Incidental Mutation 'R7739:Atp13a4'
| ID |
596454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
4631413J11Rik, 9330174J19Rik |
| MMRRC Submission |
045795-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7739 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
29214671-29363682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29275419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 355
(I355T)
|
| 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 benign
Transcript: ENSMUST00000039090
AA Change: I355T
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: I355T
| 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: I355T
| 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: ENSMUST00000182573
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182627
AA Change: I355T
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: I355T
| 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 |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
C |
A |
15: 57,885,875 (GRCm39) |
A336S |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,865,417 (GRCm39) |
S347P |
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,352,983 (GRCm39) |
T326A |
possibly damaging |
Het |
| Atp2a2 |
G |
A |
5: 122,607,768 (GRCm39) |
T247I |
probably damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,837,227 (GRCm39) |
D555E |
probably benign |
Het |
| Aurkb |
G |
T |
11: 68,939,058 (GRCm39) |
G94* |
probably null |
Het |
| B130006D01Rik |
A |
T |
11: 95,616,986 (GRCm39) |
H37L |
unknown |
Het |
| Cabin1 |
A |
G |
10: 75,494,492 (GRCm39) |
L1629P |
probably damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,095,578 (GRCm39) |
T1840I |
possibly damaging |
Het |
| Ccdc80 |
A |
C |
16: 44,916,186 (GRCm39) |
D314A |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,360,845 (GRCm39) |
I201N |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,761,653 (GRCm39) |
L2246P |
probably damaging |
Het |
| Cpsf1 |
T |
A |
15: 76,484,511 (GRCm39) |
M657L |
probably benign |
Het |
| Dmtf1 |
A |
G |
5: 9,190,453 (GRCm39) |
V87A |
probably damaging |
Het |
| Drd5 |
G |
T |
5: 38,477,421 (GRCm39) |
W138L |
probably damaging |
Het |
| Dspp |
G |
A |
5: 104,326,012 (GRCm39) |
D792N |
unknown |
Het |
| Fat2 |
C |
A |
11: 55,171,957 (GRCm39) |
E2919* |
probably null |
Het |
| Fgf20 |
A |
G |
8: 40,732,937 (GRCm39) |
V167A |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,779,266 (GRCm39) |
V934A |
possibly damaging |
Het |
| Gtf3c3 |
G |
T |
1: 54,444,198 (GRCm39) |
A730D |
possibly damaging |
Het |
| H2-T24 |
A |
G |
17: 36,325,483 (GRCm39) |
V335A |
probably benign |
Het |
| Havcr2 |
T |
G |
11: 46,347,384 (GRCm39) |
N120K |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,348,038 (GRCm39) |
F4895L |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,342,847 (GRCm39) |
Y475H |
probably damaging |
Het |
| Lonp1 |
T |
C |
17: 56,933,620 (GRCm39) |
D85G |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,500,975 (GRCm39) |
S657G |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,584,816 (GRCm39) |
Y382N |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,279,391 (GRCm39) |
D3870G |
probably damaging |
Het |
| Mtf1 |
T |
A |
4: 124,718,081 (GRCm39) |
C260S |
probably damaging |
Het |
| Naa35 |
A |
G |
13: 59,747,598 (GRCm39) |
D110G |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,115,501 (GRCm39) |
T808S |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,909 (GRCm39) |
W56R |
probably damaging |
Het |
| Pax9 |
A |
T |
12: 56,746,884 (GRCm39) |
H240L |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,993,529 (GRCm39) |
T413A |
probably benign |
Het |
| Pik3r1 |
A |
G |
13: 101,846,205 (GRCm39) |
V127A |
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,381,324 (GRCm39) |
E170G |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,931,819 (GRCm39) |
I966T |
possibly damaging |
Het |
| Prelid2 |
A |
G |
18: 42,045,433 (GRCm39) |
|
probably null |
Het |
| Rab29 |
T |
A |
1: 131,799,923 (GRCm39) |
M166K |
probably damaging |
Het |
| Rab2b |
T |
C |
14: 52,503,717 (GRCm39) |
E135G |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,486,463 (GRCm39) |
S365T |
possibly damaging |
Het |
| Rnf213 |
G |
A |
11: 119,301,687 (GRCm39) |
E387K |
|
Het |
| Sh3d19 |
T |
C |
3: 86,031,038 (GRCm39) |
V734A |
probably benign |
Het |
| Spata31e5 |
T |
A |
1: 28,816,689 (GRCm39) |
T448S |
possibly damaging |
Het |
| Spmip3 |
T |
A |
1: 177,570,828 (GRCm39) |
I54K |
probably damaging |
Het |
| Ssbp1 |
T |
G |
6: 40,454,914 (GRCm39) |
N124K |
probably damaging |
Het |
| Tbc1d31 |
C |
T |
15: 57,799,494 (GRCm39) |
R227* |
probably null |
Het |
| Tcerg1 |
A |
G |
18: 42,657,039 (GRCm39) |
T174A |
unknown |
Het |
| Tenm2 |
T |
C |
11: 35,960,388 (GRCm39) |
S980G |
possibly damaging |
Het |
| Trim30a |
T |
C |
7: 104,079,386 (GRCm39) |
I156M |
possibly damaging |
Het |
| Trim39 |
T |
C |
17: 36,571,396 (GRCm39) |
D454G |
possibly damaging |
Het |
| Trpc7 |
A |
T |
13: 56,921,579 (GRCm39) |
*863K |
probably null |
Het |
| Tubgcp3 |
A |
G |
8: 12,707,561 (GRCm39) |
Y143H |
probably benign |
Het |
| Vmn1r33 |
C |
T |
6: 66,589,357 (GRCm39) |
D66N |
probably benign |
Het |
| Vmn2r8 |
A |
T |
5: 108,950,043 (GRCm39) |
I268N |
probably damaging |
Het |
| Vmn2r91 |
A |
C |
17: 18,356,080 (GRCm39) |
E582D |
probably benign |
Het |
| Vtcn1 |
T |
C |
3: 100,791,211 (GRCm39) |
F83S |
probably damaging |
Het |
| Wdr81 |
G |
T |
11: 75,332,811 (GRCm39) |
D684E |
|
Het |
| Wipi1 |
A |
G |
11: 109,470,535 (GRCm39) |
S295P |
probably damaging |
Het |
| Zfp27 |
A |
T |
7: 29,593,699 (GRCm39) |
H755Q |
possibly damaging |
Het |
| Zfp963 |
A |
G |
8: 70,195,533 (GRCm39) |
F307L |
possibly 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 |
|
|
|
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'- ATTTACTGAGATGCACAGGCCAC -3'
(R):5'- TTTGCACAGGAAAGGCACTC -3'
Sequencing Primer
(F):5'- GGCCACCGTCAATCAGC -3'
(R):5'- TCCACCCCACAAAGTAAGATTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation