Incidental Mutation 'R4163:Atp13a4'
ID |
321632 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a4
|
Ensembl Gene |
ENSMUSG00000038094 |
Gene Name |
ATPase type 13A4 |
Synonyms |
4631413J11Rik, 9330174J19Rik |
MMRRC Submission |
041006-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4163 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
29214671-29363682 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 29360068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 19
(N19K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138583
(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: N19K
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000048753 Gene: ENSMUSG00000038094 AA Change: N19K
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: N19K
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000060987 Gene: ENSMUSG00000038094 AA Change: N19K
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 |
possibly damaging
Transcript: ENSMUST00000182013
AA Change: N19K
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138583 Gene: ENSMUSG00000038094 AA Change: N19K
Domain | Start | End | E-Value | Type |
Pfam:P5-ATPase
|
17 |
84 |
4.2e-26 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182627
AA Change: N19K
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000138479 Gene: ENSMUSG00000038094 AA Change: N19K
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182694
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182824
|
Meta Mutation Damage Score |
0.1147 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930555F03Rik |
G |
A |
8: 49,948,531 (GRCm39) |
|
noncoding transcript |
Het |
Abca8a |
C |
T |
11: 109,941,808 (GRCm39) |
D1154N |
probably benign |
Het |
Adgrf4 |
A |
G |
17: 42,978,477 (GRCm39) |
F289L |
probably benign |
Het |
Alkbh2 |
A |
G |
5: 114,265,613 (GRCm39) |
L63S |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,933,975 (GRCm39) |
Y2544N |
probably damaging |
Het |
Bnip5 |
T |
C |
17: 29,118,503 (GRCm39) |
Y643C |
probably benign |
Het |
Bpifa3 |
A |
G |
2: 153,977,516 (GRCm39) |
N118S |
probably damaging |
Het |
Chst10 |
T |
A |
1: 38,910,904 (GRCm39) |
M87L |
probably benign |
Het |
Cnot9 |
C |
T |
1: 74,568,006 (GRCm39) |
P298L |
probably damaging |
Het |
Cops5 |
T |
C |
1: 10,100,912 (GRCm39) |
Y228C |
probably damaging |
Het |
Dcaf8 |
T |
G |
1: 172,020,137 (GRCm39) |
L492R |
probably damaging |
Het |
Dis3l2 |
A |
G |
1: 86,748,959 (GRCm39) |
S128G |
probably benign |
Het |
Dock1 |
A |
G |
7: 134,346,051 (GRCm39) |
R198G |
possibly damaging |
Het |
Elovl7 |
T |
A |
13: 108,403,904 (GRCm39) |
M82K |
possibly damaging |
Het |
Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
Fcgr2b |
T |
C |
1: 170,791,016 (GRCm39) |
D259G |
possibly damaging |
Het |
Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
Frk |
C |
T |
10: 34,467,868 (GRCm39) |
P294L |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm128 |
C |
A |
3: 95,147,802 (GRCm39) |
R164L |
probably benign |
Het |
Gm2223 |
C |
T |
X: 32,943,247 (GRCm39) |
|
noncoding transcript |
Het |
Hexd |
C |
A |
11: 121,111,975 (GRCm39) |
A423E |
probably benign |
Het |
Itgax |
G |
T |
7: 127,743,872 (GRCm39) |
V878F |
probably benign |
Het |
Kank2 |
A |
T |
9: 21,706,864 (GRCm39) |
D51E |
probably damaging |
Het |
Kcna4 |
G |
C |
2: 107,126,151 (GRCm39) |
W295S |
probably damaging |
Het |
Mfsd12 |
A |
G |
10: 81,196,931 (GRCm39) |
|
probably null |
Het |
Mis12 |
A |
G |
11: 70,916,482 (GRCm39) |
T172A |
probably benign |
Het |
Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
Myo18a |
G |
T |
11: 77,720,534 (GRCm39) |
R1103L |
possibly damaging |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Ntrk2 |
T |
C |
13: 59,008,054 (GRCm39) |
V272A |
probably damaging |
Het |
Or2ag17 |
A |
T |
7: 106,389,486 (GRCm39) |
C241S |
probably damaging |
Het |
Or5p64 |
A |
T |
7: 107,855,039 (GRCm39) |
I102N |
probably benign |
Het |
Or7e165 |
A |
T |
9: 19,695,086 (GRCm39) |
Y219F |
possibly damaging |
Het |
Pcdh20 |
C |
T |
14: 88,705,615 (GRCm39) |
D562N |
probably damaging |
Het |
Prep |
T |
C |
10: 44,943,436 (GRCm39) |
F4L |
probably benign |
Het |
Prep |
G |
T |
10: 44,943,458 (GRCm39) |
R11L |
possibly damaging |
Het |
Ptgs1 |
C |
T |
2: 36,141,346 (GRCm39) |
R598C |
possibly damaging |
Het |
Rasgrp1 |
T |
C |
2: 117,113,135 (GRCm39) |
D759G |
probably benign |
Het |
Setd5 |
T |
C |
6: 113,096,545 (GRCm39) |
S584P |
probably benign |
Het |
Shank3 |
A |
G |
15: 89,433,797 (GRCm39) |
D1514G |
probably damaging |
Het |
Shox2 |
T |
C |
3: 66,881,104 (GRCm39) |
|
probably benign |
Het |
Slc44a5 |
A |
T |
3: 153,967,010 (GRCm39) |
R565S |
possibly damaging |
Het |
Slc7a5 |
A |
G |
8: 122,615,139 (GRCm39) |
L236S |
probably benign |
Het |
Slfn3 |
A |
T |
11: 83,103,596 (GRCm39) |
I156F |
probably damaging |
Het |
Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
Trim72 |
T |
C |
7: 127,607,080 (GRCm39) |
V203A |
probably benign |
Het |
Vrk2 |
T |
A |
11: 26,497,915 (GRCm39) |
I90L |
probably benign |
Het |
Zc3h12c |
A |
T |
9: 52,026,999 (GRCm39) |
Y788N |
probably damaging |
Het |
Zfp831 |
A |
G |
2: 174,485,822 (GRCm39) |
T166A |
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 |
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'- CATGCTGTCAGGAGTTACATTC -3'
(R):5'- CCAGAAATTCCTCCTGGCAC -3'
Sequencing Primer
(F):5'- TGTCAGGAGTTACATTCACGGGAC -3'
(R):5'- GGAGGAGTCCACTTCGCTAAATATTG -3'
|
Posted On |
2015-06-12 |