Incidental Mutation 'R5011:Atp13a5'
| ID |
390544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a5
|
| Ensembl Gene |
ENSMUSG00000048939 |
| Gene Name |
ATPase type 13A5 |
| Synonyms |
C630015F21Rik |
| MMRRC Submission |
042602-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5011 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
29050603-29197550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29169566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 42
(L42Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075806]
[ENSMUST00000142681]
[ENSMUST00000143373]
[ENSMUST00000152040]
|
| AlphaFold |
Q3TYU2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075806
AA Change: L42Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: L42Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
142 |
4.1e-31 |
PFAM |
|
Cation_ATPase_N
|
163 |
223 |
8.78e0 |
SMART |
|
Pfam:E1-E2_ATPase
|
228 |
475 |
1.5e-35 |
PFAM |
|
Pfam:Hydrolase
|
480 |
759 |
2.7e-11 |
PFAM |
|
Pfam:HAD
|
483 |
857 |
1.1e-28 |
PFAM |
|
Pfam:Cation_ATPase
|
564 |
638 |
1.3e-6 |
PFAM |
|
transmembrane domain
|
901 |
923 |
N/A |
INTRINSIC |
|
transmembrane domain
|
933 |
950 |
N/A |
INTRINSIC |
|
transmembrane domain
|
971 |
993 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1042 |
1061 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1070 |
1092 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1107 |
1129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142681
AA Change: L42Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: L42Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
142 |
7.5e-25 |
PFAM |
|
Cation_ATPase_N
|
163 |
223 |
8.78e0 |
SMART |
|
Pfam:E1-E2_ATPase
|
229 |
475 |
1e-36 |
PFAM |
|
Pfam:Hydrolase
|
480 |
860 |
5.9e-16 |
PFAM |
|
Pfam:HAD
|
483 |
857 |
4e-27 |
PFAM |
|
Pfam:Hydrolase_like2
|
565 |
638 |
3.7e-8 |
PFAM |
|
transmembrane domain
|
901 |
923 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143373
AA Change: L42Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: L42Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
142 |
1e-24 |
PFAM |
|
Pfam:E1-E2_ATPase
|
196 |
430 |
3.2e-34 |
PFAM |
|
Pfam:Hydrolase
|
435 |
815 |
9.1e-16 |
PFAM |
|
Pfam:HAD
|
438 |
812 |
6.2e-27 |
PFAM |
|
Pfam:Hydrolase_like2
|
520 |
593 |
4.8e-8 |
PFAM |
|
transmembrane domain
|
856 |
878 |
N/A |
INTRINSIC |
|
transmembrane domain
|
888 |
905 |
N/A |
INTRINSIC |
|
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
|
transmembrane domain
|
997 |
1016 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1025 |
1047 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1062 |
1084 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152040
AA Change: L42Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114703
Gene: ENSMUSG00000048939
AA Change: L42Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
143 |
1.4e-25 |
PFAM |
|
Cation_ATPase_N
|
149 |
209 |
8.78e0 |
SMART |
|
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1602 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (104/104) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810010H24Rik |
T |
C |
11: 106,919,324 (GRCm39) |
V223A |
probably damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Ahctf1 |
A |
T |
1: 179,611,675 (GRCm39) |
I565N |
possibly damaging |
Het |
| Ank1 |
C |
T |
8: 23,572,300 (GRCm39) |
T70I |
probably damaging |
Het |
| Atg16l1 |
C |
A |
1: 87,701,902 (GRCm39) |
S248* |
probably null |
Het |
| Atxn1 |
T |
C |
13: 45,710,545 (GRCm39) |
N796D |
probably damaging |
Het |
| C3 |
T |
A |
17: 57,530,236 (GRCm39) |
Y455F |
probably benign |
Het |
| Card11 |
A |
T |
5: 140,862,275 (GRCm39) |
D1007E |
possibly damaging |
Het |
| Cbr2 |
T |
C |
11: 120,621,697 (GRCm39) |
D60G |
possibly damaging |
Het |
| Cgn |
T |
A |
3: 94,683,455 (GRCm39) |
E400V |
probably null |
Het |
| Chil3 |
T |
A |
3: 106,057,477 (GRCm39) |
Y229F |
possibly damaging |
Het |
| Clcn2 |
G |
A |
16: 20,525,965 (GRCm39) |
P785S |
probably damaging |
Het |
| Clk1 |
T |
C |
1: 58,453,642 (GRCm39) |
I315V |
probably benign |
Het |
| Cops6 |
A |
G |
5: 138,160,459 (GRCm39) |
D102G |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,513,983 (GRCm39) |
I743T |
possibly damaging |
Het |
| Dnaaf5 |
T |
A |
5: 139,149,012 (GRCm39) |
L437Q |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,431,326 (GRCm39) |
D381E |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Draxin |
C |
A |
4: 148,192,436 (GRCm39) |
R292L |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,289,728 (GRCm39) |
V5776A |
probably damaging |
Het |
| Eddm13 |
G |
A |
7: 6,269,332 (GRCm39) |
|
probably benign |
Het |
| Ercc4 |
G |
A |
16: 12,941,445 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,254,582 (GRCm39) |
N417Y |
probably damaging |
Het |
| Fam149b |
T |
A |
14: 20,413,439 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,484,300 (GRCm39) |
|
probably null |
Het |
| Fbxl18 |
A |
G |
5: 142,872,435 (GRCm39) |
S267P |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,873,135 (GRCm39) |
Y1315C |
probably damaging |
Het |
| Fgd2 |
T |
C |
17: 29,593,954 (GRCm39) |
|
probably null |
Het |
| Gm7251 |
T |
A |
13: 49,958,656 (GRCm39) |
|
noncoding transcript |
Het |
| Golt1a |
T |
C |
1: 133,248,006 (GRCm39) |
V78A |
probably damaging |
Het |
| Gsn |
T |
A |
2: 35,188,933 (GRCm39) |
Y440N |
probably damaging |
Het |
| Gtf2ird2 |
G |
T |
5: 134,245,824 (GRCm39) |
S694I |
possibly damaging |
Het |
| H2-Ob |
T |
A |
17: 34,460,253 (GRCm39) |
|
probably null |
Het |
| Hsp90b1 |
T |
C |
10: 86,532,617 (GRCm39) |
D353G |
probably benign |
Het |
| Ilk |
A |
G |
7: 105,391,456 (GRCm39) |
D374G |
probably damaging |
Het |
| Invs |
G |
A |
4: 48,421,807 (GRCm39) |
R813Q |
probably damaging |
Het |
| Itga7 |
G |
A |
10: 128,785,316 (GRCm39) |
V836M |
possibly damaging |
Het |
| Itln1 |
T |
A |
1: 171,360,958 (GRCm39) |
K45* |
probably null |
Het |
| Ivd |
A |
G |
2: 118,710,946 (GRCm39) |
Y385C |
probably damaging |
Het |
| Ivns1abp |
T |
A |
1: 151,238,953 (GRCm39) |
M589K |
possibly damaging |
Het |
| Jakmip3 |
C |
T |
7: 138,621,951 (GRCm39) |
R284W |
probably damaging |
Het |
| Kank3 |
T |
C |
17: 34,041,044 (GRCm39) |
L512P |
probably damaging |
Het |
| Kcnn2 |
T |
A |
18: 45,818,352 (GRCm39) |
I483N |
possibly damaging |
Het |
| Klk1b4 |
A |
G |
7: 43,860,492 (GRCm39) |
N170S |
probably benign |
Het |
| Klk1b9 |
A |
C |
7: 43,445,419 (GRCm39) |
D203A |
probably damaging |
Het |
| Lbr |
A |
T |
1: 181,647,453 (GRCm39) |
Y199* |
probably null |
Het |
| Lcn6 |
T |
A |
2: 25,567,082 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
T |
C |
10: 103,025,784 (GRCm39) |
D946G |
probably damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,373,152 (GRCm39) |
L265H |
probably damaging |
Het |
| Maml3 |
A |
T |
3: 51,598,196 (GRCm39) |
N183K |
possibly damaging |
Het |
| Mprip |
T |
C |
11: 59,650,721 (GRCm39) |
V1475A |
possibly damaging |
Het |
| Myh4 |
C |
A |
11: 67,147,189 (GRCm39) |
S1611R |
probably benign |
Het |
| Nagpa |
A |
T |
16: 5,013,743 (GRCm39) |
M365K |
probably benign |
Het |
| Nckap5l |
G |
T |
15: 99,324,457 (GRCm39) |
P682Q |
probably benign |
Het |
| Nudt12 |
T |
C |
17: 59,303,499 (GRCm39) |
|
probably benign |
Het |
| Nup153 |
T |
C |
13: 46,840,879 (GRCm39) |
T910A |
possibly damaging |
Het |
| Or1e31 |
T |
A |
11: 73,690,473 (GRCm39) |
T37S |
possibly damaging |
Het |
| Or5ae2 |
T |
C |
7: 84,505,646 (GRCm39) |
V23A |
probably damaging |
Het |
| Or7c74 |
A |
G |
2: 37,160,937 (GRCm39) |
|
noncoding transcript |
Het |
| Or8k53 |
A |
T |
2: 86,177,647 (GRCm39) |
F154L |
probably benign |
Het |
| Pate14 |
T |
C |
9: 36,549,120 (GRCm39) |
N47D |
probably benign |
Het |
| Pbx2 |
T |
A |
17: 34,813,673 (GRCm39) |
C224* |
probably null |
Het |
| Pcdha6 |
A |
G |
18: 37,100,960 (GRCm39) |
D51G |
probably damaging |
Het |
| Pnpla1 |
C |
T |
17: 29,104,558 (GRCm39) |
T538I |
possibly damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,039,204 (GRCm39) |
|
probably null |
Het |
| Psme2b |
C |
T |
11: 48,836,654 (GRCm39) |
E98K |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,297,717 (GRCm39) |
S375T |
probably benign |
Het |
| Rimbp2 |
T |
C |
5: 128,880,985 (GRCm39) |
Y134C |
probably damaging |
Het |
| Ryr1 |
G |
A |
7: 28,802,234 (GRCm39) |
|
probably null |
Het |
| Sh3tc1 |
G |
T |
5: 35,857,633 (GRCm39) |
A1185D |
probably damaging |
Het |
| Sin3b |
G |
A |
8: 73,471,184 (GRCm39) |
S377N |
probably benign |
Het |
| Slc28a2 |
T |
C |
2: 122,288,371 (GRCm39) |
M554T |
possibly damaging |
Het |
| Snhg11 |
T |
C |
2: 158,218,872 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,139,479 (GRCm39) |
N614I |
probably damaging |
Het |
| Tert |
T |
C |
13: 73,794,428 (GRCm39) |
|
probably null |
Het |
| Thap4 |
T |
C |
1: 93,677,598 (GRCm39) |
Y396C |
probably damaging |
Het |
| Tle2 |
T |
C |
10: 81,420,531 (GRCm39) |
L348P |
probably damaging |
Het |
| Tmem104 |
T |
C |
11: 115,134,312 (GRCm39) |
S283P |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,953,949 (GRCm39) |
E602G |
possibly damaging |
Het |
| Tpm4 |
A |
G |
8: 72,900,938 (GRCm39) |
K190R |
probably benign |
Het |
| Ttf2 |
T |
C |
3: 100,870,485 (GRCm39) |
E196G |
probably benign |
Het |
| Ugt3a1 |
T |
C |
15: 9,365,373 (GRCm39) |
W329R |
probably damaging |
Het |
| Unc13a |
G |
A |
8: 72,094,121 (GRCm39) |
Q1327* |
probably null |
Het |
| Vmn1r194 |
C |
T |
13: 22,429,058 (GRCm39) |
T225I |
probably benign |
Het |
| Vmn1r215 |
T |
C |
13: 23,260,721 (GRCm39) |
S254P |
probably damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,775,451 (GRCm39) |
E92G |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,987,809 (GRCm39) |
M625V |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,341,015 (GRCm39) |
W1832R |
probably damaging |
Het |
| Zfp189 |
G |
A |
4: 49,530,438 (GRCm39) |
G514S |
probably damaging |
Het |
| Zfp768 |
T |
C |
7: 126,942,875 (GRCm39) |
R418G |
probably damaging |
Het |
| Zmynd11 |
C |
T |
13: 9,739,479 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Atp13a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Atp13a5
|
APN |
16 |
29,085,766 (GRCm39) |
nonsense |
probably null |
|
|
IGL00583:Atp13a5
|
APN |
16 |
29,094,205 (GRCm39) |
splice site |
probably benign |
|
|
IGL01472:Atp13a5
|
APN |
16 |
29,094,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01473:Atp13a5
|
APN |
16 |
29,135,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02142:Atp13a5
|
APN |
16 |
29,053,315 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02346:Atp13a5
|
APN |
16 |
29,146,554 (GRCm39) |
nonsense |
probably null |
|
|
IGL02454:Atp13a5
|
APN |
16 |
29,051,560 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02557:Atp13a5
|
APN |
16 |
29,066,934 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02651:Atp13a5
|
APN |
16 |
29,152,909 (GRCm39) |
splice site |
probably benign |
|
|
IGL02697:Atp13a5
|
APN |
16 |
29,167,350 (GRCm39) |
missense |
probably benign |
|
|
IGL02704:Atp13a5
|
APN |
16 |
29,070,080 (GRCm39) |
nonsense |
probably null |
|
|
IGL02993:Atp13a5
|
APN |
16 |
29,112,322 (GRCm39) |
nonsense |
probably null |
|
|
IGL03329:Atp13a5
|
APN |
16 |
29,152,883 (GRCm39) |
nonsense |
probably null |
|
|
IGL03346:Atp13a5
|
APN |
16 |
29,133,422 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03493:Atp13a5
|
APN |
16 |
29,116,342 (GRCm39) |
missense |
probably benign |
|
|
PIT4810001:Atp13a5
|
UTSW |
16 |
29,133,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0356:Atp13a5
|
UTSW |
16 |
29,167,573 (GRCm39) |
splice site |
probably benign |
|
|
R0393:Atp13a5
|
UTSW |
16 |
29,085,681 (GRCm39) |
splice site |
probably benign |
|
|
R0456:Atp13a5
|
UTSW |
16 |
29,051,492 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0526:Atp13a5
|
UTSW |
16 |
29,167,558 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0632:Atp13a5
|
UTSW |
16 |
29,117,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0674:Atp13a5
|
UTSW |
16 |
29,067,102 (GRCm39) |
splice site |
probably benign |
|
|
R1417:Atp13a5
|
UTSW |
16 |
29,117,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1470:Atp13a5
|
UTSW |
16 |
29,167,833 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1470:Atp13a5
|
UTSW |
16 |
29,167,833 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1515:Atp13a5
|
UTSW |
16 |
29,152,792 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1659:Atp13a5
|
UTSW |
16 |
29,112,251 (GRCm39) |
missense |
probably benign |
|
|
R1723:Atp13a5
|
UTSW |
16 |
29,051,551 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1779:Atp13a5
|
UTSW |
16 |
29,133,478 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1794:Atp13a5
|
UTSW |
16 |
29,140,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1958:Atp13a5
|
UTSW |
16 |
29,133,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2218:Atp13a5
|
UTSW |
16 |
29,140,464 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2282:Atp13a5
|
UTSW |
16 |
29,056,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2356:Atp13a5
|
UTSW |
16 |
29,099,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2365:Atp13a5
|
UTSW |
16 |
29,070,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2497:Atp13a5
|
UTSW |
16 |
29,157,889 (GRCm39) |
nonsense |
probably null |
|
|
R2517:Atp13a5
|
UTSW |
16 |
29,116,215 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3552:Atp13a5
|
UTSW |
16 |
29,129,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3685:Atp13a5
|
UTSW |
16 |
29,135,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3957:Atp13a5
|
UTSW |
16 |
29,117,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4433:Atp13a5
|
UTSW |
16 |
29,100,842 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4503:Atp13a5
|
UTSW |
16 |
29,112,346 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4579:Atp13a5
|
UTSW |
16 |
29,067,090 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4632:Atp13a5
|
UTSW |
16 |
29,167,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4718:Atp13a5
|
UTSW |
16 |
29,066,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Atp13a5
|
UTSW |
16 |
29,066,912 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4899:Atp13a5
|
UTSW |
16 |
29,197,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4909:Atp13a5
|
UTSW |
16 |
29,152,846 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5013:Atp13a5
|
UTSW |
16 |
29,169,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Atp13a5
|
UTSW |
16 |
29,082,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5226:Atp13a5
|
UTSW |
16 |
29,067,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5485:Atp13a5
|
UTSW |
16 |
29,100,760 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5598:Atp13a5
|
UTSW |
16 |
29,075,829 (GRCm39) |
intron |
probably benign |
|
|
R5945:Atp13a5
|
UTSW |
16 |
29,055,995 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5958:Atp13a5
|
UTSW |
16 |
29,157,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6194:Atp13a5
|
UTSW |
16 |
29,127,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6214:Atp13a5
|
UTSW |
16 |
29,070,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6273:Atp13a5
|
UTSW |
16 |
29,167,555 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6376:Atp13a5
|
UTSW |
16 |
29,056,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6431:Atp13a5
|
UTSW |
16 |
29,070,154 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6495:Atp13a5
|
UTSW |
16 |
29,140,440 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6619:Atp13a5
|
UTSW |
16 |
29,167,833 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6853:Atp13a5
|
UTSW |
16 |
29,140,480 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6932:Atp13a5
|
UTSW |
16 |
29,100,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Atp13a5
|
UTSW |
16 |
29,152,879 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7343:Atp13a5
|
UTSW |
16 |
29,140,567 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7425:Atp13a5
|
UTSW |
16 |
29,116,278 (GRCm39) |
nonsense |
probably null |
|
|
R7570:Atp13a5
|
UTSW |
16 |
29,085,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7781:Atp13a5
|
UTSW |
16 |
29,116,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7876:Atp13a5
|
UTSW |
16 |
29,140,566 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8358:Atp13a5
|
UTSW |
16 |
29,167,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Atp13a5
|
UTSW |
16 |
29,167,820 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8435:Atp13a5
|
UTSW |
16 |
29,099,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8830:Atp13a5
|
UTSW |
16 |
29,066,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8946:Atp13a5
|
UTSW |
16 |
29,146,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8950:Atp13a5
|
UTSW |
16 |
29,197,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9222:Atp13a5
|
UTSW |
16 |
29,133,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9454:Atp13a5
|
UTSW |
16 |
29,133,338 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9756:Atp13a5
|
UTSW |
16 |
29,051,583 (GRCm39) |
frame shift |
probably null |
|
|
R9769:Atp13a5
|
UTSW |
16 |
29,167,513 (GRCm39) |
nonsense |
probably null |
|
|
R9797:Atp13a5
|
UTSW |
16 |
29,133,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0023:Atp13a5
|
UTSW |
16 |
29,129,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Atp13a5
|
UTSW |
16 |
29,100,880 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Atp13a5
|
UTSW |
16 |
29,099,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTCACACAGCAATAGGGTATG -3'
(R):5'- CTATCAACTGATGTTCTCAACCAAC -3'
Sequencing Primer
(F):5'- CACACAGCAATAGGGTATGTTCTG -3'
(R):5'- GATGTTCTCAACCAACAGCCCTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation