Incidental Mutation 'R1449:Aasdh'
| ID |
159120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| MMRRC Submission |
039504-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R1449 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
76873659-76905514 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76886289 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 472
(A472T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120963]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000146570]
[ENSMUST00000149602]
|
| AlphaFold |
Q80WC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069709
AA Change: A472T
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: A472T
| 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: A472T
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: A472T
| 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 |
noncoding transcript
Transcript: ENSMUST00000123059
|
| 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 |
probably benign
Transcript: ENSMUST00000146570
AA Change: A472T
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: A472T
| 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 |
probably benign
Transcript: ENSMUST00000149602
|
| SMART Domains |
Protein: ENSMUSP00000117489
Gene: ENSMUSG00000055923
| 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 |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.4%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
G |
4: 137,455,355 (GRCm38) |
N274D |
possibly damaging |
Het |
| 6430571L13Rik |
T |
A |
9: 107,342,490 (GRCm38) |
N47K |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,298,580 (GRCm38) |
T2776A |
probably damaging |
Het |
| Adamts10 |
T |
A |
17: 33,545,639 (GRCm38) |
V711D |
probably damaging |
Het |
| Adrb3 |
G |
A |
8: 27,227,387 (GRCm38) |
R345C |
probably damaging |
Het |
| Ak7 |
T |
C |
12: 105,742,261 (GRCm38) |
V325A |
possibly damaging |
Het |
| Armc6 |
G |
A |
8: 70,225,293 (GRCm38) |
L129F |
probably benign |
Het |
| Bend6 |
T |
C |
1: 33,878,343 (GRCm38) |
N10S |
probably benign |
Het |
| Bmpr1b |
T |
C |
3: 141,871,373 (GRCm38) |
E59G |
possibly damaging |
Het |
| Brd3 |
A |
G |
2: 27,450,251 (GRCm38) |
|
probably null |
Het |
| Brd3 |
A |
G |
2: 27,457,016 (GRCm38) |
Y369H |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,485,662 (GRCm38) |
|
probably null |
Het |
| Camk4 |
A |
G |
18: 32,939,475 (GRCm38) |
D27G |
probably damaging |
Het |
| Camkk1 |
T |
G |
11: 73,033,884 (GRCm38) |
S308A |
probably damaging |
Het |
| Catsperb |
A |
G |
12: 101,588,197 (GRCm38) |
T717A |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,376,951 (GRCm38) |
S1563R |
probably damaging |
Het |
| Cep44 |
A |
T |
8: 56,540,950 (GRCm38) |
S197R |
probably benign |
Het |
| Col3a1 |
T |
A |
1: 45,321,611 (GRCm38) |
I67N |
unknown |
Het |
| Dcaf12l1 |
T |
C |
X: 44,789,427 (GRCm38) |
T165A |
probably benign |
Het |
| Dicer1 |
T |
C |
12: 104,729,243 (GRCm38) |
Y143C |
possibly damaging |
Het |
| Dlg5 |
A |
G |
14: 24,135,643 (GRCm38) |
I1898T |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,263,951 (GRCm38) |
N3762D |
probably damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,742,223 (GRCm38) |
T1382S |
possibly damaging |
Het |
| Entpd3 |
A |
T |
9: 120,566,489 (GRCm38) |
R513W |
probably damaging |
Het |
| Foxred1 |
A |
G |
9: 35,209,442 (GRCm38) |
S132P |
probably damaging |
Het |
| Ftsj3 |
T |
C |
11: 106,253,000 (GRCm38) |
I273V |
probably benign |
Het |
| Hsd17b7 |
C |
T |
1: 169,959,682 (GRCm38) |
|
probably null |
Het |
| Iars |
T |
A |
13: 49,733,710 (GRCm38) |
V1253D |
probably damaging |
Het |
| Iqsec1 |
T |
A |
6: 90,690,808 (GRCm38) |
K216* |
probably null |
Het |
| Itga7 |
A |
G |
10: 128,953,501 (GRCm38) |
D971G |
probably benign |
Het |
| Kcnk2 |
G |
A |
1: 189,340,026 (GRCm38) |
S35L |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,812,736 (GRCm38) |
Y402C |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,250,495 (GRCm38) |
S484P |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,509,519 (GRCm38) |
|
probably null |
Het |
| Lhx8 |
G |
T |
3: 154,328,105 (GRCm38) |
S46* |
probably null |
Het |
| Lin7a |
T |
C |
10: 107,323,952 (GRCm38) |
S42P |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,354,278 (GRCm38) |
R1513Q |
probably damaging |
Het |
| Maml2 |
C |
A |
9: 13,620,684 (GRCm38) |
P398Q |
possibly damaging |
Het |
| Mast2 |
T |
C |
4: 116,309,013 (GRCm38) |
I1201V |
probably damaging |
Het |
| Mmp20 |
A |
T |
9: 7,642,768 (GRCm38) |
D201V |
probably damaging |
Het |
| Morn5 |
T |
A |
2: 36,057,080 (GRCm38) |
C123* |
probably null |
Het |
| Mrpl4 |
A |
G |
9: 21,007,511 (GRCm38) |
K175E |
possibly damaging |
Het |
| Nav3 |
A |
T |
10: 109,853,511 (GRCm38) |
S302T |
probably benign |
Het |
| Ndrg2 |
T |
C |
14: 51,908,134 (GRCm38) |
Y217C |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,976,803 (GRCm38) |
D159G |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 20,023,164 (GRCm38) |
T109S |
possibly damaging |
Het |
| Npepps |
A |
G |
11: 97,207,154 (GRCm38) |
Y909H |
probably benign |
Het |
| Olfr1510 |
A |
G |
14: 52,410,567 (GRCm38) |
C102R |
probably damaging |
Het |
| Olfr559 |
A |
T |
7: 102,724,190 (GRCm38) |
F100Y |
probably damaging |
Het |
| Olfr740 |
A |
G |
14: 50,453,921 (GRCm38) |
N290D |
probably damaging |
Het |
| Olfr801 |
T |
A |
10: 129,670,369 (GRCm38) |
D50V |
probably damaging |
Het |
| Olfr810 |
A |
C |
10: 129,790,854 (GRCm38) |
V245G |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,189,876 (GRCm38) |
H968R |
probably damaging |
Het |
| Pde1b |
T |
A |
15: 103,525,043 (GRCm38) |
I296N |
probably damaging |
Het |
| Phldb1 |
T |
A |
9: 44,716,633 (GRCm38) |
T172S |
probably benign |
Het |
| Plxdc2 |
T |
C |
2: 16,660,781 (GRCm38) |
V215A |
possibly damaging |
Het |
| Poln |
A |
G |
5: 34,014,338 (GRCm38) |
I695T |
probably damaging |
Het |
| Pou6f2 |
G |
T |
13: 18,172,415 (GRCm38) |
Q31K |
probably damaging |
Het |
| Psd |
T |
A |
19: 46,324,811 (GRCm38) |
Y40F |
probably damaging |
Het |
| Rnf126 |
T |
C |
10: 79,761,614 (GRCm38) |
N155D |
probably benign |
Het |
| Rpl36-ps3 |
C |
A |
12: 12,912,031 (GRCm38) |
|
noncoding transcript |
Het |
| Rrp15 |
C |
A |
1: 186,736,268 (GRCm38) |
V184F |
possibly damaging |
Het |
| Rslcan18 |
G |
T |
13: 67,102,100 (GRCm38) |
L24M |
possibly damaging |
Het |
| Sall1 |
A |
G |
8: 89,032,483 (GRCm38) |
I331T |
probably benign |
Het |
| Slamf7 |
A |
T |
1: 171,641,038 (GRCm38) |
N95K |
possibly damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,800,117 (GRCm38) |
Y339H |
probably damaging |
Het |
| Slc39a8 |
A |
G |
3: 135,826,685 (GRCm38) |
N72D |
probably benign |
Het |
| Slf1 |
A |
G |
13: 77,083,449 (GRCm38) |
S604P |
probably damaging |
Het |
| Slfn4 |
C |
T |
11: 83,188,993 (GRCm38) |
T110M |
probably benign |
Het |
| Tnpo1 |
T |
C |
13: 98,878,712 (GRCm38) |
T116A |
probably damaging |
Het |
| Tor1b |
T |
C |
2: 30,955,881 (GRCm38) |
I190T |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,969,794 (GRCm38) |
E357* |
probably null |
Het |
| Tubg2 |
G |
T |
11: 101,156,873 (GRCm38) |
E95* |
probably null |
Het |
| Ubap2 |
A |
G |
4: 41,209,351 (GRCm38) |
|
probably null |
Het |
| Ube2i |
T |
C |
17: 25,268,564 (GRCm38) |
D67G |
possibly damaging |
Het |
| Ubxn11 |
A |
G |
4: 134,124,892 (GRCm38) |
E50G |
probably damaging |
Het |
| Wnk1 |
A |
G |
6: 119,952,818 (GRCm38) |
V1246A |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,929,124 (GRCm38) |
T38A |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,646,005 (GRCm38) |
S552P |
probably 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 |
|
R1033: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 |
|
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'- ACACCGCTTTGTCGCTTTACCAT -3'
(R):5'- ATTGGCATTGTCTAAAGCTGACACCT -3'
Sequencing Primer
(F):5'- CATGGCATGTAAATGGCAGG -3'
(R):5'- tcactgctctttcagaggac -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation