Incidental Mutation 'R0226:Aasdh'
| ID |
33914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| MMRRC Submission |
038471-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R0226 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
77021506-77053361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77049849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 49
(L49Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120963]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000135954]
[ENSMUST00000146570]
[ENSMUST00000142450]
|
| AlphaFold |
Q80WC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069709
AA Change: L49Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: L49Q
| 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: L49Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: L49Q
| 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: L49Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923
AA Change: L49Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
231 |
1.7e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126741
AA Change: L49Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: L49Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
403 |
7.5e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135697
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135954
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146570
AA Change: L49Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: L49Q
| 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: ENSMUST00000136080
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142450
|
| Meta Mutation Damage Score |
0.7101 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
| Validation Efficiency |
100% (98/98) |
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
T |
14: 59,379,569 (GRCm39) |
T54K |
possibly damaging |
Het |
| 2210408I21Rik |
A |
T |
13: 77,451,544 (GRCm39) |
E876V |
possibly damaging |
Het |
| Abca8b |
T |
C |
11: 109,847,844 (GRCm39) |
|
probably null |
Het |
| Ablim1 |
A |
T |
19: 57,032,302 (GRCm39) |
L556Q |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,119,408 (GRCm39) |
T1700A |
probably benign |
Het |
| Agl |
G |
A |
3: 116,545,720 (GRCm39) |
R1359C |
probably damaging |
Het |
| Agpat3 |
T |
A |
10: 78,113,863 (GRCm39) |
H275L |
possibly damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,577,586 (GRCm39) |
C180* |
probably null |
Het |
| Aim2 |
A |
G |
1: 173,289,899 (GRCm39) |
|
probably benign |
Het |
| Angpt1 |
T |
C |
15: 42,331,631 (GRCm39) |
N320S |
probably benign |
Het |
| Ankrd52 |
T |
A |
10: 128,225,727 (GRCm39) |
|
probably null |
Het |
| Ap1g1 |
C |
T |
8: 110,581,694 (GRCm39) |
S654L |
probably benign |
Het |
| Bpifa1 |
T |
A |
2: 153,987,977 (GRCm39) |
S173R |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,736,947 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,670 (GRCm39) |
T161A |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,271,965 (GRCm39) |
Y228C |
probably damaging |
Het |
| Ccdc149 |
A |
G |
5: 52,557,559 (GRCm39) |
L273P |
probably damaging |
Het |
| Cit |
G |
A |
5: 116,122,899 (GRCm39) |
R1405Q |
probably damaging |
Het |
| Cox17 |
T |
C |
16: 38,169,638 (GRCm39) |
L48P |
probably damaging |
Het |
| Cttn |
A |
G |
7: 143,995,589 (GRCm39) |
|
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,743,619 (GRCm39) |
|
probably benign |
Het |
| Dtnbp1 |
A |
G |
13: 45,076,669 (GRCm39) |
L175P |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,342,219 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
T |
2: 125,162,830 (GRCm39) |
R2152Q |
possibly damaging |
Het |
| Fignl1 |
A |
T |
11: 11,751,061 (GRCm39) |
S665T |
probably benign |
Het |
| Gm9843 |
A |
T |
16: 76,200,449 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr155 |
C |
T |
2: 73,197,936 (GRCm39) |
V395I |
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,522,076 (GRCm39) |
|
probably benign |
Het |
| Hdgfl1 |
A |
T |
13: 26,953,979 (GRCm39) |
H31Q |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,425,443 (GRCm39) |
S628P |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,005,456 (GRCm39) |
T685A |
probably benign |
Het |
| Hmgcl |
T |
G |
4: 135,686,039 (GRCm39) |
V168G |
probably damaging |
Het |
| Itch |
T |
C |
2: 155,041,314 (GRCm39) |
I454T |
probably benign |
Het |
| Itih2 |
T |
C |
2: 10,120,110 (GRCm39) |
D309G |
possibly damaging |
Het |
| Kcmf1 |
T |
C |
6: 72,819,935 (GRCm39) |
I304V |
probably benign |
Het |
| Kcnh1 |
G |
A |
1: 191,959,112 (GRCm39) |
W222* |
probably null |
Het |
| Kcnh1 |
G |
T |
1: 191,959,113 (GRCm39) |
W222C |
probably damaging |
Het |
| Kif24 |
T |
A |
4: 41,414,939 (GRCm39) |
K287* |
probably null |
Het |
| Lrig3 |
A |
G |
10: 125,807,986 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,367,907 (GRCm39) |
C202S |
probably null |
Het |
| Lrrc37 |
A |
T |
11: 103,494,067 (GRCm39) |
F663L |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,865,558 (GRCm39) |
N208D |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,852,880 (GRCm39) |
T664I |
possibly damaging |
Het |
| Mfsd10 |
A |
G |
5: 34,791,790 (GRCm39) |
L365S |
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,697,849 (GRCm39) |
|
probably benign |
Het |
| Mgat4e |
A |
G |
1: 134,468,841 (GRCm39) |
V401A |
probably benign |
Het |
| Mllt3 |
C |
A |
4: 87,758,969 (GRCm39) |
V360L |
probably benign |
Het |
| Mrm1 |
G |
A |
11: 84,709,996 (GRCm39) |
A68V |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,788,558 (GRCm39) |
|
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,047,510 (GRCm39) |
T311A |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,875,251 (GRCm39) |
F1552L |
probably benign |
Het |
| Myo7b |
C |
T |
18: 32,105,949 (GRCm39) |
V1353I |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,806,476 (GRCm39) |
S1512P |
probably damaging |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Osbpl3 |
A |
G |
6: 50,329,988 (GRCm39) |
W63R |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,685,641 (GRCm39) |
S703P |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,815,237 (GRCm39) |
I1231T |
probably damaging |
Het |
| Pex16 |
A |
C |
2: 92,206,032 (GRCm39) |
|
probably benign |
Het |
| Pfkl |
T |
C |
10: 77,828,368 (GRCm39) |
N399S |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,390,180 (GRCm39) |
R1432K |
possibly damaging |
Het |
| Prdm1 |
T |
A |
10: 44,332,692 (GRCm39) |
T106S |
probably benign |
Het |
| Prrc1 |
A |
G |
18: 57,496,363 (GRCm39) |
M105V |
probably benign |
Het |
| Psg26 |
A |
G |
7: 18,217,883 (GRCm39) |
C12R |
possibly damaging |
Het |
| Rnf43 |
A |
T |
11: 87,622,263 (GRCm39) |
S455C |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,787,442 (GRCm39) |
K977R |
probably damaging |
Het |
| Sart1 |
C |
T |
19: 5,431,150 (GRCm39) |
|
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,998,167 (GRCm39) |
S509G |
probably benign |
Het |
| Sin3b |
A |
T |
8: 73,471,136 (GRCm39) |
E361V |
probably benign |
Het |
| Slc35e3 |
C |
T |
10: 117,576,795 (GRCm39) |
E179K |
possibly damaging |
Het |
| Sntb2 |
T |
C |
8: 107,728,215 (GRCm39) |
S388P |
probably damaging |
Het |
| Srms |
A |
G |
2: 180,854,175 (GRCm39) |
S131P |
probably benign |
Het |
| Sting1 |
A |
T |
18: 35,872,141 (GRCm39) |
F120L |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,742,442 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
T |
C |
10: 23,816,961 (GRCm39) |
V167A |
probably damaging |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,321,899 (GRCm39) |
Y1516H |
possibly damaging |
Het |
| Tlk1 |
T |
A |
2: 70,544,513 (GRCm39) |
|
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,878,495 (GRCm39) |
K771R |
probably damaging |
Het |
| Treml1 |
C |
T |
17: 48,667,486 (GRCm39) |
L124F |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,611,141 (GRCm39) |
Q9137K |
possibly damaging |
Het |
| Unkl |
T |
A |
17: 25,449,685 (GRCm39) |
I469N |
probably damaging |
Het |
| Vmn1r173 |
G |
T |
7: 23,402,508 (GRCm39) |
V248L |
possibly damaging |
Het |
| Vps35 |
T |
C |
8: 86,000,204 (GRCm39) |
Q474R |
probably damaging |
Het |
| Wdr17 |
T |
A |
8: 55,116,043 (GRCm39) |
T580S |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,998,583 (GRCm39) |
K222E |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,096,511 (GRCm39) |
T1446A |
probably benign |
Het |
| Zfp277 |
A |
G |
12: 40,414,161 (GRCm39) |
L228S |
possibly damaging |
Het |
| Zfp941 |
T |
A |
7: 140,393,188 (GRCm39) |
K57M |
probably damaging |
Het |
| Zmpste24 |
A |
T |
4: 120,938,406 (GRCm39) |
S244R |
probably benign |
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 |
|
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 |
|
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'- CTGGAATGACAGCTCAATGGTTTGTTTG -3'
(R):5'- CCTGACAACTCCCCTAACGTTTGAC -3'
Sequencing Primer
(F):5'- ACTTTTAGTCTGTCCTTAATAAGCTC -3'
(R):5'- GTGTAGATTTCTCAGCCACCAATG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation