Incidental Mutation 'R5762:Aasdh'
| ID |
446042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R5762 (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 T
at 77044445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 148
(D148E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120963]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000146570]
|
| AlphaFold |
Q80WC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069709
AA Change: D148E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: D148E
| 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: D148E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: D148E
| 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: D148E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923
AA Change: D148E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
231 |
1.7e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126741
AA Change: D148E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: D148E
| 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 benign
Transcript: ENSMUST00000146570
AA Change: D148E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: D148E
| 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: ENSMUST00000154548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201283
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,531,665 (GRCm39) |
I4631V |
probably damaging |
Het |
| Adamts16 |
A |
T |
13: 70,886,617 (GRCm39) |
W1058R |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,741,586 (GRCm39) |
I163V |
probably null |
Het |
| Ano1 |
T |
A |
7: 144,201,774 (GRCm39) |
Y338F |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,418,521 (GRCm39) |
D603G |
probably damaging |
Het |
| Bmp2k |
GGCCCGC |
GGC |
5: 97,235,050 (GRCm39) |
|
probably null |
Het |
| Brinp2 |
T |
C |
1: 158,074,156 (GRCm39) |
D655G |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,321 (GRCm39) |
S299P |
probably benign |
Het |
| Calhm1 |
T |
A |
19: 47,132,058 (GRCm39) |
|
probably null |
Het |
| Ccdc187 |
G |
A |
2: 26,166,104 (GRCm39) |
P775L |
possibly damaging |
Het |
| Cd27 |
A |
G |
6: 125,213,561 (GRCm39) |
F48S |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,844,947 (GRCm39) |
Y41H |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 9,748,394 (GRCm39) |
S701P |
possibly damaging |
Het |
| Ctbp2 |
G |
T |
7: 132,597,088 (GRCm39) |
A665D |
probably damaging |
Het |
| Ctsd |
C |
A |
7: 141,937,266 (GRCm39) |
G81C |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dpysl4 |
C |
T |
7: 138,671,853 (GRCm39) |
A67V |
probably benign |
Het |
| Dst |
C |
T |
1: 34,218,438 (GRCm39) |
T1626I |
probably damaging |
Het |
| Etfdh |
A |
C |
3: 79,523,261 (GRCm39) |
D217E |
probably null |
Het |
| Far1 |
T |
A |
7: 113,167,396 (GRCm39) |
Y494N |
probably damaging |
Het |
| Fndc1 |
G |
A |
17: 7,990,366 (GRCm39) |
T1110M |
unknown |
Het |
| Frmd4a |
G |
T |
2: 4,488,876 (GRCm39) |
D78Y |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,808,260 (GRCm39) |
M1526I |
probably benign |
Het |
| Ggn |
C |
T |
7: 28,871,777 (GRCm39) |
P399S |
probably damaging |
Het |
| H2ac6 |
C |
T |
13: 23,867,888 (GRCm39) |
G5S |
probably damaging |
Het |
| Hap1 |
A |
G |
11: 100,246,600 (GRCm39) |
W102R |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,846,938 (GRCm39) |
S3629R |
possibly damaging |
Het |
| Hyal4 |
A |
C |
6: 24,765,861 (GRCm39) |
Y405S |
possibly damaging |
Het |
| Ifi204 |
G |
A |
1: 173,580,325 (GRCm39) |
T395I |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,326,005 (GRCm39) |
E1147G |
probably damaging |
Het |
| Inpp5a |
T |
A |
7: 139,118,097 (GRCm39) |
I225N |
possibly damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,972,518 (GRCm39) |
K455R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,515,455 (GRCm39) |
D2796G |
probably benign |
Het |
| Ngp |
A |
T |
9: 110,251,401 (GRCm39) |
D143V |
probably benign |
Het |
| Nlrp5 |
T |
C |
7: 23,118,264 (GRCm39) |
C663R |
possibly damaging |
Het |
| Nup205 |
G |
T |
6: 35,204,615 (GRCm39) |
R1469L |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,207,483 (GRCm39) |
F1512I |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,397,542 (GRCm39) |
S594P |
probably damaging |
Het |
| Nxpe2 |
A |
C |
9: 48,230,875 (GRCm39) |
V498G |
probably benign |
Het |
| P3h4 |
G |
A |
11: 100,302,677 (GRCm39) |
R320C |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,063,455 (GRCm39) |
L2273P |
probably damaging |
Het |
| Ppp1r14b |
C |
T |
19: 6,953,951 (GRCm39) |
L100F |
probably damaging |
Het |
| Prlhr |
C |
T |
19: 60,455,506 (GRCm39) |
W353* |
probably null |
Het |
| Ralgps2 |
C |
T |
1: 156,660,234 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
C |
T |
19: 41,868,591 (GRCm39) |
G584D |
possibly damaging |
Het |
| Scamp3 |
T |
C |
3: 89,088,504 (GRCm39) |
F237L |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,464,507 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Shroom1 |
A |
T |
11: 53,354,818 (GRCm39) |
D246V |
probably benign |
Het |
| Snapc4 |
T |
A |
2: 26,268,618 (GRCm39) |
E14D |
probably damaging |
Het |
| Spag5 |
A |
T |
11: 78,194,972 (GRCm39) |
Q93L |
probably benign |
Het |
| Tcstv5 |
T |
A |
13: 120,411,501 (GRCm39) |
Q35L |
probably benign |
Het |
| Tle1 |
C |
T |
4: 72,038,372 (GRCm39) |
|
probably null |
Het |
| Ttll10 |
G |
A |
4: 156,119,438 (GRCm39) |
P683S |
possibly damaging |
Het |
| Unc13c |
A |
C |
9: 73,719,649 (GRCm39) |
D1006E |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,732,955 (GRCm39) |
K3101N |
possibly damaging |
Het |
| Vdac1 |
A |
G |
11: 52,278,280 (GRCm39) |
Y247C |
possibly damaging |
Het |
| Vmn2r1 |
G |
A |
3: 63,997,474 (GRCm39) |
V377I |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,352 (GRCm39) |
T552A |
probably damaging |
Het |
| Xrcc3 |
C |
T |
12: 111,771,044 (GRCm39) |
R295Q |
probably damaging |
Het |
| Zfp780b |
T |
C |
7: 27,664,243 (GRCm39) |
N104S |
probably benign |
Het |
| Zkscan17 |
A |
G |
11: 59,378,397 (GRCm39) |
V262A |
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 |
|
|
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'- TCTGACAATCTTCGGTGTCC -3'
(R):5'- TCGGTTAAGCCACATTCGTG -3'
Sequencing Primer
(F):5'- CCCGTGGTCCCTGAGGTATG -3'
(R):5'- CAGAAATTGGCCTGCATTGC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation