233
Gene: ENSMUSG00000021982
AA Change: D227Y

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: D227Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128022
Gene: ENSMUSG00000021982
AA Change: D227Y

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: D227Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128064
Gene: ENSMUSG00000021982
AA Change: D227Y

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: D227Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,344,392 (GRCm39) probably null Het
Acp4 A G 7: 43,904,414 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,659,738 (GRCm39) M1997K probably benign Het
Arhgdib T C 6: 136,910,647 (GRCm39) D38G probably damaging Het
Bbox1 T G 2: 110,135,871 (GRCm39) D36A probably damaging Het
Cacna1c T C 6: 118,734,457 (GRCm39) K104R probably damaging Het
Cacna1i G A 15: 80,182,839 (GRCm39) C75Y probably damaging Het
Ccdc14 T C 16: 34,517,528 (GRCm39) L70S probably damaging Het
Ccdc88a T G 11: 29,451,051 (GRCm39) V1580G probably benign Het
Chd3 T C 11: 69,242,976 (GRCm39) Y1415C probably damaging Het
Cngb3 A G 4: 19,428,489 (GRCm39) N493S probably benign Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Gm10549 C A 18: 33,597,303 (GRCm39) probably benign Het
Greb1 C T 12: 16,758,683 (GRCm39) V678M probably damaging Het
Gucy2c G A 6: 136,706,211 (GRCm39) R497* probably null Het
Itgad T C 7: 127,782,546 (GRCm39) probably benign Het
Lgr4 C A 2: 109,842,718 (GRCm39) T877K probably damaging Het
Lrig3 A G 10: 125,802,463 (GRCm39) D40G probably benign Het
Myo3b T C 2: 69,935,716 (GRCm39) probably benign Het
Neb A G 2: 52,161,093 (GRCm39) Y2193H possibly damaging Het
Or4b1 T A 2: 89,979,697 (GRCm39) I218F possibly damaging Het
Or8b3b T C 9: 38,584,312 (GRCm39) M143V probably benign Het
Pard6b A G 2: 167,940,847 (GRCm39) Q278R probably benign Het
Pate10 A T 9: 35,652,405 (GRCm39) M21L probably benign Het
Pkd2l1 T C 19: 44,143,975 (GRCm39) Y366C possibly damaging Het
Prl2c1 A G 13: 28,041,542 (GRCm39) D188G probably benign Het
Prl3a1 G T 13: 27,454,218 (GRCm39) M65I probably benign Het
Psg26 T A 7: 18,216,691 (GRCm39) E49D probably benign Het
Rapgef3 G A 15: 97,656,273 (GRCm39) R38W probably damaging Het
Rrn3 T C 16: 13,629,453 (GRCm39) F590L probably benign Het
Serpina12 T C 12: 104,004,267 (GRCm39) K122E probably benign Het
Slc39a6 T C 18: 24,715,424 (GRCm39) I699V probably damaging Het
Tmem259 G A 10: 79,813,651 (GRCm39) P443S probably damaging Het
Vmn1r75 T A 7: 11,615,091 (GRCm39) F274L probably benign Het
Other mutations in Cdadc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Cdadc1 APN 14 59,818,818 (GRCm39) missense probably damaging 1.00
IGL01897:Cdadc1 APN 14 59,829,986 (GRCm39) critical splice acceptor site probably null
IGL02720:Cdadc1 APN 14 59,823,496 (GRCm39) missense probably damaging 1.00
R0254:Cdadc1 UTSW 14 59,813,356 (GRCm39) splice site probably benign
R0470:Cdadc1 UTSW 14 59,811,290 (GRCm39) splice site probably benign
R0554:Cdadc1 UTSW 14 59,823,901 (GRCm39) missense probably damaging 1.00
R1462:Cdadc1 UTSW 14 59,813,307 (GRCm39) missense probably damaging 1.00
R1462:Cdadc1 UTSW 14 59,813,307 (GRCm39) missense probably damaging 1.00
R1540:Cdadc1 UTSW 14 59,823,541 (GRCm39) missense probably damaging 1.00
R1540:Cdadc1 UTSW 14 59,823,532 (GRCm39) missense probably damaging 1.00
R1649:Cdadc1 UTSW 14 59,811,242 (GRCm39) missense probably damaging 1.00
R1900:Cdadc1 UTSW 14 59,823,981 (GRCm39) missense probably damaging 1.00
R1934:Cdadc1 UTSW 14 59,827,309 (GRCm39) missense possibly damaging 0.91
R1976:Cdadc1 UTSW 14 59,811,217 (GRCm39) missense probably damaging 1.00
R2061:Cdadc1 UTSW 14 59,818,783 (GRCm39) missense probably damaging 1.00
R2136:Cdadc1 UTSW 14 59,805,493 (GRCm39) splice site probably null
R2147:Cdadc1 UTSW 14 59,835,202 (GRCm39) critical splice donor site probably null
R2929:Cdadc1 UTSW 14 59,835,284 (GRCm39) start codon destroyed probably null 0.70
R2991:Cdadc1 UTSW 14 59,823,521 (GRCm39) missense possibly damaging 0.68
R4179:Cdadc1 UTSW 14 59,829,935 (GRCm39) missense probably benign 0.12
R4621:Cdadc1 UTSW 14 59,824,004 (GRCm39) missense probably benign 0.00
R4814:Cdadc1 UTSW 14 59,806,440 (GRCm39) frame shift probably null
R4816:Cdadc1 UTSW 14 59,806,440 (GRCm39) frame shift probably null
R4817:Cdadc1 UTSW 14 59,806,440 (GRCm39) frame shift probably null
R4872:Cdadc1 UTSW 14 59,801,973 (GRCm39) missense probably benign 0.04
R5448:Cdadc1 UTSW 14 59,811,275 (GRCm39) missense possibly damaging 0.94
R5642:Cdadc1 UTSW 14 59,827,372 (GRCm39) missense possibly damaging 0.95
R5732:Cdadc1 UTSW 14 59,834,360 (GRCm39) missense probably damaging 0.99
R6472:Cdadc1 UTSW 14 59,823,491 (GRCm39) missense probably damaging 0.99
R6501:Cdadc1 UTSW 14 59,823,898 (GRCm39) missense probably benign 0.00
R7332:Cdadc1 UTSW 14 59,813,213 (GRCm39) missense possibly damaging 0.63
R7763:Cdadc1 UTSW 14 59,811,283 (GRCm39) missense probably damaging 1.00
R8978:Cdadc1 UTSW 14 59,813,197 (GRCm39) missense probably damaging 1.00
X0064:Cdadc1 UTSW 14 59,813,303 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16