Incidental Mutation 'R4865:Atp13a5'
| ID |
374868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a5
|
| Ensembl Gene |
ENSMUSG00000048939 |
| Gene Name |
ATPase type 13A5 |
| Synonyms |
C630015F21Rik |
| MMRRC Submission |
042475-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
29050603-29197550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29066912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 1020
(P1020L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075806]
[ENSMUST00000142681]
[ENSMUST00000143373]
|
| AlphaFold |
Q3TYU2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075806
AA Change: P1065L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: P1065L
| 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 damaging
Transcript: ENSMUST00000143373
AA Change: P1020L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: P1020L
| 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 |
0.7407 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
98% (86/88) |
| 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 |
|---|
| Ablim3 |
C |
T |
18: 61,938,157 (GRCm39) |
V639M |
probably damaging |
Het |
| Adgrf4 |
A |
G |
17: 42,978,156 (GRCm39) |
S396P |
probably damaging |
Het |
| Aldh3b2 |
T |
A |
19: 4,028,469 (GRCm39) |
I123N |
probably damaging |
Het |
| Aldh5a1 |
A |
G |
13: 25,095,567 (GRCm39) |
Y517H |
probably damaging |
Het |
| Aph1c |
A |
C |
9: 66,735,120 (GRCm39) |
I77S |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,408,942 (GRCm39) |
|
probably null |
Het |
| BC024139 |
A |
T |
15: 76,010,266 (GRCm39) |
M80K |
possibly damaging |
Het |
| Cdk5rap1 |
C |
T |
2: 154,212,876 (GRCm39) |
|
probably null |
Het |
| Cenpn |
A |
G |
8: 117,661,512 (GRCm39) |
I204V |
probably damaging |
Het |
| Ces4a |
A |
T |
8: 105,873,790 (GRCm39) |
M420L |
probably benign |
Het |
| Chdh |
T |
A |
14: 29,755,681 (GRCm39) |
D322E |
probably benign |
Het |
| Clcn6 |
A |
T |
4: 148,104,223 (GRCm39) |
I223N |
probably damaging |
Het |
| Clec4b1 |
A |
G |
6: 123,045,428 (GRCm39) |
K50E |
possibly damaging |
Het |
| Creg1 |
T |
A |
1: 165,597,432 (GRCm39) |
C135* |
probably null |
Het |
| Cyp4f13 |
C |
T |
17: 33,144,678 (GRCm39) |
R411Q |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,234,234 (GRCm39) |
F1426L |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,780,917 (GRCm39) |
*1917R |
probably null |
Het |
| Dync1h1 |
T |
G |
12: 110,606,235 (GRCm39) |
L2435R |
possibly damaging |
Het |
| Eif3l |
C |
A |
15: 78,965,849 (GRCm39) |
Y166* |
probably null |
Het |
| Emilin1 |
T |
A |
5: 31,075,128 (GRCm39) |
N456K |
possibly damaging |
Het |
| Fam83f |
C |
T |
15: 80,576,650 (GRCm39) |
R434C |
probably damaging |
Het |
| Fbxw9 |
A |
G |
8: 85,786,785 (GRCm39) |
D10G |
possibly damaging |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,821,295 (GRCm39) |
V5676G |
possibly damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
A |
G |
11: 99,684,064 (GRCm39) |
|
probably benign |
Het |
| Gm6522 |
T |
C |
3: 106,183,286 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6728 |
A |
G |
6: 136,464,072 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
T |
A |
9: 4,464,295 (GRCm39) |
I556F |
possibly damaging |
Het |
| Grp |
A |
T |
18: 66,013,041 (GRCm39) |
D69V |
probably damaging |
Het |
| Gucy1a1 |
G |
T |
3: 82,026,469 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,357,980 (GRCm39) |
L376Q |
probably damaging |
Het |
| Ifne |
A |
T |
4: 88,797,942 (GRCm39) |
Y159N |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,898,092 (GRCm39) |
V81A |
probably benign |
Het |
| Inpp5b |
T |
C |
4: 124,645,288 (GRCm39) |
V192A |
probably benign |
Het |
| Kcnh4 |
A |
G |
11: 100,640,569 (GRCm39) |
S486P |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,222,912 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,327,096 (GRCm39) |
E4800D |
probably damaging |
Het |
| Mblac2 |
C |
T |
13: 81,860,095 (GRCm39) |
Q150* |
probably null |
Het |
| Mc1r |
A |
T |
8: 124,134,255 (GRCm39) |
T3S |
probably benign |
Het |
| Med17 |
G |
A |
9: 15,176,668 (GRCm39) |
Q70* |
probably null |
Het |
| Myocd |
A |
T |
11: 65,069,856 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
T |
C |
9: 103,909,169 (GRCm39) |
L793P |
probably benign |
Het |
| Or1ad1 |
A |
G |
11: 50,876,370 (GRCm39) |
T281A |
probably damaging |
Het |
| Or2m13 |
A |
T |
16: 19,226,051 (GRCm39) |
F238L |
probably damaging |
Het |
| Or4a68 |
T |
G |
2: 89,270,003 (GRCm39) |
T207P |
possibly damaging |
Het |
| Or5an10 |
T |
C |
19: 12,275,944 (GRCm39) |
D184G |
probably damaging |
Het |
| Or5ap2 |
T |
A |
2: 85,680,060 (GRCm39) |
M88K |
probably damaging |
Het |
| Or8c13 |
T |
A |
9: 38,091,196 (GRCm39) |
T308S |
possibly damaging |
Het |
| Piezo1 |
A |
T |
8: 123,213,660 (GRCm39) |
L1745Q |
probably damaging |
Het |
| Prdm10 |
T |
A |
9: 31,258,376 (GRCm39) |
H600Q |
probably damaging |
Het |
| Psapl1 |
C |
A |
5: 36,362,211 (GRCm39) |
L268M |
probably damaging |
Het |
| Psg23 |
T |
C |
7: 18,346,039 (GRCm39) |
I219V |
probably benign |
Het |
| Rexo5 |
A |
T |
7: 119,400,553 (GRCm39) |
R113* |
probably null |
Het |
| Rgs22 |
A |
T |
15: 36,100,358 (GRCm39) |
I243N |
probably damaging |
Het |
| Rhbdf1 |
G |
A |
11: 32,164,517 (GRCm39) |
T183I |
probably damaging |
Het |
| Rhobtb1 |
T |
C |
10: 69,106,554 (GRCm39) |
M373T |
probably benign |
Het |
| Ros1 |
G |
T |
10: 52,048,966 (GRCm39) |
A88E |
probably damaging |
Het |
| Sdr16c6 |
A |
G |
4: 4,058,834 (GRCm39) |
F251L |
probably benign |
Het |
| Skil |
A |
G |
3: 31,167,562 (GRCm39) |
Y398C |
probably damaging |
Het |
| Slc22a3 |
A |
T |
17: 12,683,419 (GRCm39) |
M148K |
probably benign |
Het |
| Slco4c1 |
G |
A |
1: 96,768,953 (GRCm39) |
P303L |
probably damaging |
Het |
| Sntn |
A |
T |
14: 13,679,103 (GRCm38) |
K92N |
probably benign |
Het |
| Spry4 |
A |
T |
18: 38,722,876 (GRCm39) |
S296T |
probably benign |
Het |
| St8sia1 |
A |
G |
6: 142,774,796 (GRCm39) |
F261S |
probably damaging |
Het |
| Stab2 |
C |
T |
10: 86,679,364 (GRCm39) |
|
probably null |
Het |
| Stk24 |
A |
T |
14: 121,530,866 (GRCm39) |
C363* |
probably null |
Het |
| Tank |
G |
A |
2: 61,408,979 (GRCm39) |
|
probably benign |
Het |
| Tmem67 |
T |
C |
4: 12,070,262 (GRCm39) |
N387S |
probably benign |
Het |
| Treml1 |
A |
T |
17: 48,673,885 (GRCm39) |
I304L |
probably benign |
Het |
| Trim13 |
A |
G |
14: 61,842,966 (GRCm39) |
I328V |
probably benign |
Het |
| Upk2 |
A |
G |
9: 44,365,382 (GRCm39) |
V62A |
probably damaging |
Het |
| Urb2 |
A |
T |
8: 124,756,374 (GRCm39) |
K694* |
probably null |
Het |
| Vmn2r17 |
C |
A |
5: 109,574,985 (GRCm39) |
N97K |
probably damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,049,892 (GRCm39) |
V619D |
probably damaging |
Het |
| Vmn2r92 |
G |
A |
17: 18,387,634 (GRCm39) |
R213Q |
probably benign |
Het |
| Wnt6 |
G |
A |
1: 74,821,788 (GRCm39) |
C123Y |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,819,563 (GRCm39) |
I253T |
probably damaging |
Het |
| Zfp52 |
C |
T |
17: 21,781,505 (GRCm39) |
S451L |
probably damaging |
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 |
|
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'- GGTTTTCCCAGCTAAGACCAC -3'
(R):5'- TGAAAGCTGAAGTCACCTGG -3'
Sequencing Primer
(F):5'- TCCCAGCTAAGACCACTTTATTCAG -3'
(R):5'- CCATAGTGAATGCTTTCTGGTCAAC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation