Incidental Mutation 'R1469:Aasdh'
| ID |
164747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| MMRRC Submission |
039522-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R1469 (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 77039526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 261
(V261E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120963]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000146570]
|
| AlphaFold |
Q80WC9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069709
AA Change: V261E
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: V261E
| 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 |
possibly damaging
Transcript: ENSMUST00000120963
AA Change: V261E
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: V261E
| 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: V261E
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: V261E
| 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: V261E
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: V261E
| 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 |
0.7282 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 95.3%
- 10x: 69.3%
- 20x: 30.3%
|
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,981,720 (GRCm39) |
E1058G |
probably benign |
Het |
| Abcb5 |
T |
G |
12: 118,831,681 (GRCm39) |
I1224L |
possibly damaging |
Het |
| Actn4 |
A |
G |
7: 28,604,753 (GRCm39) |
V348A |
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,369,664 (GRCm39) |
L314H |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,504,460 (GRCm39) |
M402T |
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,263,180 (GRCm39) |
Q265R |
probably benign |
Het |
| Atp2b4 |
G |
A |
1: 133,634,677 (GRCm39) |
R1124C |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,312,351 (GRCm39) |
C353* |
probably null |
Het |
| Atp8b5 |
T |
A |
4: 43,291,733 (GRCm39) |
|
probably null |
Het |
| Baz1b |
T |
A |
5: 135,246,833 (GRCm39) |
Y761N |
probably damaging |
Het |
| Bend6 |
A |
G |
1: 33,903,824 (GRCm39) |
V38A |
probably benign |
Het |
| Camk1g |
T |
C |
1: 193,044,399 (GRCm39) |
E5G |
possibly damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,527,152 (GRCm39) |
H352Q |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,757,324 (GRCm39) |
V641A |
possibly damaging |
Het |
| Celsr2 |
C |
A |
3: 108,321,424 (GRCm39) |
D463Y |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,885,314 (GRCm39) |
Y434H |
probably damaging |
Het |
| Cnih2 |
T |
C |
19: 5,143,730 (GRCm39) |
Y142C |
probably damaging |
Het |
| Coa5 |
T |
A |
1: 37,459,681 (GRCm39) |
R71* |
probably null |
Het |
| Csmd3 |
A |
T |
15: 47,532,598 (GRCm39) |
Y2532* |
probably null |
Het |
| Cytl1 |
A |
T |
5: 37,892,991 (GRCm39) |
M34L |
probably benign |
Het |
| Dctn1 |
T |
A |
6: 83,169,871 (GRCm39) |
I590N |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,561,847 (GRCm39) |
H889R |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,490,275 (GRCm39) |
I1948T |
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,832,908 (GRCm39) |
N1034K |
probably benign |
Het |
| Dzip1l |
G |
A |
9: 99,541,829 (GRCm39) |
|
probably null |
Het |
| Eif4g1 |
T |
A |
16: 20,498,758 (GRCm39) |
V439E |
possibly damaging |
Het |
| Eml5 |
T |
C |
12: 98,825,082 (GRCm39) |
I712V |
probably benign |
Het |
| Entrep1 |
G |
A |
19: 23,950,970 (GRCm39) |
T537I |
probably benign |
Het |
| Epha3 |
C |
T |
16: 63,473,857 (GRCm39) |
G300D |
probably damaging |
Het |
| Erbb4 |
A |
C |
1: 68,599,841 (GRCm39) |
S79A |
probably damaging |
Het |
| Gclc |
T |
C |
9: 77,688,419 (GRCm39) |
V205A |
probably benign |
Het |
| Gdpd4 |
A |
G |
7: 97,623,673 (GRCm39) |
|
probably null |
Het |
| Gm11564 |
C |
T |
11: 99,706,058 (GRCm39) |
C124Y |
unknown |
Het |
| Gm16494 |
T |
C |
17: 47,327,770 (GRCm39) |
E38G |
probably damaging |
Het |
| Gtf2h1 |
T |
C |
7: 46,454,549 (GRCm39) |
|
probably null |
Het |
| Gtsf2 |
G |
T |
15: 103,349,644 (GRCm39) |
R68S |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,115,813 (GRCm39) |
Q881R |
probably damaging |
Het |
| Hmox1 |
C |
A |
8: 75,825,463 (GRCm39) |
L236I |
probably benign |
Het |
| Ighv8-12 |
T |
C |
12: 115,611,963 (GRCm39) |
I7V |
probably benign |
Het |
| Izumo1 |
T |
C |
7: 45,272,437 (GRCm39) |
S73P |
probably damaging |
Het |
| Kifbp |
A |
T |
10: 62,395,229 (GRCm39) |
F471Y |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,827 (GRCm39) |
N1176S |
possibly damaging |
Het |
| Mecom |
A |
T |
3: 30,034,197 (GRCm39) |
L493Q |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,650,016 (GRCm39) |
V1240A |
probably damaging |
Het |
| Mrpl3 |
T |
C |
9: 104,954,201 (GRCm39) |
S302P |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,425,956 (GRCm39) |
T2390A |
probably damaging |
Het |
| Myo1c |
T |
C |
11: 75,560,787 (GRCm39) |
S766P |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,743,680 (GRCm39) |
Q247R |
probably damaging |
Het |
| Nav3 |
G |
A |
10: 109,596,369 (GRCm39) |
T1423I |
probably damaging |
Het |
| Nefh |
A |
T |
11: 4,890,066 (GRCm39) |
I851N |
probably benign |
Het |
| Nup98 |
T |
C |
7: 101,788,008 (GRCm39) |
T1004A |
probably benign |
Het |
| Or1e17 |
T |
C |
11: 73,831,383 (GRCm39) |
F104L |
probably benign |
Het |
| Or1e22 |
G |
A |
11: 73,377,149 (GRCm39) |
S167L |
possibly damaging |
Het |
| Or5k8 |
G |
A |
16: 58,644,973 (GRCm39) |
T33I |
probably benign |
Het |
| Or5p76 |
T |
C |
7: 108,122,411 (GRCm39) |
T249A |
probably benign |
Het |
| Osgin1 |
G |
T |
8: 120,172,124 (GRCm39) |
R306L |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,537,571 (GRCm39) |
L1246P |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,952,019 (GRCm39) |
N273K |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,933,726 (GRCm39) |
M196K |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,373,585 (GRCm39) |
S1374P |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,400,282 (GRCm39) |
V2142A |
probably benign |
Het |
| Plb1 |
A |
G |
5: 32,512,170 (GRCm39) |
E1318G |
possibly damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,883,199 (GRCm39) |
I756V |
probably benign |
Het |
| Primpol |
A |
G |
8: 47,046,672 (GRCm39) |
V208A |
probably benign |
Het |
| Ptch2 |
C |
A |
4: 116,965,662 (GRCm39) |
A389E |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,489,319 (GRCm39) |
Y431H |
probably benign |
Het |
| Rnf43 |
G |
A |
11: 87,622,233 (GRCm39) |
G445R |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,362,727 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Shisa9 |
T |
A |
16: 11,802,935 (GRCm39) |
M164K |
probably damaging |
Het |
| Skint1 |
A |
G |
4: 111,882,708 (GRCm39) |
I251V |
probably benign |
Het |
| Slc16a14 |
C |
T |
1: 84,907,182 (GRCm39) |
D31N |
probably damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,022,361 (GRCm39) |
S548G |
possibly damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,664,154 (GRCm39) |
F316L |
probably benign |
Het |
| Smchd1 |
C |
T |
17: 71,656,725 (GRCm39) |
R1914H |
probably damaging |
Het |
| Snx16 |
C |
T |
3: 10,499,431 (GRCm39) |
D200N |
probably damaging |
Het |
| Spock3 |
A |
G |
8: 63,404,934 (GRCm39) |
D34G |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,467,916 (GRCm39) |
C4154R |
probably damaging |
Het |
| Sytl3 |
C |
T |
17: 6,954,723 (GRCm39) |
A131V |
probably benign |
Het |
| Tacc1 |
T |
A |
8: 25,672,271 (GRCm39) |
D319V |
probably benign |
Het |
| Tead1 |
A |
T |
7: 112,475,391 (GRCm39) |
K234I |
probably damaging |
Het |
| Tgfbrap1 |
C |
T |
1: 43,114,618 (GRCm39) |
V161I |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,884,017 (GRCm39) |
V121A |
probably damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,779,793 (GRCm39) |
T297A |
possibly damaging |
Het |
| Trappc11 |
G |
A |
8: 47,957,000 (GRCm39) |
L809F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,601,869 (GRCm39) |
I18598V |
probably benign |
Het |
| Ugt1a10 |
G |
A |
1: 88,143,976 (GRCm39) |
A199T |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,144,232 (GRCm39) |
N186D |
probably damaging |
Het |
| Uqcrfs1 |
C |
A |
13: 30,724,784 (GRCm39) |
G252V |
probably damaging |
Het |
| Vmn2r115 |
T |
C |
17: 23,564,992 (GRCm39) |
I293T |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,991,694 (GRCm39) |
T556A |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,997,529 (GRCm39) |
Y1029N |
probably benign |
Het |
| Zfp451 |
T |
A |
1: 33,808,894 (GRCm39) |
K989M |
possibly damaging |
Het |
| Zfpm1 |
C |
T |
8: 123,062,585 (GRCm39) |
T548M |
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 |
|
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 |
|
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'- TGCTAACACATCTGGTTCTGGGC -3'
(R):5'- TTGGGGTTCTTTCCATACCCAAGC -3'
Sequencing Primer
(F):5'- CACTATCACTAATGCACTGGGAGG -3'
(R):5'- GCTCTGTTTGCCTTTAGGTC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation