Incidental Mutation 'R7220:Aasdh'
| ID |
561726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| MMRRC Submission |
045292-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R7220 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
77021506-77053361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77049772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 75
(I75V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120963]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000135954]
[ENSMUST00000142450]
[ENSMUST00000146570]
|
| AlphaFold |
Q80WC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069709
AA Change: I75V
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: I75V
| 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: ENSMUST00000120963
AA Change: I75V
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: I75V
| 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
AA Change: I75V
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923
AA Change: I75V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
231 |
1.7e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126741
AA Change: I75V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: I75V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
403 |
7.5e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135954
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142450
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146570
AA Change: I75V
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: I75V
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (75/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,837,337 (GRCm39) |
H325Q |
probably damaging |
Het |
| Abca14 |
G |
A |
7: 119,826,667 (GRCm39) |
D438N |
possibly damaging |
Het |
| Abca8a |
T |
A |
11: 109,980,793 (GRCm39) |
I82F |
probably benign |
Het |
| Abca8b |
G |
T |
11: 109,872,543 (GRCm39) |
N19K |
probably damaging |
Het |
| Acan |
A |
G |
7: 78,757,896 (GRCm39) |
N506S |
|
Het |
| Alox12e |
C |
A |
11: 70,206,731 (GRCm39) |
R652L |
probably benign |
Het |
| Atad3a |
A |
G |
4: 155,838,498 (GRCm39) |
V173A |
probably benign |
Het |
| Atl3 |
A |
G |
19: 7,506,433 (GRCm39) |
K326R |
probably null |
Het |
| Atm |
G |
T |
9: 53,423,217 (GRCm39) |
C636* |
probably null |
Het |
| Atp2c2 |
G |
A |
8: 120,472,300 (GRCm39) |
M451I |
probably benign |
Het |
| Best1 |
A |
T |
19: 9,969,479 (GRCm39) |
M193K |
probably benign |
Het |
| Bmper |
G |
T |
9: 23,310,651 (GRCm39) |
G362C |
probably damaging |
Het |
| Brd4 |
T |
A |
17: 32,444,557 (GRCm39) |
Y139F |
unknown |
Het |
| Bzw2 |
A |
T |
12: 36,173,950 (GRCm39) |
I108N |
possibly damaging |
Het |
| Cbs |
C |
A |
17: 31,838,191 (GRCm39) |
V353L |
probably benign |
Het |
| Ceacam20 |
A |
G |
7: 19,701,678 (GRCm39) |
T22A |
probably damaging |
Het |
| Ckap2l |
C |
T |
2: 129,117,436 (GRCm39) |
E580K |
probably damaging |
Het |
| Ckmt1 |
T |
C |
2: 121,189,374 (GRCm39) |
L15P |
possibly damaging |
Het |
| Clec18a |
G |
T |
8: 111,808,204 (GRCm39) |
P66H |
probably benign |
Het |
| Cma1 |
G |
T |
14: 56,180,120 (GRCm39) |
T95K |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 48,320,994 (GRCm39) |
V272A |
probably damaging |
Het |
| Ctnna3 |
A |
T |
10: 64,670,368 (GRCm39) |
E632D |
probably benign |
Het |
| Ctsc |
T |
C |
7: 87,946,361 (GRCm39) |
L130P |
probably damaging |
Het |
| Frmpd2 |
A |
T |
14: 33,229,432 (GRCm39) |
R339S |
probably damaging |
Het |
| Frrs1 |
C |
A |
3: 116,674,425 (GRCm39) |
S69* |
probably null |
Het |
| Gcc2 |
A |
T |
10: 58,116,416 (GRCm39) |
E1108D |
probably benign |
Het |
| Gkn1 |
A |
T |
6: 87,326,135 (GRCm39) |
|
probably null |
Het |
| Gtf2a1 |
A |
T |
12: 91,534,498 (GRCm39) |
M252K |
probably benign |
Het |
| H2-Ob |
T |
C |
17: 34,460,234 (GRCm39) |
F115S |
probably damaging |
Het |
| Ighv1-53 |
T |
C |
12: 115,122,135 (GRCm39) |
N80S |
probably benign |
Het |
| Ighv1-67 |
T |
C |
12: 115,567,666 (GRCm39) |
K82R |
probably benign |
Het |
| Ints1 |
A |
T |
5: 139,747,828 (GRCm39) |
I1193N |
possibly damaging |
Het |
| Kmt2c |
A |
G |
5: 25,549,923 (GRCm39) |
F1353L |
probably damaging |
Het |
| Luc7l |
C |
T |
17: 26,472,219 (GRCm39) |
|
probably benign |
Het |
| Man1a |
A |
C |
10: 53,796,331 (GRCm39) |
S454A |
possibly damaging |
Het |
| Mars2 |
C |
A |
1: 55,277,222 (GRCm39) |
A275D |
probably damaging |
Het |
| Nrde2 |
A |
G |
12: 100,097,178 (GRCm39) |
V874A |
probably benign |
Het |
| Ociad1 |
A |
G |
5: 73,470,809 (GRCm39) |
T244A |
probably benign |
Het |
| Or10j2 |
A |
G |
1: 173,097,811 (GRCm39) |
Y23C |
possibly damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,589 (GRCm39) |
D170E |
possibly damaging |
Het |
| Or8c9 |
A |
T |
9: 38,241,046 (GRCm39) |
L51F |
probably damaging |
Het |
| Ovca2 |
A |
G |
11: 75,069,501 (GRCm39) |
C41R |
possibly damaging |
Het |
| Pacsin2 |
A |
T |
15: 83,269,260 (GRCm39) |
D11E |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,178,441 (GRCm39) |
S566N |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,135,297 (GRCm39) |
I1038M |
probably damaging |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,593,350 (GRCm39) |
T1588S |
possibly damaging |
Het |
| Ppig |
A |
G |
2: 69,580,320 (GRCm39) |
D618G |
unknown |
Het |
| Pramel17 |
A |
G |
4: 101,694,565 (GRCm39) |
F106S |
probably benign |
Het |
| Prorp |
G |
A |
12: 55,351,200 (GRCm39) |
V170M |
possibly damaging |
Het |
| Prss51 |
A |
T |
14: 64,333,444 (GRCm39) |
K18* |
probably null |
Het |
| Ptpra |
T |
A |
2: 130,386,417 (GRCm39) |
D622E |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,725,988 (GRCm39) |
F1431L |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,044,479 (GRCm39) |
I486V |
probably benign |
Het |
| Rnpc3 |
G |
A |
3: 113,422,004 (GRCm39) |
A77V |
probably benign |
Het |
| Rtl10 |
T |
A |
16: 18,320,026 (GRCm39) |
C85* |
probably null |
Het |
| Skint10 |
A |
G |
4: 112,586,170 (GRCm39) |
S149P |
probably benign |
Het |
| Slc17a8 |
A |
C |
10: 89,412,275 (GRCm39) |
V570G |
probably benign |
Het |
| Slc25a42 |
A |
T |
8: 70,642,148 (GRCm39) |
V98E |
probably damaging |
Het |
| Smco2 |
A |
G |
6: 146,760,363 (GRCm39) |
E73G |
probably benign |
Het |
| Ss18 |
T |
C |
18: 14,812,477 (GRCm39) |
Y38C |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,453,540 (GRCm39) |
C2909* |
probably null |
Het |
| Tbccd1 |
A |
G |
16: 22,652,747 (GRCm39) |
Y125H |
probably benign |
Het |
| Tdrd9 |
A |
G |
12: 111,980,888 (GRCm39) |
T446A |
probably damaging |
Het |
| Tecta |
G |
T |
9: 42,255,183 (GRCm39) |
Q1672K |
probably benign |
Het |
| Tek |
G |
C |
4: 94,692,541 (GRCm39) |
W216C |
probably damaging |
Het |
| Timm17a |
C |
T |
1: 135,241,313 (GRCm39) |
|
probably null |
Het |
| Tlr4 |
A |
T |
4: 66,758,188 (GRCm39) |
H327L |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,234,109 (GRCm39) |
I449T |
possibly damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,559 (GRCm39) |
N28S |
probably null |
Het |
| Vmn2r117 |
T |
A |
17: 23,696,177 (GRCm39) |
H410L |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,508,772 (GRCm39) |
E500G |
probably damaging |
Het |
| Wif1 |
A |
G |
10: 120,926,019 (GRCm39) |
N245S |
possibly 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 |
|
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 |
|
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'- TAACAAGTTCTGGAATGACAGCTC -3'
(R):5'- AGCTGTATGTTTTGACGAAGGC -3'
Sequencing Primer
(F):5'- TTCTGGAATGACAGCTCAATGG -3'
(R):5'- TGTTTTGACGAAGGCAATAACCAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation