Incidental Mutation 'R5233:Aadat'
| ID |
398130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadat
|
| Ensembl Gene |
ENSMUSG00000057228 |
| Gene Name |
aminoadipate aminotransferase |
| Synonyms |
Kat2, Kyat2, KATII, mKat-2 |
| MMRRC Submission |
042805-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5233 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
60958966-60998711 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60979656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 173
(I173V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079472]
[ENSMUST00000209338]
|
| AlphaFold |
Q9WVM8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079472
AA Change: I166V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: I166V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
64 |
417 |
2.6e-22 |
PFAM |
|
Pfam:Aminotran_MocR
|
124 |
424 |
7.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209338
AA Change: I173V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Meta Mutation Damage Score |
0.0940 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous null mice are viable and display earlier eye opening and development of air righting and open field crossing responses, and transient hyperactivity and neuronal abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030619P08Rik |
T |
A |
15: 75,301,801 (GRCm39) |
|
noncoding transcript |
Het |
| Acsl6 |
G |
A |
11: 54,216,432 (GRCm39) |
V200I |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,633,353 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
A |
T |
7: 100,530,576 (GRCm39) |
D1403E |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,121,387 (GRCm39) |
T1017A |
probably benign |
Het |
| Capg |
C |
T |
6: 72,532,509 (GRCm39) |
R25C |
probably damaging |
Het |
| Cd22 |
A |
G |
7: 30,576,959 (GRCm39) |
I116T |
probably damaging |
Het |
| Cep135 |
AGTCTGCCTTTGG |
A |
5: 76,739,690 (GRCm39) |
|
probably benign |
Het |
| Ciita |
A |
T |
16: 10,327,265 (GRCm39) |
I277F |
possibly damaging |
Het |
| Col15a1 |
T |
C |
4: 47,296,112 (GRCm39) |
V943A |
possibly damaging |
Het |
| Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
| Csn3 |
C |
T |
5: 88,077,694 (GRCm39) |
P67S |
probably benign |
Het |
| Csrnp3 |
A |
G |
2: 65,852,684 (GRCm39) |
T359A |
possibly damaging |
Het |
| Cttnbp2nl |
A |
G |
3: 104,912,357 (GRCm39) |
L509P |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,297,749 (GRCm39) |
D431G |
probably benign |
Het |
| Dtx3l |
A |
T |
16: 35,753,608 (GRCm39) |
C333S |
possibly damaging |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Fam171a1 |
G |
C |
2: 3,179,390 (GRCm39) |
G72A |
probably damaging |
Het |
| Fbxw17 |
T |
C |
13: 50,586,390 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
G |
5: 150,393,185 (GRCm39) |
D605G |
possibly damaging |
Het |
| Fyn |
T |
C |
10: 39,405,936 (GRCm39) |
F240S |
probably benign |
Het |
| Gcfc2 |
T |
C |
6: 81,930,271 (GRCm39) |
L646P |
probably damaging |
Het |
| Gm5087 |
C |
T |
14: 13,158,788 (GRCm38) |
|
noncoding transcript |
Het |
| Got2 |
T |
A |
8: 96,602,477 (GRCm39) |
N91I |
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,177,802 (GRCm39) |
V103I |
possibly damaging |
Het |
| Itgad |
A |
G |
7: 127,792,600 (GRCm39) |
|
probably null |
Het |
| Krt33a |
A |
G |
11: 99,904,961 (GRCm39) |
S182P |
probably damaging |
Het |
| Mcph1 |
T |
C |
8: 18,721,254 (GRCm39) |
I694T |
probably damaging |
Het |
| Mmp15 |
T |
C |
8: 96,097,696 (GRCm39) |
V502A |
probably benign |
Het |
| Mov10l1 |
T |
C |
15: 88,867,235 (GRCm39) |
V23A |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,817,900 (GRCm39) |
N2322K |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,503,766 (GRCm39) |
Y11C |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 49,826,062 (GRCm39) |
F199S |
probably damaging |
Het |
| Nup210 |
C |
T |
6: 91,003,951 (GRCm39) |
V646M |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,845,029 (GRCm39) |
S13R |
unknown |
Het |
| Nxf1 |
T |
C |
19: 8,741,293 (GRCm39) |
I54T |
possibly damaging |
Het |
| Or8b38 |
A |
G |
9: 37,973,446 (GRCm39) |
T277A |
probably damaging |
Het |
| Pcdh10 |
C |
A |
3: 45,338,626 (GRCm39) |
R928S |
probably damaging |
Het |
| Pou3f3 |
A |
G |
1: 42,737,438 (GRCm39) |
N378S |
probably benign |
Het |
