Incidental Mutation 'R1446:Aasdh'
| ID |
158859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| MMRRC Submission |
039501-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R1446 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
77021506-77053361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77034136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 472
(A472T)
|
| 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: A472T
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: A472T
| 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: A472T
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: A472T
| 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: A472T
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: A472T
| 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: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.6%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,007,480 (GRCm39) |
|
probably null |
Het |
| Ahcyl2 |
T |
C |
6: 29,891,239 (GRCm39) |
S448P |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 90,346,935 (GRCm39) |
Y745C |
probably benign |
Het |
| Anxa1 |
A |
T |
19: 20,351,103 (GRCm39) |
L339Q |
probably damaging |
Het |
| Apoa4 |
A |
G |
9: 46,153,591 (GRCm39) |
D64G |
probably benign |
Het |
| Arpc1a |
A |
G |
5: 145,037,896 (GRCm39) |
|
probably null |
Het |
| Bank1 |
C |
T |
3: 135,769,904 (GRCm39) |
G727R |
probably damaging |
Het |
| Best2 |
T |
C |
8: 85,734,593 (GRCm39) |
Q375R |
probably benign |
Het |
| Cacna1b |
T |
A |
2: 24,596,189 (GRCm39) |
M501L |
probably benign |
Het |
| Col27a1 |
T |
A |
4: 63,143,040 (GRCm39) |
Y243N |
probably damaging |
Het |
| Cyp11a1 |
A |
T |
9: 57,922,560 (GRCm39) |
Q80L |
possibly damaging |
Het |
| Dnah10 |
T |
A |
5: 124,866,860 (GRCm39) |
W2260R |
probably damaging |
Het |
| Dnajc19 |
T |
C |
3: 34,112,128 (GRCm39) |
H139R |
probably benign |
Het |
| Dppa5a |
T |
A |
9: 78,275,071 (GRCm39) |
N77I |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,614,764 (GRCm39) |
S125P |
probably damaging |
Het |
| Eid2 |
T |
C |
7: 27,968,014 (GRCm39) |
I212T |
possibly damaging |
Het |
| Fam234b |
T |
A |
6: 135,186,328 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
C |
3: 53,562,017 (GRCm39) |
E830G |
probably benign |
Het |
| Fyb1 |
A |
T |
15: 6,681,947 (GRCm39) |
I765L |
probably benign |
Het |
| Fyn |
T |
G |
10: 39,398,775 (GRCm39) |
S124A |
probably benign |
Het |
| Gal3st3 |
T |
A |
19: 5,356,939 (GRCm39) |
F105I |
probably damaging |
Het |
| Gpr146 |
A |
G |
5: 139,379,177 (GRCm39) |
I326M |
probably benign |
Het |
| Grk2 |
G |
A |
19: 4,337,437 (GRCm39) |
R617C |
possibly damaging |
Het |
| Gsn |
A |
G |
2: 35,196,598 (GRCm39) |
K669R |
probably benign |
Het |
| H2-T10 |
A |
T |
17: 36,430,266 (GRCm39) |
I225N |
possibly damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,286,127 (GRCm39) |
H106R |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,215,638 (GRCm39) |
E41G |
probably damaging |
Het |
| Kcnma1 |
G |
T |
14: 23,361,792 (GRCm39) |
T1006K |
probably damaging |
Het |
| Kif18b |
G |
A |
11: 102,805,525 (GRCm39) |
T244I |
probably damaging |
Het |
| Klb |
A |
T |
5: 65,506,338 (GRCm39) |
H195L |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,704,727 (GRCm39) |
F252L |
probably benign |
Het |
| Lum |
C |
T |
10: 97,404,252 (GRCm39) |
T49I |
possibly damaging |
Het |
| Map3k4 |
T |
A |
17: 12,475,681 (GRCm39) |
L84* |
probably null |
Het |
| Mindy2 |
A |
G |
9: 70,514,738 (GRCm39) |
|
probably null |
Het |
| Mpped2 |
G |
T |
2: 106,614,077 (GRCm39) |
R137L |
possibly damaging |
Het |
| Myo18b |
G |
A |
5: 112,905,425 (GRCm39) |
R2058W |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,808,703 (GRCm39) |
L65Q |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or4c108 |
A |
G |
2: 88,804,109 (GRCm39) |
I42T |
probably benign |
Het |
| Or4x6 |
A |
T |
2: 89,949,202 (GRCm39) |
L247M |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,380 (GRCm39) |
A96V |
possibly damaging |
Het |
| Or5g9 |
A |
G |
2: 85,551,917 (GRCm39) |
H56R |
probably damaging |
Het |
| Or8b3 |
T |
G |
9: 38,314,601 (GRCm39) |
C144G |
possibly damaging |
Het |
| Or9a4 |
C |
T |
6: 40,548,833 (GRCm39) |
S171L |
probably benign |
Het |
| Parp12 |
G |
T |
6: 39,079,495 (GRCm39) |
D338E |
probably benign |
Het |
| Pde6d |
T |
C |
1: 86,474,414 (GRCm39) |
E77G |
probably damaging |
Het |
| Phkg1 |
A |
C |
5: 129,902,055 (GRCm39) |
|
probably null |
Het |
| Pigw |
A |
C |
11: 84,769,186 (GRCm39) |
S48A |
probably benign |
Het |
| Pkm |
T |
A |
9: 59,576,193 (GRCm39) |
|
probably null |
Het |
| Ppp1r3f |
G |
A |
X: 7,426,602 (GRCm39) |
T553M |
probably damaging |
Het |
| Retreg2 |
T |
A |
1: 75,120,103 (GRCm39) |
F44L |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,753,035 (GRCm39) |
M1762K |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,313,579 (GRCm39) |
V1927A |
probably benign |
Het |
| Sec23a |
G |
T |
12: 59,025,345 (GRCm39) |
A492E |
probably damaging |
Het |
| Skint4 |
T |
A |
4: 111,975,311 (GRCm39) |
H82Q |
probably benign |
Het |
| Srbd1 |
T |
C |
17: 86,446,580 (GRCm39) |
K60E |
probably benign |
Het |
| Stk24 |
A |
G |
14: 121,545,456 (GRCm39) |
Y101H |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,726,396 (GRCm39) |
N239K |
probably damaging |
Het |
| Tgs1 |
C |
T |
4: 3,604,848 (GRCm39) |
P757S |
probably damaging |
Het |
| Tmc2 |
A |
T |
2: 130,090,650 (GRCm39) |
E665D |
probably damaging |
Het |
| Tmprss15 |
C |
A |
16: 78,875,846 (GRCm39) |
D163Y |
probably benign |
Het |
| Unc13a |
C |
A |
8: 72,101,625 (GRCm39) |
V1009L |
possibly damaging |
Het |
| Unc45b |
G |
T |
11: 82,819,496 (GRCm39) |
G490C |
probably damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,765 (GRCm39) |
H37L |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,645,264 (GRCm39) |
M450V |
possibly damaging |
Het |
| Wars2 |
T |
C |
3: 99,094,843 (GRCm39) |
I46T |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 101,999,176 (GRCm39) |
T3098K |
possibly damaging |
Het |
| Zan |
A |
T |
5: 137,387,622 (GRCm39) |
I4863N |
unknown |
Het |
| Zfp616 |
A |
G |
11: 73,974,064 (GRCm39) |
|
probably null |
Het |
| Zfp770 |
A |
T |
2: 114,027,514 (GRCm39) |
I185N |
probably damaging |
Het |
| Zfp808 |
T |
G |
13: 62,320,821 (GRCm39) |
H683Q |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,776,275 (GRCm39) |
W1221R |
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 |
|
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'- ACACCGCTTTGTCGCTTTACCAT -3'
(R):5'- TTGGCATTGTCTAAAGCTGACACCTT -3'
Sequencing Primer
(F):5'- CATGGCATGTAAATGGCAGG -3'
(R):5'- tcactgctctttcagaggac -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation