Incidental Mutation 'R4579:Atp13a5'
| ID |
343535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a5
|
| Ensembl Gene |
ENSMUSG00000048939 |
| Gene Name |
ATPase type 13A5 |
| Synonyms |
C630015F21Rik |
| MMRRC Submission |
041801-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4579 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
29050603-29197550 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 29067090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075806]
[ENSMUST00000142681]
[ENSMUST00000143373]
[ENSMUST00000143373]
|
| AlphaFold |
Q3TYU2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075806
|
| SMART Domains |
Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
| 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 benign
Transcript: ENSMUST00000142681
|
| SMART Domains |
Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
| 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 null
Transcript: ENSMUST00000143373
|
| SMART Domains |
Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
| 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 null
Transcript: ENSMUST00000143373
|
| SMART Domains |
Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
| 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 |
|
| Meta Mutation Damage Score |
0.9491 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (88/91) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930004D18Rik |
A |
G |
2: 18,031,848 (GRCm39) |
I90T |
probably damaging |
Het |
| Acox3 |
A |
G |
5: 35,761,987 (GRCm39) |
N444D |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,927,743 (GRCm39) |
Y499H |
probably damaging |
Het |
| Ajm1 |
T |
A |
2: 25,469,661 (GRCm39) |
R83S |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 126,752,612 (GRCm39) |
V368D |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 79,986,017 (GRCm39) |
V368A |
probably damaging |
Het |
| Bdh1 |
A |
T |
16: 31,254,954 (GRCm39) |
|
probably benign |
Het |
| Bmp6 |
A |
T |
13: 38,653,701 (GRCm39) |
Y256F |
probably damaging |
Het |
| Bub1b |
C |
A |
2: 118,453,657 (GRCm39) |
S496* |
probably null |
Het |
| Capn15 |
C |
T |
17: 26,178,811 (GRCm39) |
R1128H |
probably damaging |
Het |
| Ccnf |
T |
A |
17: 24,450,303 (GRCm39) |
R461* |
probably null |
Het |
| Col6a1 |
C |
T |
10: 76,547,191 (GRCm39) |
V725I |
unknown |
Het |
| Cp |
T |
C |
3: 20,011,599 (GRCm39) |
|
probably null |
Het |
| Cul2 |
T |
C |
18: 3,430,957 (GRCm39) |
V577A |
probably benign |
Het |
| Cux2 |
A |
T |
5: 121,998,716 (GRCm39) |
I1408K |
probably benign |
Het |
| Cyp2c69 |
T |
A |
19: 39,869,630 (GRCm39) |
T130S |
possibly damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,311,074 (GRCm39) |
T278A |
probably benign |
Het |
| Dchs1 |
T |
G |
7: 105,403,972 (GRCm39) |
T2857P |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,408,180 (GRCm39) |
M1884T |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,608,554 (GRCm39) |
S1802G |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,361,537 (GRCm39) |
S691G |
probably damaging |
Het |
| Dzip1l |
A |
T |
9: 99,529,267 (GRCm39) |
Q332L |
probably damaging |
Het |
| Eprs1 |
A |
G |
1: 185,133,804 (GRCm39) |
Y827C |
probably damaging |
Het |
| Ermp1 |
A |
T |
19: 29,594,051 (GRCm39) |
N706K |
probably damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,423 (GRCm39) |
L317S |
probably damaging |
Het |
| Fam120c |
G |
T |
X: 150,219,179 (GRCm39) |
G696W |
probably damaging |
Het |
| Fance |
T |
A |
17: 28,536,125 (GRCm39) |
|
probably null |
Het |
| Fancl |
G |
T |
11: 26,418,423 (GRCm39) |
|
probably null |
Het |
| Fbxo30 |
T |
A |
10: 11,165,293 (GRCm39) |
V5E |
probably benign |
Het |
| Foxn4 |
A |
T |
5: 114,394,886 (GRCm39) |
I347N |
possibly damaging |
Het |
| Galr2 |
A |
T |
11: 116,172,325 (GRCm39) |
D5V |
probably benign |
Het |
| Gm4845 |
T |
G |
1: 141,184,865 (GRCm39) |
|
noncoding transcript |
Het |
| Gnao1 |
A |
T |
8: 94,693,532 (GRCm39) |
Q73L |
probably damaging |
Het |
| Gnpat |
T |
A |
8: 125,605,241 (GRCm39) |
|
probably null |
Het |
| H2-T5 |
C |
T |
17: 36,472,649 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,791,356 (GRCm39) |
M2594T |
probably damaging |
Het |
| Hint3 |
T |
C |
10: 30,486,428 (GRCm39) |
H117R |
probably damaging |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,541 (GRCm39) |
F253L |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,904,466 (GRCm39) |
D313G |
possibly damaging |
Het |
| Kbtbd2 |
A |
T |
6: 56,755,893 (GRCm39) |
D614E |
probably damaging |
Het |
| Ksr2 |
A |
T |
5: 117,894,335 (GRCm39) |
I825F |
probably damaging |
Het |
| L3mbtl4 |
A |
T |
17: 69,071,635 (GRCm39) |
S521C |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,123,015 (GRCm39) |
N725S |
probably damaging |
Het |
| Med1 |
T |
G |
11: 98,049,248 (GRCm39) |
E516A |
possibly damaging |
Het |
| Mical3 |
A |
T |
6: 120,935,660 (GRCm39) |
V1622E |
probably benign |
Het |
| Miip |
G |
A |
4: 147,945,518 (GRCm39) |
P373S |
probably damaging |
Het |
| Myo7a |
C |
A |
7: 97,722,400 (GRCm39) |
S1175I |
probably damaging |
Het |
| Ndst3 |
A |
T |
3: 123,340,474 (GRCm39) |
D781E |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,359,583 (GRCm39) |
V1407E |
probably damaging |
Het |
| Opalin |
A |
G |
19: 41,056,196 (GRCm39) |
L33P |
probably damaging |
Het |
| Or2f2 |
A |
T |
6: 42,767,458 (GRCm39) |
I162F |
probably benign |
Het |
| Or2n1b |
G |
C |
17: 38,460,296 (GRCm39) |
K272N |
probably damaging |
Het |
| Or4c111 |
T |
C |
2: 88,843,488 (GRCm39) |
I307V |
probably benign |
Het |
| Or8b12i |
G |
T |
9: 20,082,410 (GRCm39) |
S152R |
probably damaging |
Het |
| Or8k28 |
T |
C |
2: 86,285,859 (GRCm39) |
Y252C |
probably damaging |
Het |
| Or8s10 |
A |
T |
15: 98,335,560 (GRCm39) |
D70V |
probably damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,168 (GRCm39) |
N23K |
probably damaging |
Het |
| Pdap1 |
A |
G |
5: 145,073,691 (GRCm39) |
|
probably benign |
Het |
| Pds5b |
A |
G |
5: 150,670,197 (GRCm39) |
E395G |
probably damaging |
Het |
| Pex1 |
C |
A |
5: 3,668,880 (GRCm39) |
R624S |
probably benign |
Het |
| Pitrm1 |
G |
A |
13: 6,608,261 (GRCm39) |
V329I |
probably benign |
Het |
| Pop1 |
G |
A |
15: 34,515,970 (GRCm39) |
|
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,190,082 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
G |
T |
12: 73,335,298 (GRCm39) |
|
probably null |
Het |
| Slc5a9 |
T |
A |
4: 111,750,384 (GRCm39) |
Y158F |
probably damaging |
Het |
| Spata3 |
T |
A |
1: 85,954,175 (GRCm39) |
V114E |
probably damaging |
Het |
| Tbcb |
T |
A |
7: 29,931,019 (GRCm39) |
I34F |
possibly damaging |
Het |
| Tek |
T |
A |
4: 94,751,903 (GRCm39) |
Y1014* |
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,014,681 (GRCm39) |
C644F |
probably damaging |
Het |
| Trim56 |
A |
C |
5: 137,142,918 (GRCm39) |
D199E |
possibly damaging |
Het |
| Tssk3 |
A |
T |
4: 129,383,110 (GRCm39) |
D187E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,727,147 (GRCm39) |
|
probably benign |
Het |
| Twf2 |
G |
A |
9: 106,090,025 (GRCm39) |
R126Q |
probably benign |
Het |
| Ugt1a10 |
T |
C |
1: 87,983,838 (GRCm39) |
M212T |
probably benign |
Het |
| Vmn1r177 |
A |
T |
7: 23,565,772 (GRCm39) |
F35I |
possibly damaging |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,915 (GRCm39) |
H77Q |
possibly damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,034,143 (GRCm39) |
Y186N |
probably damaging |
Het |
| Zfp524 |
G |
A |
7: 5,021,347 (GRCm39) |
V292I |
probably benign |
Het |
| Zfp788 |
T |
G |
7: 41,297,018 (GRCm39) |
I56S |
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 |
|
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 |
|
R5011:Atp13a5
|
UTSW |
16 |
29,169,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CCGAAACGGCTTTCCCTTAG -3'
(R):5'- ATTATCTGCTCTTCACAGGGG -3'
Sequencing Primer
(F):5'- TGCAGTTGAAGGTGACGA -3'
(R):5'- CTCTTCACAGGGGACAGACAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation