Incidental Mutation 'R0183:Aasdh'
ID |
23872 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aasdh
|
Ensembl Gene |
ENSMUSG00000055923 |
Gene Name |
aminoadipate-semialdehyde dehydrogenase |
Synonyms |
A230062G08Rik |
MMRRC Submission |
038448-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R0183 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
5 |
Chromosomal Location |
77021506-77053361 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 77034082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 490
(D490N)
|
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: D490N
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000069279 Gene: ENSMUSG00000055923 AA Change: D490N
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: D490N
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000113792 Gene: ENSMUSG00000055923 AA Change: D490N
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: D490N
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000117639 Gene: ENSMUSG00000055923 AA Change: D490N
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
84% (42/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
A |
T |
11: 84,401,251 (GRCm39) |
|
probably null |
Het |
Amer3 |
T |
A |
1: 34,626,838 (GRCm39) |
I359K |
probably damaging |
Het |
Appl1 |
A |
T |
14: 26,684,811 (GRCm39) |
D79E |
probably damaging |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Baz1a |
T |
A |
12: 54,958,172 (GRCm39) |
E1026D |
probably damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Card14 |
C |
T |
11: 119,217,524 (GRCm39) |
R386C |
probably damaging |
Het |
Cenpb |
T |
C |
2: 131,020,373 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
G |
A |
7: 7,298,090 (GRCm39) |
Q40* |
probably null |
Het |
Clec16a |
T |
C |
16: 10,377,886 (GRCm39) |
Y28H |
probably damaging |
Het |
Cul4a |
T |
C |
8: 13,183,790 (GRCm39) |
S393P |
probably damaging |
Het |
Dcbld2 |
A |
G |
16: 58,265,722 (GRCm39) |
D194G |
possibly damaging |
Het |
Dnah6 |
C |
T |
6: 73,059,906 (GRCm39) |
V2841I |
probably damaging |
Het |
Eaf1 |
T |
A |
14: 31,217,272 (GRCm39) |
L16Q |
probably damaging |
Het |
Eef1e1 |
C |
T |
13: 38,840,162 (GRCm39) |
A48T |
probably damaging |
Het |
Exoc3l |
C |
A |
8: 106,021,932 (GRCm39) |
R57L |
probably damaging |
Het |
Faf1 |
A |
G |
4: 109,792,807 (GRCm39) |
N593S |
probably benign |
Het |
Fosb |
A |
G |
7: 19,041,310 (GRCm39) |
I61T |
probably damaging |
Het |
Fstl5 |
A |
C |
3: 76,229,579 (GRCm39) |
I127L |
possibly damaging |
Het |
Gas2l2 |
T |
A |
11: 83,319,882 (GRCm39) |
M125L |
probably benign |
Het |
Gcnt1 |
C |
T |
19: 17,306,481 (GRCm39) |
D415N |
probably benign |
Het |
Gtpbp4 |
A |
G |
13: 9,024,997 (GRCm39) |
M531T |
probably benign |
Het |
Gucy1b2 |
T |
A |
14: 62,656,589 (GRCm39) |
K256M |
probably damaging |
Het |
Igf2bp2 |
A |
T |
16: 21,897,480 (GRCm39) |
Y244* |
probably null |
Het |
Jkamp |
T |
C |
12: 72,140,809 (GRCm39) |
I118T |
possibly damaging |
Het |
Kalrn |
A |
T |
16: 33,991,749 (GRCm39) |
|
probably null |
Het |
Kcnma1 |
A |
T |
14: 23,558,120 (GRCm39) |
D317E |
probably damaging |
Het |
Lipo2 |
A |
T |
19: 33,726,951 (GRCm39) |
|
probably null |
Het |
Lrig3 |
T |
A |
10: 125,846,061 (GRCm39) |
I830K |
probably damaging |
Het |
Map3k4 |
A |
G |
17: 12,454,015 (GRCm39) |
I1429T |
probably damaging |
Het |
Mkks |
G |
A |
2: 136,722,606 (GRCm39) |
L184F |
probably benign |
Het |
Mmp19 |
C |
T |
10: 128,634,872 (GRCm39) |
T424I |
possibly damaging |
Het |
Mrps23 |
A |
G |
11: 88,100,980 (GRCm39) |
E57G |
probably damaging |
Het |
Myh7 |
T |
C |
14: 55,216,333 (GRCm39) |
T1282A |
probably benign |
Het |
Or2y10 |
A |
G |
11: 49,455,675 (GRCm39) |
D309G |
probably benign |
Het |
Or8k1 |
T |
A |
2: 86,047,173 (GRCm39) |
S294C |
probably damaging |
Het |
Phf19 |
T |
C |
2: 34,801,214 (GRCm39) |
N75S |
probably damaging |
Het |
Pink1 |
T |
G |
4: 138,041,490 (GRCm39) |
H477P |
probably damaging |
Het |
Ppp6r2 |
G |
A |
15: 89,169,990 (GRCm39) |
C835Y |
probably damaging |
Het |
Prkcq |
T |
C |
2: 11,257,973 (GRCm39) |
I295T |
probably damaging |
Het |
Ptpn13 |
T |
C |
5: 103,664,274 (GRCm39) |
S421P |
probably benign |
Het |
Ptpn6 |
A |
G |
6: 124,705,914 (GRCm39) |
S77P |
probably damaging |
Het |
Ptpre |
G |
T |
7: 135,271,574 (GRCm39) |
M389I |
probably benign |
Het |
Ranbp9 |
T |
C |
13: 43,578,599 (GRCm39) |
D158G |
probably damaging |
Het |
Sec14l3 |
C |
T |
11: 4,025,547 (GRCm39) |
S357L |
probably benign |
Het |
Slc1a6 |
A |
G |
10: 78,627,067 (GRCm39) |
T135A |
probably damaging |
Het |
Spef2 |
A |
T |
15: 9,716,445 (GRCm39) |
D323E |
possibly damaging |
Het |
Taf2 |
T |
A |
15: 54,919,186 (GRCm39) |
K396N |
possibly damaging |
Het |
Tcf12 |
A |
T |
9: 71,824,309 (GRCm39) |
V94E |
probably damaging |
Het |
Trim24 |
T |
A |
6: 37,920,415 (GRCm39) |
I404N |
possibly 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGGAGAAATTGCCCATCTGCAAAC -3'
(R):5'- TCTGAGCCTTCAGGAGTTCATTTCAAG -3'
Sequencing Primer
(F):5'- GGGTCTACCATAATTAACGCCAG -3'
(R):5'- CAGGAGTTCATTTCAAGATGGTTC -3'
|
Posted On |
2013-04-16 |