Incidental Mutation 'R6963:Aasdh'
ID |
543323 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aasdh
|
Ensembl Gene |
ENSMUSG00000055923 |
Gene Name |
aminoadipate-semialdehyde dehydrogenase |
Synonyms |
A230062G08Rik |
MMRRC Submission |
045073-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R6963 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
77021506-77053361 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 77044303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 196
(H196Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117639
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120963]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000146570]
|
AlphaFold |
Q80WC9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069709
AA Change: H196Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000069279 Gene: ENSMUSG00000055923 AA Change: H196Y
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: H196Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113792 Gene: ENSMUSG00000055923 AA Change: H196Y
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: ENSMUST00000123682
AA Change: H196Y
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000121050 Gene: ENSMUSG00000055923 AA Change: H196Y
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
7 |
231 |
1.7e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126741
AA Change: H196Y
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000118854 Gene: ENSMUSG00000055923 AA Change: H196Y
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
7 |
403 |
7.5e-51 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146570
AA Change: H196Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117639 Gene: ENSMUSG00000055923 AA Change: H196Y
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
7 |
449 |
2.1e-58 |
PFAM |
Pfam:PP-binding
|
556 |
628 |
1e-7 |
PFAM |
|
Meta Mutation Damage Score |
0.4279 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
Validation Efficiency |
100% (41/41) |
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 |
Abi3 |
G |
A |
11: 95,723,567 (GRCm39) |
|
probably benign |
Het |
Adgrb2 |
CG |
C |
4: 129,908,155 (GRCm39) |
|
probably null |
Het |
Asgr1 |
T |
C |
11: 69,946,794 (GRCm39) |
|
probably null |
Het |
Atp2c2 |
C |
T |
8: 120,457,006 (GRCm39) |
R203* |
probably null |
Het |
Brms1 |
T |
A |
19: 5,096,681 (GRCm39) |
I121N |
probably damaging |
Het |
Ccdc149 |
G |
A |
5: 52,596,439 (GRCm39) |
R58W |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,042,228 (GRCm39) |
E906G |
probably benign |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fry |
A |
G |
5: 150,381,309 (GRCm39) |
T444A |
probably benign |
Het |
Ggn |
A |
G |
7: 28,871,007 (GRCm39) |
E142G |
probably damaging |
Het |
Gm5150 |
A |
G |
3: 16,060,555 (GRCm39) |
|
probably benign |
Het |
Gm57858 |
A |
G |
3: 36,104,811 (GRCm39) |
Y17H |
probably benign |
Het |
Gp2 |
A |
G |
7: 119,052,120 (GRCm39) |
V198A |
probably benign |
Het |
Gstm3 |
A |
G |
3: 107,874,940 (GRCm39) |
V104A |
probably benign |
Het |
Idua |
A |
G |
5: 108,827,641 (GRCm39) |
K152E |
possibly damaging |
Het |
Igsf21 |
A |
G |
4: 139,755,041 (GRCm39) |
S443P |
probably benign |
Het |
Kdm5d |
C |
A |
Y: 937,975 (GRCm39) |
Q925K |
probably benign |
Het |
Ly6k |
G |
C |
15: 74,670,431 (GRCm39) |
P37R |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,424,713 (GRCm39) |
S626P |
probably damaging |
Het |
Mcoln2 |
A |
G |
3: 145,877,790 (GRCm39) |
K137R |
probably damaging |
Het |
Mctp2 |
T |
C |
7: 71,877,804 (GRCm39) |
N298S |
probably damaging |
Het |
Myo10 |
T |
C |
15: 25,734,149 (GRCm39) |
I379T |
probably benign |
Het |
Myo15b |
G |
T |
11: 115,781,540 (GRCm39) |
|
probably null |
Het |
Nrg1 |
A |
G |
8: 32,407,690 (GRCm39) |
F181S |
probably benign |
Het |
Or5b24 |
C |
T |
19: 12,913,002 (GRCm39) |
A300V |
probably damaging |
Het |
Pals2 |
T |
C |
6: 50,140,635 (GRCm39) |
|
probably null |
Het |
Pde9a |
G |
T |
17: 31,662,861 (GRCm39) |
V97L |
probably benign |
Het |
Rfc5 |
T |
A |
5: 117,525,931 (GRCm39) |
|
probably null |
Het |
Rnf145 |
T |
C |
11: 44,455,104 (GRCm39) |
S662P |
probably benign |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
Scfd2 |
A |
G |
5: 74,642,870 (GRCm39) |
V359A |
probably damaging |
Het |
Skp2 |
T |
C |
15: 9,139,515 (GRCm39) |
|
probably null |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Tekt2 |
T |
C |
4: 126,218,110 (GRCm39) |
E134G |
probably damaging |
Het |
Ttll4 |
T |
A |
1: 74,720,975 (GRCm39) |
I547K |
probably damaging |
Het |
Vmn1r4 |
T |
C |
6: 56,933,769 (GRCm39) |
I91T |
probably damaging |
Het |
Vmn2r93 |
T |
C |
17: 18,536,849 (GRCm39) |
S511P |
probably damaging |
Het |
Vps50 |
T |
C |
6: 3,592,577 (GRCm39) |
|
probably null |
Het |
Zeb2 |
T |
G |
2: 44,878,811 (GRCm39) |
E1141A |
probably damaging |
Het |
Zfp1002 |
A |
G |
2: 150,097,265 (GRCm39) |
C55R |
probably damaging |
Het |
Zfp326 |
T |
A |
5: 106,059,359 (GRCm39) |
Y373* |
probably null |
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 |
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 |
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'- AACAAACTGGCATCAAACTTGG -3'
(R):5'- AGACAGTTCTGAACTATGACACAG -3'
Sequencing Primer
(F):5'- AACTGGCATCAAACTTGGTCTCTTTC -3'
(R):5'- TGACACAGTTTCCGTGGAAC -3'
|
Posted On |
2018-11-28 |