| Rfx6 |
T |
A |
10: 51,588,187 (GRCm39) |
Y109* |
probably null |
Het |
| Rorc |
T |
A |
3: 94,304,632 (GRCm39) |
V339D |
probably benign |
Het |
| Scin |
T |
A |
12: 40,127,558 (GRCm39) |
I411F |
probably benign |
Het |
| Serpind1 |
A |
G |
16: 17,154,758 (GRCm39) |
Y195C |
probably damaging |
Het |
| Tas2r117 |
T |
C |
6: 132,780,585 (GRCm39) |
V241A |
possibly damaging |
Het |
| Tet3 |
T |
A |
6: 83,363,045 (GRCm39) |
E709V |
probably damaging |
Het |
| Trbc1 |
T |
A |
6: 41,515,383 (GRCm39) |
|
probably benign |
Het |
| Vmn1r212 |
C |
A |
13: 23,067,304 (GRCm39) |
G343V |
unknown |
Het |
| Vmn2r42 |
T |
A |
7: 8,197,837 (GRCm39) |
K261* |
probably null |
Het |
| Xrcc5 |
T |
A |
1: 72,379,209 (GRCm39) |
L438Q |
probably damaging |
Het |
| Zfp142 |
T |
C |
1: 74,624,608 (GRCm39) |
N72S |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,809,755 (GRCm39) |
S1096R |
probably damaging |
Het |
|
| Other mutations in Aadat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00822:Aadat
|
APN |
8 |
60,988,792 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01123:Aadat
|
APN |
8 |
60,979,648 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01524:Aadat
|
APN |
8 |
60,969,106 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01767:Aadat
|
APN |
8 |
60,960,126 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02824:Aadat
|
APN |
8 |
60,969,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03150:Aadat
|
APN |
8 |
60,996,596 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03356:Aadat
|
APN |
8 |
60,984,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Aadat
|
UTSW |
8 |
60,987,605 (GRCm39) |
splice site |
probably benign |
|
|
R0294:Aadat
|
UTSW |
8 |
60,987,642 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0533:Aadat
|
UTSW |
8 |
60,984,797 (GRCm39) |
splice site |
probably benign |
|
|
R0631:Aadat
|
UTSW |
8 |
60,982,479 (GRCm39) |
splice site |
probably benign |
|
|
R1585:Aadat
|
UTSW |
8 |
60,979,714 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1728:Aadat
|
UTSW |
8 |
60,979,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Aadat
|
UTSW |
8 |
60,979,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Aadat
|
UTSW |
8 |
60,960,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2362:Aadat
|
UTSW |
8 |
60,985,332 (GRCm39) |
splice site |
probably benign |
|
|
R3971:Aadat
|
UTSW |
8 |
60,971,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4126:Aadat
|
UTSW |
8 |
60,984,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4736:Aadat
|
UTSW |
8 |
60,993,140 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4739:Aadat
|
UTSW |
8 |
60,993,140 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4750:Aadat
|
UTSW |
8 |
60,979,634 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4874:Aadat
|
UTSW |
8 |
60,969,147 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4884:Aadat
|
UTSW |
8 |
60,979,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5367:Aadat
|
UTSW |
8 |
60,979,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6920:Aadat
|
UTSW |
8 |
60,982,467 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7064:Aadat
|
UTSW |
8 |
60,984,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7194:Aadat
|
UTSW |
8 |
60,979,656 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7316:Aadat
|
UTSW |
8 |
60,979,668 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7634:Aadat
|
UTSW |
8 |
60,969,102 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8672:Aadat
|
UTSW |
8 |
60,959,179 (GRCm39) |
unclassified |
probably benign |
|
|
R8711:Aadat
|
UTSW |
8 |
60,969,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8803:Aadat
|
UTSW |
8 |
60,998,290 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8919:Aadat
|
UTSW |
8 |
60,993,158 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9204:Aadat
|
UTSW |
8 |
60,996,566 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9207:Aadat
|
UTSW |
8 |
60,979,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9313:Aadat
|
UTSW |
8 |
60,979,635 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATACAGCTCACTCTTCCAAAGTAC -3'
(R):5'- AGAACACATTCTGGTCACCC -3'
Sequencing Primer
(F):5'- TTACATGTTTAAGGGCATGAGCAG -3'
(R):5'- AGAACACATTCTGGTCACCCTCTTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation