Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03328:Aicda'

416714

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aicda

Ensembl Gene

ENSMUSG00000040627

Gene Name

activation-induced cytidine deaminase

Synonyms

Aid

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03328

Quality Score

Status

Chromosome

Chromosomal Location

122553801-122564180 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 122562437 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 187 (D187E)

Ref Sequence

ENSEMBL: ENSMUSP00000040524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043301] [ENSMUST00000160685]

Predicted Effect

probably benign
Transcript: ENSMUST00000043301
AA Change: D187E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000040524
Gene: ENSMUSG00000040627
AA Change: D187E

Domain	Start	End	E-Value	Type
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
AA Change: D49E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125093
Gene: ENSMUSG00000040627
AA Change: D49E

Domain	Start	End	E-Value	Type
Pfam:APOBEC_C	1	35	6.3e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162504

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	A	T	2: 23,212,805	Y185F	possibly damaging	Het
Acaca	A	T	11: 84,320,529	M1556L	probably benign	Het
Arfgap3	A	C	15: 83,343,081	F43L	probably damaging	Het
AW551984	T	C	9: 39,597,116	E368G	probably damaging	Het
Bbs4	T	C	9: 59,344,118	E33G	probably damaging	Het
Bcas1	T	A	2: 170,366,396	K437*	probably null	Het
Brwd1	A	T	16: 96,002,725	W2082R	probably damaging	Het
Card6	A	T	15: 5,105,445		probably benign	Het
Cd200r4	A	G	16: 44,833,519	I226M	possibly damaging	Het
Cep57l1	T	C	10: 41,743,152	E73G	probably damaging	Het
Chaf1a	T	G	17: 56,063,374	F613C	probably damaging	Het
Clybl	G	T	14: 122,401,994	K323N	probably damaging	Het
Coa7	A	G	4: 108,338,282	D136G	probably damaging	Het
Col5a2	C	A	1: 45,376,146	V1478L	possibly damaging	Het
Ctnnd2	T	C	15: 30,921,847		probably benign	Het
Cyp4f17	T	G	17: 32,520,626	M174R	probably damaging	Het
Dnah10	A	T	5: 124,754,290	D794V	probably benign	Het
Eapp	A	G	12: 54,692,093	S87P	probably benign	Het
Efnb3	A	G	11: 69,557,205	I137T	probably damaging	Het
Eif4e	T	A	3: 138,553,727		probably benign	Het
Fam83b	T	A	9: 76,493,042	I260L	probably benign	Het
Fras1	A	G	5: 96,781,760	T4008A	probably damaging	Het
Fut8	A	T	12: 77,365,229	R118W	probably damaging	Het
Glt1d1	A	C	5: 127,657,119	D119A	probably benign	Het
Gm3727	T	A	14: 7,261,685	*206C	probably null	Het
Gmip	G	A	8: 69,811,611	V174M	possibly damaging	Het
Gtf2ird1	A	G	5: 134,389,129		probably null	Het
Haao	C	T	17: 83,846,649	C23Y	probably damaging	Het
Hip1	A	T	5: 135,424,874	V400E	probably damaging	Het
Keg1	A	G	19: 12,719,097	N215S	probably damaging	Het
Lss	T	G	10: 76,540,951	I334S	probably damaging	Het
Lyn	A	C	4: 3,745,327	E77D	probably benign	Het
Myo3a	A	G	2: 22,578,198	E1426G	probably benign	Het
Ncapg2	A	G	12: 116,440,057	E863G	possibly damaging	Het
Ncl	T	C	1: 86,352,597	Y496C	probably damaging	Het
Nefm	A	T	14: 68,121,290	S432T	probably benign	Het
Nipsnap1	A	G	11: 4,884,096	Y95C	possibly damaging	Het
Npc1l1	C	A	11: 6,218,643	E913*	probably null	Het
Nup205	T	C	6: 35,232,414	L1552P	probably damaging	Het
Olfr1217	G	T	2: 89,023,855	Y49*	probably null	Het
Olfr1356	C	T	10: 78,847,367	E183K	probably benign	Het
Olfr325	A	G	11: 58,581,713	N290D	probably damaging	Het
Olfr652	T	A	7: 104,564,470	V83D	probably damaging	Het
Osm	A	C	11: 4,238,426	I18L	unknown	Het
Otoa	T	A	7: 121,110,994	S254R	probably damaging	Het
Parp1	T	C	1: 180,599,590		probably benign	Het
Pcdh17	A	G	14: 84,533,111	I1010V	probably benign	Het
Peli2	A	T	14: 48,252,575		probably null	Het
Pkd1l3	T	G	8: 109,662,106		probably benign	Het
Pkhd1	A	G	1: 20,081,300		probably benign	Het
Polg2	A	C	11: 106,768,337	V450G	probably benign	Het
Ptpn13	A	T	5: 103,516,348	T401S	probably benign	Het
Rgs22	C	T	15: 36,043,204		probably null	Het
Rttn	T	G	18: 89,043,028	S1107A	probably benign	Het
Scn5a	G	T	9: 119,537,636	N328K	probably benign	Het
Sned1	G	A	1: 93,289,367	A1325T	probably benign	Het
St8sia4	T	A	1: 95,660,870	E80V	probably benign	Het
Stard7	T	C	2: 127,292,256		probably benign	Het
Suco	G	T	1: 161,820,421	P1099T	probably damaging	Het
Syn2	G	T	6: 115,274,260	C459F	probably damaging	Het
Tas2r117	A	C	6: 132,803,078	I60L	probably benign	Het
Tcrg-C4	A	G	13: 19,352,246	Y158C	unknown	Het
Tomm70a	T	C	16: 57,144,787	C445R	probably damaging	Het
Tpsab1	T	A	17: 25,345,128	D87V	probably benign	Het
Trpm6	A	T	19: 18,838,082	E1177D	possibly damaging	Het
Vmn2r71	A	T	7: 85,624,291	D771V	probably damaging	Het
Vmn2r93	A	T	17: 18,304,958	T293S	probably damaging	Het

Other mutations in Aicda

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01775:Aicda	APN	6	122561053	missense	probably damaging	1.00
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 On

2016-08-02