Incidental Mutation 'R4177:Aicda'
| ID |
319556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aicda
|
| Ensembl Gene |
ENSMUSG00000040627 |
| Gene Name |
activation-induced cytidine deaminase |
| Synonyms |
Aid |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4177 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
122530768-122541139 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122538043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 67
(D67V)
|
| 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: D67V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040524
Gene: ENSMUSG00000040627
AA Change: D67V
| 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
|
| SMART Domains |
Protein: ENSMUSP00000125093
Gene: ENSMUSG00000040627
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.1568 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (46/46) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap32 |
A |
G |
9: 32,158,510 (GRCm39) |
R182G |
probably null |
Het |
| Bbx |
T |
C |
16: 50,045,221 (GRCm39) |
K447E |
probably damaging |
Het |
| Bscl2 |
A |
G |
19: 8,817,120 (GRCm39) |
D16G |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,321,294 (GRCm39) |
V506A |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,400,816 (GRCm39) |
Q441L |
possibly damaging |
Het |
| Crebbp |
A |
T |
16: 3,937,663 (GRCm39) |
M700K |
possibly damaging |
Het |
| Dhcr7 |
A |
G |
7: 143,394,910 (GRCm39) |
Y142C |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,962,394 (GRCm39) |
M602T |
probably benign |
Het |
| Dysf |
C |
T |
6: 84,044,013 (GRCm39) |
R254* |
probably null |
Het |
| Ednra |
A |
C |
8: 78,401,677 (GRCm39) |
I204M |
possibly damaging |
Het |
| Fabp2 |
A |
G |
3: 122,690,547 (GRCm39) |
T77A |
possibly damaging |
Het |
| Gm10322 |
C |
A |
10: 59,452,052 (GRCm39) |
N56K |
probably benign |
Het |
| Gnb1 |
T |
C |
4: 155,625,113 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
T |
C |
5: 138,275,621 (GRCm39) |
|
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,732,280 (GRCm39) |
|
probably benign |
Het |
| Lypla2 |
T |
C |
4: 135,696,403 (GRCm39) |
|
probably benign |
Het |
| Maf |
A |
T |
8: 116,433,210 (GRCm39) |
Y131* |
probably null |
Het |
| Mfsd4a |
T |
A |
1: 131,968,295 (GRCm39) |
H335L |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,302 (GRCm39) |
Y122H |
probably damaging |
Het |
| Myo10 |
A |
T |
15: 25,734,137 (GRCm39) |
Q342L |
possibly damaging |
Het |
| N4bp2 |
A |
G |
5: 65,955,513 (GRCm39) |
|
probably null |
Het |
| Or5t15 |
A |
T |
2: 86,681,745 (GRCm39) |
M99K |
possibly damaging |
Het |
| Pomt1 |
A |
G |
2: 32,138,689 (GRCm39) |
N435S |
probably damaging |
Het |
| Pram1 |
A |
G |
17: 33,860,203 (GRCm39) |
I257V |
probably benign |
Het |
| Rab9 |
G |
T |
X: 165,241,296 (GRCm39) |
S5* |
probably null |
Het |
| Ralgapa2 |
A |
T |
2: 146,327,083 (GRCm39) |
Y59N |
probably damaging |
Het |
| Rasgrf2 |
C |
T |
13: 92,038,717 (GRCm39) |
G1043D |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,532,616 (GRCm39) |
T462M |
possibly damaging |
Het |
| Selenoo |
C |
T |
15: 88,983,662 (GRCm39) |
|
probably benign |
Het |
| Sptb |
G |
C |
12: 76,659,953 (GRCm39) |
D982E |
probably benign |
Het |
| Tab2 |
A |
G |
10: 7,795,123 (GRCm39) |
V453A |
probably damaging |
Het |
| Ubald1 |
A |
G |
16: 4,693,745 (GRCm39) |
|
probably benign |
Het |
| Ube2d1 |
T |
C |
10: 71,094,033 (GRCm39) |
K101R |
probably damaging |
Het |
| Unc5cl |
A |
G |
17: 48,769,298 (GRCm39) |
T261A |
probably benign |
Het |
| Zcwpw1 |
G |
T |
5: 137,798,395 (GRCm39) |
K197N |
probably damaging |
Het |
| Zfp268 |
T |
C |
4: 145,347,225 (GRCm39) |
L43S |
probably damaging |
Het |
| Zfyve19 |
A |
G |
2: 119,046,693 (GRCm39) |
T296A |
possibly damaging |
Het |
|
| Other mutations in Aicda |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- GCCATTTGACTCCAACAAGTG -3'
(R):5'- AGGTCATGATCCCGATCTGGAC -3'
Sequencing Primer
(F):5'- GCCATTTGACTCCAACAAGTGCTATC -3'
(R):5'- GTGCAGTCTCCGCAGCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation