Incidental Mutation 'R7890:Aasdh'
| ID |
609255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| MMRRC Submission |
045942-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R7890 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
77021506-77053361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77031969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 551
(K551N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113792
(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: K551N
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: K551N
| 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: K551N
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: K551N
| 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
|
| 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 |
probably benign
Transcript: ENSMUST00000146570
AA Change: K551N
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: K551N
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
A |
C |
7: 43,903,528 (GRCm39) |
L262R |
probably damaging |
Het |
| Acsf3 |
G |
T |
8: 123,512,704 (GRCm39) |
|
probably null |
Het |
| Ago4 |
T |
C |
4: 126,419,869 (GRCm39) |
Q36R |
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,968,379 (GRCm39) |
I672K |
probably benign |
Het |
| Astn1 |
A |
T |
1: 158,407,903 (GRCm39) |
D628V |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,462,846 (GRCm39) |
V870A |
possibly damaging |
Het |
| Camk4 |
T |
C |
18: 33,318,058 (GRCm39) |
V405A |
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,197,215 (GRCm39) |
S146T |
|
Het |
| Cflar |
T |
A |
1: 58,791,915 (GRCm39) |
L406Q |
|
Het |
| Clic6 |
T |
A |
16: 92,296,275 (GRCm39) |
S312T |
probably benign |
Het |
| Col5a2 |
T |
C |
1: 45,444,147 (GRCm39) |
|
probably null |
Het |
| Ctc1 |
C |
A |
11: 68,917,355 (GRCm39) |
Q384K |
probably damaging |
Het |
| Defa24 |
A |
G |
8: 22,224,556 (GRCm39) |
K2E |
probably damaging |
Het |
| Dis3l |
C |
A |
9: 64,229,753 (GRCm39) |
A309S |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,962,898 (GRCm39) |
S1806P |
probably damaging |
Het |
| Dolk |
C |
T |
2: 30,174,726 (GRCm39) |
V440I |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,762,298 (GRCm39) |
|
probably null |
Het |
| Fntb |
T |
C |
12: 76,920,224 (GRCm39) |
|
probably null |
Het |
| Gm4846 |
A |
T |
1: 166,322,228 (GRCm39) |
V113E |
probably benign |
Het |
| Gm5592 |
G |
T |
7: 40,936,183 (GRCm39) |
Q228H |
probably damaging |
Het |
| Gm5916 |
T |
A |
9: 36,032,291 (GRCm39) |
T48S |
possibly damaging |
Het |
| Ift172 |
G |
T |
5: 31,440,425 (GRCm39) |
Y287* |
probably null |
Het |
| Il27ra |
T |
C |
8: 84,760,614 (GRCm39) |
I450M |
probably damaging |
Het |
| Krtap31-2 |
T |
A |
11: 99,827,377 (GRCm39) |
C70S |
possibly damaging |
Het |
| Lipo4 |
T |
A |
19: 33,478,964 (GRCm39) |
H292L |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,915,154 (GRCm39) |
F3283L |
probably damaging |
Het |
| Mctp1 |
T |
G |
13: 76,975,876 (GRCm39) |
C750G |
probably damaging |
Het |
| Msantd5 |
C |
T |
11: 51,125,665 (GRCm39) |
S196L |
probably damaging |
Het |
| Mtmr7 |
T |
C |
8: 41,004,776 (GRCm39) |
D600G |
possibly damaging |
Het |
| Mylk |
C |
T |
16: 34,784,018 (GRCm39) |
Q1395* |
probably null |
Het |
| Nap1l5 |
T |
A |
6: 58,883,873 (GRCm39) |
D27V |
probably damaging |
Het |
| Nfkbib |
T |
C |
7: 28,461,512 (GRCm39) |
D75G |
probably damaging |
Het |
| Nlrc4 |
T |
A |
17: 74,744,503 (GRCm39) |
M793L |
probably benign |
Het |
| Or13m2-ps1 |
T |
A |
6: 42,778,426 (GRCm39) |
C250* |
probably null |
Het |
| Or52ab4 |
G |
T |
7: 102,987,537 (GRCm39) |
C92F |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,250 (GRCm39) |
S109P |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,799 (GRCm39) |
M285T |
probably benign |
Het |
| Or8g37 |
C |
T |
9: 39,731,310 (GRCm39) |
A125V |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,478,146 (GRCm39) |
R207Q |
probably damaging |
Het |
| Plek |
T |
C |
11: 16,945,238 (GRCm39) |
T54A |
probably benign |
Het |
| Pno1 |
C |
A |
11: 17,161,443 (GRCm39) |
R22L |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,903,510 (GRCm39) |
N287K |
probably damaging |
Het |
| Rapgef6 |
C |
G |
11: 54,517,549 (GRCm39) |
H414D |
probably damaging |
Het |
| Rpa1 |
CA |
C |
11: 75,198,050 (GRCm39) |
|
probably null |
Het |
| Rpap2 |
T |
C |
5: 107,754,777 (GRCm39) |
C136R |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,559,251 (GRCm39) |
E863K |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,757,257 (GRCm39) |
I366N |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,373,456 (GRCm39) |
I508V |
probably benign |
Het |
| Sec14l3 |
A |
G |
11: 4,024,795 (GRCm39) |
D248G |
probably damaging |
Het |
| Six6 |
A |
T |
12: 72,987,317 (GRCm39) |
Q163L |
probably benign |
Het |
| Slco6c1 |
A |
G |
1: 96,990,192 (GRCm39) |
V683A |
possibly damaging |
Het |
| Smc1b |
A |
G |
15: 84,950,529 (GRCm39) |
V1165A |
probably damaging |
Het |
| Smgc |
A |
T |
15: 91,731,279 (GRCm39) |
Q241L |
possibly damaging |
Het |
| Tdrp |
A |
T |
8: 14,005,727 (GRCm39) |
S65T |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,555,663 (GRCm39) |
Y785F |
probably damaging |
Het |
| Themis2 |
T |
G |
4: 132,516,954 (GRCm39) |
Q182P |
probably damaging |
Het |
| Tmem86b |
G |
T |
7: 4,631,404 (GRCm39) |
S216* |
probably null |
Het |
| Ttyh2 |
T |
A |
11: 114,577,272 (GRCm39) |
I61N |
possibly damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,802 (GRCm39) |
T397S |
probably benign |
Het |
| Zfp141 |
C |
T |
7: 42,125,903 (GRCm39) |
D190N |
probably damaging |
Het |
| Zfp58 |
T |
C |
13: 67,640,114 (GRCm39) |
R126G |
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 |
|
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 |
|
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'- ATTAAGGGAGGTATGCTAATTGGC -3'
(R):5'- CTGGGGCTAAATGGACTCAG -3'
Sequencing Primer
(F):5'- TGCTAATTGGCATATACAATAACAGC -3'
(R):5'- GTGAGTCACCTAGGATCTTGTACAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation