Incidental Mutation 'R4632:Atp13a5'
| ID |
500737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a5
|
| Ensembl Gene |
ENSMUSG00000048939 |
| Gene Name |
ATPase type 13A5 |
| Synonyms |
C630015F21Rik |
| MMRRC Submission |
041897-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4632 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
29050603-29197550 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29167537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 138
(R138W)
|
| 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: R138W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: R138W
| 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: R138W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: R138W
| 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: R138W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: R138W
| 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: R138W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114703
Gene: ENSMUSG00000048939
AA Change: R138W
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,283,447 (GRCm39) |
V44A |
probably benign |
Het |
| Abr |
C |
T |
11: 76,399,845 (GRCm39) |
G39R |
probably benign |
Het |
| Adora2b |
TGGACCACTCCAGGACCACTC |
TGGACCACTC |
11: 62,156,208 (GRCm39) |
|
probably null |
Het |
| Agbl1 |
A |
G |
7: 76,063,433 (GRCm39) |
T47A |
probably benign |
Het |
| Akap13 |
G |
T |
7: 75,316,301 (GRCm39) |
A1389S |
possibly damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ankar |
T |
A |
1: 72,686,343 (GRCm39) |
T1286S |
probably benign |
Het |
| Ankrd13c |
A |
G |
3: 157,667,939 (GRCm39) |
H166R |
probably damaging |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Arl16 |
A |
G |
11: 120,356,610 (GRCm39) |
S130P |
probably damaging |
Het |
| Atp10a |
A |
T |
7: 58,457,186 (GRCm39) |
Q895L |
possibly damaging |
Het |
| Auts2 |
G |
A |
5: 131,501,113 (GRCm39) |
T309M |
probably damaging |
Het |
| C6 |
A |
T |
15: 4,789,350 (GRCm39) |
K265I |
probably benign |
Het |
| Casz1 |
A |
G |
4: 149,036,312 (GRCm39) |
T1525A |
possibly damaging |
Het |
| Cd200l1 |
T |
G |
16: 45,238,271 (GRCm39) |
H181P |
probably benign |
Het |
| Chpf2 |
A |
G |
5: 24,796,829 (GRCm39) |
T592A |
probably benign |
Het |
| Cilp |
A |
T |
9: 65,187,162 (GRCm39) |
T1086S |
probably benign |
Het |
| Cmip |
A |
G |
8: 118,174,150 (GRCm39) |
Y410C |
possibly damaging |
Het |
| Csmd3 |
A |
G |
15: 47,874,605 (GRCm39) |
C560R |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,403,562 (GRCm39) |
E2993D |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,467,110 (GRCm39) |
F3585L |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,325,272 (GRCm39) |
D545G |
unknown |
Het |
| Dusp7 |
T |
A |
9: 106,247,965 (GRCm39) |
S198T |
possibly damaging |
Het |
| Ell2 |
A |
T |
13: 75,917,693 (GRCm39) |
Q541L |
possibly damaging |
Het |
| Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
| Galntl6 |
T |
A |
8: 58,880,857 (GRCm39) |
I99F |
probably damaging |
Het |
| Gnat3 |
G |
A |
5: 18,220,364 (GRCm39) |
|
probably null |
Het |
| Hykk |
T |
C |
9: 54,853,800 (GRCm39) |
I374T |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,450,886 (GRCm39) |
I722V |
possibly damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Krt13 |
A |
G |
11: 100,012,050 (GRCm39) |
L91P |
possibly damaging |
Het |
| Krtap4-13 |
A |
C |
11: 99,700,354 (GRCm39) |
S102A |
unknown |
Het |
| Lrp2 |
A |
G |
2: 69,319,473 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
C |
T |
10: 103,057,288 (GRCm39) |
V171I |
probably damaging |
Het |
| Map3k4 |
C |
G |
17: 12,451,391 (GRCm39) |
E1501Q |
probably damaging |
Het |
| Mapk11 |
C |
T |
15: 89,030,579 (GRCm39) |
V105M |
probably damaging |
Het |
| Mlph |
G |
A |
1: 90,867,108 (GRCm39) |
A377T |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,776,947 (GRCm39) |
C1115Y |
probably benign |
Het |
| Nabp1 |
A |
T |
1: 51,513,761 (GRCm39) |
Y78* |
probably null |
Het |
| Nos2 |
T |
C |
11: 78,848,417 (GRCm39) |
F1108S |
possibly damaging |
Het |
| Oas2 |
T |
C |
5: 120,871,546 (GRCm39) |
K699R |
probably benign |
Het |
| Olfm5 |
T |
C |
7: 103,810,100 (GRCm39) |
D87G |
probably benign |
Het |
| Oog3 |
A |
G |
4: 143,884,698 (GRCm39) |
F413L |
probably benign |
Het |
| Or2c1 |
C |
T |
16: 3,656,951 (GRCm39) |
T38M |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,532,098 (GRCm39) |
M557V |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,347,796 (GRCm39) |
T224A |
probably benign |
Het |
| Pknox2 |
A |
G |
9: 36,805,709 (GRCm39) |
S367P |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,671,905 (GRCm39) |
|
probably null |
Het |
| Ppm1e |
G |
A |
11: 87,122,356 (GRCm39) |
P534S |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,390,659 (GRCm39) |
T100A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,717,726 (GRCm39) |
N1924S |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Samd12 |
T |
A |
15: 53,583,067 (GRCm39) |
H89L |
possibly damaging |
Het |
| Sephs1 |
T |
A |
2: 4,901,571 (GRCm39) |
V211E |
probably benign |
Het |
| Setx |
C |
T |
2: 29,038,627 (GRCm39) |
T1704I |
probably benign |
Het |
| Sltm |
T |
C |
9: 70,486,651 (GRCm39) |
S439P |
possibly damaging |
Het |
| Sort1 |
G |
T |
3: 108,253,994 (GRCm39) |
Q553H |
probably damaging |
Het |
| Svs5 |
G |
T |
2: 164,079,667 (GRCm39) |
T80N |
probably benign |
Het |
| Tanc1 |
C |
A |
2: 59,626,179 (GRCm39) |
T512K |
probably damaging |
Het |
| Tas2r139 |
T |
A |
6: 42,118,432 (GRCm39) |
V188E |
probably damaging |
Het |
| Tesk2 |
C |
T |
4: 116,598,909 (GRCm39) |
R6W |
probably benign |
Het |
| Tex101 |
G |
T |
7: 24,367,793 (GRCm39) |
C186* |
probably null |
Het |
| Timp2 |
C |
T |
11: 118,194,598 (GRCm39) |
S197N |
probably benign |
Het |
| Tmem37 |
A |
T |
1: 119,995,979 (GRCm39) |
C33S |
probably damaging |
Het |
| Tmem69 |
T |
C |
4: 116,410,235 (GRCm39) |
D245G |
probably benign |
Het |
| Trak1 |
G |
A |
9: 121,283,491 (GRCm39) |
R419Q |
probably benign |
Het |
| Ube2j2 |
T |
A |
4: 156,039,715 (GRCm39) |
I14N |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,128,071 (GRCm39) |
N694K |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,614,123 (GRCm39) |
V1277A |
probably damaging |
Het |
| Vmn2r100 |
C |
T |
17: 19,752,216 (GRCm39) |
S753F |
probably damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,958 (GRCm39) |
I250T |
probably benign |
Het |
| Zap70 |
G |
T |
1: 36,817,539 (GRCm39) |
A261S |
probably benign |
Het |
| Zdhhc6 |
A |
G |
19: 55,302,741 (GRCm39) |
W87R |
probably damaging |
Het |
| Zfp410 |
A |
T |
12: 84,372,510 (GRCm39) |
D112V |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,012,981 (GRCm39) |
F501S |
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 |
|
|
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'- CGTATGGTGGATGTCAAAGCAG -3'
(R):5'- TTGGCACCATTTGTGGAGAC -3'
Sequencing Primer
(F):5'- AAGCAGGAGTTACTGTCTTCCAGC -3'
(R):5'- TGTGGAGACAAAGTTGAGTGTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation