Incidental Mutation 'R5110:Aicda'
ID393797
Institutional Source Beutler Lab
Gene Symbol Aicda
Ensembl Gene ENSMUSG00000040627
Gene Nameactivation-induced cytidine deaminase
SynonymsAid
MMRRC Submission 042698-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5110 (G1)
Quality Score151
Status Validated
Chromosome6
Chromosomal Location122553801-122564180 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 122561185 bp
ZygosityHeterozygous
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]
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: 124,295,357 probably null Het
2310016G11Rik G A 7: 44,677,862 noncoding transcript Het
Abi2 G A 1: 60,450,121 V98I probably benign Het
Adam21 T C 12: 81,560,215 T258A probably benign Het
Adam33 A T 2: 131,053,770 C542S probably damaging Het
Adamts15 A G 9: 30,921,444 V265A probably benign Het
Ahnak A T 19: 9,014,759 D4469V probably damaging Het
Als2 A T 1: 59,185,441 D1040E probably damaging Het
Car15 T C 16: 17,835,347 R319G possibly damaging Het
Cdc23 C A 18: 34,651,689 V7L unknown Het
Col1a1 T C 11: 94,941,593 probably null Het
Col25a1 A G 3: 130,584,725 *594W probably null Het
Cwf19l2 A G 9: 3,450,012 probably null Het
Dctn4 C T 18: 60,546,315 P236S probably damaging Het
Ehmt1 C A 2: 24,852,790 C459F probably benign Het
Enox1 T C 14: 77,707,687 probably null Het
Fam136b-ps A G 15: 31,276,710 probably benign Het
Fzd1 T C 5: 4,756,448 D378G probably benign Het
Golga5 G A 12: 102,472,077 R17Q probably benign Het
Hk1 A T 10: 62,286,651 Y422N probably damaging Het
Hsf4 A G 8: 105,272,795 D255G probably benign Het
Ift81 A G 5: 122,551,058 V665A probably benign Het
Igkv13-84 T C 6: 68,939,608 F3L probably benign Het
Kcnh1 T A 1: 192,337,747 S433R possibly damaging Het
Ktn1 A G 14: 47,704,287 probably benign Het
Lrp4 A T 2: 91,497,072 D1471V possibly damaging Het
Macf1 A T 4: 123,368,008 D6990E probably damaging Het
Map3k6 G A 4: 133,247,548 probably benign Het
Miox T A 15: 89,335,556 D82E probably benign Het
Olfr722 T G 14: 49,895,575 I76L possibly damaging Het
Ovgp1 G C 3: 105,977,783 R133P probably damaging Het
Per2 G A 1: 91,429,515 T642I possibly damaging Het
Pparg T C 6: 115,473,003 V321A probably damaging Het
Pptc7 T A 5: 122,308,249 N17K probably benign Het
Prpf19 T C 19: 10,899,287 probably benign Het
Rai14 T C 15: 10,690,410 probably benign Het
Sardh T C 2: 27,189,547 D911G probably benign Het
Sbf2 T A 7: 110,364,657 T994S probably benign Het
Slc1a1 G A 19: 28,911,808 E494K probably benign Het
Smarcc1 A G 9: 110,197,784 K771E possibly damaging Het
St5 A G 7: 109,542,490 S556P probably benign Het
Stim1 T C 7: 102,268,422 V3A unknown Het
Syne3 G A 12: 104,943,370 R736C probably benign Het
Synj2 T C 17: 6,037,715 V986A probably benign Het
Tinag A G 9: 76,952,007 S440P probably damaging Het
Tshz2 A G 2: 169,884,197 T238A possibly damaging Het
Ttc8 T C 12: 98,942,303 M17T probably benign Het
Tubgcp5 G A 7: 55,808,637 R432Q probably damaging Het
Ugt1a10 T A 1: 88,056,252 probably null Het
Usp4 T A 9: 108,362,678 I202N probably damaging Het
Vmn1r194 T G 13: 22,245,000 S262R probably benign Het
Vmn2r101 T C 17: 19,611,635 F631S possibly damaging Het
Vps13b T A 15: 35,770,809 S2133T probably damaging Het
Zfp13 C A 17: 23,580,860 V77F probably benign Het
Zscan10 T A 17: 23,609,632 C306S probably damaging Het
Other mutations in Aicda
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Aicda APN 6 122561053 missense probably damaging 1.00
IGL03328:Aicda APN 6 122562437 missense probably benign 0.01
bellezza UTSW 6 122561185 missense probably benign 0.03
creeper UTSW 6 122561867 missense probably damaging 1.00
R1370:Aicda UTSW 6 122561185 missense probably benign
R2207:Aicda UTSW 6 122561285 missense possibly damaging 0.88
R4012:Aicda UTSW 6 122559490 missense probably benign 0.07
R4177:Aicda UTSW 6 122561084 missense probably benign 0.00
R4698:Aicda UTSW 6 122553888 start gained probably benign
R5000:Aicda UTSW 6 122561867 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCATCCCAAATGGCCTG -3'
(R):5'- GTCTTTAAGTAGCACCCCACCC -3'

Sequencing Primer
(F):5'- ATGCAGGTCACGTCACCAGTG -3'
(R):5'- AGTTTCCCCGCTGACACTCAC -3'
Posted On2016-06-15