Incidental Mutation 'IGL01013:Aasdh'
| ID |
53567 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| Accession Numbers |
Genbank: NM_173765.3; Ensembl: ENSMUST00000120963
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
IGL01013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
76873659-76905514 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76886206 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 499
(E499D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120963]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000146570]
[ENSMUST00000149602]
|
| AlphaFold |
Q80WC9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069709
AA Change: E499D
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: E499D
| 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 |
possibly damaging
Transcript: ENSMUST00000120963
AA Change: E499D
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: E499D
| 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 |
noncoding transcript
Transcript: ENSMUST00000123059
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123682
|
| SMART Domains |
Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
231 |
1.7e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126741
|
| SMART Domains |
Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
403 |
7.5e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135697
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146570
AA Change: E499D
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: E499D
| 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 |
probably benign
Transcript: ENSMUST00000149602
|
| SMART Domains |
Protein: ENSMUSP00000117489
Gene: ENSMUSG00000055923
| Domain | Start | End | E-Value | Type |
|---|
|
PQQ
|
21 |
53 |
4.37e-2 |
SMART |
|
PQQ
|
63 |
95 |
2.3e1 |
SMART |
|
Blast:PQQ
|
104 |
130 |
2e-6 |
BLAST |
|
PQQ
|
141 |
173 |
2.61e2 |
SMART |
|
low complexity region
|
191 |
200 |
N/A |
INTRINSIC |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,038,185 (GRCm38) |
L2059* |
probably null |
Het |
| Ankar |
T |
A |
1: 72,650,989 (GRCm38) |
I1228F |
possibly damaging |
Het |
| Appl1 |
A |
T |
14: 26,949,476 (GRCm38) |
Y340N |
possibly damaging |
Het |
| Atp8b4 |
C |
A |
2: 126,323,087 (GRCm38) |
R1103L |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,689,013 (GRCm38) |
V308A |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,581,339 (GRCm38) |
P1534L |
probably benign |
Het |
| Ccdc78 |
A |
G |
17: 25,789,054 (GRCm38) |
E313G |
possibly damaging |
Het |
| Cep57l1 |
G |
A |
10: 41,740,869 (GRCm38) |
R141* |
probably null |
Het |
| Cpsf1 |
G |
A |
15: 76,599,297 (GRCm38) |
Q883* |
probably null |
Het |
| Crot |
A |
G |
5: 8,993,575 (GRCm38) |
Y16H |
probably benign |
Het |
| Cyld |
T |
G |
8: 88,742,362 (GRCm38) |
L587R |
probably damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,031,395 (GRCm38) |
|
probably null |
Het |
| Fam89b |
G |
T |
19: 5,729,369 (GRCm38) |
D53E |
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,267,786 (GRCm38) |
M226V |
probably benign |
Het |
| Gm10722 |
A |
T |
9: 3,002,230 (GRCm38) |
Y184F |
probably damaging |
Het |
| Hp |
C |
A |
8: 109,579,021 (GRCm38) |
|
probably benign |
Het |
| Igsf9b |
G |
T |
9: 27,334,304 (GRCm38) |
R1189L |
probably damaging |
Het |
| Ilf3 |
A |
G |
9: 21,399,691 (GRCm38) |
N620D |
possibly damaging |
Het |
| Jakmip3 |
A |
C |
7: 139,017,573 (GRCm38) |
E228A |
possibly damaging |
Het |
| Kpna3 |
A |
T |
14: 61,370,517 (GRCm38) |
I413K |
probably damaging |
Het |
| Letm1 |
A |
T |
5: 33,762,590 (GRCm38) |
C202S |
possibly damaging |
Het |
| Lmod2 |
C |
A |
6: 24,604,135 (GRCm38) |
Q370K |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,827,526 (GRCm38) |
|
probably benign |
Het |
| Mcidas |
T |
A |
13: 112,997,585 (GRCm38) |
|
probably benign |
Het |
| Mme |
A |
G |
3: 63,327,860 (GRCm38) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,328,425 (GRCm38) |
W1306R |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 4,030,716 (GRCm38) |
Q473K |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,648,066 (GRCm38) |
C719* |
probably null |
Het |
| Nsun7 |
T |
C |
5: 66,283,601 (GRCm38) |
I355T |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,729,003 (GRCm38) |
L560P |
probably damaging |
Het |
| Parl |
C |
A |
16: 20,282,790 (GRCm38) |
A285S |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,793,834 (GRCm38) |
M4795L |
unknown |
Het |
| Polr2f |
A |
G |
15: 79,146,129 (GRCm38) |
Y56C |
probably damaging |
Het |
| Rasgrp2 |
A |
T |
19: 6,404,383 (GRCm38) |
H152L |
probably damaging |
Het |
| Rpl10l |
T |
C |
12: 66,284,227 (GRCm38) |
D44G |
probably benign |
Het |
| Slc25a16 |
A |
G |
10: 62,944,433 (GRCm38) |
|
probably null |
Het |
| Snrnp200 |
G |
A |
2: 127,232,472 (GRCm38) |
E1411K |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,625,065 (GRCm38) |
R3Q |
probably damaging |
Het |
| Tbc1d32 |
G |
T |
10: 56,201,959 (GRCm38) |
|
probably null |
Het |
| Tcf7l2 |
T |
C |
19: 55,919,627 (GRCm38) |
|
probably benign |
Het |
| Tnrc6c |
G |
T |
11: 117,722,029 (GRCm38) |
V498L |
probably benign |
Het |
| Tymp |
G |
A |
15: 89,376,310 (GRCm38) |
H102Y |
probably damaging |
Het |
| Wdr76 |
T |
C |
2: 121,535,497 (GRCm38) |
S492P |
probably benign |
Het |
| Zc3h12d |
T |
C |
10: 7,839,956 (GRCm38) |
I41T |
probably damaging |
Het |
|
| Other mutations in Aasdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Aasdh
|
APN |
5 |
76,878,534 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01558:Aasdh
|
APN |
5 |
76,888,617 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02544:Aasdh
|
APN |
5 |
76,902,114 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL02614:Aasdh
|
APN |
5 |
76,896,368 (GRCm38) |
splice site |
probably benign |
|
|
IGL02678:Aasdh
|
APN |
5 |
76,888,020 (GRCm38) |
splice site |
probably benign |
|
|
IGL02739:Aasdh
|
APN |
5 |
76,878,517 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL02947:Aasdh
|
APN |
5 |
76,902,110 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03116:Aasdh
|
APN |
5 |
76,902,089 (GRCm38) |
splice site |
probably null |
|
|
IGL03398:Aasdh
|
APN |
5 |
76,891,719 (GRCm38) |
missense |
probably benign |
0.02 |
|
1mM(1):Aasdh
|
UTSW |
5 |
76,896,617 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0183:Aasdh
|
UTSW |
5 |
76,886,235 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0226:Aasdh
|
UTSW |
5 |
76,902,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0367:Aasdh
|
UTSW |
5 |
76,902,114 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0386:Aasdh
|
UTSW |
5 |
76,896,461 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0529:Aasdh
|
UTSW |
5 |
76,876,267 (GRCm38) |
nonsense |
probably null |
|
|
R0881:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0882:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1033:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1034:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1035:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1036:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1366:Aasdh
|
UTSW |
5 |
76,888,804 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1446:Aasdh
|
UTSW |
5 |
76,886,289 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1449:Aasdh
|
UTSW |
5 |
76,886,289 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1469:Aasdh
|
UTSW |
5 |
76,891,679 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1469:Aasdh
|
UTSW |
5 |
76,891,679 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1583:Aasdh
|
UTSW |
5 |
76,882,681 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1641:Aasdh
|
UTSW |
5 |
76,891,779 (GRCm38) |
missense |
probably benign |
0.36 |
|
R1876:Aasdh
|
UTSW |
5 |
76,877,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1895:Aasdh
|
UTSW |
5 |
76,891,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1946:Aasdh
|
UTSW |
5 |
76,891,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3615:Aasdh
|
UTSW |
5 |
76,888,782 (GRCm38) |
missense |
probably benign |
0.20 |
|
R3616:Aasdh
|
UTSW |
5 |
76,888,782 (GRCm38) |
missense |
probably benign |
0.20 |
|
R3746:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R3747:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R3748:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R3750:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R3836:Aasdh
|
UTSW |
5 |
76,878,468 (GRCm38) |
missense |
probably benign |
0.32 |
|
R4857:Aasdh
|
UTSW |
5 |
76,887,284 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4928:Aasdh
|
UTSW |
5 |
76,896,688 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R4937:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R5762:Aasdh
|
UTSW |
5 |
76,896,598 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5866:Aasdh
|
UTSW |
5 |
76,876,211 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5940:Aasdh
|
UTSW |
5 |
76,882,898 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6253:Aasdh
|
UTSW |
5 |
76,886,258 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R6542:Aasdh
|
UTSW |
5 |
76,883,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6825:Aasdh
|
UTSW |
5 |
76,888,849 (GRCm38) |
splice site |
probably null |
|
|
R6868:Aasdh
|
UTSW |
5 |
76,891,680 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6876:Aasdh
|
UTSW |
5 |
76,896,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6961:Aasdh
|
UTSW |
5 |
76,876,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6963:Aasdh
|
UTSW |
5 |
76,896,456 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7069:Aasdh
|
UTSW |
5 |
76,876,356 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7220:Aasdh
|
UTSW |
5 |
76,901,925 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7545:Aasdh
|
UTSW |
5 |
76,880,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7673:Aasdh
|
UTSW |
5 |
76,882,708 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7703:Aasdh
|
UTSW |
5 |
76,888,077 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7890:Aasdh
|
UTSW |
5 |
76,884,122 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7978:Aasdh
|
UTSW |
5 |
76,888,668 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8046:Aasdh
|
UTSW |
5 |
76,896,478 (GRCm38) |
missense |
probably benign |
|
|
R8152:Aasdh
|
UTSW |
5 |
76,896,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8425:Aasdh
|
UTSW |
5 |
76,886,277 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R8884:Aasdh
|
UTSW |
5 |
76,891,794 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9028:Aasdh
|
UTSW |
5 |
76,876,130 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9361:Aasdh
|
UTSW |
5 |
76,882,378 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9519:Aasdh
|
UTSW |
5 |
76,882,725 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1088:Aasdh
|
UTSW |
5 |
76,901,157 (GRCm38) |
splice site |
probably null |
|
|
Z1176:Aasdh
|
UTSW |
5 |
76,891,796 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2013-06-28 |
Incidental Mutation