Incidental Mutation 'R3747:Aasdh'
| ID |
309852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| Accession Numbers |
Genbank: NM_173765.3; Ensembl: ENSMUST00000120963
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R3747 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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 |
|
| 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 |
|---|
| Abhd18 |
A |
G |
3: 40,933,573 (GRCm38) |
N284S |
probably benign |
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 |
| Aga |
T |
A |
8: 53,517,821 (GRCm38) |
I192N |
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,461,044 (GRCm38) |
I125T |
probably benign |
Het |
| Alk |
A |
G |
17: 71,911,565 (GRCm38) |
S762P |
probably damaging |
Het |
| Bckdk |
C |
A |
7: 127,905,418 (GRCm38) |
R105S |
probably damaging |
Het |
| Cby3 |
T |
C |
11: 50,359,674 (GRCm38) |
*236R |
probably null |
Het |
| Cfhr1 |
C |
A |
1: 139,557,634 (GRCm38) |
|
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,299,915 (GRCm38) |
Y393N |
probably damaging |
Het |
| Cx3cr1 |
T |
C |
9: 120,052,066 (GRCm38) |
H90R |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,442,071 (GRCm38) |
K380M |
probably damaging |
Het |
| Cyp4v3 |
G |
A |
8: 45,315,708 (GRCm38) |
R272* |
probably null |
Het |
| Dazap1 |
C |
T |
10: 80,287,664 (GRCm38) |
R391C |
possibly damaging |
Het |
| Dgkh |
T |
A |
14: 78,584,445 (GRCm38) |
E876V |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,784,174 (GRCm38) |
K3616* |
probably null |
Het |
| E2f1 |
C |
G |
2: 154,564,022 (GRCm38) |
G144R |
probably damaging |
Het |
| Fam221a |
A |
G |
6: 49,372,696 (GRCm38) |
D2G |
probably damaging |
Het |
| Fam43a |
C |
T |
16: 30,601,846 (GRCm38) |
T416I |
probably benign |
Het |
| Fam71a |
T |
G |
1: 191,164,010 (GRCm38) |
Q145H |
probably damaging |
Het |
| Fam90a1a |
C |
A |
8: 21,963,205 (GRCm38) |
S192* |
probably null |
Het |
| Foxd1 |
G |
C |
13: 98,355,916 (GRCm38) |
A433P |
unknown |
Het |
| Gm10152 |
G |
A |
7: 144,763,200 (GRCm38) |
|
probably null |
Het |
| Gm12800 |
T |
A |
4: 101,909,876 (GRCm38) |
D107E |
possibly damaging |
Het |
| Hipk3 |
T |
A |
2: 104,441,283 (GRCm38) |
R435* |
probably null |
Het |
| Hnrnpab |
T |
A |
11: 51,602,646 (GRCm38) |
Y245F |
probably benign |
Het |
| Islr2 |
A |
T |
9: 58,199,642 (GRCm38) |
S112T |
probably benign |
Het |
| Itgb7 |
A |
T |
15: 102,222,777 (GRCm38) |
V280D |
probably damaging |
Het |
| Kndc1 |
G |
A |
7: 139,927,904 (GRCm38) |
|
probably null |
Het |
| Lrba |
T |
G |
3: 86,375,953 (GRCm38) |
L1858R |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,952,246 (GRCm38) |
W1513* |
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,195,023 (GRCm38) |
D51G |
probably damaging |
Het |
| Ncoa6 |
G |
A |
2: 155,411,641 (GRCm38) |
P939L |
probably benign |
Het |
| Ndst3 |
A |
G |
3: 123,671,552 (GRCm38) |
I257T |
probably benign |
Het |
| Nolc1 |
CAG |
CAGAAG |
19: 46,081,356 (GRCm38) |
|
probably benign |
Het |
| Nuf2 |
T |
A |
1: 169,525,376 (GRCm38) |
N20I |
probably damaging |
Het |
| Osbpl7 |
T |
C |
11: 97,056,053 (GRCm38) |
V223A |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,332,004 (GRCm38) |
I2064T |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,591,461 (GRCm38) |
R90G |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,821,077 (GRCm38) |
K219N |
probably damaging |
Het |
| Ppil4 |
A |
T |
10: 7,814,693 (GRCm38) |
Q370L |
probably benign |
Het |
| Primpol |
A |
T |
8: 46,599,813 (GRCm38) |
D154E |
probably benign |
Het |
| Rb1cc1 |
T |
G |
1: 6,248,742 (GRCm38) |
V778G |
possibly damaging |
Het |
| Sgms1 |
A |
T |
19: 32,159,594 (GRCm38) |
S191T |
possibly damaging |
Het |
| Sned1 |
T |
A |
1: 93,261,751 (GRCm38) |
F303Y |
probably damaging |
Het |
| Sp9 |
T |
A |
2: 73,274,308 (GRCm38) |
M402K |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 114,016,791 (GRCm38) |
V297E |
possibly damaging |
Het |
| Spon1 |
T |
C |
7: 113,766,384 (GRCm38) |
L19P |
probably damaging |
Het |
| Tlr5 |
T |
C |
1: 182,974,439 (GRCm38) |
I436T |
probably benign |
Het |
| Tmem63a |
G |
A |
1: 180,963,114 (GRCm38) |
D446N |
possibly damaging |
Het |
| Tpcn2 |
T |
C |
7: 145,255,523 (GRCm38) |
H682R |
probably damaging |
Het |
| Ugt1a6a |
T |
C |
1: 88,139,149 (GRCm38) |
Y226H |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,333,350 (GRCm38) |
N975K |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,810,292 (GRCm38) |
G3352S |
probably benign |
Het |
| Vmn1r39 |
T |
C |
6: 66,804,870 (GRCm38) |
N155D |
probably benign |
Het |
| Vwa5b2 |
A |
G |
16: 20,598,326 (GRCm38) |
|
probably benign |
Het |
| Yipf4 |
G |
A |
17: 74,496,672 (GRCm38) |
|
probably null |
Het |
| Zdhhc17 |
T |
C |
10: 110,944,420 (GRCm38) |
I624M |
probably benign |
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 |
|
|
R3748:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R3750: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'- GGCAAGAGTGTGCTTCCTAC -3'
(R):5'- CAACGCCAACATTGCTGAG -3'
Sequencing Primer
(F):5'- TACGCAAGGACATGACTTGTAC -3'
(R):5'- CGCCAACATTGCTGAGAAGATTTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation