Incidental Mutation 'R1263:Atp13a4'
| ID |
151682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
4631413J11Rik, 9330174J19Rik |
| MMRRC Submission |
039330-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1263 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
29214671-29363682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29290771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 226
(Y226F)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000039090
AA Change: Y226F
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: Y226F
| 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
AA Change: Y226F
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: Y226F
| 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: ENSMUST00000182627
AA Change: Y226F
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: Y226F
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
C |
11: 109,832,433 (GRCm39) |
H1231Q |
possibly damaging |
Het |
| Acbd4 |
T |
A |
11: 102,994,677 (GRCm39) |
|
probably null |
Het |
| Brd3 |
A |
C |
2: 27,352,534 (GRCm39) |
F132C |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,933,924 (GRCm39) |
N184I |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,903,887 (GRCm39) |
E351G |
possibly damaging |
Het |
| Ccdc185 |
A |
T |
1: 182,574,918 (GRCm39) |
Y590* |
probably null |
Het |
| Chi3l1 |
G |
A |
1: 134,116,980 (GRCm39) |
E315K |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,586,688 (GRCm39) |
M1778L |
probably benign |
Het |
| Cyp3a59 |
A |
C |
5: 146,041,521 (GRCm39) |
Y355S |
probably damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,431,908 (GRCm39) |
T396A |
probably benign |
Het |
| Dnaaf6rt |
A |
T |
1: 31,262,296 (GRCm39) |
I93F |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,121,948 (GRCm39) |
I1373N |
probably damaging |
Het |
| Dop1b |
C |
A |
16: 93,574,274 (GRCm39) |
H1598N |
probably benign |
Het |
| Erich4 |
T |
A |
7: 25,314,559 (GRCm39) |
K118M |
probably damaging |
Het |
| Gkap1 |
A |
T |
13: 58,403,587 (GRCm39) |
V179E |
probably benign |
Het |
| Gpr107 |
T |
G |
2: 31,068,267 (GRCm39) |
I243S |
possibly damaging |
Het |
| Hs3st6 |
A |
G |
17: 24,977,504 (GRCm39) |
N328S |
probably damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,549,602 (GRCm39) |
I375N |
probably damaging |
Het |
| Klhdc3 |
A |
T |
17: 46,987,892 (GRCm39) |
H266Q |
probably benign |
Het |
| Krt71 |
C |
T |
15: 101,643,901 (GRCm39) |
G446R |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,567,169 (GRCm39) |
T423A |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,929,430 (GRCm39) |
E1812G |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,987,948 (GRCm39) |
I1174T |
probably benign |
Het |
| Npas2 |
C |
A |
1: 39,373,849 (GRCm39) |
Q450K |
possibly damaging |
Het |
| Nrp1 |
T |
A |
8: 129,194,870 (GRCm39) |
I442N |
probably damaging |
Het |
| Or1j10 |
T |
A |
2: 36,267,006 (GRCm39) |
S73T |
probably damaging |
Het |
| Or2y1 |
A |
T |
11: 49,385,848 (GRCm39) |
M163L |
probably benign |
Het |
| Palld |
TGCGTAGCG |
TGCG |
8: 61,966,491 (GRCm39) |
|
probably null |
Het |
| Pold3 |
T |
A |
7: 99,768,890 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Polg |
T |
C |
7: 79,109,534 (GRCm39) |
T428A |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,484,329 (GRCm39) |
V57E |
possibly damaging |
Het |
| Rnf122 |
T |
G |
8: 31,602,177 (GRCm39) |
M1R |
probably null |
Het |
| Sanbr |
A |
T |
11: 23,570,278 (GRCm39) |
Y207* |
probably null |
Het |
| Scn10a |
T |
A |
9: 119,446,799 (GRCm39) |
T1410S |
probably damaging |
Het |
| Serpinb13 |
T |
A |
1: 106,928,466 (GRCm39) |
V362E |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,234,922 (GRCm39) |
N927S |
probably damaging |
Het |
| Sft2d1 |
A |
G |
17: 8,539,470 (GRCm39) |
K91R |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,035,274 (GRCm39) |
H327R |
probably damaging |
Het |
| Slc9b2 |
C |
A |
3: 135,042,156 (GRCm39) |
H478Q |
probably benign |
Het |
| Styxl1 |
G |
T |
5: 135,782,737 (GRCm39) |
S117R |
probably damaging |
Het |
| Synj2 |
T |
C |
17: 6,069,634 (GRCm39) |
F150L |
probably damaging |
Het |
| Tep1 |
C |
A |
14: 51,082,970 (GRCm39) |
V1013L |
possibly damaging |
Het |
| Tgfbi |
T |
A |
13: 56,778,468 (GRCm39) |
L413Q |
probably damaging |
Het |
| Tmc5 |
G |
A |
7: 118,266,093 (GRCm39) |
R789Q |
probably damaging |
Het |
| Tonsl |
T |
A |
15: 76,506,762 (GRCm39) |
I115F |
possibly damaging |
Het |
| Trim38 |
A |
G |
13: 23,975,117 (GRCm39) |
Y352C |
probably damaging |
Het |
| Txnl4a |
T |
A |
18: 80,250,536 (GRCm39) |
V44D |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,972,501 (GRCm39) |
V39A |
probably damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,428,584 (GRCm39) |
C831R |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,027,667 (GRCm39) |
I469N |
probably benign |
Het |
| Vmn2r53 |
T |
C |
7: 12,315,533 (GRCm39) |
Y762C |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,896,918 (GRCm39) |
Q334L |
probably benign |
Het |
| Zfp277 |
A |
T |
12: 40,414,164 (GRCm39) |
I227N |
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 |
|
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 |
|
|
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'- AGGTCAAGGAACCCCTAGTAAGCAG -3'
(R):5'- ACAAGAAGCAGAGCCTATTGTGTGG -3'
Sequencing Primer
(F):5'- CCATCTTCTGAAGGACTGGG -3'
(R):5'- AGCCTATTGTGTGGGGTGATTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation