Incidental Mutation 'R3750:Aasdh'
| ID |
310139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| MMRRC Submission |
040735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R3750 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76873659-76905514 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 76888654 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 347
(E347*)
|
| 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
AA Change: E347*
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: E347*
| 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
AA Change: E347*
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: E347*
| 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 null
Transcript: ENSMUST00000126741
AA Change: E347*
|
| SMART Domains |
Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: E347*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
403 |
7.5e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135697
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146570
AA Change: E347*
|
| SMART Domains |
Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: E347*
| 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 |
noncoding transcript
Transcript: ENSMUST00000201283
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (38/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310035C23Rik |
C |
T |
1: 105,753,577 (GRCm38) |
T1178I |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 134,172,865 (GRCm38) |
D5G |
probably damaging |
Het |
| Adam26b |
A |
C |
8: 43,521,197 (GRCm38) |
V256G |
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,461,044 (GRCm38) |
I125T |
probably benign |
Het |
| Bckdk |
C |
A |
7: 127,905,418 (GRCm38) |
R105S |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,615,455 (GRCm38) |
N319K |
possibly damaging |
Het |
| Clcn6 |
G |
T |
4: 148,024,187 (GRCm38) |
C128* |
probably null |
Het |
| Col6a4 |
C |
A |
9: 106,020,665 (GRCm38) |
|
probably null |
Het |
| Cyp4v3 |
G |
A |
8: 45,315,708 (GRCm38) |
R272* |
probably null |
Het |
| Dlg5 |
G |
A |
14: 24,165,260 (GRCm38) |
A665V |
probably damaging |
Het |
| Foxd1 |
G |
C |
13: 98,355,916 (GRCm38) |
A433P |
unknown |
Het |
| Gm12800 |
T |
A |
4: 101,909,876 (GRCm38) |
D107E |
possibly damaging |
Het |
| Hsd17b3 |
A |
T |
13: 64,063,179 (GRCm38) |
|
probably null |
Het |
| Kcnc4 |
A |
G |
3: 107,448,190 (GRCm38) |
V314A |
probably benign |
Het |
| Lrba |
T |
G |
3: 86,375,953 (GRCm38) |
L1858R |
probably damaging |
Het |
| Marcks |
G |
A |
10: 37,140,870 (GRCm38) |
|
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,952,246 (GRCm38) |
W1513* |
probably null |
Het |
| Nefh |
A |
G |
11: 4,939,937 (GRCm38) |
V894A |
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 58,973,336 (GRCm38) |
Y650* |
probably null |
Het |
| Plce1 |
A |
C |
19: 38,777,899 (GRCm38) |
I2109L |
probably benign |
Het |
| Primpol |
A |
T |
8: 46,599,813 (GRCm38) |
D154E |
probably benign |
Het |
| Rtca |
A |
T |
3: 116,493,001 (GRCm38) |
F327L |
probably benign |
Het |
| Scn2a |
T |
G |
2: 65,713,771 (GRCm38) |
V832G |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,740,737 (GRCm38) |
G933D |
possibly damaging |
Het |
| Skil |
A |
G |
3: 31,116,834 (GRCm38) |
N354S |
probably benign |
Het |
| Slk |
T |
G |
19: 47,619,809 (GRCm38) |
D400E |
possibly damaging |
Het |
| Spata31 |
G |
T |
13: 64,921,743 (GRCm38) |
L568F |
probably benign |
Het |
| Spon1 |
T |
C |
7: 113,766,384 (GRCm38) |
L19P |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 114,016,791 (GRCm38) |
V297E |
possibly damaging |
Het |
| Tas2r136 |
A |
T |
6: 132,777,237 (GRCm38) |
F309Y |
probably damaging |
Het |
| Tcp11l1 |
A |
G |
2: 104,698,542 (GRCm38) |
I137T |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,754,006 (GRCm38) |
H22253Y |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,333,350 (GRCm38) |
N975K |
possibly damaging |
Het |
| Usp1 |
C |
T |
4: 98,934,120 (GRCm38) |
|
probably null |
Het |
| Zfhx4 |
G |
A |
3: 5,243,165 (GRCm38) |
E484K |
possibly damaging |
Het |
| Zswim4 |
G |
A |
8: 84,212,047 (GRCm38) |
P1069S |
possibly damaging |
Het |
|
| Other mutations in Aasdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Aasdh
|
APN |
5 |
76,878,534 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01013:Aasdh
|
APN |
5 |
76,886,206 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL01558:Aasdh
|
APN |
5 |
76,888,617 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02544:Aasdh
|
APN |
5 |
76,902,114 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL02614:Aasdh
|
APN |
5 |
76,896,368 (GRCm38) |
splice site |
probably benign |
|
|
IGL02678:Aasdh
|
APN |
5 |
76,888,020 (GRCm38) |
splice site |
probably benign |
|
|
IGL02739:Aasdh
|
APN |
5 |
76,878,517 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL02947:Aasdh
|
APN |
5 |
76,902,110 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03116:Aasdh
|
APN |
5 |
76,902,089 (GRCm38) |
splice site |
