Incidental Mutation 'R8273:Atp13a4'
| ID |
637872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
4631413J11Rik, 9330174J19Rik |
| MMRRC Submission |
067696-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8273 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
29214671-29363682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 29290720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 243
(Y243S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060987
(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: Y243S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: Y243S
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: Y243S
| 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 damaging
Transcript: ENSMUST00000182627
AA Change: Y243S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: Y243S
| 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 |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,211 (GRCm39) |
V467I |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,575,668 (GRCm39) |
G167E |
probably damaging |
Het |
| Ano2 |
G |
A |
6: 125,959,683 (GRCm39) |
V648M |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,112,990 (GRCm39) |
C954R |
unknown |
Het |
| Bend3 |
T |
G |
10: 43,386,899 (GRCm39) |
C431G |
probably damaging |
Het |
| Ccdc57 |
G |
A |
11: 120,812,599 (GRCm39) |
R52C |
probably damaging |
Het |
| Ccl22 |
T |
C |
8: 95,473,619 (GRCm39) |
W55R |
probably damaging |
Het |
| Ccnk |
A |
G |
12: 108,152,758 (GRCm39) |
Y25C |
probably damaging |
Het |
| Cntnap5a |
C |
T |
1: 116,499,271 (GRCm39) |
P1174S |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,946,546 (GRCm39) |
|
probably null |
Het |
| Copg2 |
C |
T |
6: 30,793,061 (GRCm39) |
V425M |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,172,664 (GRCm39) |
T265S |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,053,582 (GRCm39) |
E2936G |
probably benign |
Het |
| Dync2i2 |
A |
T |
2: 29,921,903 (GRCm39) |
V486D |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,499,096 (GRCm39) |
D324G |
probably benign |
Het |
| F11 |
T |
A |
8: 45,701,644 (GRCm39) |
H363L |
possibly damaging |
Het |
| F7 |
T |
C |
8: 13,083,981 (GRCm39) |
V222A |
probably benign |
Het |
| Fars2 |
A |
G |
13: 36,594,093 (GRCm39) |
D366G |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Flot2 |
A |
G |
11: 77,950,021 (GRCm39) |
I417V |
probably benign |
Het |
| Fmnl1 |
T |
C |
11: 103,077,525 (GRCm39) |
F295S |
probably damaging |
Het |
| Gpr89 |
G |
A |
3: 96,812,505 (GRCm39) |
T12I |
probably benign |
Het |
| Gprc6a |
T |
C |
10: 51,507,370 (GRCm39) |
D53G |
probably benign |
Het |
| Gtf2e1 |
T |
A |
16: 37,343,213 (GRCm39) |
I184F |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,454,474 (GRCm39) |
R152H |
probably benign |
Het |
| Haus3 |
A |
G |
5: 34,311,435 (GRCm39) |
F532L |
probably benign |
Het |
| Inpp4a |
A |
G |
1: 37,407,520 (GRCm39) |
|
probably benign |
Het |
| Klc4 |
A |
T |
17: 46,953,080 (GRCm39) |
L150Q |
possibly damaging |
Het |
| Lzts3 |
C |
T |
2: 130,476,801 (GRCm39) |
R549Q |
possibly damaging |
Het |
| Mbd5 |
T |
A |
2: 49,168,891 (GRCm39) |
L1354Q |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,043,815 (GRCm39) |
D801G |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,795 (GRCm39) |
T1411S |
unknown |
Het |
| Nalcn |
C |
A |
14: 123,554,436 (GRCm39) |
G954C |
probably damaging |
Het |
| Nlrp9b |
G |
A |
7: 19,757,986 (GRCm39) |
E408K |
possibly damaging |
Het |
| Oaz3 |
A |
G |
3: 94,342,434 (GRCm39) |
L119P |
probably damaging |
Het |
| Or2w6 |
A |
G |
13: 21,843,377 (GRCm39) |
F39L |
probably damaging |
Het |
| Pcdhgb5 |
T |
C |
18: 37,865,240 (GRCm39) |
V345A |
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 59,280,009 (GRCm39) |
Y758N |
probably benign |
Het |
| Pea15a |
T |
A |
1: 172,026,812 (GRCm39) |
H65L |
probably damaging |
Het |
| Pigm |
T |
A |
1: 172,205,524 (GRCm39) |
I420N |
probably benign |
Het |
| Pign |
A |
G |
1: 105,516,803 (GRCm39) |
F580L |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,607,644 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,649,105 (GRCm39) |
N1225D |
probably benign |
Het |
| Rbbp6 |
G |
A |
7: 122,589,547 (GRCm39) |
D412N |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rtl1 |
A |
G |
12: 109,559,149 (GRCm39) |
Y897H |
possibly damaging |
Het |
| Scube2 |
A |
T |
7: 109,408,383 (GRCm39) |
F688Y |
probably benign |
Het |
| Sgo2b |
C |
A |
8: 64,377,735 (GRCm39) |
R1166L |
unknown |
Het |
| Slc12a2 |
G |
T |
18: 58,047,338 (GRCm39) |
|
probably benign |
Het |
| Smpdl3b |
T |
A |
4: 132,465,712 (GRCm39) |
H236L |
probably damaging |
Het |
| Spata9 |
C |
A |
13: 76,125,666 (GRCm39) |
|
probably benign |
Het |
| St6galnac4 |
A |
G |
2: 32,477,667 (GRCm39) |
|
probably benign |
Het |
| Stc2 |
T |
A |
11: 31,319,777 (GRCm39) |
N29I |
possibly damaging |
Het |
| Sun5 |
A |
T |
2: 153,707,243 (GRCm39) |
M145K |
possibly damaging |
Het |
| Tas2r106 |
T |
C |
6: 131,655,018 (GRCm39) |
I278V |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,727,975 (GRCm39) |
I565M |
probably damaging |
Het |
| Ttl |
A |
G |
2: 128,910,853 (GRCm39) |
K79R |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,737,721 (GRCm39) |
Y4319N |
unknown |
Het |
| Usp28 |
T |
C |
9: 48,938,182 (GRCm39) |
L584P |
probably damaging |
Het |
| Wdr27 |
A |
G |
17: 15,049,838 (GRCm39) |
S777P |
probably benign |
Het |
| Wee1 |
A |
G |
7: 109,723,691 (GRCm39) |
D202G |
probably benign |
Het |
| Wnt5a |
T |
C |
14: 28,244,562 (GRCm39) |
Y270H |
probably damaging |
Het |
| Zfp318 |
G |
A |
17: 46,723,301 (GRCm39) |
C1768Y |
probably damaging |
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 |
|
R7229:Atp13a4
|
UTSW |
16 |
29,239,723 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
|
|
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'- GTCAAGGAACCCCTAGTAAGC -3'
(R):5'- CCATGTGTCAAGCCCAAAAG -3'
Sequencing Primer
(F):5'- AGAGGATCCTCCATCTTCTGAAGG -3'
(R):5'- TGTCAAGCCCAAAAGCCATTCTTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation