Incidental Mutation 'R7493:Atp13a4'
| ID |
580962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
4631413J11Rik, 9330174J19Rik |
| MMRRC Submission |
045567-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7493 (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 A
at 29290774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 225
(E225V)
|
| 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: E225V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: E225V
| 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: E225V
| 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: E225V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: E225V
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,385,257 (GRCm39) |
L236P |
possibly damaging |
Het |
| Abca7 |
T |
A |
10: 79,837,896 (GRCm39) |
D488E |
probably damaging |
Het |
| Adora2a |
A |
G |
10: 75,169,423 (GRCm39) |
K296E |
possibly damaging |
Het |
| Aopep |
A |
G |
13: 63,163,345 (GRCm39) |
D122G |
probably benign |
Het |
| Bpifb2 |
A |
G |
2: 153,731,397 (GRCm39) |
M258V |
possibly damaging |
Het |
| Brd2 |
G |
A |
17: 34,341,231 (GRCm39) |
|
probably benign |
Het |
| Btaf1 |
G |
T |
19: 36,987,005 (GRCm39) |
V1700F |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,076,433 (GRCm39) |
I797V |
|
Het |
| Ccdc148 |
T |
G |
2: 58,899,160 (GRCm39) |
E71A |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,354,483 (GRCm39) |
L1074* |
probably null |
Het |
| Ccne2 |
A |
G |
4: 11,198,772 (GRCm39) |
D215G |
probably damaging |
Het |
| Cers6 |
T |
A |
2: 68,692,151 (GRCm39) |
|
probably null |
Het |
| Copz1 |
A |
G |
15: 103,204,971 (GRCm39) |
E110G |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,215,512 (GRCm39) |
D682V |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,164,768 (GRCm39) |
C1180S |
probably damaging |
Het |
| Cyren |
A |
T |
6: 34,851,593 (GRCm39) |
L114Q |
probably damaging |
Het |
| Echdc3 |
A |
T |
2: 6,194,368 (GRCm39) |
L229Q |
probably damaging |
Het |
| Etfb |
C |
T |
7: 43,104,000 (GRCm39) |
P145L |
probably damaging |
Het |
| Exoc3l2 |
G |
T |
7: 19,203,813 (GRCm39) |
R135L |
|
Het |
| Fam83a |
G |
A |
15: 57,849,569 (GRCm39) |
A38T |
probably damaging |
Het |
| G6pc2 |
T |
C |
2: 69,053,344 (GRCm39) |
Y133H |
probably benign |
Het |
| Gfy |
T |
C |
7: 44,827,518 (GRCm39) |
I193V |
probably benign |
Het |
| Ggnbp2 |
T |
C |
11: 84,744,899 (GRCm39) |
T208A |
probably benign |
Het |
| Gigyf1 |
T |
A |
5: 137,523,795 (GRCm39) |
M1019K |
probably damaging |
Het |
| Gm45783 |
T |
C |
7: 7,373,599 (GRCm39) |
D61G |
probably damaging |
Het |
| Golga5 |
T |
C |
12: 102,450,835 (GRCm39) |
|
probably null |
Het |
| Ighe |
A |
G |
12: 113,235,023 (GRCm39) |
V379A |
|
Het |
| Itpr3 |
C |
A |
17: 27,313,774 (GRCm39) |
H573Q |
probably benign |
Het |
| Klhl2 |
A |
G |
8: 65,202,809 (GRCm39) |
L463P |
probably damaging |
Het |
| Large1 |
T |
G |
8: 73,550,343 (GRCm39) |
M619L |
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,308,748 (GRCm39) |
V149E |
probably benign |
Het |
| Lyz2 |
T |
C |
10: 117,118,144 (GRCm39) |
K2E |
probably damaging |
Het |
| Man2c1 |
T |
A |
9: 57,048,412 (GRCm39) |
S858T |
probably damaging |
Het |
| Nt5dc1 |
A |
T |
10: 34,180,932 (GRCm39) |
N439K |
probably benign |
Het |
| Or4a2 |
A |
G |
2: 89,248,145 (GRCm39) |
I204T |
probably benign |
Het |
| Or4n4b |
G |
A |
14: 50,536,281 (GRCm39) |
L162F |
probably benign |
Het |
