Incidental Mutation 'R7069:Aasdh'
| ID |
548740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aasdh
|
| Ensembl Gene |
ENSMUSG00000055923 |
| Gene Name |
aminoadipate-semialdehyde dehydrogenase |
| Synonyms |
A230062G08Rik |
| MMRRC Submission |
045165-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R7069 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
77021506-77053361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77024203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 991
(I991L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069709]
[ENSMUST00000120639]
[ENSMUST00000120963]
[ENSMUST00000121160]
[ENSMUST00000123682]
[ENSMUST00000126741]
[ENSMUST00000149602]
[ENSMUST00000163347]
|
| AlphaFold |
Q80WC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069709
AA Change: I991L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: I991L
| 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 benign
Transcript: ENSMUST00000120963
AA Change: I991L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: I991L
| 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 |
probably benign
Transcript: ENSMUST00000149602
AA Change: I150L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000117489
Gene: ENSMUSG00000055923
AA Change: I150L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (86/88) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
C |
A |
10: 85,223,520 (GRCm39) |
R110S |
unknown |
Het |
| Actg2 |
C |
A |
6: 83,497,745 (GRCm39) |
G96V |
probably damaging |
Het |
| Adh5 |
T |
A |
3: 138,156,812 (GRCm39) |
L166* |
probably null |
Het |
| Akap13 |
A |
G |
7: 75,260,010 (GRCm39) |
D75G |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,739,947 (GRCm39) |
|
probably benign |
Het |
| Arfgap1 |
T |
A |
2: 180,615,913 (GRCm39) |
D197E |
probably benign |
Het |
| Aste1 |
T |
C |
9: 105,273,906 (GRCm39) |
|
probably null |
Het |
| Atp8b2 |
T |
A |
3: 89,861,878 (GRCm39) |
N78I |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 28,691,260 (GRCm39) |
|
probably benign |
Het |
| Chrd |
T |
A |
16: 20,558,183 (GRCm39) |
W809R |
probably damaging |
Het |
| Col2a1 |
C |
T |
15: 97,896,469 (GRCm39) |
G60D |
unknown |
Het |
| Coro7 |
T |
A |
16: 4,497,475 (GRCm39) |
M1L |
probably damaging |
Het |
| Cracdl |
A |
T |
1: 37,670,982 (GRCm39) |
F97Y |
probably damaging |
Het |
| Dhx40 |
T |
C |
11: 86,688,569 (GRCm39) |
I285V |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,432,222 (GRCm39) |
|
probably null |
Het |
| Enox1 |
A |
T |
14: 77,848,764 (GRCm39) |
R358S |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,815,990 (GRCm39) |
V2724A |
probably damaging |
Het |
| Fam221a |
A |
C |
6: 49,355,432 (GRCm39) |
Q178P |
probably damaging |
Het |
| Fcho1 |
A |
C |
8: 72,163,141 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
A |
T |
17: 7,988,567 (GRCm39) |
V1165D |
unknown |
Het |
| Gal3st2b |
A |
T |
1: 93,868,341 (GRCm39) |
N189Y |
possibly damaging |
Het |
| Ghr |
T |
A |
15: 3,349,966 (GRCm39) |
D404V |
probably damaging |
Het |
| Glis3 |
A |
T |
19: 28,508,919 (GRCm39) |
V355D |
probably damaging |
Het |
| Gpr12 |
A |
C |
5: 146,520,349 (GRCm39) |
V32G |
possibly damaging |
Het |
| Gspt1 |
T |
A |
16: 11,040,525 (GRCm39) |
L593F |
probably damaging |
Het |
| H2-Q7 |
A |
T |
17: 35,659,007 (GRCm39) |
T153S |
probably damaging |
Het |
| Hars2 |
A |
G |
18: 36,921,009 (GRCm39) |
I194V |
probably damaging |
Het |
| Hdac9 |
T |
A |
12: 34,479,548 (GRCm39) |
T202S |
possibly damaging |
Het |
| Hoxd13 |
T |
C |
2: 74,499,368 (GRCm39) |
Y239H |
probably damaging |
Het |
| Insm2 |
C |
T |
12: 55,646,621 (GRCm39) |
Q122* |
probably null |
Het |
| Insyn2b |
T |
A |
11: 34,352,677 (GRCm39) |
C240S |
possibly damaging |
Het |
| Ip6k1 |
T |
A |
9: 107,922,651 (GRCm39) |
|
probably null |
Het |
| Ippk |
T |
C |
13: 49,615,219 (GRCm39) |
V534A |
probably damaging |
Het |
| Itch |
T |
G |
2: 155,051,914 (GRCm39) |
F611C |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,104,776 (GRCm39) |
N1083K |
probably damaging |
Het |
| Itgae |
A |
C |
11: 73,006,969 (GRCm39) |
D405A |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,125,347 (GRCm39) |
S255P |
probably damaging |
Het |
| Klhl24 |
C |
G |
16: 19,926,231 (GRCm39) |
T253R |
probably benign |
Het |
| Krt81 |
T |
A |
15: 101,358,609 (GRCm39) |
T307S |
possibly damaging |
Het |
| Lbr |
A |
T |
1: 181,656,354 (GRCm39) |
W265R |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,283,999 (GRCm39) |
T527A |
probably benign |
Het |
| Lzts1 |
A |
C |
8: 69,593,397 (GRCm39) |
V70G |
probably damaging |
Het |
| Map3k6 |
C |
T |
4: 132,979,023 (GRCm39) |
P1154S |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,271,205 (GRCm39) |
D681G |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,533,526 (GRCm39) |
N948D |
probably benign |
Het |
| Mettl4 |
A |
T |
17: 95,041,061 (GRCm39) |
F364L |
probably damaging |
Het |
| Mosmo |
T |
C |
7: 120,277,055 (GRCm39) |
I23T |
probably benign |
Het |
| Mtg1 |
G |
A |
7: 139,723,657 (GRCm39) |
V96I |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,036,803 (GRCm39) |
R966S |
possibly damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,388,337 (GRCm39) |
|
probably null |
Het |
| Nid1 |
G |
A |
13: 13,683,353 (GRCm39) |
V1144I |
probably benign |
Het |
| Or4a77 |
T |
C |
2: 89,486,910 (GRCm39) |
I292V |
probably benign |
Het |
| Or52a33 |
A |
T |
7: 103,289,167 (GRCm39) |
M60K |
probably damaging |
Het |
| Or55b4 |
C |
A |
7: 102,133,979 (GRCm39) |
C116F |
possibly damaging |
Het |
| Oscar |
T |
G |
7: 3,614,238 (GRCm39) |
Y167S |
probably damaging |
Het |
| Pa2g4 |
T |
C |
10: 128,396,559 (GRCm39) |
T200A |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,877,126 (GRCm39) |
D227G |
probably benign |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,747,384 (GRCm39) |
G1702R |
probably damaging |
Het |
| Plxna2 |
C |
A |
1: 194,476,212 (GRCm39) |
T1144K |
possibly damaging |
Het |
| Prl8a8 |
G |
A |
13: 27,695,450 (GRCm39) |
T99I |
probably benign |
Het |
| Prr29 |
C |
A |
11: 106,267,085 (GRCm39) |
H83Q |
probably damaging |
Het |
| Raly |
T |
A |
2: 154,701,664 (GRCm39) |
I108N |
possibly damaging |
Het |
| Ranbp9 |
A |
T |
13: 43,573,098 (GRCm39) |
S475R |
probably benign |
Het |
| Rogdi |
C |
A |
16: 4,831,362 (GRCm39) |
|
probably benign |
Het |
| Rorc |
C |
T |
3: 94,280,214 (GRCm39) |
Q6* |
probably null |
Het |
| Sacs |
T |
C |
14: 61,449,945 (GRCm39) |
L3997S |
probably damaging |
Het |
| Scn2a |
A |
T |
2: 65,594,950 (GRCm39) |
Y1933F |
probably benign |
Het |
| Sik3 |
T |
C |
9: 46,122,041 (GRCm39) |
L898P |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,180 (GRCm39) |
I135M |
probably damaging |
Het |
| Slc26a3 |
C |
A |
12: 31,500,934 (GRCm39) |
Q224K |
probably damaging |
Het |
| Sobp |
G |
T |
10: 42,897,436 (GRCm39) |
N716K |
probably benign |
Het |
| Spata16 |
A |
G |
3: 26,981,483 (GRCm39) |
D513G |
probably damaging |
Het |
| Spata31h1 |
G |
A |
10: 82,125,777 (GRCm39) |
T2411I |
probably damaging |
Het |
| Speer4a3 |
A |
T |
5: 26,154,842 (GRCm39) |
S253T |
possibly damaging |
Het |
| Stac |
T |
C |
9: 111,401,394 (GRCm39) |
R351G |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,306,237 (GRCm39) |
T64S |
probably benign |
Het |
| Tert |
G |
A |
13: 73,776,529 (GRCm39) |
V427M |
probably damaging |
Het |
| Tex15 |
G |
A |
8: 34,060,748 (GRCm39) |
M333I |
probably benign |
Het |
| Tmbim4 |
A |
T |
10: 120,056,664 (GRCm39) |
Q72L |
probably benign |
Het |
| Trav9n-4 |
T |
C |
14: 53,532,256 (GRCm39) |
S37P |
probably benign |
Het |
| Trpv5 |
A |
T |
6: 41,652,894 (GRCm39) |
M93K |
possibly damaging |
Het |
| Ulk4 |
T |
C |
9: 121,087,876 (GRCm39) |
E272G |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 121,095,583 (GRCm39) |
T79A |
probably benign |
Het |
| Upb1 |
A |
G |
10: 75,248,602 (GRCm39) |
N41D |
probably benign |
Het |
| Wls |
A |
T |
3: 159,639,965 (GRCm39) |
Y532F |
probably damaging |
Het |
| Zdhhc5 |
G |
A |
2: 84,545,355 (GRCm39) |
|
probably benign |
Het |
| Zfp109 |
T |
C |
7: 23,928,785 (GRCm39) |
D216G |
probably benign |
Het |
| Zfp473 |
G |
A |
7: 44,381,798 (GRCm39) |
A845V |
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 |
|
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 |
|
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'- CAGTTTCCCGTCAGTGGATG -3'
(R):5'- GCTTTTACCACTGGAGCAGTTC -3'
Sequencing Primer
(F):5'- AGTGGATGCCGCTGCCAG -3'
(R):5'- AGAGCGCTACTTCCCAGAGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation