Incidental Mutation 'IGL03116:Aasdh'
| ID |
419432 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
IGL03116
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
77021506-77053361 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 77049936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120963]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000135954]
[ENSMUST00000146570]
[ENSMUST00000142450]
|
| AlphaFold |
Q80WC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069709
AA Change: V20E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: V20E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
449 |
1.3e-50 |
PFAM |
|
Pfam:AMP-binding_C
|
458 |
526 |
7.4e-6 |
PFAM |
|
Pfam:PP-binding
|
556 |
628 |
1.2e-6 |
PFAM |
|
PQQ
|
775 |
808 |
5.29e-1 |
SMART |
|
PQQ
|
818 |
850 |
4.37e-2 |
SMART |
|
PQQ
|
860 |
892 |
2.3e1 |
SMART |
|
PQQ
|
901 |
934 |
2.83e1 |
SMART |
|
Blast:PQQ
|
943 |
973 |
2e-9 |
BLAST |
|
PQQ
|
982 |
1014 |
2.61e2 |
SMART |
|
PQQ
|
1029 |
1061 |
8.53e0 |
SMART |
|
Blast:PQQ
|
1070 |
1100 |
2e-12 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120963
AA Change: V20E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: V20E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
449 |
1.3e-50 |
PFAM |
|
Pfam:AMP-binding_C
|
458 |
526 |
7.4e-6 |
PFAM |
|
Pfam:PP-binding
|
556 |
628 |
1.2e-6 |
PFAM |
|
PQQ
|
775 |
808 |
5.29e-1 |
SMART |
|
PQQ
|
818 |
850 |
4.37e-2 |
SMART |
|
PQQ
|
860 |
892 |
2.3e1 |
SMART |
|
PQQ
|
901 |
934 |
2.83e1 |
SMART |
|
Blast:PQQ
|
943 |
973 |
2e-9 |
BLAST |
|
PQQ
|
982 |
1014 |
2.61e2 |
SMART |
|
PQQ
|
1029 |
1061 |
8.53e0 |
SMART |
|
Blast:PQQ
|
1070 |
1100 |
2e-12 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123682
AA Change: V20E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923
AA Change: V20E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
231 |
1.7e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126741
AA Change: V20E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: V20E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
403 |
7.5e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135697
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135954
AA Change: V20E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146570
AA Change: V20E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: V20E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
449 |
2.1e-58 |
PFAM |
|
Pfam:PP-binding
|
556 |
628 |
1e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136080
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142450
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The gene product is a cytosolic enzyme involved in the production of alpha-aminoadipic acid from alpha-aminoadipic semialdehyde. It is postulated that this enzyme plays a role in lysine metabolism. There is currently debate regarding this enzyme's putative requirement of pyrroloquinoline quinine as an essential cofactor. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Jan 2010]
|
| Allele List at MGI |
All alleles(14) : Gene trapped(14)
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810030O07Rik |
T |
C |
X: 12,535,892 (GRCm39) |
|
probably benign |
Het |
| 9530068E07Rik |
A |
G |
11: 52,294,331 (GRCm39) |
I199V |
probably benign |
Het |
| Aatk |
T |
C |
11: 119,907,577 (GRCm39) |
I84V |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,100,071 (GRCm39) |
H727R |
probably benign |
Het |
| Aff2 |
T |
C |
X: 68,878,092 (GRCm39) |
V626A |
probably benign |
Het |
| Ano2 |
C |
A |
6: 125,957,134 (GRCm39) |
Y634* |
probably null |
Het |
| Apob |
C |
A |
12: 8,066,350 (GRCm39) |
Q4407K |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,076,642 (GRCm39) |
|
probably benign |
Het |
| Atp2b4 |
T |
G |
1: 133,656,506 (GRCm39) |
T715P |
possibly damaging |
Het |
| Brip1 |
G |
T |
11: 85,955,735 (GRCm39) |
S926* |
probably null |
Het |
| Cpd |
A |
T |
11: 76,702,539 (GRCm39) |
Y610N |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,707,057 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
G |
A |
2: 180,312,772 (GRCm39) |
T1041I |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,973,749 (GRCm39) |
T658S |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,612,359 (GRCm39) |
S661T |
probably benign |
Het |
| Fcer1a |
G |
A |
1: 173,049,128 (GRCm39) |
Q172* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,339,435 (GRCm39) |
E576G |
possibly damaging |
Het |
| Gcsam |
T |
C |
16: 45,440,431 (GRCm39) |
F136S |
possibly damaging |
Het |
| Glmn |
T |
G |
5: 107,698,949 (GRCm39) |
T430P |
probably damaging |
Het |
| Gm5934 |
T |
C |
X: 24,340,931 (GRCm39) |
N194S |
probably benign |
Het |
| Gpatch11 |
T |
A |
17: 79,151,282 (GRCm39) |
L231* |
probably null |
Het |
| Hibadh |
A |
T |
6: 52,525,917 (GRCm39) |
N244K |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,684,060 (GRCm39) |
V723A |
probably damaging |
Het |
| Kcnn2 |
A |
T |
18: 45,788,273 (GRCm39) |
D192V |
probably damaging |
Het |
| Ksr2 |
G |
A |
5: 117,846,022 (GRCm39) |
E630K |
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,224,156 (GRCm39) |
H555R |
possibly damaging |
Het |
| Mycs |
A |
G |
X: 5,380,922 (GRCm39) |
F53L |
probably damaging |
Het |
| Ndufa10 |
G |
A |
1: 92,392,109 (GRCm39) |
Q215* |
probably null |
Het |
| Ninl |
C |
T |
2: 150,806,139 (GRCm39) |
A361T |
probably damaging |
Het |
| Pbsn |
A |
G |
X: 76,891,624 (GRCm39) |
C58R |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,280,335 (GRCm39) |
L720Q |
probably damaging |
Het |
| Prss12 |
T |
C |
3: 123,299,925 (GRCm39) |
F679L |
probably benign |
Het |
| Sohlh1 |
C |
T |
2: 25,735,660 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
C |
6: 48,471,035 (GRCm39) |
F701L |
probably benign |
Het |
| Tdp1 |
T |
C |
12: 99,921,290 (GRCm39) |
S609P |
probably benign |
Het |
| Tmtc4 |
T |
A |
14: 123,165,044 (GRCm39) |
N605I |
probably benign |
Het |
| Tnc |
G |
A |
4: 63,932,270 (GRCm39) |
P715S |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,468,834 (GRCm39) |
S1181P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,206,892 (GRCm39) |
|
probably benign |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,898 (GRCm39) |
F249S |
probably benign |
Het |
| Zfp382 |
T |
C |
7: 29,833,614 (GRCm39) |
S422P |
probably damaging |
Het |
|
| Other mutations in Aasdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Aasdh
|
APN |
5 |
77,026,381 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01013:Aasdh
|
APN |
5 |
77,034,053 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01558:Aasdh
|
APN |
5 |
77,036,464 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02544:Aasdh
|
APN |
5 |
77,049,961 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02614:Aasdh
|
APN |
5 |
77,044,215 (GRCm39) |
splice site |
probably benign |
|
|
IGL02678:Aasdh
|
APN |
5 |
77,035,867 (GRCm39) |
splice site |
probably benign |
|
|
IGL02739:Aasdh
|
APN |
5 |
77,026,364 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02947:Aasdh
|
APN |
5 |
77,049,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03398:Aasdh
|
APN |
5 |
77,039,566 (GRCm39) |
missense |
probably benign |
0.02 |
|
1mM(1):Aasdh
|
UTSW |
5 |
77,044,464 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0183:Aasdh
|
UTSW |
5 |
77,034,082 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0226:Aasdh
|
UTSW |
5 |
77,049,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0367:Aasdh
|
UTSW |
5 |
77,049,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0386:Aasdh
|
UTSW |
5 |
77,044,308 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0529:Aasdh
|
UTSW |
5 |
77,024,114 (GRCm39) |
nonsense |
probably null |
|
|
R0881:Aasdh
|
UTSW |
5 |
77,024,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0882:Aasdh
|
UTSW |
5 |
77,024,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1033:Aasdh
|
UTSW |
5 |
77,024,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1034:Aasdh
|
UTSW |
5 |
77,024,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1035:Aasdh
|
UTSW |
5 |
77,024,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1036:Aasdh
|
UTSW |
5 |
77,024,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1366:Aasdh
|
UTSW |
5 |
77,036,651 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1446:Aasdh
|
UTSW |
5 |
77,034,136 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1449:Aasdh
|
UTSW |
5 |
77,034,136 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1469:Aasdh
|
UTSW |
5 |
77,039,526 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1469:Aasdh
|
UTSW |
5 |
77,039,526 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1583:Aasdh
|
UTSW |
5 |
77,030,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1641:Aasdh
|
UTSW |
5 |
77,039,626 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1876:Aasdh
|
UTSW |
5 |
77,025,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Aasdh
|
UTSW |
5 |
77,039,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Aasdh
|
UTSW |
5 |
77,039,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3615:Aasdh
|
UTSW |
5 |
77,036,629 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3616:Aasdh
|
UTSW |
5 |
77,036,629 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3746:Aasdh
|
UTSW |
5 |
77,036,501 (GRCm39) |
nonsense |
probably null |
|
|
R3747:Aasdh
|
UTSW |
5 |
77,036,501 (GRCm39) |
nonsense |
probably null |
|
|
R3748:Aasdh
|
UTSW |
5 |
77,036,501 (GRCm39) |
nonsense |
probably null |
|
|
R3750:Aasdh
|
UTSW |
5 |
77,036,501 (GRCm39) |
nonsense |
probably null |
|
|
R3836:Aasdh
|
UTSW |
5 |
77,026,315 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4857:Aasdh
|
UTSW |
5 |
77,035,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4928:Aasdh
|
UTSW |
5 |
77,044,535 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4937:Aasdh
|
UTSW |
5 |
77,036,501 (GRCm39) |
nonsense |
probably null |
|
|
R5762:Aasdh
|
UTSW |
5 |
77,044,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5866:Aasdh
|
UTSW |
5 |
77,024,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5940:Aasdh
|
UTSW |
5 |
77,030,745 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6253:Aasdh
|
UTSW |
5 |
77,034,105 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6542:Aasdh
|
UTSW |
5 |
77,030,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6825:Aasdh
|
UTSW |
5 |
77,036,696 (GRCm39) |
splice site |
probably null |
|
|
R6868:Aasdh
|
UTSW |
5 |
77,039,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6876:Aasdh
|
UTSW |
5 |
77,044,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6961:Aasdh
|
UTSW |
5 |
77,024,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6963:Aasdh
|
UTSW |
5 |
77,044,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7069:Aasdh
|
UTSW |
5 |
77,024,203 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7220:Aasdh
|
UTSW |
5 |
77,049,772 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7545:Aasdh
|
UTSW |
5 |
77,027,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7673:Aasdh
|
UTSW |
5 |
77,030,555 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7703:Aasdh
|
UTSW |
5 |
77,035,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7890:Aasdh
|
UTSW |
5 |
77,031,969 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7978:Aasdh
|
UTSW |
5 |
77,036,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8046:Aasdh
|
UTSW |
5 |
77,044,325 (GRCm39) |
missense |
probably benign |
|
|
R8152:Aasdh
|
UTSW |
5 |
77,044,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Aasdh
|
UTSW |
5 |
77,034,124 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8884:Aasdh
|
UTSW |
5 |
77,039,641 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9028:Aasdh
|
UTSW |
5 |
77,023,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9361:Aasdh
|
UTSW |
5 |
77,030,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9519:Aasdh
|
UTSW |
5 |
77,030,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Aasdh
|
UTSW |
5 |
77,049,004 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Aasdh
|
UTSW |
5 |
77,039,643 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation