Incidental Mutation 'R7703:Aasdh'
| ID |
594110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| MMRRC Submission |
045764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R7703 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
77021506-77053361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77035924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 387
(D387G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120963]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000146570]
|
| AlphaFold |
Q80WC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069709
AA Change: D387G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: D387G
| 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: D387G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: D387G
| 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 damaging
Transcript: ENSMUST00000126741
AA Change: D387G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: D387G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
403 |
7.5e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146570
AA Change: D387G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: D387G
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
C |
11: 58,316,593 (GRCm39) |
I191T |
probably damaging |
Het |
| 2310003L06Rik |
T |
C |
5: 88,120,671 (GRCm39) |
L476P |
possibly damaging |
Het |
| Ahsa2 |
T |
A |
11: 23,440,415 (GRCm39) |
T327S |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,553,678 (GRCm39) |
V523E |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,747,769 (GRCm39) |
R1298L |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,765,503 (GRCm39) |
T802A |
possibly damaging |
Het |
| Cdh23 |
G |
T |
10: 60,173,043 (GRCm39) |
T1714K |
probably damaging |
Het |
| Chrna3 |
A |
T |
9: 54,923,408 (GRCm39) |
D133E |
probably benign |
Het |
| Cnot1 |
C |
T |
8: 96,486,726 (GRCm39) |
|
probably null |
Het |
| Col16a1 |
A |
T |
4: 129,990,295 (GRCm39) |
N1396Y |
unknown |
Het |
| Cox11 |
A |
G |
11: 90,529,245 (GRCm39) |
N77S |
probably benign |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cytip |
A |
G |
2: 58,037,920 (GRCm39) |
V148A |
probably damaging |
Het |
| Diaph1 |
T |
C |
18: 38,023,862 (GRCm39) |
I659V |
unknown |
Het |
| Dmxl2 |
A |
T |
9: 54,368,370 (GRCm39) |
M26K |
probably benign |
Het |
| Erp44 |
T |
A |
4: 48,196,904 (GRCm39) |
I340F |
probably benign |
Het |
| Fam186a |
A |
G |
15: 99,852,678 (GRCm39) |
M180T |
unknown |
Het |
| Frem2 |
C |
T |
3: 53,429,589 (GRCm39) |
V2793I |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,266,539 (GRCm39) |
E1064G |
probably damaging |
Het |
| Gria4 |
T |
C |
9: 4,503,588 (GRCm39) |
I343V |
probably benign |
Het |
| Grsf1 |
T |
A |
5: 88,819,150 (GRCm39) |
N228Y |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Ighv1-18 |
A |
T |
12: 114,646,381 (GRCm39) |
N74K |
probably benign |
Het |
| Kcnh6 |
A |
T |
11: 105,914,703 (GRCm39) |
T703S |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,000,798 (GRCm39) |
D2256V |
|
Het |
| Lrrc63 |
T |
C |
14: 75,360,447 (GRCm39) |
T352A |
possibly damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,531,194 (GRCm39) |
E258G |
probably damaging |
Het |
| Mcph1 |
T |
C |
8: 18,721,122 (GRCm39) |
I650T |
possibly damaging |
Het |
| Mep1a |
T |
C |
17: 43,788,997 (GRCm39) |
D606G |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,516,578 (GRCm39) |
I313M |
|
Het |
| Myh7b |
A |
G |
2: 155,462,356 (GRCm39) |
Y353C |
probably null |
Het |
| Nfatc1 |
A |
G |
18: 80,725,504 (GRCm39) |
L420P |
probably damaging |
Het |
| Olfml1 |
A |
G |
7: 107,170,392 (GRCm39) |
E93G |
probably damaging |
Het |
| Or6b1 |
A |
T |
6: 42,814,938 (GRCm39) |
E41V |
probably damaging |
Het |
| Or8c11 |
A |
G |
9: 38,289,357 (GRCm39) |
H54R |
probably benign |
Het |
| Pax1 |
A |
T |
2: 147,208,034 (GRCm39) |
N214I |
probably damaging |
Het |
| Pcdhb17 |
C |
A |
18: 37,619,801 (GRCm39) |
H530Q |
probably benign |
Het |
| Pcdhgb7 |
A |
T |
18: 37,885,321 (GRCm39) |
M164L |
probably benign |
Het |
| Pcolce |
T |
C |
5: 137,603,474 (GRCm39) |
N453S |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,262,982 (GRCm39) |
T895A |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,480,007 (GRCm39) |
V1088I |
probably benign |
Het |
| Rab5a |
T |
A |
17: 53,807,485 (GRCm39) |
F174I |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,010,315 (GRCm39) |
D291G |
probably benign |
Het |
| Rbm25 |
A |
T |
12: 83,721,864 (GRCm39) |
K683N |
possibly damaging |
Het |
| Rbpj |
T |
C |
5: 53,803,240 (GRCm39) |
I156T |
probably damaging |
Het |
| Rgsl1 |
A |
G |
1: 153,669,610 (GRCm39) |
S259P |
possibly damaging |
Het |
| Ring1 |
T |
C |
17: 34,242,109 (GRCm39) |
D100G |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,690,110 (GRCm39) |
D1166E |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,443,539 (GRCm39) |
K1862E |
possibly damaging |
Het |
| Scamp5 |
A |
G |
9: 57,354,465 (GRCm39) |
I63T |
possibly damaging |
Het |
| Septin14 |
C |
T |
5: 129,763,092 (GRCm39) |
A334T |
possibly damaging |
Het |
| Sh3rf2 |
A |
T |
18: 42,289,201 (GRCm39) |
Q706L |
probably benign |
Het |
| Skap2 |
A |
T |
6: 51,884,934 (GRCm39) |
H242Q |
probably benign |
Het |
| Spmap2l |
T |
C |
5: 77,164,444 (GRCm39) |
I149T |
probably benign |
Het |
| Tfpt |
A |
G |
7: 3,623,744 (GRCm39) |
|
probably null |
Het |
| Thg1l |
T |
G |
11: 45,846,120 (GRCm39) |
D58A |
probably damaging |
Het |
| Thyn1 |
A |
G |
9: 26,918,143 (GRCm39) |
E177G |
probably benign |
Het |
| Tmem151b |
C |
T |
17: 45,856,724 (GRCm39) |
A239T |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,788,095 (GRCm39) |
V840A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,968,153 (GRCm39) |
V170E |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,864 (GRCm39) |
V674A |
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,263,513 (GRCm39) |
N781S |
probably damaging |
Het |
| Zbtb7c |
C |
A |
18: 76,270,433 (GRCm39) |
Q174K |
probably benign |
Het |
| Zeb1 |
T |
C |
18: 5,766,917 (GRCm39) |
I476T |
probably benign |
Het |
| Zfp91 |
A |
T |
19: 12,754,241 (GRCm39) |
D282E |
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 |
|
|
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 |
|
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'- TCCTTAGAATACTGCTGCTAGACATAG -3'
(R):5'- AGACTTGTTCCTCATGCAGTC -3'
Sequencing Primer
(F):5'- CTGCTGCTAGACATAGTTTTATCTAC -3'
(R):5'- CCTCATGCAGTCTTTGAATTGTACGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation