Incidental Mutation 'R8046:Aasdh'
ID |
618743 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aasdh
|
Ensembl Gene |
ENSMUSG00000055923 |
Gene Name |
aminoadipate-semialdehyde dehydrogenase |
Synonyms |
A230062G08Rik |
MMRRC Submission |
067483-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R8046 (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 T
at 77044325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 188
(D188E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120963]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000146570]
|
AlphaFold |
Q80WC9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069709
AA Change: D188E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000069279 Gene: ENSMUSG00000055923 AA Change: D188E
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: D188E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113792 Gene: ENSMUSG00000055923 AA Change: D188E
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: D188E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121050 Gene: ENSMUSG00000055923 AA Change: D188E
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
7 |
231 |
1.7e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126741
AA Change: D188E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118854 Gene: ENSMUSG00000055923 AA Change: D188E
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
7 |
403 |
7.5e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146570
AA Change: D188E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117639 Gene: ENSMUSG00000055923 AA Change: D188E
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
7 |
449 |
2.1e-58 |
PFAM |
Pfam:PP-binding
|
556 |
628 |
1e-7 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (64/64) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahcyl2 |
T |
C |
6: 29,878,619 (GRCm39) |
L273P |
probably damaging |
Het |
Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
Angpt1 |
T |
C |
15: 42,359,752 (GRCm39) |
T227A |
probably benign |
Het |
Ankle1 |
C |
T |
8: 71,860,665 (GRCm39) |
T374M |
probably damaging |
Het |
Arhgap18 |
T |
C |
10: 26,763,853 (GRCm39) |
V481A |
probably damaging |
Het |
Astn2 |
A |
T |
4: 66,184,587 (GRCm39) |
L170* |
probably null |
Het |
Bms1 |
T |
C |
6: 118,385,105 (GRCm39) |
T368A |
probably benign |
Het |
Boll |
A |
G |
1: 55,385,562 (GRCm39) |
I121T |
probably damaging |
Het |
Brca1 |
A |
C |
11: 101,416,296 (GRCm39) |
C613G |
probably benign |
Het |
Cdk14 |
T |
A |
5: 5,299,159 (GRCm39) |
I65F |
possibly damaging |
Het |
Chn1 |
T |
C |
2: 73,448,363 (GRCm39) |
D335G |
probably damaging |
Het |
Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,613,508 (GRCm39) |
|
probably null |
Het |
Cplane2 |
A |
C |
4: 140,947,348 (GRCm39) |
Q243P |
probably damaging |
Het |
Crtac1 |
T |
C |
19: 42,297,492 (GRCm39) |
|
probably benign |
Het |
Dhx40 |
A |
T |
11: 86,675,766 (GRCm39) |
C507* |
probably null |
Het |
Dok2 |
A |
G |
14: 71,015,482 (GRCm39) |
D403G |
probably damaging |
Het |
Eif1ad14 |
T |
C |
12: 87,886,335 (GRCm39) |
D98G |
probably benign |
Het |
Eif2b5 |
A |
G |
16: 20,325,154 (GRCm39) |
T556A |
possibly damaging |
Het |
Eml6 |
A |
T |
11: 29,708,981 (GRCm39) |
V1480E |
probably damaging |
Het |
Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
Glra1 |
A |
G |
11: 55,427,225 (GRCm39) |
S120P |
probably damaging |
Het |
Habp4 |
T |
C |
13: 64,322,656 (GRCm39) |
S242P |
probably benign |
Het |
Igkv12-46 |
A |
G |
6: 69,741,570 (GRCm39) |
I95T |
probably damaging |
Het |
Itch |
G |
T |
2: 155,052,422 (GRCm39) |
G674V |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,327,957 (GRCm39) |
L92P |
probably damaging |
Het |
Kcnk2 |
A |
G |
1: 188,990,933 (GRCm39) |
|
probably null |
Het |
Krt75 |
T |
C |
15: 101,481,199 (GRCm39) |
T192A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,159,199 (GRCm39) |
K1694N |
|
Het |
Lrrc14 |
A |
G |
15: 76,598,731 (GRCm39) |
K456E |
possibly damaging |
Het |
Map1lc3a |
G |
T |
2: 155,119,129 (GRCm39) |
|
probably benign |
Het |
Naip5 |
T |
A |
13: 100,358,741 (GRCm39) |
M832L |
probably benign |
Het |
Nectin1 |
A |
G |
9: 43,703,798 (GRCm39) |
T263A |
probably benign |
Het |
Nnt |
A |
T |
13: 119,511,286 (GRCm39) |
M330K |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,308,683 (GRCm39) |
N1711D |
possibly damaging |
Het |
Olfm1 |
A |
G |
2: 28,119,135 (GRCm39) |
N285D |
possibly damaging |
Het |
Or4b1d |
T |
A |
2: 89,969,159 (GRCm39) |
E108V |
probably damaging |
Het |
Or51ab3 |
T |
A |
7: 103,201,584 (GRCm39) |
S197R |
possibly damaging |
Het |
Or8b8 |
A |
T |
9: 37,808,685 (GRCm39) |
|
probably benign |
Het |
Pag1 |
A |
G |
3: 9,764,482 (GRCm39) |
Y224H |
probably damaging |
Het |
Pde8a |
T |
C |
7: 80,958,587 (GRCm39) |
C322R |
possibly damaging |
Het |
Pde8a |
A |
T |
7: 80,967,118 (GRCm39) |
T420S |
probably benign |
Het |
Per2 |
A |
C |
1: 91,363,425 (GRCm39) |
L365R |
possibly damaging |
Het |
Pml |
A |
G |
9: 58,154,256 (GRCm39) |
|
probably null |
Het |
Ppp1r1a |
T |
A |
15: 103,446,305 (GRCm39) |
M1L |
possibly damaging |
Het |
Ppp3r2 |
G |
T |
4: 49,681,913 (GRCm39) |
C12* |
probably null |
Het |
Rbm20 |
C |
A |
19: 53,806,402 (GRCm39) |
A494D |
probably benign |
Het |
Scyl1 |
C |
T |
19: 5,810,620 (GRCm39) |
R531Q |
possibly damaging |
Het |
Skp2 |
C |
A |
15: 9,139,687 (GRCm39) |
V38F |
probably damaging |
Het |
Slc27a3 |
A |
G |
3: 90,296,974 (GRCm39) |
C42R |
probably damaging |
Het |
Tekt5 |
A |
G |
16: 10,213,277 (GRCm39) |
F3L |
probably benign |
Het |
Tmem200c |
A |
G |
17: 69,147,513 (GRCm39) |
K32R |
probably benign |
Het |
Tmprss11f |
T |
A |
5: 86,676,132 (GRCm39) |
R350W |
probably damaging |
Het |
Tph2 |
A |
T |
10: 115,015,499 (GRCm39) |
I121N |
possibly damaging |
Het |
Trim37 |
A |
G |
11: 87,037,794 (GRCm39) |
D176G |
possibly damaging |
Het |
Trpc4 |
A |
T |
3: 54,102,335 (GRCm39) |
I78F |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,609,829 (GRCm39) |
K17526E |
probably damaging |
Het |
Tuba8 |
A |
C |
6: 121,199,832 (GRCm39) |
Y172S |
probably damaging |
Het |
Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
Urb2 |
A |
T |
8: 124,754,771 (GRCm39) |
R159S |
possibly damaging |
Het |
Usp25 |
T |
A |
16: 76,906,063 (GRCm39) |
C840S |
probably damaging |
Het |
Vmn1r36 |
T |
A |
6: 66,692,964 (GRCm39) |
K304* |
probably null |
Het |
Vmn1r37 |
C |
A |
6: 66,708,656 (GRCm39) |
T94N |
probably damaging |
Het |
Vmn2r7 |
T |
C |
3: 64,614,479 (GRCm39) |
N445S |
probably damaging |
Het |
Wnk4 |
G |
A |
11: 101,164,918 (GRCm39) |
G749D |
probably benign |
Het |
Wscd2 |
G |
A |
5: 113,689,176 (GRCm39) |
V61I |
probably benign |
Het |
Zfp85 |
T |
A |
13: 67,897,098 (GRCm39) |
R325* |
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 |
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 |
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'- ACTGGCATCAAACTTGGTCTC -3'
(R):5'- CATGAGACAGTTCTGAACTATGACAC -3'
Sequencing Primer
(F):5'- GGCATCAAACTTGGTCTCTTTCTG -3'
(R):5'- TGACACAGTTTCCGTGGAAC -3'
|
Posted On |
2020-01-23 |