Incidental Mutation 'R1449:Aasdh'
ID |
159120 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aasdh
|
Ensembl Gene |
ENSMUSG00000055923 |
Gene Name |
aminoadipate-semialdehyde dehydrogenase |
Synonyms |
A230062G08Rik |
MMRRC Submission |
039504-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R1449 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
77021506-77053361 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 77034136 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 472
(A472T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117639
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120963]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000146570]
[ENSMUST00000149602]
|
AlphaFold |
Q80WC9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069709
AA Change: A472T
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000069279 Gene: ENSMUSG00000055923 AA Change: A472T
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 benign
Transcript: ENSMUST00000120963
AA Change: A472T
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113792 Gene: ENSMUSG00000055923 AA Change: A472T
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 |
probably benign
Transcript: ENSMUST00000146570
AA Change: A472T
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000117639 Gene: ENSMUSG00000055923 AA Change: A472T
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 |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.4%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
A |
G |
4: 137,182,666 (GRCm39) |
N274D |
possibly damaging |
Het |
6430571L13Rik |
T |
A |
9: 107,219,689 (GRCm39) |
N47K |
probably damaging |
Het |
Abca13 |
A |
G |
11: 9,248,580 (GRCm39) |
T2776A |
probably damaging |
Het |
Adamts10 |
T |
A |
17: 33,764,613 (GRCm39) |
V711D |
probably damaging |
Het |
Adrb3 |
G |
A |
8: 27,717,415 (GRCm39) |
R345C |
probably damaging |
Het |
Ak7 |
T |
C |
12: 105,708,520 (GRCm39) |
V325A |
possibly damaging |
Het |
Armc6 |
G |
A |
8: 70,677,943 (GRCm39) |
L129F |
probably benign |
Het |
Bend6 |
T |
C |
1: 33,917,424 (GRCm39) |
N10S |
probably benign |
Het |
Bmpr1b |
T |
C |
3: 141,577,134 (GRCm39) |
E59G |
possibly damaging |
Het |
Brd3 |
A |
G |
2: 27,340,263 (GRCm39) |
|
probably null |
Het |
Brd3 |
A |
G |
2: 27,347,028 (GRCm39) |
Y369H |
probably damaging |
Het |
Cacna1e |
C |
T |
1: 154,361,408 (GRCm39) |
|
probably null |
Het |
Camk4 |
A |
G |
18: 33,072,528 (GRCm39) |
D27G |
probably damaging |
Het |
Camkk1 |
T |
G |
11: 72,924,710 (GRCm39) |
S308A |
probably damaging |
Het |
Catsperb |
A |
G |
12: 101,554,456 (GRCm39) |
T717A |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,212,730 (GRCm39) |
S1563R |
probably damaging |
Het |
Cep44 |
A |
T |
8: 56,993,985 (GRCm39) |
S197R |
probably benign |
Het |
Col3a1 |
T |
A |
1: 45,360,771 (GRCm39) |
I67N |
unknown |
Het |
Dcaf12l1 |
T |
C |
X: 43,878,304 (GRCm39) |
T165A |
probably benign |
Het |
Dicer1 |
T |
C |
12: 104,695,502 (GRCm39) |
Y143C |
possibly damaging |
Het |
Dlg5 |
A |
G |
14: 24,185,711 (GRCm39) |
I1898T |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 30,985,908 (GRCm39) |
N3762D |
probably damaging |
Het |
Dscaml1 |
A |
T |
9: 45,653,521 (GRCm39) |
T1382S |
possibly damaging |
Het |
Entpd3 |
A |
T |
9: 120,395,555 (GRCm39) |
R513W |
probably damaging |
Het |
Foxred1 |
A |
G |
9: 35,120,738 (GRCm39) |
S132P |
probably damaging |
Het |
Ftsj3 |
T |
C |
11: 106,143,826 (GRCm39) |
I273V |
probably benign |
Het |
Hsd17b7 |
C |
T |
1: 169,787,251 (GRCm39) |
|
probably null |
Het |
Iars1 |
T |
A |
13: 49,887,186 (GRCm39) |
V1253D |
probably damaging |
Het |
Iqsec1 |
T |
A |
6: 90,667,790 (GRCm39) |
K216* |
probably null |
Het |
Itga7 |
A |
G |
10: 128,789,370 (GRCm39) |
D971G |
probably benign |
Het |
Kcnk2 |
G |
A |
1: 189,072,223 (GRCm39) |
S35L |
probably benign |
Het |
Kif13a |
T |
C |
13: 46,966,212 (GRCm39) |
Y402C |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,126,241 (GRCm39) |
S484P |
probably benign |
Het |
Lap3 |
T |
C |
5: 45,666,861 (GRCm39) |
|
probably null |
Het |
Lhx8 |
G |
T |
3: 154,033,742 (GRCm39) |
S46* |
probably null |
Het |
Lin7a |
T |
C |
10: 107,159,813 (GRCm39) |
S42P |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,261,585 (GRCm39) |
R1513Q |
probably damaging |
Het |
Maml2 |
C |
A |
9: 13,531,980 (GRCm39) |
P398Q |
possibly damaging |
Het |
Mast2 |
T |
C |
4: 116,166,210 (GRCm39) |
I1201V |
probably damaging |
Het |
Mmp20 |
A |
T |
9: 7,642,769 (GRCm39) |
D201V |
probably damaging |
Het |
Morn5 |
T |
A |
2: 35,947,092 (GRCm39) |
C123* |
probably null |
Het |
Mrpl4 |
A |
G |
9: 20,918,807 (GRCm39) |
K175E |
possibly damaging |
Het |
Nav3 |
A |
T |
10: 109,689,372 (GRCm39) |
S302T |
probably benign |
Het |
Ndrg2 |
T |
C |
14: 52,145,591 (GRCm39) |
Y217C |
probably damaging |
Het |
Nfx1 |
A |
G |
4: 40,976,803 (GRCm39) |
D159G |
probably damaging |
Het |
Nlrp9b |
A |
T |
7: 19,757,089 (GRCm39) |
T109S |
possibly damaging |
Het |
Npepps |
A |
G |
11: 97,097,980 (GRCm39) |
Y909H |
probably benign |
Het |
Or10g1 |
A |
G |
14: 52,648,024 (GRCm39) |
C102R |
probably damaging |
Het |
Or11g7 |
A |
G |
14: 50,691,378 (GRCm39) |
N290D |
probably damaging |
Het |
Or51a25 |
A |
T |
7: 102,373,397 (GRCm39) |
F100Y |
probably damaging |
Het |
Or6c211 |
T |
A |
10: 129,506,238 (GRCm39) |
D50V |
probably damaging |
Het |
Or6c69b |
A |
C |
10: 129,626,723 (GRCm39) |
V245G |
probably damaging |
Het |
Pcdh1 |
T |
C |
18: 38,322,929 (GRCm39) |
H968R |
probably damaging |
Het |
Pde1b |
T |
A |
15: 103,433,470 (GRCm39) |
I296N |
probably damaging |
Het |
Phldb1 |
T |
A |
9: 44,627,930 (GRCm39) |
T172S |
probably benign |
Het |
Plxdc2 |
T |
C |
2: 16,665,592 (GRCm39) |
V215A |
possibly damaging |
Het |
Poln |
A |
G |
5: 34,171,682 (GRCm39) |
I695T |
probably damaging |
Het |
Pou6f2 |
G |
T |
13: 18,347,000 (GRCm39) |
Q31K |
probably damaging |
Het |
Psd |
T |
A |
19: 46,313,250 (GRCm39) |
Y40F |
probably damaging |
Het |
Rnf126 |
T |
C |
10: 79,597,448 (GRCm39) |
N155D |
probably benign |
Het |
Rpl36-ps3 |
C |
A |
12: 12,962,032 (GRCm39) |
|
noncoding transcript |
Het |
Rrp15 |
C |
A |
1: 186,468,465 (GRCm39) |
V184F |
possibly damaging |
Het |
Rslcan18 |
G |
T |
13: 67,250,164 (GRCm39) |
L24M |
possibly damaging |
Het |
Sall1 |
A |
G |
8: 89,759,111 (GRCm39) |
I331T |
probably benign |
Het |
Slamf7 |
A |
T |
1: 171,468,606 (GRCm39) |
N95K |
possibly damaging |
Het |
Slc1a6 |
T |
C |
10: 78,635,951 (GRCm39) |
Y339H |
probably damaging |
Het |
Slc39a8 |
A |
G |
3: 135,532,446 (GRCm39) |
N72D |
probably benign |
Het |
Slf1 |
A |
G |
13: 77,231,568 (GRCm39) |
S604P |
probably damaging |
Het |
Slfn4 |
C |
T |
11: 83,079,819 (GRCm39) |
T110M |
probably benign |
Het |
Tnpo1 |
T |
C |
13: 99,015,220 (GRCm39) |
T116A |
probably damaging |
Het |
Tor1b |
T |
C |
2: 30,845,893 (GRCm39) |
I190T |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,800,138 (GRCm39) |
E357* |
probably null |
Het |
Tubg2 |
G |
T |
11: 101,047,699 (GRCm39) |
E95* |
probably null |
Het |
Ubap2 |
A |
G |
4: 41,209,351 (GRCm39) |
|
probably null |
Het |
Ube2i |
T |
C |
17: 25,487,538 (GRCm39) |
D67G |
possibly damaging |
Het |
Ubxn11 |
A |
G |
4: 133,852,203 (GRCm39) |
E50G |
probably damaging |
Het |
Wnk1 |
A |
G |
6: 119,929,779 (GRCm39) |
V1246A |
probably damaging |
Het |
Zcchc7 |
A |
G |
4: 44,929,124 (GRCm39) |
T38A |
possibly damaging |
Het |
Zfp236 |
A |
G |
18: 82,664,130 (GRCm39) |
S552P |
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 |
IGL03116:Aasdh
|
APN |
5 |
77,049,936 (GRCm39) |
splice site |
probably null |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACACCGCTTTGTCGCTTTACCAT -3'
(R):5'- ATTGGCATTGTCTAAAGCTGACACCT -3'
Sequencing Primer
(F):5'- CATGGCATGTAAATGGCAGG -3'
(R):5'- tcactgctctttcagaggac -3'
|
Posted On |
2014-03-14 |