Incidental Mutation 'R6825:Aasdh'
ID |
534092 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aasdh
|
Ensembl Gene |
ENSMUSG00000055923 |
Gene Name |
aminoadipate-semialdehyde dehydrogenase |
Synonyms |
A230062G08Rik |
MMRRC Submission |
044937-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R6825 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
77021506-77053361 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 77036696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117639
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120963]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000146570]
|
AlphaFold |
Q80WC9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000069709
|
SMART Domains |
Protein: ENSMUSP00000069279 Gene: ENSMUSG00000055923
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 null
Transcript: ENSMUST00000120963
|
SMART Domains |
Protein: ENSMUSP00000113792 Gene: ENSMUSG00000055923
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 null
Transcript: ENSMUST00000146570
|
SMART Domains |
Protein: ENSMUSP00000117639 Gene: ENSMUSG00000055923
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 |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
100% (62/62) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
T |
12: 72,954,654 (GRCm39) |
S206T |
probably benign |
Het |
Adam10 |
G |
T |
9: 70,668,884 (GRCm39) |
C400F |
probably damaging |
Het |
Ankle2 |
A |
T |
5: 110,398,635 (GRCm39) |
R561S |
probably null |
Het |
Arhgef5 |
C |
T |
6: 43,251,895 (GRCm39) |
T882I |
probably damaging |
Het |
Arpc1a |
A |
T |
5: 145,032,936 (GRCm39) |
K82* |
probably null |
Het |
Card11 |
C |
A |
5: 140,863,837 (GRCm39) |
R967L |
probably benign |
Het |
Ccdc82 |
G |
T |
9: 13,251,601 (GRCm39) |
|
probably benign |
Het |
Cebpz |
T |
C |
17: 79,227,392 (GRCm39) |
D1026G |
probably damaging |
Het |
Cit |
A |
T |
5: 116,119,833 (GRCm39) |
Q1321L |
probably damaging |
Het |
Clcn2 |
C |
A |
16: 20,528,408 (GRCm39) |
|
probably benign |
Het |
Csf3 |
G |
C |
11: 98,593,273 (GRCm39) |
G130A |
probably damaging |
Het |
Cul2 |
T |
A |
18: 3,434,946 (GRCm39) |
S737T |
probably damaging |
Het |
Cyp1a2 |
G |
A |
9: 57,584,543 (GRCm39) |
H504Y |
probably benign |
Het |
Cyp3a44 |
G |
A |
5: 145,716,396 (GRCm39) |
P398L |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,960,147 (GRCm39) |
I2206T |
probably damaging |
Het |
Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
Epb41l5 |
A |
T |
1: 119,547,931 (GRCm39) |
D157E |
possibly damaging |
Het |
Ercc8 |
T |
C |
13: 108,295,343 (GRCm39) |
S6P |
probably damaging |
Het |
Faxc |
T |
C |
4: 21,931,672 (GRCm39) |
S37P |
probably benign |
Het |
Fbxl19 |
T |
A |
7: 127,349,187 (GRCm39) |
I119K |
probably damaging |
Het |
Frmd4b |
A |
G |
6: 97,302,437 (GRCm39) |
V195A |
possibly damaging |
Het |
Fut9 |
A |
T |
4: 25,619,925 (GRCm39) |
S296R |
probably benign |
Het |
Gas6 |
T |
C |
8: 13,533,674 (GRCm39) |
N112D |
probably benign |
Het |
H2-Q1 |
T |
C |
17: 35,540,028 (GRCm39) |
L99P |
probably damaging |
Het |
Helq |
A |
T |
5: 100,940,561 (GRCm39) |
I346N |
probably damaging |
Het |
Hepacam |
A |
G |
9: 37,278,976 (GRCm39) |
K2E |
possibly damaging |
Het |
Itgae |
T |
C |
11: 73,009,322 (GRCm39) |
M502T |
possibly damaging |
Het |
Kmt2a |
G |
A |
9: 44,729,704 (GRCm39) |
|
probably benign |
Het |
Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
T |
4: 123,277,015 (GRCm39) |
|
probably null |
Het |
Mgat4a |
T |
A |
1: 37,503,515 (GRCm39) |
K220* |
probably null |
Het |
Or2t43 |
T |
C |
11: 58,457,476 (GRCm39) |
R232G |
possibly damaging |
Het |
Or4c104 |
T |
C |
2: 88,586,255 (GRCm39) |
I255V |
possibly damaging |
Het |
Or5b3 |
G |
A |
19: 13,388,514 (GRCm39) |
V194I |
probably benign |
Het |
Pex5 |
A |
T |
6: 124,391,340 (GRCm39) |
M18K |
probably damaging |
Het |
Phlda3 |
T |
C |
1: 135,694,562 (GRCm39) |
*126Q |
probably null |
Het |
Plxna1 |
G |
T |
6: 89,297,597 (GRCm39) |
D1862E |
probably benign |
Het |
Pold4 |
A |
T |
19: 4,282,164 (GRCm39) |
I7F |
possibly damaging |
Het |
Prkaa1 |
A |
T |
15: 5,173,432 (GRCm39) |
I19F |
possibly damaging |
Het |
Prl7d1 |
T |
G |
13: 27,894,125 (GRCm39) |
E148A |
probably benign |
Het |
Prr14l |
A |
T |
5: 32,985,892 (GRCm39) |
V1201E |
possibly damaging |
Het |
Rab3gap1 |
T |
C |
1: 127,858,158 (GRCm39) |
C510R |
probably damaging |
Het |
Rhbdf1 |
C |
T |
11: 32,159,970 (GRCm39) |
R802H |
probably damaging |
Het |
Rpl18a |
A |
C |
8: 71,348,836 (GRCm39) |
F47V |
probably damaging |
Het |
Sema5b |
C |
A |
16: 35,448,377 (GRCm39) |
|
probably null |
Het |
Sspo |
G |
A |
6: 48,442,459 (GRCm39) |
G1985R |
probably benign |
Het |
Tcaf2 |
C |
T |
6: 42,606,452 (GRCm39) |
A501T |
probably benign |
Het |
Tcerg1 |
A |
G |
18: 42,681,542 (GRCm39) |
D563G |
probably damaging |
Het |
Tdh |
G |
A |
14: 63,733,281 (GRCm39) |
T155M |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,937,711 (GRCm39) |
N1654S |
probably benign |
Het |
Tlr5 |
A |
T |
1: 182,800,609 (GRCm39) |
|
probably benign |
Het |
Tns1 |
G |
T |
1: 74,041,482 (GRCm39) |
C136* |
probably null |
Het |
Tomm5 |
A |
T |
4: 45,106,443 (GRCm39) |
|
probably null |
Het |
Trio |
A |
T |
15: 27,889,394 (GRCm39) |
F512I |
probably damaging |
Het |
Ttll5 |
A |
T |
12: 85,930,102 (GRCm39) |
|
probably null |
Het |
Upp1 |
T |
A |
11: 9,081,707 (GRCm39) |
H81Q |
probably benign |
Het |
Usp42 |
A |
G |
5: 143,713,562 (GRCm39) |
S71P |
probably damaging |
Het |
Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
Zap70 |
A |
G |
1: 36,817,471 (GRCm39) |
Y238C |
probably damaging |
Het |
Zfp398 |
A |
G |
6: 47,843,265 (GRCm39) |
D307G |
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 |
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 |
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'- CTGGATACCTCTGTGATACCATAG -3'
(R):5'- CACTGTGAAATATTTACTCAGGGC -3'
Sequencing Primer
(F):5'- ATGTTAAATATCTGGGTTCTGTTGCC -3'
(R):5'- CCCAGTGGGTCAGAGTATTTCC -3'
|
Posted On |
2018-09-12 |