Incidental Mutation 'R6876:Aasdh'
| ID |
536409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| MMRRC Submission |
044972-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R6876 (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 77044288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 201
(T201A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120963]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000146570]
|
| AlphaFold |
Q80WC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069709
AA Change: T201A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: T201A
| 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: T201A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: T201A
| 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: ENSMUST00000123682
AA Change: T201A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923
AA Change: T201A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
231 |
1.7e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126741
AA Change: T201A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: T201A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
403 |
7.5e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146570
AA Change: T201A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: T201A
| 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: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,302,667 (GRCm39) |
D2184V |
probably damaging |
Het |
| Abcf1 |
C |
T |
17: 36,270,136 (GRCm39) |
D641N |
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,303,273 (GRCm39) |
|
probably null |
Het |
| Aftph |
T |
C |
11: 20,659,744 (GRCm39) |
E693G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,991,484 (GRCm39) |
D4256G |
probably damaging |
Het |
| Arv1 |
A |
G |
8: 125,457,651 (GRCm39) |
K185R |
probably damaging |
Het |
| Ces4a |
T |
A |
8: 105,871,624 (GRCm39) |
V258D |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,814,506 (GRCm39) |
D502G |
unknown |
Het |
| Diaph1 |
A |
T |
18: 38,029,426 (GRCm39) |
H335Q |
unknown |
Het |
| Dtna |
G |
A |
18: 23,744,167 (GRCm39) |
V404I |
probably benign |
Het |
| Ephb1 |
T |
C |
9: 101,861,319 (GRCm39) |
D615G |
probably damaging |
Het |
| Gimap3 |
A |
T |
6: 48,742,855 (GRCm39) |
I25N |
probably damaging |
Het |
| Hao1 |
A |
G |
2: 134,343,069 (GRCm39) |
V274A |
probably benign |
Het |
| Hirip3 |
T |
C |
7: 126,463,321 (GRCm39) |
S426P |
probably damaging |
Het |
| Igkv4-69 |
T |
C |
6: 69,260,818 (GRCm39) |
D103G |
probably damaging |
Het |
| Kdm8 |
T |
C |
7: 125,051,830 (GRCm39) |
V141A |
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,498,261 (GRCm39) |
A553S |
probably benign |
Het |
| Mpl |
T |
A |
4: 118,314,317 (GRCm39) |
Y60F |
probably damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myo5a |
C |
A |
9: 75,067,772 (GRCm39) |
R609S |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,841,026 (GRCm39) |
H969L |
probably benign |
Het |
| Or1n2 |
T |
A |
2: 36,797,834 (GRCm39) |
I292N |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,098 (GRCm39) |
Q259E |
probably damaging |
Het |
| Or2y16 |
T |
C |
11: 49,335,068 (GRCm39) |
L130P |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
T |
A |
7: 30,205,925 (GRCm39) |
W207R |
probably damaging |
Het |
| Qng1 |
T |
C |
13: 58,532,910 (GRCm39) |
D20G |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,596,087 (GRCm39) |
K457E |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,859,791 (GRCm39) |
E551G |
possibly damaging |
Het |
| Soat2 |
T |
C |
15: 102,069,049 (GRCm39) |
F358S |
probably damaging |
Het |
| Tes3-ps |
A |
G |
13: 49,647,195 (GRCm39) |
K24E |
probably benign |
Het |
| Txndc16 |
A |
G |
14: 45,400,497 (GRCm39) |
F335L |
possibly damaging |
Het |
| Unc45b |
T |
C |
11: 82,813,738 (GRCm39) |
Y382H |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,087 (GRCm39) |
T100A |
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,450 (GRCm39) |
H369Q |
probably benign |
Het |
| Yy1 |
A |
G |
12: 108,772,518 (GRCm39) |
I265V |
probably benign |
Het |
| Zfp54 |
A |
T |
17: 21,654,239 (GRCm39) |
K244N |
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 |
|
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 |
|
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'- CAAACTGGCATCAAACTTGGTC -3'
(R):5'- GAGACAGTTCTGAACTATGACACAG -3'
Sequencing Primer
(F):5'- AACTGGCATCAAACTTGGTCTCTTTC -3'
(R):5'- TGACACAGTTTCCGTGGAAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation