Incidental Mutation 'R1033:Aasdh'
| ID |
95237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| MMRRC Submission |
039132-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R1033 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
76873659-76905514 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76876283 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 174
(T174M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120639]
[ENSMUST00000120963]
[ENSMUST00000121160]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000149602]
[ENSMUST00000163347]
|
| AlphaFold |
Q80WC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069709
AA Change: T1015M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: T1015M
| 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: ENSMUST00000120639
|
| SMART Domains |
Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
44 |
173 |
1.7e-45 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
947 |
1025 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1065 |
1122 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1268 |
1280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120963
AA Change: T1015M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: T1015M
| 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: ENSMUST00000121160
|
| SMART Domains |
Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
45 |
172 |
1.8e-41 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1271 |
1283 |
N/A |
INTRINSIC |
|
| 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 |
probably benign
Transcript: ENSMUST00000126741
|
| SMART Domains |
Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
| 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: ENSMUST00000145022
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149602
AA Change: T174M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117489
Gene: ENSMUSG00000055923
AA Change: T174M
| Domain | Start | End | E-Value | Type |
|---|
|
PQQ
|
21 |
53 |
4.37e-2 |
SMART |
|
PQQ
|
63 |
95 |
2.3e1 |
SMART |
|
Blast:PQQ
|
104 |
130 |
2e-6 |
BLAST |
|
PQQ
|
141 |
173 |
2.61e2 |
SMART |
|
low complexity region
|
191 |
200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163347
|
| SMART Domains |
Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
44 |
173 |
1.7e-45 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
947 |
1025 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1065 |
1122 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1268 |
1280 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.7%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931408C20Rik |
G |
A |
1: 26,682,385 (GRCm38) |
P1238L |
probably benign |
Het |
| Akap6 |
A |
C |
12: 53,069,222 (GRCm38) |
D1036A |
probably damaging |
Het |
| Alg6 |
T |
C |
4: 99,762,033 (GRCm38) |
S497P |
probably benign |
Het |
| Arhgap10 |
T |
A |
8: 77,257,347 (GRCm38) |
I700L |
possibly damaging |
Het |
| Atp11a |
A |
G |
8: 12,828,555 (GRCm38) |
Y377C |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,793,888 (GRCm38) |
|
probably null |
Het |
| Card14 |
T |
A |
11: 119,338,370 (GRCm38) |
V702D |
probably damaging |
Het |
| Ccdc17 |
C |
T |
4: 116,596,880 (GRCm38) |
R32* |
probably null |
Het |
| Cdh7 |
A |
T |
1: 110,085,053 (GRCm38) |
D372V |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,839,449 (GRCm38) |
I2870N |
probably benign |
Het |
| Cped1 |
G |
T |
6: 22,016,951 (GRCm38) |
V100F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,721,865 (GRCm38) |
|
probably null |
Het |
| Exoc4 |
G |
A |
6: 33,265,987 (GRCm38) |
G45D |
probably damaging |
Het |
| Fam110b |
A |
T |
4: 5,799,440 (GRCm38) |
N286I |
probably benign |
Het |
| Fbxo10 |
A |
T |
4: 45,062,236 (GRCm38) |
C97S |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 80,695,157 (GRCm38) |
H2062L |
probably benign |
Het |
| Frk |
T |
C |
10: 34,608,458 (GRCm38) |
C476R |
probably damaging |
Het |
| Gm10471 |
T |
C |
5: 26,089,127 (GRCm38) |
K18E |
probably benign |
Het |
| Gm10542 |
A |
G |
18: 44,204,601 (GRCm38) |
T49A |
probably benign |
Het |
| Gm128 |
A |
G |
3: 95,240,011 (GRCm38) |
V324A |
possibly damaging |
Het |
| Gpr141 |
C |
T |
13: 19,751,710 (GRCm38) |
M298I |
probably benign |
Het |
| Gxylt1 |
T |
C |
15: 93,245,077 (GRCm38) |
E369G |
probably benign |
Het |
| Hpse2 |
A |
G |
19: 42,913,199 (GRCm38) |
V368A |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,606,594 (GRCm38) |
S458T |
probably damaging |
Het |
| Itgb7 |
T |
A |
15: 102,223,554 (GRCm38) |
D198V |
probably damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,518,670 (GRCm38) |
V72A |
possibly damaging |
Het |
| Magel2 |
A |
G |
7: 62,380,050 (GRCm38) |
M901V |
unknown |
Het |
| Mgam |
A |
T |
6: 40,680,624 (GRCm38) |
Y971F |
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,659,460 (GRCm38) |
G42S |
probably damaging |
Het |
| Mpp6 |
T |
C |
6: 50,183,736 (GRCm38) |
Y326H |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,880,551 (GRCm38) |
D1078V |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,108,934 (GRCm38) |
R870H |
probably benign |
Het |
| Nek8 |
A |
T |
11: 78,171,285 (GRCm38) |
L71Q |
probably null |
Het |
| Nox4 |
T |
A |
7: 87,374,413 (GRCm38) |
D502E |
probably damaging |
Het |
| Nsmaf |
G |
A |
4: 6,438,054 (GRCm38) |
P73S |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,227,442 (GRCm38) |
A1421V |
probably benign |
Het |
| Nxpe4 |
T |
C |
9: 48,393,233 (GRCm38) |
F207L |
probably damaging |
Het |
| Olfr1043 |
A |
G |
2: 86,162,850 (GRCm38) |
I33T |
possibly damaging |
Het |
| Olfr1282 |
A |
T |
2: 111,335,802 (GRCm38) |
I92N |
probably damaging |
Het |
| Olfr410 |
A |
C |
11: 74,334,636 (GRCm38) |
N198K |
possibly damaging |
Het |
| Olfr59 |
A |
C |
11: 74,288,666 (GRCm38) |
T7P |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,767,951 (GRCm38) |
L2451P |
probably damaging |
Het |
| Rad51ap2 |
C |
T |
12: 11,456,251 (GRCm38) |
S58F |
probably damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,742,705 (GRCm38) |
R892G |
probably benign |
Het |
| Rock1 |
A |
G |
18: 10,067,535 (GRCm38) |
S1333P |
probably benign |
Het |
| Rpl7 |
A |
G |
1: 16,102,504 (GRCm38) |
I197T |
probably benign |
Het |
| Sar1a |
C |
A |
10: 61,685,616 (GRCm38) |
Q81K |
probably damaging |
Het |
| Shank1 |
A |
T |
7: 44,356,796 (GRCm38) |
H1979L |
possibly damaging |
Het |
| Slc10a2 |
C |
T |
8: 5,104,889 (GRCm38) |
V99M |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,335,801 (GRCm38) |
Q436* |
probably null |
Het |
| Szt2 |
C |
T |
4: 118,387,106 (GRCm38) |
R1305H |
probably damaging |
Het |
| Ubash3a |
G |
A |
17: 31,208,212 (GRCm38) |
G32S |
probably damaging |
Het |
| Vmn1r200 |
G |
A |
13: 22,395,890 (GRCm38) |
D279N |
probably damaging |
Het |
| Zbtb8a |
T |
C |
4: 129,354,221 (GRCm38) |
D419G |
possibly damaging |
Het |
|
| Other mutations in Aasdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Aasdh
|
APN |
5 |
76,878,534 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01013:Aasdh
|
APN |
5 |
76,886,206 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL01558:Aasdh
|
APN |
5 |
76,888,617 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02544:Aasdh
|
APN |
5 |
76,902,114 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL02614:Aasdh
|
APN |
5 |
76,896,368 (GRCm38) |
splice site |
probably benign |
|
|
IGL02678:Aasdh
|
APN |
5 |
76,888,020 (GRCm38) |
splice site |
probably benign |
|
|
IGL02739:Aasdh
|
APN |
5 |
76,878,517 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL02947:Aasdh
|
APN |
5 |
76,902,110 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03116:Aasdh
|
APN |
5 |
76,902,089 (GRCm38) |
splice site |
probably null |
|
|
IGL03398:Aasdh
|
APN |
5 |
76,891,719 (GRCm38) |
missense |
probably benign |
0.02 |
|
1mM(1):Aasdh
|
UTSW |
5 |
76,896,617 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0183:Aasdh
|
UTSW |
5 |
76,886,235 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0226:Aasdh
|
UTSW |
5 |
76,902,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0367:Aasdh
|
UTSW |
5 |
76,902,114 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0386:Aasdh
|
UTSW |
5 |
76,896,461 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0529:Aasdh
|
UTSW |
5 |
76,876,267 (GRCm38) |
nonsense |
probably null |
|
|
R0881:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0882:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1034:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1035:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1036:Aasdh
