Incidental Mutation 'R7229:Atp13a4'
| ID |
562383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
4631413J11Rik, 9330174J19Rik |
| MMRRC Submission |
045301-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7229 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
29214671-29363682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29239723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 830
(S830P)
|
| 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 benign
Transcript: ENSMUST00000039090
AA Change: S830P
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: S830P
| 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 benign
Transcript: ENSMUST00000057018
|
| SMART Domains |
Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182573
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182627
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (73/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,832,809 (GRCm39) |
E122G |
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,682,647 (GRCm39) |
Y880H |
probably damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,687,410 (GRCm39) |
Q696L |
probably benign |
Het |
| Brox |
G |
A |
1: 183,073,523 (GRCm39) |
R85* |
probably null |
Het |
| C130073F10Rik |
T |
C |
4: 101,747,439 (GRCm39) |
I197V |
probably benign |
Het |
| Cand2 |
G |
A |
6: 115,768,153 (GRCm39) |
V433M |
probably damaging |
Het |
| Cep83 |
A |
G |
10: 94,555,527 (GRCm39) |
K74E |
probably damaging |
Het |
| Chrng |
A |
T |
1: 87,137,166 (GRCm39) |
T275S |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,789,869 (GRCm39) |
D489G |
probably damaging |
Het |
| Cmtr1 |
A |
G |
17: 29,914,398 (GRCm39) |
|
probably null |
Het |
| Cnga1 |
T |
C |
5: 72,775,592 (GRCm39) |
N43S |
probably benign |
Het |
| Cog8 |
A |
T |
8: 107,782,984 (GRCm39) |
C102S |
probably damaging |
Het |
| Cpsf3 |
G |
A |
12: 21,346,738 (GRCm39) |
|
probably null |
Het |
| Cyp26b1 |
G |
A |
6: 84,554,132 (GRCm39) |
Q162* |
probably null |
Het |
| Elmod3 |
A |
G |
6: 72,571,736 (GRCm39) |
F14S |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,516,354 (GRCm39) |
S9P |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,741,517 (GRCm39) |
Q238R |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,884,676 (GRCm39) |
L654S |
unknown |
Het |
| Foxp1 |
A |
T |
6: 98,912,373 (GRCm39) |
L580Q |
unknown |
Het |
| Galr1 |
A |
G |
18: 82,423,789 (GRCm39) |
S163P |
probably damaging |
Het |
| Ganc |
T |
C |
2: 120,258,256 (GRCm39) |
F201L |
possibly damaging |
Het |
| Gin1 |
T |
C |
1: 97,712,876 (GRCm39) |
F310L |
probably benign |
Het |
| Grik2 |
A |
T |
10: 48,977,512 (GRCm39) |
|
probably null |
Het |
| Haus1 |
A |
T |
18: 77,851,834 (GRCm39) |
F94I |
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,760,682 (GRCm39) |
Y409C |
unknown |
Het |
| Hspa1l |
A |
G |
17: 35,196,231 (GRCm39) |
K90R |
probably benign |
Het |
| Icam5 |
T |
C |
9: 20,948,297 (GRCm39) |
S702P |
possibly damaging |
Het |
| Ifnar1 |
A |
G |
16: 91,296,444 (GRCm39) |
H315R |
probably benign |
Het |
| Klra9 |
T |
C |
6: 130,168,224 (GRCm39) |
H14R |
probably damaging |
Het |
| Krt78 |
A |
G |
15: 101,855,829 (GRCm39) |
Y661H |
probably benign |
Het |
| Krtap11-1 |
T |
C |
16: 89,367,813 (GRCm39) |
T69A |
possibly damaging |
Het |
| L3mbtl3 |
C |
A |
10: 26,168,560 (GRCm39) |
S598I |
unknown |
Het |
| Lama1 |
A |
T |
17: 68,059,441 (GRCm39) |
D608V |
|
Het |
| Lrrc55 |
G |
A |
2: 85,026,784 (GRCm39) |
T80I |
probably damaging |
Het |
| Lyst |
A |
T |
13: 13,818,094 (GRCm39) |
T1255S |
probably benign |
Het |
| Magi2 |
T |
C |
5: 20,670,586 (GRCm39) |
V310A |
probably damaging |
Het |
| Med23 |
C |
A |
10: 24,777,902 (GRCm39) |
A750D |
probably benign |
Het |
| Mmp2 |
G |
A |
8: 93,558,414 (GRCm39) |
R161Q |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,387,321 (GRCm39) |
I733F |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,552,961 (GRCm39) |
F1090L |
possibly damaging |
Het |
| Or2ag2b |
T |
G |
7: 106,418,202 (GRCm39) |
V304G |
probably damaging |
Het |
| Otulinl |
G |
A |
15: 27,658,273 (GRCm39) |
T199M |
probably benign |
Het |
| Pafah1b1 |
A |
G |
11: 74,573,104 (GRCm39) |
I320T |
probably damaging |
Het |
| Pcdhb1 |
T |
A |
18: 37,399,740 (GRCm39) |
Y564N |
probably damaging |
Het |
| Pear1 |
A |
G |
3: 87,657,596 (GRCm39) |
S988P |
probably benign |
Het |
| Pgam2 |
A |
C |
11: 5,753,013 (GRCm39) |
V194G |
probably damaging |
Het |
| Plvap |
A |
T |
8: 71,964,221 (GRCm39) |
I47N |
probably damaging |
Het |
| Prdx6 |
A |
T |
1: 161,074,867 (GRCm39) |
L71H |
probably damaging |
Het |
| Psmb11 |
G |
A |
14: 54,863,408 (GRCm39) |
V209M |
probably damaging |
Het |
| Ptprn2 |
G |
A |
12: 117,190,845 (GRCm39) |
|
probably null |
Het |
| Rcn2 |
T |
A |
9: 55,964,763 (GRCm39) |
N240K |
probably benign |
Het |
| Rsad2 |
A |
T |
12: 26,504,122 (GRCm39) |
Y136N |
probably damaging |
Het |
| Slc12a4 |
T |
G |
8: 106,673,369 (GRCm39) |
Q734P |
probably benign |
Het |
| Smarcc2 |
T |
A |
10: 128,323,917 (GRCm39) |
M1085K |
unknown |
Het |
| Smg1 |
A |
T |
7: 117,776,178 (GRCm39) |
C1371S |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,938,585 (GRCm39) |
F456L |
probably damaging |
Het |
| Srsf10 |
C |
T |
4: 135,583,528 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,673,931 (GRCm39) |
Y4C |
probably damaging |
Het |
| Tdrd12 |
T |
A |
7: 35,179,705 (GRCm39) |
D881V |
unknown |
Het |
| Tmem171 |
T |
C |
13: 98,829,133 (GRCm39) |
T6A |
probably benign |
Het |
| Tmem220 |
T |
C |
11: 66,916,989 (GRCm39) |
L55P |
unknown |
Het |
| Ttn |
G |
T |
2: 76,677,125 (GRCm39) |
P11037Q |
unknown |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,692,084 (GRCm39) |
S849P |
probably benign |
Het |
| Vcan |
G |
A |
13: 89,853,389 (GRCm39) |
P524S |
possibly damaging |
Het |
| Vmn1r18 |
A |
G |
6: 57,367,083 (GRCm39) |
M157T |
probably benign |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,225 (GRCm39) |
C711S |
possibly damaging |
Het |
| Wasf3 |
C |
T |
5: 146,392,463 (GRCm39) |
R178C |
probably damaging |
Het |
| Wdr76 |
G |
A |
2: 121,359,401 (GRCm39) |
V231I |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,355,895 (GRCm39) |
N3552I |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,088,969 (GRCm39) |
T933A |
probably benign |
Het |
| Zmynd8 |
A |
G |
2: 165,699,973 (GRCm39) |
|
probably null |
Het |
| Zranb3 |
A |
T |
1: 127,968,630 (GRCm39) |
I95K |
probably benign |
Het |
|
| Other mutations in Atp13a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00563:Atp13a4
|
APN |
16 |
29,222,596 (GRCm39) |
splice site |
probably benign |
|
|
IGL01577:Atp13a4
|
APN |
16 |
29,260,102 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01834:Atp13a4
|
APN |
16 |
29,234,595 (GRCm39) |
splice site |
probably benign |
|
|
IGL02165:Atp13a4
|
APN |
16 |
29,252,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02194:Atp13a4
|
APN |
16 |
29,275,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02322:Atp13a4
|
APN |
16 |
29,258,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02553:Atp13a4
|
APN |
16 |
29,241,521 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02821:Atp13a4
|
APN |
16 |
29,260,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03349:Atp13a4
|
APN |
16 |
29,275,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
G5030:Atp13a4
|
UTSW |
16 |
29,274,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Atp13a4
|
UTSW |
16 |
29,274,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Atp13a4
|
UTSW |
16 |
29,240,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0278:Atp13a4
|
UTSW |
16 |
29,273,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1263:Atp13a4
|
UTSW |
16 |
29,290,771 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1378:Atp13a4
|
UTSW |
16 |
29,239,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1575:Atp13a4
|
UTSW |
16 |
29,228,528 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1720:Atp13a4
|
UTSW |
16 |
29,227,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1759:Atp13a4
|
UTSW |
16 |
29,275,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1967:Atp13a4
|
UTSW |
16 |
29,298,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2030:Atp13a4
|
UTSW |
16 |
29,241,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Atp13a4
|
UTSW |
16 |
29,260,102 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3409:Atp13a4
|
UTSW |
16 |
29,232,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3410:Atp13a4
|
UTSW |
16 |
29,232,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4032:Atp13a4
|
UTSW |
16 |
29,237,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4163:Atp13a4
|
UTSW |
16 |
29,360,068 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4652:Atp13a4
|
UTSW |
16 |
29,271,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Atp13a4
|
UTSW |
16 |
29,239,653 (GRCm39) |
intron |
probably benign |
|
|
R4795:Atp13a4
|
UTSW |
16 |
29,308,826 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4898:Atp13a4
|
UTSW |
16 |
29,227,779 (GRCm39) |
nonsense |
probably null |
|
|
R4996:Atp13a4
|
UTSW |
16 |
29,290,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Atp13a4
|
UTSW |
16 |
29,228,686 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5259:Atp13a4
|
UTSW |
16 |
29,275,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5395:Atp13a4
|
UTSW |
16 |
29,275,422 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5395:Atp13a4
|
UTSW |
16 |
29,239,706 (GRCm39) |
nonsense |
probably null |
|
|
R5640:Atp13a4
|
UTSW |
16 |
29,234,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5809:Atp13a4
|
UTSW |
16 |
29,252,805 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5856:Atp13a4
|
UTSW |
16 |
29,252,805 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5912:Atp13a4
|
UTSW |
16 |
29,275,389 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6282:Atp13a4
|
UTSW |
16 |
29,252,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6404:Atp13a4
|
UTSW |
16 |
29,290,719 (GRCm39) |
nonsense |
probably null |
|
|
R6497:Atp13a4
|
UTSW |
16 |
29,298,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6577:Atp13a4
|
UTSW |
16 |
29,298,659 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6806:Atp13a4
|
UTSW |
16 |
29,288,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Atp13a4
|
UTSW |
16 |
29,260,014 (GRCm39) |
missense |
|
|
|
R7493:Atp13a4
|
UTSW |
16 |
29,290,774 (GRCm39) |
missense |
|
|
|
R7712:Atp13a4
|
UTSW |
16 |
29,278,305 (GRCm39) |
missense |
|
|
|
R7739:Atp13a4
|
UTSW |
16 |
29,275,419 (GRCm39) |
missense |
|
|
|
R7897:Atp13a4
|
UTSW |
16 |
29,215,284 (GRCm39) |
missense |
|
|
|
R7950:Atp13a4
|
UTSW |
16 |
29,268,735 (GRCm39) |
missense |
|
|
|
R8217:Atp13a4
|
UTSW |
16 |
29,222,619 (GRCm39) |
missense |
|
|
|
R8227:Atp13a4
|
UTSW |
16 |
29,222,663 (GRCm39) |
missense |
|
|
|
R8273:Atp13a4
|
UTSW |
16 |
29,290,720 (GRCm39) |
missense |
|
|
|
R8488:Atp13a4
|
UTSW |
16 |
29,236,654 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8508:Atp13a4
|
UTSW |
16 |
29,273,587 (GRCm39) |
nonsense |
probably null |
|
|
R8773:Atp13a4
|
UTSW |
16 |
29,260,398 (GRCm39) |
missense |
|
|
|
R8921:Atp13a4
|
UTSW |
16 |
29,273,592 (GRCm39) |
missense |
|
|
|
R8940:Atp13a4
|
UTSW |
16 |
29,273,508 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9056:Atp13a4
|
UTSW |
16 |
29,290,706 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9272:Atp13a4
|
UTSW |
16 |
29,268,797 (GRCm39) |
missense |
|
|
|
R9292:Atp13a4
|
UTSW |
16 |
29,241,500 (GRCm39) |
missense |
|
|
|
R9415:Atp13a4
|
UTSW |
16 |
29,227,821 (GRCm39) |
missense |
|
|
|
R9453:Atp13a4
|
UTSW |
16 |
29,239,659 (GRCm39) |
missense |
unknown |
|
|
R9497:Atp13a4
|
UTSW |
16 |
29,288,130 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9541:Atp13a4
|
UTSW |
16 |
29,241,544 (GRCm39) |
missense |
|
|
|
R9614:Atp13a4
|
UTSW |
16 |
29,260,398 (GRCm39) |
missense |
|
|
|
R9622:Atp13a4
|
UTSW |
16 |
29,239,277 (GRCm39) |
missense |
|
|
|
R9727:Atp13a4
|
UTSW |
16 |
29,228,589 (GRCm39) |
missense |
|
|
|
Z1176:Atp13a4
|
UTSW |
16 |
29,241,405 (GRCm39) |
missense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAAAGTTTGTTCCCAGTGAAATG -3'
(R):5'- CTGACCATCCACATTCCAGG -3'
Sequencing Primer
(F):5'- GTTTGTTCCCAGTGAAATGATTCC -3'
(R):5'- ATTCCAGGGCTCCCTAAGTTTGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation