Incidental Mutation 'R5110:Aicda'
ID 393797
Institutional Source Beutler Lab
Gene Symbol Aicda
Ensembl Gene ENSMUSG00000040627
Gene Name activation-induced cytidine deaminase
Synonyms Aid
MMRRC Submission 042698-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5110 (G1)
Quality Score 151
Status Validated
Chromosome 6
Chromosomal Location 122530768-122541139 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122538144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 101 (N101D)
Ref Sequence ENSEMBL: ENSMUSP00000040524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043301] [ENSMUST00000160685]
AlphaFold Q9WVE0
Predicted Effect probably benign
Transcript: ENSMUST00000043301
AA Change: N101D

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000040524
Gene: ENSMUSG00000040627
AA Change: N101D

DomainStartEndE-ValueType
Pfam:APOBEC_N 11 178 4.6e-66 PFAM
Pfam:APOBEC_C 120 171 1.8e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159182
Predicted Effect probably benign
Transcript: ENSMUST00000160685
SMART Domains Protein: ENSMUSP00000125093
Gene: ENSMUSG00000040627

DomainStartEndE-ValueType
Pfam:APOBEC_C 1 35 6.3e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162980
Meta Mutation Damage Score 0.7141 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. The protein is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous mutation of this gene results in elevated IgM levels and impairment of B cell class switching. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik C A 9: 124,057,987 (GRCm39) probably null Het
2310016G11Rik G A 7: 44,327,286 (GRCm39) noncoding transcript Het
Abi2 G A 1: 60,489,280 (GRCm39) V98I probably benign Het
Adam21 T C 12: 81,606,989 (GRCm39) T258A probably benign Het
Adam33 A T 2: 130,895,690 (GRCm39) C542S probably damaging Het
Adamts15 A G 9: 30,832,740 (GRCm39) V265A probably benign Het
Ahnak A T 19: 8,992,123 (GRCm39) D4469V probably damaging Het
Als2 A T 1: 59,224,600 (GRCm39) D1040E probably damaging Het
Car15 T C 16: 17,653,211 (GRCm39) R319G possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Col1a1 T C 11: 94,832,419 (GRCm39) probably null Het
Col25a1 A G 3: 130,378,374 (GRCm39) *594W probably null Het
Cwf19l2 A G 9: 3,450,012 (GRCm39) probably null Het
Dctn4 C T 18: 60,679,387 (GRCm39) P236S probably damaging Het
Dennd2b A G 7: 109,141,697 (GRCm39) S556P probably benign Het
Ehmt1 C A 2: 24,742,802 (GRCm39) C459F probably benign Het
Enox1 T C 14: 77,945,127 (GRCm39) probably null Het
Fam136b-ps A G 15: 31,276,856 (GRCm39) probably benign Het
Fzd1 T C 5: 4,806,448 (GRCm39) D378G probably benign Het
Golga5 G A 12: 102,438,336 (GRCm39) R17Q probably benign Het
Hk1 A T 10: 62,122,430 (GRCm39) Y422N probably damaging Het
Hsf4 A G 8: 105,999,427 (GRCm39) D255G probably benign Het
Ift81 A G 5: 122,689,121 (GRCm39) V665A probably benign Het
Igkv13-84 T C 6: 68,916,592 (GRCm39) F3L probably benign Het
Kcnh1 T A 1: 192,020,055 (GRCm39) S433R possibly damaging Het
Ktn1 A G 14: 47,941,744 (GRCm39) probably benign Het
Lrp4 A T 2: 91,327,417 (GRCm39) D1471V possibly damaging Het
Macf1 A T 4: 123,261,801 (GRCm39) D6990E probably damaging Het
Map3k6 G A 4: 132,974,859 (GRCm39) probably benign Het
Miox T A 15: 89,219,759 (GRCm39) D82E probably benign Het
Or4n5 T G 14: 50,133,032 (GRCm39) I76L possibly damaging Het
Ovgp1 G C 3: 105,885,099 (GRCm39) R133P probably damaging Het
Per2 G A 1: 91,357,237 (GRCm39) T642I possibly damaging Het
Pparg T C 6: 115,449,964 (GRCm39) V321A probably damaging Het
Pptc7 T A 5: 122,446,312 (GRCm39) N17K probably benign Het
Prpf19 T C 19: 10,876,651 (GRCm39) probably benign Het
Rai14 T C 15: 10,690,496 (GRCm39) probably benign Het
Sardh T C 2: 27,079,559 (GRCm39) D911G probably benign Het
Sbf2 T A 7: 109,963,864 (GRCm39) T994S probably benign Het
Slc1a1 G A 19: 28,889,208 (GRCm39) E494K probably benign Het
Smarcc1 A G 9: 110,026,852 (GRCm39) K771E possibly damaging Het
Stim1 T C 7: 101,917,629 (GRCm39) V3A unknown Het
Syne3 G A 12: 104,909,629 (GRCm39) R736C probably benign Het
Synj2 T C 17: 6,087,990 (GRCm39) V986A probably benign Het
Tinag A G 9: 76,859,289 (GRCm39) S440P probably damaging Het
Tshz2 A G 2: 169,726,117 (GRCm39) T238A possibly damaging Het
Ttc8 T C 12: 98,908,562 (GRCm39) M17T probably benign Het
Tubgcp5 G A 7: 55,458,385 (GRCm39) R432Q probably damaging Het
Ugt1a10 T A 1: 87,983,974 (GRCm39) probably null Het
Usp4 T A 9: 108,239,877 (GRCm39) I202N probably damaging Het
Vmn1r194 T G 13: 22,429,170 (GRCm39) S262R probably benign Het
Vmn2r101 T C 17: 19,831,897 (GRCm39) F631S possibly damaging Het
Vps13b T A 15: 35,770,955 (GRCm39) S2133T probably damaging Het
Zfp13 C A 17: 23,799,834 (GRCm39) V77F probably benign Het
Zscan10 T A 17: 23,828,606 (GRCm39) C306S probably damaging Het
Other mutations in Aicda
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Aicda APN 6 122,538,012 (GRCm39) missense probably damaging 1.00
IGL03328:Aicda APN 6 122,539,396 (GRCm39) missense probably benign 0.01
bellezza UTSW 6 122,538,144 (GRCm39) missense probably benign 0.03
creeper UTSW 6 122,538,826 (GRCm39) missense probably damaging 1.00
R1370:Aicda UTSW 6 122,538,144 (GRCm39) missense probably benign
R2207:Aicda UTSW 6 122,538,244 (GRCm39) missense possibly damaging 0.88
R4012:Aicda UTSW 6 122,536,449 (GRCm39) missense probably benign 0.07
R4177:Aicda UTSW 6 122,538,043 (GRCm39) missense probably benign 0.00
R4698:Aicda UTSW 6 122,530,847 (GRCm39) start gained probably benign
R5000:Aicda UTSW 6 122,538,826 (GRCm39) missense probably damaging 1.00
R7874:Aicda UTSW 6 122,538,908 (GRCm39) missense probably damaging 1.00
R8203:Aicda UTSW 6 122,538,076 (GRCm39) missense possibly damaging 0.79
R8426:Aicda UTSW 6 122,538,150 (GRCm39) missense probably damaging 1.00
R9278:Aicda UTSW 6 122,538,854 (GRCm39) missense possibly damaging 0.91
R9615:Aicda UTSW 6 122,538,113 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAGCATCCCAAATGGCCTG -3'
(R):5'- GTCTTTAAGTAGCACCCCACCC -3'

Sequencing Primer
(F):5'- ATGCAGGTCACGTCACCAGTG -3'
(R):5'- AGTTTCCCCGCTGACACTCAC -3'
Posted On 2016-06-15