Incidental Mutation 'R8773:Atp13a4'
| ID |
664566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
4631413J11Rik, 9330174J19Rik |
| MMRRC Submission |
068627-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8773 (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 29260398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 560
(V560A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000039090
AA Change: V579A
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: V579A
| 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: V560A
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182627
AA Change: V579A
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: V579A
| 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: 98.7%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
T |
2: 151,314,062 (GRCm39) |
S539T |
possibly damaging |
Het |
| Abcc6 |
C |
T |
7: 45,634,569 (GRCm39) |
R1136Q |
probably benign |
Het |
| Abhd12b |
A |
C |
12: 70,213,708 (GRCm39) |
|
probably null |
Het |
| Agk |
T |
G |
6: 40,334,050 (GRCm39) |
V98G |
possibly damaging |
Het |
| Apbb2 |
A |
G |
5: 66,609,252 (GRCm39) |
S132P |
probably damaging |
Het |
| Apc2 |
T |
C |
10: 80,142,046 (GRCm39) |
S322P |
probably damaging |
Het |
| Armc3 |
T |
C |
2: 19,293,667 (GRCm39) |
V486A |
probably benign |
Het |
| Asxl2 |
A |
G |
12: 3,507,200 (GRCm39) |
K131E |
probably damaging |
Het |
| Bnc1 |
C |
T |
7: 81,623,719 (GRCm39) |
G503S |
probably damaging |
Het |
| Bsn |
C |
A |
9: 107,987,704 (GRCm39) |
V2683F |
unknown |
Het |
| Btbd7 |
A |
T |
12: 102,804,241 (GRCm39) |
N266K |
probably benign |
Het |
| Ccdc121rt2 |
T |
C |
5: 112,597,681 (GRCm39) |
V76A |
probably benign |
Het |
| Cdca7l |
G |
A |
12: 117,839,346 (GRCm39) |
D350N |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,411,913 (GRCm39) |
D515G |
probably benign |
Het |
| Ciao2a |
A |
T |
9: 66,045,667 (GRCm39) |
N145I |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,696,171 (GRCm39) |
D3239V |
unknown |
Het |
| Col9a1 |
T |
A |
1: 24,224,208 (GRCm39) |
I130N |
unknown |
Het |
| Cr2 |
A |
G |
1: 194,840,913 (GRCm39) |
W460R |
probably damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,417,583 (GRCm39) |
F56S |
probably damaging |
Het |
| Dnaaf1 |
A |
G |
8: 120,302,194 (GRCm39) |
I32V |
probably benign |
Het |
| Dnah11 |
T |
A |
12: 117,958,950 (GRCm39) |
T2978S |
possibly damaging |
Het |
| Dsg2 |
T |
A |
18: 20,716,056 (GRCm39) |
D302E |
probably damaging |
Het |
| Faf1 |
T |
A |
4: 109,699,507 (GRCm39) |
F351I |
possibly damaging |
Het |
| Gimap8 |
C |
A |
6: 48,633,545 (GRCm39) |
Q455K |
probably benign |
Het |
| Hps6 |
C |
G |
19: 45,994,141 (GRCm39) |
R693G |
possibly damaging |
Het |
| Irx1 |
C |
T |
13: 72,107,635 (GRCm39) |
G349D |
probably damaging |
Het |
| Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,710 (GRCm39) |
T271A |
possibly damaging |
Het |
| Mapkapk2 |
T |
C |
1: 130,983,679 (GRCm39) |
H308R |
probably damaging |
Het |
| Mast1 |
A |
T |
8: 85,642,953 (GRCm39) |
N947K |
probably damaging |
Het |
| Mpeg1 |
A |
T |
19: 12,440,419 (GRCm39) |
I626F |
probably damaging |
Het |
| Mrtfa |
T |
C |
15: 80,902,274 (GRCm39) |
S349G |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 49,015,900 (GRCm39) |
S1859P |
possibly damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,167,712 (GRCm39) |
D728E |
probably benign |
Het |
| Or1j8 |
A |
G |
2: 36,192,387 (GRCm39) |
T279A |
probably benign |
Het |
| Or8c19-ps1 |
G |
T |
9: 38,220,516 (GRCm39) |
V142F |
probably benign |
Het |
| Pcdhb18 |
A |
T |
18: 37,624,562 (GRCm39) |
S631C |
probably damaging |
Het |
| Pcdhga11 |
C |
A |
18: 37,890,364 (GRCm39) |
Y457* |
probably null |
Het |
| Pcdhga5 |
T |
C |
18: 37,829,823 (GRCm39) |
I757T |
probably benign |
Het |
| Pcgf5 |
G |
A |
19: 36,389,348 (GRCm39) |
|
probably benign |
Het |
| Pdf |
A |
G |
8: 107,775,100 (GRCm39) |
V44A |
possibly damaging |
Het |
| Pip4p1 |
T |
C |
14: 51,166,503 (GRCm39) |
T194A |
possibly damaging |
Het |
| Prtg |
A |
T |
9: 72,819,583 (GRCm39) |
*1192L |
probably null |
Het |
| Ptk7 |
A |
G |
17: 46,877,193 (GRCm39) |
F955S |
possibly damaging |
Het |
| Rbp3 |
C |
A |
14: 33,684,492 (GRCm39) |
Q1174K |
possibly damaging |
Het |
| Rufy1 |
T |
C |
11: 50,321,796 (GRCm39) |
D46G |
possibly damaging |
Het |
| Sbf2 |
A |
G |
7: 109,948,202 (GRCm39) |
V1216A |
probably benign |
Het |
| Serpina11 |
A |
G |
12: 103,952,722 (GRCm39) |
V18A |
unknown |
Het |
| Serpinb6a |
T |
A |
13: 34,115,543 (GRCm39) |
N47I |
probably damaging |
Het |
| Shc2 |
T |
C |
10: 79,456,924 (GRCm39) |
H564R |
probably damaging |
Het |
| Sirt7 |
T |
A |
11: 120,514,888 (GRCm39) |
R115* |
probably null |
Het |
| Slc22a14 |
A |
T |
9: 119,059,290 (GRCm39) |
|
probably benign |
Het |
| Stra8 |
T |
A |
6: 34,912,581 (GRCm39) |
S331T |
probably damaging |
Het |
| Tm9sf2 |
A |
G |
14: 122,380,883 (GRCm39) |
T324A |
probably benign |
Het |
| Tmem268 |
T |
C |
4: 63,498,530 (GRCm39) |
S224P |
probably benign |
Het |
| Tns1 |
T |
C |
1: 73,976,407 (GRCm39) |
D1147G |
probably damaging |
Het |
| Tomm22 |
C |
T |
15: 79,555,311 (GRCm39) |
|
probably benign |
Het |
| Top1 |
A |
G |
2: 160,556,158 (GRCm39) |
Y539C |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,009,552 (GRCm39) |
|
probably benign |
Het |
| Trav3-1 |
T |
C |
14: 52,818,428 (GRCm39) |
V34A |
probably damaging |
Het |
| Tspyl5 |
T |
C |
15: 33,687,238 (GRCm39) |
N236D |
possibly damaging |
Het |
| Ttc41 |
A |
G |
10: 86,565,679 (GRCm39) |
D411G |
probably benign |
Het |
| Vmn1r128 |
A |
T |
7: 21,083,922 (GRCm39) |
M209L |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,355,527 (GRCm39) |
D3429E |
probably benign |
Het |
| Zfp418 |
A |
T |
7: 7,185,797 (GRCm39) |
T587S |
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 |
|
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 |
|
|
|
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 |
|
|
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'- AGTGGGAATTAACTGCCAGC -3'
(R):5'- AGGCCTGTCAATATGCTGAG -3'
Sequencing Primer
(F):5'- GTCCCTGTTTTACCAGATGCAGAAG -3'
(R):5'- CCTGTCAATATGCTGAGGTGGTTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation