Incidental Mutation 'R7876:Atp13a5'
ID |
608459 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a5
|
Ensembl Gene |
ENSMUSG00000048939 |
Gene Name |
ATPase type 13A5 |
Synonyms |
C630015F21Rik |
MMRRC Submission |
045928-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7876 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
29050603-29197550 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29140566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 330
(N330I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075806]
[ENSMUST00000142681]
[ENSMUST00000143373]
|
AlphaFold |
Q3TYU2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075806
AA Change: N330I
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000075204 Gene: ENSMUSG00000048939 AA Change: N330I
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 |
possibly damaging
Transcript: ENSMUST00000142681
AA Change: N330I
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118627 Gene: ENSMUSG00000048939 AA Change: N330I
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 |
possibly damaging
Transcript: ENSMUST00000143373
AA Change: N285I
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121208 Gene: ENSMUSG00000048939 AA Change: N285I
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 |
0.1200 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (56/56) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2a |
A |
G |
2: 48,760,439 (GRCm39) |
K65R |
probably benign |
Het |
Adprhl1 |
T |
C |
8: 13,273,509 (GRCm39) |
D1083G |
probably benign |
Het |
Aox1 |
C |
T |
1: 58,101,330 (GRCm39) |
Q434* |
probably null |
Het |
Brd8 |
A |
G |
18: 34,739,740 (GRCm39) |
F678L |
probably benign |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
C87436 |
T |
A |
6: 86,423,411 (GRCm39) |
|
probably null |
Het |
Cacna1h |
A |
T |
17: 25,594,225 (GRCm39) |
I2311K |
probably benign |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cux1 |
T |
C |
5: 136,392,161 (GRCm39) |
T187A |
probably benign |
Het |
Dip2b |
A |
G |
15: 100,088,922 (GRCm39) |
I1031V |
probably benign |
Het |
Efna5 |
T |
C |
17: 62,957,929 (GRCm39) |
N109S |
possibly damaging |
Het |
Fat2 |
A |
T |
11: 55,202,046 (GRCm39) |
S343T |
probably benign |
Het |
Fubp1 |
T |
C |
3: 151,937,928 (GRCm39) |
Y654H |
unknown |
Het |
Gbe1 |
G |
A |
16: 70,238,059 (GRCm39) |
V282I |
probably benign |
Het |
Grik1 |
T |
C |
16: 87,720,121 (GRCm39) |
K719E |
|
Het |
Grm6 |
A |
T |
11: 50,750,457 (GRCm39) |
Y540F |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,620,722 (GRCm39) |
V1163I |
probably benign |
Het |
Igkv4-53 |
T |
A |
6: 69,625,987 (GRCm39) |
Q60L |
possibly damaging |
Het |
Igkv4-59 |
A |
T |
6: 69,415,337 (GRCm39) |
S73T |
probably damaging |
Het |
Il1a |
A |
C |
2: 129,142,762 (GRCm39) |
W228G |
probably damaging |
Het |
Klk13 |
A |
G |
7: 43,370,403 (GRCm39) |
D22G |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,913,850 (GRCm39) |
C602S |
probably damaging |
Het |
Kras |
T |
C |
6: 145,170,848 (GRCm39) |
K176E |
probably benign |
Het |
Krtap5-4 |
G |
A |
7: 141,857,585 (GRCm39) |
C85Y |
unknown |
Het |
Map3k13 |
A |
G |
16: 21,741,069 (GRCm39) |
T799A |
probably benign |
Het |
Mfhas1 |
T |
C |
8: 36,056,697 (GRCm39) |
Y391H |
probably damaging |
Het |
Morf4l1 |
G |
A |
9: 89,975,859 (GRCm39) |
A311V |
possibly damaging |
Het |
Ms4a8a |
T |
A |
19: 11,056,848 (GRCm39) |
Q78L |
probably damaging |
Het |
Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
Nav3 |
T |
C |
10: 109,689,359 (GRCm39) |
N306S |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 26,956,519 (GRCm39) |
|
probably null |
Het |
Nrg2 |
T |
A |
18: 36,330,140 (GRCm39) |
Y25F |
unknown |
Het |
Nup153 |
C |
T |
13: 46,835,084 (GRCm39) |
S1407N |
probably benign |
Het |
Or2c1 |
T |
A |
16: 3,656,658 (GRCm39) |
|
probably null |
Het |
Or4c99 |
A |
G |
2: 88,329,999 (GRCm39) |
Y190C |
probably damaging |
Het |
Or5b123 |
A |
G |
19: 13,596,628 (GRCm39) |
Y34C |
probably damaging |
Het |
Pcf11 |
A |
C |
7: 92,310,534 (GRCm39) |
S485A |
probably damaging |
Het |
Pde8a |
A |
G |
7: 80,973,819 (GRCm39) |
D592G |
probably damaging |
Het |
Perm1 |
G |
A |
4: 156,302,046 (GRCm39) |
G197R |
probably damaging |
Het |
Pigo |
A |
T |
4: 43,020,671 (GRCm39) |
M757K |
probably benign |
Het |
Pls1 |
G |
A |
9: 95,667,558 (GRCm39) |
Q117* |
probably null |
Het |
Plscr2 |
T |
C |
9: 92,169,781 (GRCm39) |
V77A |
probably benign |
Het |
Polm |
T |
C |
11: 5,781,695 (GRCm39) |
E267G |
probably benign |
Het |
Pomgnt1 |
A |
T |
4: 116,015,106 (GRCm39) |
K519M |
probably damaging |
Het |
Ralyl |
G |
A |
3: 14,104,850 (GRCm39) |
|
probably null |
Het |
Rhbdd3 |
C |
T |
11: 5,055,832 (GRCm39) |
T338I |
possibly damaging |
Het |
Rnf31 |
T |
C |
14: 55,830,534 (GRCm39) |
|
probably null |
Het |
Slc51a |
A |
T |
16: 32,297,601 (GRCm39) |
S99T |
probably benign |
Het |
Sorbs1 |
A |
T |
19: 40,285,032 (GRCm39) |
L700H |
probably damaging |
Het |
Tdrd7 |
G |
A |
4: 46,025,684 (GRCm39) |
V835I |
probably benign |
Het |
Tmcc3 |
T |
C |
10: 94,414,397 (GRCm39) |
V64A |
probably benign |
Het |
Tmprss5 |
A |
G |
9: 49,020,391 (GRCm39) |
S140G |
probably benign |
Het |
Tspan11 |
G |
T |
6: 127,900,629 (GRCm39) |
V67F |
possibly damaging |
Het |
Usp42 |
T |
C |
5: 143,707,426 (GRCm39) |
T252A |
probably damaging |
Het |
Vmn2r97 |
A |
T |
17: 19,149,326 (GRCm39) |
E238V |
probably damaging |
Het |
Wdpcp |
T |
A |
11: 21,661,486 (GRCm39) |
W253R |
probably benign |
Het |
Zdhhc23 |
A |
T |
16: 43,789,663 (GRCm39) |
V375E |
probably damaging |
Het |
Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
Het |
Zmym1 |
A |
T |
4: 126,941,496 (GRCm39) |
M964K |
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 |
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 |
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'- GGCTGCTATTTCCAGAACATG -3'
(R):5'- GAATCATTCTCTGAGCCACAGG -3'
Sequencing Primer
(F):5'- AAATTGCCCACCTCCAATTCTC -3'
(R):5'- AGGCATCCCTGTCCAGTC -3'
|
Posted On |
2019-12-20 |