Incidental Mutation 'IGL02165:Atp13a4'
| ID |
282676 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
9330174J19Rik, 4631413J11Rik |
| Accession Numbers |
Genbank: NM_001164612, NM_172613, NM_001164613 |
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02165
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
29395853-29544864 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29434010 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 706
(E706G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039090]
[ENSMUST00000057018]
[ENSMUST00000182013]
[ENSMUST00000182627]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039090
AA Change: E706G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: E706G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
143 |
8.4e-31 |
PFAM |
|
Cation_ATPase_N
|
147 |
223 |
1.09e-1 |
SMART |
|
Pfam:E1-E2_ATPase
|
229 |
476 |
1.7e-36 |
PFAM |
|
Pfam:Hydrolase
|
481 |
769 |
3.9e-11 |
PFAM |
|
Pfam:HAD
|
484 |
787 |
4.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
574 |
637 |
1.2e-9 |
PFAM |
|
transmembrane domain
|
824 |
846 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057018
AA Change: E687G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: E687G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
142 |
9.6e-34 |
PFAM |
|
Cation_ATPase_N
|
147 |
223 |
1.09e-1 |
SMART |
|
Pfam:E1-E2_ATPase
|
228 |
476 |
1.6e-34 |
PFAM |
|
Pfam:Hydrolase
|
481 |
767 |
1.1e-10 |
PFAM |
|
Pfam:HAD
|
484 |
858 |
3.3e-23 |
PFAM |
|
Pfam:Cation_ATPase
|
573 |
637 |
4.9e-8 |
PFAM |
|
transmembrane domain
|
902 |
924 |
N/A |
INTRINSIC |
|
transmembrane domain
|
934 |
951 |
N/A |
INTRINSIC |
|
transmembrane domain
|
972 |
994 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1023 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1040 |
1057 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1070 |
1092 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1107 |
1126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182013
|
| SMART Domains |
Protein: ENSMUSP00000138583
Gene: ENSMUSG00000038094
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
84 |
4.2e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182168
AA Change: E68G
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182357
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182573
AA Change: E344G
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182627
AA Change: E706G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: E706G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
143 |
2.1e-29 |
PFAM |
|
Cation_ATPase_N
|
147 |
223 |
1.09e-1 |
SMART |
|
Pfam:E1-E2_ATPase
|
229 |
476 |
3.9e-35 |
PFAM |
|
Pfam:Hydrolase
|
481 |
861 |
4.2e-16 |
PFAM |
|
Pfam:HAD
|
484 |
858 |
1.9e-23 |
PFAM |
|
Pfam:Hydrolase_like2
|
574 |
637 |
2.2e-8 |
PFAM |
|
transmembrane domain
|
902 |
924 |
N/A |
INTRINSIC |
|
transmembrane domain
|
934 |
951 |
N/A |
INTRINSIC |
|
transmembrane domain
|
972 |
994 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1023 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1040 |
1057 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1070 |
1092 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1107 |
1126 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
A |
19: 31,927,186 (GRCm38) |
M199K |
possibly damaging |
Het |
| Abo |
C |
A |
2: 26,843,429 (GRCm38) |
V255L |
probably damaging |
Het |
| Alas1 |
A |
T |
9: 106,238,783 (GRCm38) |
M344K |
probably damaging |
Het |
| Ap1m1 |
A |
G |
8: 72,249,809 (GRCm38) |
I118V |
probably benign |
Het |
| Ap5m1 |
A |
T |
14: 49,078,728 (GRCm38) |
I252F |
possibly damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,646,220 (GRCm38) |
R886H |
probably damaging |
Het |
| Baz2a |
C |
A |
10: 128,119,349 (GRCm38) |
A775E |
probably benign |
Het |
| C3 |
A |
T |
17: 57,225,092 (GRCm38) |
F210I |
probably benign |
Het |
| Casq1 |
A |
G |
1: 172,213,381 (GRCm38) |
L280P |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 78,922,169 (GRCm38) |
F919L |
probably damaging |
Het |
| Dclre1c |
T |
A |
2: 3,450,381 (GRCm38) |
|
probably benign |
Het |
| Dsc3 |
T |
G |
18: 19,983,652 (GRCm38) |
M276L |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,851,747 (GRCm38) |
|
probably benign |
Het |
| Elfn2 |
T |
A |
15: 78,673,418 (GRCm38) |
T310S |
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,641,391 (GRCm38) |
K1472R |
probably benign |
Het |
| Fbxl2 |
T |
C |
9: 114,018,031 (GRCm38) |
D8G |
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,998,865 (GRCm38) |
M159K |
probably benign |
Het |
| Gm10260 |
T |
G |
13: 97,760,140 (GRCm38) |
K150T |
probably benign |
Het |
| Gm28048 |
A |
T |
11: 22,982,072 (GRCm38) |
|
probably benign |
Het |
| Hars2 |
T |
A |
18: 36,783,394 (GRCm38) |
M1K |
probably null |
Het |
| Hk1 |
T |
C |
10: 62,281,888 (GRCm38) |
T619A |
probably damaging |
Het |
| Ifi44 |
C |
T |
3: 151,749,430 (GRCm38) |
V53M |
probably damaging |
Het |
| Ippk |
T |
A |
13: 49,446,535 (GRCm38) |
V339D |
possibly damaging |
Het |
| Kcnma1 |
G |
T |
14: 23,336,967 (GRCm38) |
N875K |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,415,290 (GRCm38) |
V991E |
probably damaging |
Het |
| Larp6 |
A |
G |
9: 60,713,312 (GRCm38) |
E36G |
probably benign |
Het |
| Lonp2 |
A |
T |
8: 86,709,026 (GRCm38) |
D210V |
probably damaging |
Het |
| Lrrc4c |
G |
A |
2: 97,629,033 (GRCm38) |
M1I |
probably null |
Het |
| Mmp2 |
A |
G |
8: 92,833,219 (GRCm38) |
K270R |
probably null |
Het |
| Nexmif |
C |
T |
X: 104,084,754 (GRCm38) |
V1186I |
probably benign |
Het |
| Olfr54 |
A |
T |
11: 51,027,643 (GRCm38) |
I214F |
probably benign |
Het |
| Olfr744 |
A |
G |
14: 50,619,011 (GRCm38) |
Y263C |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,555,677 (GRCm38) |
L763P |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,538,060 (GRCm38) |
F644L |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,214,640 (GRCm38) |
S1377P |
probably damaging |
Het |
| Rttn |
A |
G |
18: 89,043,041 (GRCm38) |
D1111G |
probably benign |
Het |
| Slc27a5 |
A |
G |
7: 12,994,948 (GRCm38) |
V130A |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 83,017,196 (GRCm38) |
R174G |
probably benign |
Het |
| Slitrk6 |
G |
A |
14: 110,751,817 (GRCm38) |
P153S |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,654,072 (GRCm38) |
I388T |
probably benign |
Het |
| Star |
A |
T |
8: 25,812,815 (GRCm38) |
T262S |
possibly damaging |
Het |
| Strn |
A |
T |
17: 78,687,620 (GRCm38) |
W2R |
probably damaging |
Het |
| Tnmd |
T |
C |
X: 133,862,952 (GRCm38) |
S172P |
probably damaging |
Het |
| Togaram2 |
A |
G |
17: 71,697,866 (GRCm38) |
K305R |
probably benign |
Het |
| Trhde |
C |
A |
10: 114,592,161 (GRCm38) |
W410L |
probably damaging |
Het |
| Trim5 |
C |
T |
7: 104,279,359 (GRCm38) |
R125Q |
probably damaging |
Het |
| Unc45b |
C |
T |
11: 82,940,181 (GRCm38) |
|
probably benign |
Het |
| Vmn1r80 |
T |
A |
7: 12,193,452 (GRCm38) |
M163K |
probably benign |
Het |
| Wdr34 |
T |
C |
2: 30,032,160 (GRCm38) |
T430A |
probably benign |
Het |
| Wnk4 |
C |
A |
11: 101,275,291 (GRCm38) |
|
probably benign |
Het |
| Zfp277 |
T |
A |
12: 40,315,803 (GRCm38) |
I430F |
possibly damaging |
Het |
| Zfp566 |
A |
T |
7: 30,077,830 (GRCm38) |
C309S |
probably damaging |
Het |
| Zfp740 |
T |
G |
15: 102,212,674 (GRCm38) |
F141V |
possibly damaging |
Het |
| Zfp87 |
T |
A |
13: 67,517,870 (GRCm38) |
I158F |
probably damaging |
Het |
| Zswim3 |
C |
A |
2: 164,821,115 (GRCm38) |
A505D |
possibly damaging |
Het |
|
| Other mutations in Atp13a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00563:Atp13a4
|
APN |
16 |
29,403,778 (GRCm38) |
splice site |
probably benign |
|
|
IGL01577:Atp13a4
|
APN |
16 |
29,441,284 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL01834:Atp13a4
|
APN |
16 |
29,415,777 (GRCm38) |
splice site |
probably benign |
|
|
IGL02194:Atp13a4
|
APN |
16 |
29,456,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02322:Atp13a4
|
APN |
16 |
29,440,102 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02553:Atp13a4
|
APN |
16 |
29,422,703 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02821:Atp13a4
|
APN |
16 |
29,441,307 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03349:Atp13a4
|
APN |
16 |
29,456,671 (GRCm38) |
missense |
probably benign |
0.01 |
|
G5030:Atp13a4
|
UTSW |
16 |
29,455,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0091:Atp13a4
|
UTSW |
16 |
29,455,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0100:Atp13a4
|
UTSW |
16 |
29,421,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0278:Atp13a4
|
UTSW |
16 |
29,454,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1263:Atp13a4
|
UTSW |
16 |
29,471,953 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1378:Atp13a4
|
UTSW |
16 |
29,420,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1575:Atp13a4
|
UTSW |
16 |
29,409,710 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1720:Atp13a4
|
UTSW |
16 |
29,408,928 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1759:Atp13a4
|
UTSW |
16 |
29,456,611 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1967:Atp13a4
|
UTSW |
16 |
29,479,854 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2030:Atp13a4
|
UTSW |
16 |
29,422,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2113:Atp13a4
|
UTSW |
16 |
29,441,284 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R3409:Atp13a4
|
UTSW |
16 |
29,413,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3410:Atp13a4
|
UTSW |
16 |
29,413,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4032:Atp13a4
|
UTSW |
16 |
29,418,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4163:Atp13a4
|
UTSW |
16 |
29,541,250 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4652:Atp13a4
|
UTSW |
16 |
29,452,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4772:Atp13a4
|
UTSW |
16 |
29,420,835 (GRCm38) |
intron |
probably benign |
|
|
R4795:Atp13a4
|
UTSW |
16 |
29,490,008 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4898:Atp13a4
|
UTSW |
16 |
29,408,961 (GRCm38) |
nonsense |
probably null |
|
|
R4996:Atp13a4
|
UTSW |
16 |
29,472,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5112:Atp13a4
|
UTSW |
16 |
29,409,868 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5259:Atp13a4
|
UTSW |
16 |
29,456,610 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5395:Atp13a4
|
UTSW |
16 |
29,456,604 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5395:Atp13a4
|
UTSW |
16 |
29,420,888 (GRCm38) |
nonsense |
probably null |
|
|
R5640:Atp13a4
|
UTSW |
16 |
29,415,831 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5809:Atp13a4
|
UTSW |
16 |
29,433,987 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5856:Atp13a4
|
UTSW |
16 |
29,433,987 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5912:Atp13a4
|
UTSW |
16 |
29,456,571 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6282:Atp13a4
|
UTSW |
16 |
29,434,004 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6404:Atp13a4
|
UTSW |
16 |
29,471,901 (GRCm38) |
nonsense |
probably null |
|
|
R6497:Atp13a4
|
UTSW |
16 |
29,479,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6577:Atp13a4
|
UTSW |
16 |
29,479,841 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6806:Atp13a4
|
UTSW |
16 |
29,469,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7229:Atp13a4
|
UTSW |
16 |
29,420,905 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7438:Atp13a4
|
UTSW |
16 |
29,441,196 (GRCm38) |
missense |
|
|
|
R7493:Atp13a4
|
UTSW |
16 |
29,471,956 (GRCm38) |
missense |
|
|
|
R7712:Atp13a4
|
UTSW |
16 |
29,459,487 (GRCm38) |
missense |
|
|
|
R7739:Atp13a4
|
UTSW |
16 |
29,456,601 (GRCm38) |
missense |
|
|
|
R7897:Atp13a4
|
UTSW |
16 |
29,396,466 (GRCm38) |
missense |
|
|
|
R7950:Atp13a4
|
UTSW |
16 |
29,449,917 (GRCm38) |
missense |
|
|
|
R8217:Atp13a4
|
UTSW |
16 |
29,403,801 (GRCm38) |
missense |
|
|
|
R8227:Atp13a4
|
UTSW |
16 |
29,403,845 (GRCm38) |
missense |
|
|
|
R8273:Atp13a4
|
UTSW |
16 |
29,471,902 (GRCm38) |
missense |
|
|
|
R8488:Atp13a4
|
UTSW |
16 |
29,417,836 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R8508:Atp13a4
|
UTSW |
16 |
29,454,769 (GRCm38) |
nonsense |
probably null |
|
|
R8773:Atp13a4
|
UTSW |
16 |
29,441,580 (GRCm38) |
missense |
|
|
|
R8921:Atp13a4
|
UTSW |
16 |
29,454,774 (GRCm38) |
missense |
|
|
|
R8940:Atp13a4
|
UTSW |
16 |
29,454,690 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9056:Atp13a4
|
UTSW |
16 |
29,471,888 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9272:Atp13a4
|
UTSW |
16 |
29,449,979 (GRCm38) |
missense |
|
|
|
R9292:Atp13a4
|
UTSW |
16 |
29,422,682 (GRCm38) |
missense |
|
|
|
R9415:Atp13a4
|
UTSW |
16 |
29,409,003 (GRCm38) |
missense |
|
|
|
R9453:Atp13a4
|
UTSW |
16 |
29,420,841 (GRCm38) |
missense |
unknown |
|
|
R9497:Atp13a4
|
UTSW |
16 |
29,469,312 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9541:Atp13a4
|
UTSW |
16 |
29,422,726 (GRCm38) |
missense |
|
|
|
R9614:Atp13a4
|
UTSW |
16 |
29,441,580 (GRCm38) |
missense |
|
|
|
R9622:Atp13a4
|
UTSW |
16 |
29,420,459 (GRCm38) |
missense |
|
|
|
R9727:Atp13a4
|
UTSW |
16 |
29,409,771 (GRCm38) |
missense |
|
|
|
Z1176:Atp13a4
|
UTSW |
16 |
29,422,587 (GRCm38) |
missense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation