Incidental Mutation 'R1946:Aasdh'
ID |
216664 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aasdh
|
Ensembl Gene |
ENSMUSG00000055923 |
Gene Name |
aminoadipate-semialdehyde dehydrogenase |
Synonyms |
A230062G08Rik |
MMRRC Submission |
039964-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R1946 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
77021506-77053361 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77039551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 253
(S253P)
|
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: S253P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000069279 Gene: ENSMUSG00000055923 AA Change: S253P
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: S253P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113792 Gene: ENSMUSG00000055923 AA Change: S253P
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: S253P
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118854 Gene: ENSMUSG00000055923 AA Change: S253P
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
7 |
403 |
7.5e-51 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135697
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136080
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146570
AA Change: S253P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117639 Gene: ENSMUSG00000055923 AA Change: S253P
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154548
|
Meta Mutation Damage Score |
0.5924 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts5 |
C |
A |
16: 85,696,131 (GRCm39) |
C342F |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,522,368 (GRCm39) |
C5923Y |
probably damaging |
Het |
Aen |
G |
C |
7: 78,552,420 (GRCm39) |
E32Q |
probably damaging |
Het |
Apba2 |
T |
C |
7: 64,394,378 (GRCm39) |
|
probably null |
Het |
Arhgap44 |
A |
G |
11: 64,902,922 (GRCm39) |
M509T |
probably damaging |
Het |
Arpc1b |
A |
G |
5: 145,059,443 (GRCm39) |
T56A |
probably null |
Het |
Atoh1 |
T |
C |
6: 64,706,443 (GRCm39) |
V46A |
probably benign |
Het |
Bmpr2 |
T |
C |
1: 59,907,556 (GRCm39) |
V883A |
possibly damaging |
Het |
Bpifa1 |
A |
T |
2: 153,987,554 (GRCm39) |
I135F |
probably damaging |
Het |
Bsn |
A |
G |
9: 107,991,850 (GRCm39) |
F1301L |
probably damaging |
Het |
Capn13 |
T |
C |
17: 73,657,520 (GRCm39) |
E240G |
possibly damaging |
Het |
Ccdc18 |
A |
G |
5: 108,376,861 (GRCm39) |
E1434G |
probably damaging |
Het |
Coq8b |
G |
A |
7: 26,939,299 (GRCm39) |
V150I |
possibly damaging |
Het |
Cpn1 |
G |
A |
19: 43,944,957 (GRCm39) |
T450M |
probably benign |
Het |
Dlg4 |
A |
G |
11: 69,930,401 (GRCm39) |
Y432C |
probably damaging |
Het |
Dnah8 |
C |
A |
17: 30,931,359 (GRCm39) |
T1458K |
probably benign |
Het |
Dock5 |
A |
T |
14: 68,023,765 (GRCm39) |
M1132K |
probably damaging |
Het |
Dsg2 |
A |
G |
18: 20,713,605 (GRCm39) |
D192G |
probably damaging |
Het |
F930017D23Rik |
G |
A |
10: 43,469,440 (GRCm39) |
|
noncoding transcript |
Het |
Fndc11 |
A |
T |
2: 180,863,627 (GRCm39) |
D144V |
probably benign |
Het |
Fut2 |
A |
G |
7: 45,300,748 (GRCm39) |
F8S |
probably damaging |
Het |
Gad2 |
A |
T |
2: 22,575,440 (GRCm39) |
T515S |
probably benign |
Het |
Ganab |
T |
A |
19: 8,888,172 (GRCm39) |
D439E |
probably damaging |
Het |
Gm10228 |
C |
A |
16: 88,838,241 (GRCm39) |
G21V |
unknown |
Het |
Grm3 |
A |
G |
5: 9,562,123 (GRCm39) |
W576R |
probably damaging |
Het |
Gsdmc4 |
C |
A |
15: 63,774,629 (GRCm39) |
D51Y |
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,295,647 (GRCm39) |
S2619P |
probably damaging |
Het |
Kcnq2 |
T |
A |
2: 180,730,244 (GRCm39) |
D446V |
probably benign |
Het |
Kera |
A |
G |
10: 97,445,009 (GRCm39) |
K123E |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,520,152 (GRCm39) |
V1986E |
probably benign |
Het |
Lrp11 |
T |
C |
10: 7,499,540 (GRCm39) |
Y244H |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,555,159 (GRCm39) |
D320V |
unknown |
Het |
Lrrcc1 |
A |
G |
3: 14,615,453 (GRCm39) |
R394G |
probably benign |
Het |
Lrrk2 |
G |
A |
15: 91,620,864 (GRCm39) |
|
probably null |
Het |
Map4k5 |
A |
T |
12: 69,892,529 (GRCm39) |
D133E |
probably damaging |
Het |
Megf11 |
A |
T |
9: 64,586,558 (GRCm39) |
D461V |
probably damaging |
Het |
Msrb3 |
A |
G |
10: 120,687,913 (GRCm39) |
V54A |
probably damaging |
Het |
Muc21 |
A |
T |
17: 35,933,416 (GRCm39) |
|
probably benign |
Het |
Ncoa3 |
T |
A |
2: 165,901,097 (GRCm39) |
N896K |
possibly damaging |
Het |
Ncor2 |
G |
A |
5: 125,111,476 (GRCm39) |
T1314I |
probably damaging |
Het |
Nes |
A |
G |
3: 87,885,821 (GRCm39) |
Q1316R |
possibly damaging |
Het |
Nfe2l3 |
A |
C |
6: 51,434,295 (GRCm39) |
Q285P |
probably damaging |
Het |
Nkd1 |
C |
T |
8: 89,318,745 (GRCm39) |
H357Y |
probably damaging |
Het |
Nmt2 |
T |
A |
2: 3,323,672 (GRCm39) |
I355N |
probably benign |
Het |
Or10ak11 |
T |
C |
4: 118,687,223 (GRCm39) |
N139S |
probably benign |
Het |
Or1n1b |
A |
T |
2: 36,780,458 (GRCm39) |
M134K |
possibly damaging |
Het |
Or5ae1 |
T |
C |
7: 84,565,487 (GRCm39) |
S167P |
probably benign |
Het |
Or5b3 |
T |
C |
19: 13,388,143 (GRCm39) |
V70A |
possibly damaging |
Het |
Or7a38 |
T |
A |
10: 78,752,758 (GRCm39) |
I28N |
probably damaging |
Het |
Or8b3 |
T |
A |
9: 38,314,182 (GRCm39) |
M1K |
probably null |
Het |
Otx1 |
G |
T |
11: 21,948,482 (GRCm39) |
T46K |
probably damaging |
Het |
Panx1 |
A |
G |
9: 14,918,822 (GRCm39) |
C346R |
probably benign |
Het |
Pcdhb16 |
T |
A |
18: 37,611,952 (GRCm39) |
L304* |
probably null |
Het |
Plet1 |
A |
G |
9: 50,415,652 (GRCm39) |
|
probably null |
Het |
Plod2 |
A |
G |
9: 92,489,188 (GRCm39) |
S707G |
probably damaging |
Het |
Plscr4 |
G |
A |
9: 92,365,889 (GRCm39) |
V120I |
probably damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,820,008 (GRCm39) |
V245A |
probably damaging |
Het |
Ppp2r2d |
A |
G |
7: 138,470,196 (GRCm39) |
D19G |
probably damaging |
Het |
Pramel31 |
T |
A |
4: 144,088,435 (GRCm39) |
V77E |
probably benign |
Het |
Rimbp3 |
G |
A |
16: 17,028,291 (GRCm39) |
V572I |
probably benign |
Het |
Ror2 |
T |
C |
13: 53,285,885 (GRCm39) |
I110V |
probably damaging |
Het |
Sec24d |
A |
T |
3: 123,147,043 (GRCm39) |
H667L |
probably benign |
Het |
Sema3d |
A |
G |
5: 12,623,810 (GRCm39) |
Q573R |
probably damaging |
Het |
Snx19 |
T |
A |
9: 30,343,620 (GRCm39) |
N593K |
probably damaging |
Het |
Sulf1 |
T |
C |
1: 12,867,131 (GRCm39) |
V105A |
probably benign |
Het |
Syngr3 |
T |
C |
17: 24,906,680 (GRCm39) |
N45S |
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,385,015 (GRCm39) |
H524L |
probably damaging |
Het |
Tex30 |
C |
T |
1: 44,130,564 (GRCm39) |
G68D |
probably damaging |
Het |
Tmem43 |
A |
T |
6: 91,463,891 (GRCm39) |
I389F |
probably benign |
Het |
Trpm1 |
A |
T |
7: 63,873,556 (GRCm39) |
N488Y |
probably damaging |
Het |
Usf2 |
T |
C |
7: 30,655,663 (GRCm39) |
T1A |
probably null |
Het |
Vill |
A |
T |
9: 118,887,560 (GRCm39) |
H108L |
probably benign |
Het |
Vmn1r16 |
T |
C |
6: 57,299,885 (GRCm39) |
I246V |
probably benign |
Het |
Vmn1r188 |
T |
G |
13: 22,272,815 (GRCm39) |
S256R |
possibly damaging |
Het |
Zfp12 |
G |
A |
5: 143,231,133 (GRCm39) |
E487K |
probably damaging |
Het |
Zfp24 |
AC |
A |
18: 24,147,476 (GRCm39) |
|
probably null |
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 |
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'- TCACTAATGCACTGGGAGGAAC -3'
(R):5'- TCTCCATGATGGCACTGCTG -3'
Sequencing Primer
(F):5'- GAACTACTGAAGTATAAAGGACCCTC -3'
(R):5'- CTGAACCTGGGTCCTTTACAAGAG -3'
|
Posted On |
2014-08-01 |