| Or4p7 |
T |
C |
2: 88,222,224 (GRCm39) |
V211A |
possibly damaging |
Het |
| Or51f1 |
A |
T |
7: 102,506,278 (GRCm39) |
Y70* |
probably null |
Het |
| Or5d43 |
T |
C |
2: 88,105,445 (GRCm39) |
|
probably benign |
Het |
| Or7g27 |
A |
C |
9: 19,250,109 (GRCm39) |
M118L |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,722,843 (GRCm39) |
N296S |
probably benign |
Het |
| Patj |
A |
G |
4: 98,383,298 (GRCm39) |
N789D |
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,693,314 (GRCm39) |
D851G |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,712,723 (GRCm39) |
H833R |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,742,023 (GRCm39) |
E119G |
not run |
Het |
| Plekha5 |
A |
G |
6: 140,526,161 (GRCm39) |
D933G |
probably benign |
Het |
| Pnma1 |
G |
A |
12: 84,193,903 (GRCm39) |
R267C |
probably damaging |
Het |
| Ppp3cb |
T |
A |
14: 20,558,619 (GRCm39) |
H481L |
probably benign |
Het |
| Prl8a8 |
T |
C |
13: 27,695,418 (GRCm39) |
|
probably null |
Het |
| Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
| Ptpro |
C |
A |
6: 137,359,647 (GRCm39) |
L406I |
probably benign |
Het |
| Rbpj |
T |
C |
5: 53,758,276 (GRCm39) |
S18P |
probably benign |
Het |
| Rhbg |
C |
T |
3: 88,154,886 (GRCm39) |
V173M |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,532,254 (GRCm39) |
S583P |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,794,630 (GRCm39) |
S1217G |
probably benign |
Het |
| S1pr1 |
A |
T |
3: 115,505,922 (GRCm39) |
I224N |
probably damaging |
Het |
| Sall1 |
C |
T |
8: 89,757,681 (GRCm39) |
D808N |
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,976,467 (GRCm39) |
V119A |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,124,798 (GRCm39) |
Y2737* |
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,152,264 (GRCm39) |
Y34C |
unknown |
Het |
| Ssh2 |
A |
T |
11: 77,328,542 (GRCm39) |
E369D |
probably benign |
Het |
| Stx1b |
C |
T |
7: 127,406,531 (GRCm39) |
V273M |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,012,654 (GRCm39) |
H2615R |
probably benign |
Het |
| Tmc8 |
T |
C |
11: 117,675,758 (GRCm39) |
I225T |
probably benign |
Het |
| Tmem126b |
A |
G |
7: 90,121,854 (GRCm39) |
I52T |
probably benign |
Het |
| Top2b |
G |
A |
14: 16,416,605 (GRCm38) |
D1122N |
probably benign |
Het |
| Trav13-2 |
T |
A |
14: 53,872,363 (GRCm39) |
S7T |
possibly damaging |
Het |
| Ttc1 |
A |
T |
11: 43,636,189 (GRCm39) |
L18Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,567,553 (GRCm39) |
I27780N |
probably damaging |
Het |
| Ubfd1 |
T |
C |
7: 121,666,635 (GRCm39) |
S44P |
probably benign |
Het |
| Vmn1r89 |
A |
G |
7: 12,953,632 (GRCm39) |
K123E |
probably damaging |
Het |
| Vmn2r62 |
A |
C |
7: 42,437,316 (GRCm39) |
F389L |
possibly damaging |
Het |
| Vps35l |
C |
T |
7: 118,393,800 (GRCm39) |
|
probably null |
Het |
| Zdhhc11 |
T |
A |
13: 74,121,726 (GRCm39) |
M79K |
possibly damaging |
Het |
| Zfp202 |
G |
T |
9: 40,118,640 (GRCm39) |
V18F |
possibly damaging |
Het |
| Zfp39 |
A |
G |
11: 58,781,869 (GRCm39) |
F298L |
possibly damaging |
Het |
| Znrf1 |
G |
A |
8: 112,264,071 (GRCm39) |
G100D |
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 |
|
|
|
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'- TCTGAAGGACTGGGATATGCG -3'
(R):5'- AAGCAGAGCCTATTGTGTGG -3'
Sequencing Primer
(F):5'- AAAGGTGTCACCCGCTGAG -3'
(R):5'- CCTATTGTGTGGGGTGATTGATATC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation