Incidental Mutation 'R1462:Cdadc1'
ID 158982
Institutional Source Beutler Lab
Gene Symbol Cdadc1
Ensembl Gene ENSMUSG00000021982
Gene Name cytidine and dCMP deaminase domain containing 1
Synonyms 2310010M10Rik, NYD-SP15
MMRRC Submission 039516-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R1462 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 59796837-59835408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59813307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 367 (Y367H)
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: Y367H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022555
Gene: ENSMUSG00000021982
AA Change: Y367H

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: Y367H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052233
Gene: ENSMUSG00000021982
AA Change: Y367H

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: Y367H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128022
Gene: ENSMUSG00000021982
AA Change: Y367H

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: Y367H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128064
Gene: ENSMUSG00000021982
AA Change: Y367H

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 probably benign
Transcript: ENSMUST00000225595
Predicted Effect probably damaging
Transcript: ENSMUST00000225839
AA Change: Y367H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7401 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 92.6%
  • 20x: 79.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C A 7: 40,642,370 (GRCm39) S104* probably null Het
Abca9 T C 11: 110,051,342 (GRCm39) D118G probably benign Het
Adamts16 A G 13: 70,984,253 (GRCm39) F137L probably benign Het
Adamts3 T C 5: 90,009,208 (GRCm39) I152V probably benign Het
Adcy4 T A 14: 56,015,765 (GRCm39) E441D possibly damaging Het
Adgra1 T A 7: 139,455,745 (GRCm39) Y458N probably damaging Het
Bhlhe22 C G 3: 18,109,946 (GRCm39) S332C probably damaging Het
Card19 T A 13: 49,358,760 (GRCm39) Q71L probably benign Het
Ccdc12 T C 9: 110,485,662 (GRCm39) L11P probably damaging Het
Cdc5l G T 17: 45,719,288 (GRCm39) Q542K possibly damaging Het
Cep170 T C 1: 176,584,211 (GRCm39) K723E possibly damaging Het
Cep70 A G 9: 99,145,773 (GRCm39) I147V probably benign Het
Cfap58 A T 19: 47,950,869 (GRCm39) H410L probably damaging Het
Chat T C 14: 32,142,735 (GRCm39) K418R probably damaging Het
Cic T G 7: 24,971,032 (GRCm39) D254E probably damaging Het
Ckap4 T C 10: 84,363,431 (GRCm39) E544G probably damaging Het
Crnkl1 C T 2: 145,763,739 (GRCm39) A500T probably damaging Het
Cyp2c38 T C 19: 39,380,632 (GRCm39) N418D probably damaging Het
Daam1 A T 12: 71,990,916 (GRCm39) I177L unknown Het
Ercc5 A G 1: 44,219,784 (GRCm39) T1019A probably damaging Het
F13b T A 1: 139,435,374 (GRCm39) V173E probably damaging Het
Fam20a A C 11: 109,568,143 (GRCm39) F316V probably damaging Het
Flrt2 T C 12: 95,746,112 (GRCm39) V150A probably damaging Het
Fnta A C 8: 26,489,599 (GRCm39) probably null Het
Ghsr A G 3: 27,426,025 (GRCm39) D27G probably benign Het
Gtpbp1 A G 15: 79,592,086 (GRCm39) N96D probably damaging Het
H1f7 A T 15: 98,154,454 (GRCm39) W232R unknown Het
Ibtk A T 9: 85,606,198 (GRCm39) I443N probably damaging Het
Ifi207 T C 1: 173,552,513 (GRCm39) H968R probably damaging Het
Ifit2 A G 19: 34,550,586 (GRCm39) D42G probably null Het
Il17rc A T 6: 113,455,950 (GRCm39) D265V probably damaging Het
Itfg2 T C 6: 128,401,691 (GRCm39) D29G probably damaging Het
Itprid1 A G 6: 55,952,649 (GRCm39) H864R probably damaging Het
Lrrc1 A G 9: 77,349,547 (GRCm39) F295L probably benign Het
Mrps28 T A 3: 8,965,184 (GRCm39) H85L possibly damaging Het
Mtpn T A 6: 35,499,693 (GRCm39) K37M possibly damaging Het
Mug1 C T 6: 121,859,588 (GRCm39) H1196Y probably benign Het
Mup4 T C 4: 59,960,084 (GRCm39) H60R possibly damaging Het
Mybl2 T C 2: 162,914,628 (GRCm39) S249P probably benign Het
Naip6 A G 13: 100,436,748 (GRCm39) Y592H possibly damaging Het
Nrp1 A G 8: 129,229,279 (GRCm39) N919S probably benign Het
Nudt9 C T 5: 104,212,904 (GRCm39) Q326* probably null Het
Or5w13 A T 2: 87,523,720 (GRCm39) C169S probably damaging Het
Or6c76b A G 10: 129,693,100 (GRCm39) T238A probably damaging Het
Or7g17 T A 9: 18,768,407 (GRCm39) M162K probably benign Het
Or9k7 T A 10: 130,046,592 (GRCm39) I136F probably benign Het
Pcsk4 T C 10: 80,161,815 (GRCm39) E142G probably damaging Het
Pde3a C A 6: 141,405,560 (GRCm39) P471T probably benign Het
Pign A T 1: 105,512,727 (GRCm39) V652E possibly damaging Het
Prkcb T A 7: 122,181,672 (GRCm39) M420K probably damaging Het
Prr14 T A 7: 127,073,160 (GRCm39) probably null Het
Rchy1 T A 5: 92,105,741 (GRCm39) Q69L probably damaging Het
Sec23ip T G 7: 128,367,862 (GRCm39) S625A probably benign Het
Smpdl3b A G 4: 132,473,925 (GRCm39) S47P probably damaging Het
Speer4a3 T A 5: 26,156,623 (GRCm39) I119F possibly damaging Het
Stil G A 4: 114,881,161 (GRCm39) M568I probably benign Het
Syt3 T A 7: 44,045,434 (GRCm39) V558E probably damaging Het
Szt2 A G 4: 118,231,164 (GRCm39) V2533A unknown Het
Tenm4 A G 7: 96,353,360 (GRCm39) Y384C probably damaging Het
Tfam T C 10: 71,071,380 (GRCm39) E94G probably damaging Het
Tmbim7 A G 5: 3,714,304 (GRCm39) T14A probably damaging Het
Tmtc2 A T 10: 105,409,566 (GRCm39) Y15* probably null Het
Uhrf1 C T 17: 56,625,035 (GRCm39) A526V probably damaging Het
Vmn2r67 T C 7: 84,805,046 (GRCm39) D22G probably benign Het
Vmn2r96 A G 17: 18,817,660 (GRCm39) I412M possibly damaging Het
Wdr17 A T 8: 55,123,363 (GRCm39) I479K probably damaging Het
Wt1 T C 2: 104,997,176 (GRCm39) V371A probably damaging Het
Zfp536 G T 7: 37,178,735 (GRCm39) S226Y probably damaging Het
Zfp827 T C 8: 79,803,108 (GRCm39) V560A 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
IGL02648:Cdadc1 APN 14 59,823,812 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGAGAACTAGGCTCAACCATCCTCTG -3'
(R):5'- AGTAGCCGAGAAGCAGTTATTGATGTG -3'

Sequencing Primer
(F):5'- GCTCAACCATCCTCTGTTGTC -3'
(R):5'- aaaagcacagccatttctcc -3'
Posted On 2014-03-14