probably null |
|
|
IGL03398:Aasdh
|
APN |
5 |
76,891,719 (GRCm38) |
missense |
probably benign |
0.02 |
|
1mM(1):Aasdh
|
UTSW |
5 |
76,896,617 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0183:Aasdh
|
UTSW |
5 |
76,886,235 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0226:Aasdh
|
UTSW |
5 |
76,902,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0367:Aasdh
|
UTSW |
5 |
76,902,114 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0386:Aasdh
|
UTSW |
5 |
76,896,461 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0529:Aasdh
|
UTSW |
5 |
76,876,267 (GRCm38) |
nonsense |
probably null |
|
|
R0881:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0882:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1033:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1034:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1035:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1036:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1366:Aasdh
|
UTSW |
5 |
76,888,804 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1446:Aasdh
|
UTSW |
5 |
76,886,289 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1449:Aasdh
|
UTSW |
5 |
76,886,289 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1469:Aasdh
|
UTSW |
5 |
76,891,679 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1469:Aasdh
|
UTSW |
5 |
76,891,679 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1583:Aasdh
|
UTSW |
5 |
76,882,681 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1641:Aasdh
|
UTSW |
5 |
76,891,779 (GRCm38) |
missense |
probably benign |
0.36 |
|
R1876:Aasdh
|
UTSW |
5 |
76,877,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1895:Aasdh
|
UTSW |
5 |
76,891,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1946:Aasdh
|
UTSW |
5 |
76,891,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3615:Aasdh
|
UTSW |
5 |
76,888,782 (GRCm38) |
missense |
probably benign |
0.20 |
|
R3616:Aasdh
|
UTSW |
5 |
76,888,782 (GRCm38) |
missense |
probably benign |
0.20 |
|
R3746:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R3747:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R3748:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R3836:Aasdh
|
UTSW |
5 |
76,878,468 (GRCm38) |
missense |
probably benign |
0.32 |
|
R4857:Aasdh
|
UTSW |
5 |
76,887,284 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4928:Aasdh
|
UTSW |
5 |
76,896,688 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R4937:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R5762:Aasdh
|
UTSW |
5 |
76,896,598 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5866:Aasdh
|
UTSW |
5 |
76,876,211 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5940:Aasdh
|
UTSW |
5 |
76,882,898 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6253:Aasdh
|
UTSW |
5 |
76,886,258 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R6542:Aasdh
|
UTSW |
5 |
76,883,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6825:Aasdh
|
UTSW |
5 |
76,888,849 (GRCm38) |
splice site |
probably null |
|
|
R6868:Aasdh
|
UTSW |
5 |
76,891,680 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6876:Aasdh
|
UTSW |
5 |
76,896,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6961:Aasdh
|
UTSW |
5 |
76,876,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6963:Aasdh
|
UTSW |
5 |
76,896,456 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7069:Aasdh
|
UTSW |
5 |
76,876,356 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7220:Aasdh
|
UTSW |
5 |
76,901,925 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7545:Aasdh
|
UTSW |
5 |
76,880,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7673:Aasdh
|
UTSW |
5 |
76,882,708 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7703:Aasdh
|
UTSW |
5 |
76,888,077 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7890:Aasdh
|
UTSW |
5 |
76,884,122 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7978:Aasdh
|
UTSW |
5 |
76,888,668 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8046:Aasdh
|
UTSW |
5 |
76,896,478 (GRCm38) |
missense |
probably benign |
|
|
R8152:Aasdh
|
UTSW |
5 |
76,896,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8425:Aasdh
|
UTSW |
5 |
76,886,277 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R8884:Aasdh
|
UTSW |
5 |
76,891,794 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9028:Aasdh
|
UTSW |
5 |
76,876,130 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9361:Aasdh
|
UTSW |
5 |
76,882,378 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9519:Aasdh
|
UTSW |
5 |
76,882,725 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1088:Aasdh
|
UTSW |
5 |
76,901,157 (GRCm38) |
splice site |
probably null |
|
|
Z1176:Aasdh
|
UTSW |
5 |
76,891,796 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGAGTGTGCTTCCTACGC -3'
(R):5'- CAACGCCAACATTGCTGAGAAG -3'
Sequencing Primer
(F):5'- TACGCAAGGACATGACTTGTAC -3'
(R):5'- GATTTGGATCTGAGCTCATCAAGTCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation