Incidental Mutation 'R6868:Aasdh'
| ID |
536012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R6868 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
77021506-77053361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77039527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 261
(V261M)
|
| 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: V261M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: V261M
| 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: V261M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: V261M
| 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 |
possibly damaging
Transcript: ENSMUST00000126741
AA Change: V261M
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: V261M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
403 |
7.5e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146570
AA Change: V261M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: V261M
| 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: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| 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 |
|---|
| A630010A05Rik |
A |
T |
16: 14,436,559 (GRCm39) |
N204I |
probably damaging |
Het |
| Adgrg7 |
A |
G |
16: 56,593,839 (GRCm39) |
F126L |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,373,855 (GRCm39) |
L87P |
probably damaging |
Het |
| Alcam |
G |
A |
16: 52,088,748 (GRCm39) |
S554F |
probably damaging |
Het |
| Ambra1 |
T |
C |
2: 91,747,878 (GRCm39) |
S1205P |
possibly damaging |
Het |
| Bst2 |
A |
C |
8: 71,987,404 (GRCm39) |
V150G |
unknown |
Het |
| C3 |
T |
C |
17: 57,511,029 (GRCm39) |
Y1659C |
possibly damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Cdk4 |
T |
C |
10: 126,900,870 (GRCm39) |
V174A |
probably benign |
Het |
| Ces2h |
T |
A |
8: 105,745,055 (GRCm39) |
N396K |
probably benign |
Het |
| Cfap144 |
C |
T |
11: 58,683,732 (GRCm39) |
D113N |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,811,501 (GRCm39) |
|
probably null |
Het |
| Cnih4 |
A |
G |
1: 180,993,762 (GRCm39) |
I76V |
probably null |
Het |
| Csmd2 |
G |
A |
4: 128,336,633 (GRCm39) |
V1404I |
probably benign |
Het |
| Ctrb1 |
T |
C |
8: 112,416,035 (GRCm39) |
D53G |
probably benign |
Het |
| Cul9 |
C |
A |
17: 46,833,109 (GRCm39) |
R1323L |
possibly damaging |
Het |
| Dchs1 |
A |
G |
7: 105,412,710 (GRCm39) |
V1230A |
possibly damaging |
Het |
| Dgat2 |
T |
C |
7: 98,807,513 (GRCm39) |
D219G |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,862,293 (GRCm39) |
T225A |
probably damaging |
Het |
| Dock9 |
G |
T |
14: 121,823,676 (GRCm39) |
A1412E |
probably benign |
Het |
| Dscam |
C |
T |
16: 96,631,140 (GRCm39) |
V292M |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,830,237 (GRCm39) |
V1509E |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,226,146 (GRCm39) |
Q1839R |
probably damaging |
Het |
| Gcat |
A |
G |
15: 78,919,566 (GRCm39) |
D177G |
probably damaging |
Het |
| Gss |
T |
C |
2: 155,409,732 (GRCm39) |
T235A |
possibly damaging |
Het |
| Ints10 |
T |
A |
8: 69,250,450 (GRCm39) |
M114K |
probably damaging |
Het |
| Ints5 |
T |
G |
19: 8,874,750 (GRCm39) |
L903R |
probably damaging |
Het |
| Lipo2 |
G |
T |
19: 33,725,862 (GRCm39) |
P130Q |
possibly damaging |
Het |
| Megf11 |
G |
A |
9: 64,587,591 (GRCm39) |
C494Y |
probably damaging |
Het |
| Milr1 |
T |
C |
11: 106,654,747 (GRCm39) |
Y162H |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,219,244 (GRCm39) |
I278N |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,793,132 (GRCm39) |
|
probably null |
Het |
| Myh15 |
G |
A |
16: 48,889,766 (GRCm39) |
C119Y |
probably damaging |
Het |
| Nap1l1 |
G |
A |
10: 111,330,669 (GRCm39) |
G358D |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,529,027 (GRCm39) |
I2178V |
possibly damaging |
Het |
| Nkx2-5 |
T |
C |
17: 27,060,268 (GRCm39) |
E21G |
probably damaging |
Het |
| Nos2 |
C |
T |
11: 78,848,332 (GRCm39) |
R967C |
probably benign |
Het |
| Or6c215 |
T |
C |
10: 129,638,037 (GRCm39) |
D119G |
probably damaging |
Het |
| Parp10 |
T |
C |
15: 76,127,306 (GRCm39) |
R44G |
probably damaging |
Het |
| Pced1b |
A |
G |
15: 97,282,222 (GRCm39) |
H87R |
probably damaging |
Het |
| Ppfia3 |
T |
A |
7: 45,003,036 (GRCm39) |
L524F |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,814,176 (GRCm39) |
T376A |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,557,111 (GRCm39) |
L449P |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,472,320 (GRCm39) |
R198G |
probably damaging |
Het |
| Pth2r |
C |
A |
1: 65,427,638 (GRCm39) |
A437E |
probably benign |
Het |
| Ptprh |
A |
T |
7: 4,604,864 (GRCm39) |
I60N |
probably benign |
Het |
| Pxmp2 |
C |
T |
5: 110,433,846 (GRCm39) |
R9Q |
probably damaging |
Het |
| Scarb2 |
T |
C |
5: 92,633,168 (GRCm39) |
K55E |
probably benign |
Het |
| Slc18b1 |
T |
C |
10: 23,680,132 (GRCm39) |
V109A |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 136,842,130 (GRCm39) |
D18E |
probably damaging |
Het |
| Stk40 |
A |
G |
4: 126,017,607 (GRCm39) |
R45G |
probably damaging |
Het |
| Tbxas1 |
A |
T |
6: 39,061,240 (GRCm39) |
Q513L |
probably damaging |
Het |
| Tcf4 |
A |
T |
18: 69,790,721 (GRCm39) |
|
probably null |
Het |
| Tmc6 |
T |
A |
11: 117,665,143 (GRCm39) |
I377F |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,868,938 (GRCm39) |
I146V |
probably damaging |
Het |
| Trac |
T |
A |
14: 54,458,049 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
T |
C |
2: 126,679,334 (GRCm39) |
D409G |
probably damaging |
Het |
| Usp39 |
A |
T |
6: 72,314,734 (GRCm39) |
V224E |
possibly damaging |
Het |
| Vmn1r184 |
A |
C |
7: 25,966,727 (GRCm39) |
M158L |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,852,218 (GRCm39) |
I33L |
probably benign |
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 |
|
|
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'- GACATGATTAACCGATTTCTCTTCC -3'
(R):5'- TTCCATACCCAAGCTTAGGCC -3'
Sequencing Primer
(F):5'- TACACTATCACTAATGCACTGGGAGG -3'
(R):5'- AGGCCTTCCTCATGACAACTGTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation