Incidental Mutation 'IGL01775:Aicda'
ID154089
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aicda
Ensembl Gene ENSMUSG00000040627
Gene Nameactivation-induced cytidine deaminase
SynonymsAid
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01775
Quality Score
Status
Chromosome6
Chromosomal Location122553801-122564180 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 122561053 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 57 (V57M)
Ref Sequence ENSEMBL: ENSMUSP00000040524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043301] [ENSMUST00000160685]
Predicted Effect probably damaging
Transcript: ENSMUST00000043301
AA Change: V57M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040524
Gene: ENSMUSG00000040627
AA Change: V57M

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
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430F08Rik A T 10: 100,583,937 L94Q probably benign Het
Aatf A T 11: 84,471,137 L333Q probably damaging Het
Ablim3 A T 18: 61,816,918 probably benign Het
Acsl6 T C 11: 54,346,000 probably benign Het
Adra1b T A 11: 43,835,301 D263V probably damaging Het
C2cd3 T C 7: 100,443,431 W494R probably damaging Het
Ccnb1 T C 13: 100,783,509 S165G probably benign Het
Cnot4 A T 6: 35,069,476 probably benign Het
Dph6 A T 2: 114,518,295 probably benign Het
Emc3 A G 6: 113,531,335 S50P possibly damaging Het
Fbxo45 A C 16: 32,233,275 probably null Het
Gm14496 A T 2: 182,000,332 T599S probably benign Het
Gspt1 T C 16: 11,223,295 I535V possibly damaging Het
Hemk1 A G 9: 107,330,796 I215T possibly damaging Het
Ighm A T 12: 113,422,467 C88S unknown Het
Itih2 A C 2: 10,129,286 D38E probably benign Het
Lat C A 7: 126,368,089 V113L probably benign Het
Micalcl T A 7: 112,382,062 F480L possibly damaging Het
Mki67 A T 7: 135,698,276 S1676R possibly damaging Het
Msh2 A T 17: 87,682,646 N254I possibly damaging Het
Naglu T C 11: 101,074,095 M336T probably damaging Het
Nhsl1 C T 10: 18,524,474 R483C probably damaging Het
Nsmaf C T 4: 6,396,791 E899K possibly damaging Het
Nup85 T C 11: 115,580,767 Y181H probably damaging Het
Olfr1030 T C 2: 85,984,670 S277P probably damaging Het
Olfr666 A T 7: 104,893,292 M112K possibly damaging Het
Olfr855 A T 9: 19,584,705 Q56L probably benign Het
Olfr937 C A 9: 39,060,467 L66F probably damaging Het
P2rx3 C T 2: 85,024,157 R91H probably benign Het
Plag1 T C 4: 3,904,513 D226G probably damaging Het
Pofut1 T A 2: 153,248,473 F96I probably damaging Het
Prim1 A G 10: 128,029,243 N399S probably benign Het
Prkd3 G T 17: 79,012,760 T51K probably damaging Het
Ptprc T C 1: 138,064,759 Y1210C probably damaging Het
Rbm43 A T 2: 51,925,448 S254T probably damaging Het
Retsat G A 6: 72,607,317 R528Q probably damaging Het
Rps8 C A 4: 117,155,052 R56L probably benign Het
Samhd1 A T 2: 157,114,330 probably benign Het
Sfxn1 T C 13: 54,105,739 probably benign Het
Stk33 T A 7: 109,312,367 E396D possibly damaging Het
Tcaim T C 9: 122,818,825 V135A probably damaging Het
Thsd7b A G 1: 129,628,939 D421G probably damaging Het
Unc80 A G 1: 66,601,056 D1374G possibly damaging Het
Wnk2 C A 13: 49,071,110 D232Y probably damaging Het
Zfand1 T C 3: 10,344,866 T145A probably damaging Het
Other mutations in Aicda
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5110:Aicda UTSW 6 122561185 missense probably benign 0.03
R7874:Aicda UTSW 6 122561949 missense probably damaging 1.00
R7957:Aicda UTSW 6 122561949 missense probably damaging 1.00
Posted On2014-02-04