|
UTSW |
5 |
76,876,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1366:Aasdh
|
UTSW |
5 |
76,888,804 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1446:Aasdh
|
UTSW |
5 |
76,886,289 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1449:Aasdh
|
UTSW |
5 |
76,886,289 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1469:Aasdh
|
UTSW |
5 |
76,891,679 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1469:Aasdh
|
UTSW |
5 |
76,891,679 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1583:Aasdh
|
UTSW |
5 |
76,882,681 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1641:Aasdh
|
UTSW |
5 |
76,891,779 (GRCm38) |
missense |
probably benign |
0.36 |
|
R1876:Aasdh
|
UTSW |
5 |
76,877,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1895:Aasdh
|
UTSW |
5 |
76,891,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1946:Aasdh
|
UTSW |
5 |
76,891,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3615:Aasdh
|
UTSW |
5 |
76,888,782 (GRCm38) |
missense |
probably benign |
0.20 |
|
R3616:Aasdh
|
UTSW |
5 |
76,888,782 (GRCm38) |
missense |
probably benign |
0.20 |
|
R3746:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R3747:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R3748:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R3750:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R3836:Aasdh
|
UTSW |
5 |
76,878,468 (GRCm38) |
missense |
probably benign |
0.32 |
|
R4857:Aasdh
|
UTSW |
5 |
76,887,284 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4928:Aasdh
|
UTSW |
5 |
76,896,688 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R4937:Aasdh
|
UTSW |
5 |
76,888,654 (GRCm38) |
nonsense |
probably null |
|
|
R5762:Aasdh
|
UTSW |
5 |
76,896,598 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5866:Aasdh
|
UTSW |
5 |
76,876,211 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5940:Aasdh
|
UTSW |
5 |
76,882,898 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6253:Aasdh
|
UTSW |
5 |
76,886,258 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R6542:Aasdh
|
UTSW |
5 |
76,883,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6825:Aasdh
|
UTSW |
5 |
76,888,849 (GRCm38) |
splice site |
probably null |
|
|
R6868:Aasdh
|
UTSW |
5 |
76,891,680 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6876:Aasdh
|
UTSW |
5 |
76,896,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6961:Aasdh
|
UTSW |
5 |
76,876,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6963:Aasdh
|
UTSW |
5 |
76,896,456 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7069:Aasdh
|
UTSW |
5 |
76,876,356 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7220:Aasdh
|
UTSW |
5 |
76,901,925 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7545:Aasdh
|
UTSW |
5 |
76,880,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7673:Aasdh
|
UTSW |
5 |
76,882,708 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7703:Aasdh
|
UTSW |
5 |
76,888,077 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7890:Aasdh
|
UTSW |
5 |
76,884,122 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7978:Aasdh
|
UTSW |
5 |
76,888,668 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8046:Aasdh
|
UTSW |
5 |
76,896,478 (GRCm38) |
missense |
probably benign |
|
|
R8152:Aasdh
|
UTSW |
5 |
76,896,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8425:Aasdh
|
UTSW |
5 |
76,886,277 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R8884:Aasdh
|
UTSW |
5 |
76,891,794 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9028:Aasdh
|
UTSW |
5 |
76,876,130 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9361:Aasdh
|
UTSW |
5 |
76,882,378 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9519:Aasdh
|
UTSW |
5 |
76,882,725 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1088:Aasdh
|
UTSW |
5 |
76,901,157 (GRCm38) |
splice site |
probably null |
|
|
Z1176:Aasdh
|
UTSW |
5 |
76,891,796 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCATTGATTCCCAGACCACAGG -3'
(R):5'- TGAAGAGACCCCGTTGGACTCAAG -3'
Sequencing Primer
(F):5'- TTCCCAGACCACAGGAGAGG -3'
(R):5'- CCGTTGGACTCAAGAGTTGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation