Incidental Mutation 'R8203:Aicda'
ID 635764
Institutional Source Beutler Lab
Gene Symbol Aicda
Ensembl Gene ENSMUSG00000040627
Gene Name activation-induced cytidine deaminase
Synonyms Aid
MMRRC Submission 067626-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8203 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 122530768-122541139 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122538076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 78 (V78A)
Ref Sequence ENSEMBL: ENSMUSP00000040524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043301] [ENSMUST00000160685]
AlphaFold Q9WVE0
Predicted Effect possibly damaging
Transcript: ENSMUST00000043301
AA Change: V78A

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040524
Gene: ENSMUSG00000040627
AA Change: V78A

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

DomainStartEndE-ValueType
Pfam:APOBEC_C 1 35 6.3e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (53/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,075,369 (GRCm39) I148T probably benign Het
Agbl3 A G 6: 34,776,414 (GRCm39) T307A probably damaging Het
Ahsa1 A G 12: 87,315,042 (GRCm39) D65G probably damaging Het
Arhgef5 A G 6: 43,257,579 (GRCm39) D1282G probably damaging Het
Atf7ip T C 6: 136,583,781 (GRCm39) S1271P probably damaging Het
Atrn G A 2: 130,802,469 (GRCm39) D537N probably benign Het
Brd10 A T 19: 29,693,443 (GRCm39) S2017T probably benign Het
Cep170 T A 1: 176,596,877 (GRCm39) Q493H probably benign Het
Cltc A T 11: 86,594,986 (GRCm39) Y1371N possibly damaging Het
Col12a1 T C 9: 79,588,831 (GRCm39) T1095A possibly damaging Het
Cxcr5 T C 9: 44,425,451 (GRCm39) M69V probably benign Het
Cyp2c69 A T 19: 39,869,584 (GRCm39) V145E probably damaging Het
Ddx3y T C Y: 1,269,827 (GRCm39) E185G probably benign Het
Dgke G A 11: 88,941,193 (GRCm39) A330V probably benign Het
Dyrk4 A G 6: 126,871,797 (GRCm39) L157P probably damaging Het
Ermard T A 17: 15,240,548 (GRCm39) S337R possibly damaging Het
Etl4 A T 2: 20,789,916 (GRCm39) M805L possibly damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Fmn1 T A 2: 113,355,620 (GRCm39) M785K unknown Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Gabrg3 G A 7: 56,423,008 (GRCm39) T230I possibly damaging Het
Gle1 A G 2: 29,825,522 (GRCm39) D4G probably benign Het
Gm5468 T C 15: 25,414,527 (GRCm39) S26P noncoding transcript Het
Igsf10 A T 3: 59,236,254 (GRCm39) L1309Q probably benign Het
Lipf A G 19: 33,944,283 (GRCm39) K164R probably benign Het
Luc7l C A 17: 26,485,333 (GRCm39) T111K possibly damaging Het
Masp2 A G 4: 148,696,599 (GRCm39) T399A probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip1 T C 13: 100,562,328 (GRCm39) I946V probably benign Het
Neb T A 2: 52,039,259 (GRCm39) K6927* probably null Het
Nipal4 A T 11: 46,041,147 (GRCm39) D349E probably damaging Het
Or12j2 A T 7: 139,915,939 (GRCm39) T55S probably benign Het
Or5al7 T A 2: 85,992,844 (GRCm39) I150F probably benign Het
Or7g22 A G 9: 19,049,170 (GRCm39) N294D probably damaging Het
Pdik1l A T 4: 134,006,676 (GRCm39) H154Q unknown Het
Polr2m T G 9: 71,386,768 (GRCm39) M338L probably benign Het
Rab3gap2 T C 1: 184,999,376 (GRCm39) L995P probably damaging Het
Rnf17 T A 14: 56,705,179 (GRCm39) H694Q probably benign Het
Sar1b A G 11: 51,670,524 (GRCm39) K23E probably benign Het
Setd7 A T 3: 51,437,519 (GRCm39) Y245* probably null Het
Shpk A C 11: 73,104,904 (GRCm39) D171A probably benign Het
Slc2a7 G T 4: 150,243,015 (GRCm39) E279* probably null Het
Slco4a1 T C 2: 180,106,592 (GRCm39) V258A probably damaging Het
Srcin1 G T 11: 97,457,539 (GRCm39) P62Q probably damaging Het
Tbc1d2 A G 4: 46,606,476 (GRCm39) F823S probably damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tdrd9 T A 12: 111,992,064 (GRCm39) V613E probably damaging Het
Tsc1 A G 2: 28,563,007 (GRCm39) probably null Het
Ulk4 A T 9: 120,997,274 (GRCm39) M766K probably damaging Het
Wdr36 G T 18: 32,985,136 (GRCm39) G481* probably null Het
Yme1l1 G A 2: 23,054,538 (GRCm39) R119H probably benign Het
Zfp106 G A 2: 120,349,559 (GRCm39) T1644I 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
R5110:Aicda UTSW 6 122,538,144 (GRCm39) missense probably benign 0.03
R7874:Aicda UTSW 6 122,538,908 (GRCm39) missense probably damaging 1.00
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'- CATTTGACTCCAACAAGTGCTATC -3'
(R):5'- AGGTCATGATCCCGATCTGG -3'

Sequencing Primer
(F):5'- CCTGGTCTACATAATGAGTTCCAGG -3'
(R):5'- ATGATCCCGATCTGGACCCC -3'
Posted On 2020-07-13