Incidental Mutation 'R9272:Atp13a4'
ID |
703047 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a4
|
Ensembl Gene |
ENSMUSG00000038094 |
Gene Name |
ATPase type 13A4 |
Synonyms |
4631413J11Rik, 9330174J19Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9272 (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 T
at 29268797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 519
(I519N)
|
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: I538N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048753 Gene: ENSMUSG00000038094 AA Change: I538N
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: I519N
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182627
AA Change: I538N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138479 Gene: ENSMUSG00000038094 AA Change: I538N
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: 99.0%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
A |
G |
6: 146,854,499 (GRCm39) |
V181A |
probably damaging |
Het |
Abca16 |
T |
A |
7: 120,076,993 (GRCm39) |
D686E |
probably benign |
Het |
Abca8a |
C |
A |
11: 109,953,908 (GRCm39) |
C844F |
probably damaging |
Het |
Acd |
G |
A |
8: 106,424,952 (GRCm39) |
P396L |
probably damaging |
Het |
Adamtsl3 |
A |
G |
7: 82,189,753 (GRCm39) |
Y659C |
probably damaging |
Het |
Ankfn1 |
C |
T |
11: 89,413,875 (GRCm39) |
V167M |
probably benign |
Het |
Ankrd13c |
T |
A |
3: 157,700,358 (GRCm39) |
L393Q |
possibly damaging |
Het |
Arid1b |
G |
A |
17: 5,386,879 (GRCm39) |
G1391D |
possibly damaging |
Het |
Arid5b |
T |
A |
10: 67,937,882 (GRCm39) |
D415V |
probably damaging |
Het |
Arl13b |
G |
T |
16: 62,647,774 (GRCm39) |
H45N |
probably benign |
Het |
Atrnl1 |
T |
C |
19: 57,643,420 (GRCm39) |
I436T |
probably benign |
Het |
Bbx |
A |
G |
16: 50,022,935 (GRCm39) |
I675T |
probably damaging |
Het |
Bcas1 |
A |
T |
2: 170,190,040 (GRCm39) |
V619E |
probably damaging |
Het |
Cad |
T |
C |
5: 31,218,576 (GRCm39) |
V501A |
possibly damaging |
Het |
Car8 |
T |
A |
4: 8,169,686 (GRCm39) |
N274I |
probably damaging |
Het |
Ccdc3 |
A |
G |
2: 5,146,143 (GRCm39) |
Q159R |
probably damaging |
Het |
Ccdc7b |
A |
T |
8: 129,893,459 (GRCm39) |
E95D |
possibly damaging |
Het |
Cdh12 |
G |
T |
15: 21,492,801 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
G |
T |
3: 113,901,948 (GRCm39) |
G548* |
probably null |
Het |
Cpb2 |
A |
G |
14: 75,520,803 (GRCm39) |
E406G |
probably damaging |
Het |
Crocc |
T |
C |
4: 140,747,132 (GRCm39) |
S1723G |
probably benign |
Het |
Ctu2 |
T |
C |
8: 123,206,045 (GRCm39) |
V262A |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,311,404 (GRCm39) |
N1772K |
possibly damaging |
Het |
Dock3 |
A |
T |
9: 106,774,569 (GRCm39) |
M62K |
probably benign |
Het |
Dok7 |
G |
A |
5: 35,214,239 (GRCm39) |
|
probably benign |
Het |
E2f3 |
A |
G |
13: 30,102,629 (GRCm39) |
Y211H |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,460,699 (GRCm39) |
Y207H |
probably damaging |
Het |
Fam53c |
T |
A |
18: 34,895,774 (GRCm39) |
S25R |
probably damaging |
Het |
Fhod3 |
T |
G |
18: 25,030,681 (GRCm39) |
|
probably benign |
Het |
Foxp4 |
A |
G |
17: 48,180,033 (GRCm39) |
Y623H |
unknown |
Het |
Ggt1 |
A |
T |
10: 75,421,749 (GRCm39) |
H532L |
probably benign |
Het |
Gm10775 |
A |
C |
13: 65,407,770 (GRCm39) |
T24P |
unknown |
Het |
Hinfp |
A |
G |
9: 44,213,872 (GRCm39) |
S2P |
probably benign |
Het |
Hs3st4 |
A |
G |
7: 123,582,749 (GRCm39) |
T116A |
probably benign |
Het |
Ighv5-9-1 |
A |
T |
12: 113,699,818 (GRCm39) |
I98N |
probably damaging |
Het |
Ipo11 |
A |
T |
13: 107,046,713 (GRCm39) |
Y171N |
probably benign |
Het |
Jph1 |
C |
A |
1: 17,161,838 (GRCm39) |
A275S |
probably damaging |
Het |
Kcnh6 |
C |
G |
11: 105,924,860 (GRCm39) |
H941Q |
possibly damaging |
Het |
Kcnh7 |
A |
T |
2: 62,618,097 (GRCm39) |
I464K |
probably damaging |
Het |
Lrp8 |
C |
A |
4: 107,717,158 (GRCm39) |
P603T |
probably benign |
Het |
Man1c1 |
C |
A |
4: 134,291,118 (GRCm39) |
D593Y |
probably damaging |
Het |
Mdm4 |
A |
T |
1: 132,929,169 (GRCm39) |
I176K |
possibly damaging |
Het |
Mpo |
T |
C |
11: 87,686,693 (GRCm39) |
V139A |
probably benign |
Het |
Niban3 |
A |
C |
8: 72,055,520 (GRCm39) |
D310A |
probably damaging |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
Or1f12 |
A |
G |
13: 21,721,864 (GRCm39) |
S89P |
possibly damaging |
Het |
Or4k51 |
G |
A |
2: 111,584,965 (GRCm39) |
V124M |
probably damaging |
Het |
Or9g4b |
A |
T |
2: 85,616,088 (GRCm39) |
I78L |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 57,878,779 (GRCm39) |
D778G |
possibly damaging |
Het |
Pcdhb12 |
T |
C |
18: 37,570,675 (GRCm39) |
F607S |
probably damaging |
Het |
Pcolce |
A |
G |
5: 137,606,333 (GRCm39) |
F157L |
probably benign |
Het |
Pogk |
T |
C |
1: 166,226,780 (GRCm39) |
Y457C |
probably damaging |
Het |
Ppp1r21 |
G |
A |
17: 88,866,086 (GRCm39) |
E323K |
possibly damaging |
Het |
Prkn |
T |
A |
17: 11,456,527 (GRCm39) |
V117E |
probably damaging |
Het |
Prr12 |
A |
C |
7: 44,692,811 (GRCm39) |
F1574V |
probably damaging |
Het |
Rasl2-9 |
A |
T |
7: 5,128,448 (GRCm39) |
F161I |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,517,602 (GRCm39) |
I268T |
possibly damaging |
Het |
Rin3 |
A |
T |
12: 102,335,691 (GRCm39) |
D534V |
probably damaging |
Het |
Scn5a |
C |
T |
9: 119,315,717 (GRCm39) |
G1664S |
probably damaging |
Het |
Sin3b |
T |
C |
8: 73,471,168 (GRCm39) |
S372P |
probably benign |
Het |
Snx32 |
T |
A |
19: 5,548,485 (GRCm39) |
H65L |
probably damaging |
Het |
Spidr |
T |
A |
16: 15,855,544 (GRCm39) |
I324F |
probably damaging |
Het |
Stab1 |
A |
T |
14: 30,867,298 (GRCm39) |
F1687L |
probably benign |
Het |
Taar6 |
T |
C |
10: 23,860,903 (GRCm39) |
I214M |
probably benign |
Het |
Vmn2r105 |
T |
A |
17: 20,447,685 (GRCm39) |
N380Y |
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 |
|
|
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 |
|
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'- TATGCCATATTGGAAACCCTACG -3'
(R):5'- GCTGGCTAACATACTGTTGTCC -3'
Sequencing Primer
(F):5'- GGAAACCCTACGTTTGTTGAG -3'
(R):5'- AACATACTGTTGTCCTGTGGAGACC -3'
|
Posted On |
2022-03-25 |