Incidental Mutation 'R6282:Atp13a4'
| ID |
508019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
9330174J19Rik, 4631413J11Rik |
| MMRRC Submission |
044452-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6282 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
29395853-29544864 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29434004 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 708
(I708N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138479
(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: I708N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: I708N
| 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 |
unknown
Transcript: ENSMUST00000057018
AA Change: I689N
|
| SMART Domains |
Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: I689N
| 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 |
unknown
Transcript: ENSMUST00000182168
AA Change: I70N
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182357
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182573
AA Change: I346N
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182627
AA Change: I708N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: I708N
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,800,769 (GRCm38) |
L185Q |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,208,824 (GRCm38) |
C966S |
probably damaging |
Het |
| Axin1 |
C |
G |
17: 26,143,037 (GRCm38) |
D118E |
probably damaging |
Het |
| Bace2 |
A |
T |
16: 97,415,097 (GRCm38) |
I297F |
probably damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,324,017 (GRCm38) |
D649V |
probably damaging |
Het |
| Cd180 |
G |
A |
13: 102,693,757 (GRCm38) |
A20T |
possibly damaging |
Het |
| Cdk18 |
T |
C |
1: 132,120,020 (GRCm38) |
D112G |
probably damaging |
Het |
| Cuedc1 |
A |
G |
11: 88,183,402 (GRCm38) |
N254S |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,503,601 (GRCm38) |
H2470R |
probably damaging |
Het |
| Drap1 |
G |
A |
19: 5,424,436 (GRCm38) |
|
probably null |
Het |
| Fbxo5 |
T |
A |
10: 5,801,216 (GRCm38) |
K257M |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,772,555 (GRCm38) |
R100C |
unknown |
Het |
| Gm12790 |
A |
G |
4: 101,967,516 (GRCm38) |
V185A |
possibly damaging |
Het |
| Gm7361 |
A |
G |
5: 26,260,413 (GRCm38) |
N136S |
probably benign |
Het |
| Il10ra |
C |
A |
9: 45,260,405 (GRCm38) |
C255F |
probably damaging |
Het |
| Insyn2b |
A |
G |
11: 34,402,819 (GRCm38) |
D287G |
possibly damaging |
Het |
| Itgam |
A |
T |
7: 128,084,942 (GRCm38) |
T340S |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,663,971 (GRCm38) |
N62I |
probably damaging |
Het |
| Ldb2 |
A |
G |
5: 44,532,665 (GRCm38) |
L204P |
probably damaging |
Het |
| Map2k4 |
T |
C |
11: 65,707,016 (GRCm38) |
T90A |
possibly damaging |
Het |
| Mettl3 |
A |
T |
14: 52,297,971 (GRCm38) |
D287E |
probably benign |
Het |
| Mier2 |
A |
G |
10: 79,544,742 (GRCm38) |
F278S |
probably damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,149,163 (GRCm38) |
M609T |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,557,512 (GRCm38) |
V929D |
probably damaging |
Het |
| Naprt |
A |
T |
15: 75,891,979 (GRCm38) |
M364K |
probably benign |
Het |
| Nod2 |
T |
A |
8: 88,670,460 (GRCm38) |
C833S |
probably benign |
Het |
| Nrip3 |
C |
T |
7: 109,763,479 (GRCm38) |
|
probably null |
Het |
| Ntsr2 |
A |
G |
12: 16,658,425 (GRCm38) |
Y320C |
probably damaging |
Het |
| Or14j8 |
G |
A |
17: 37,952,424 (GRCm38) |
S200F |
possibly damaging |
Het |
| Or4p7 |
C |
A |
2: 88,391,533 (GRCm38) |
C95* |
probably null |
Het |
| Or51h1 |
G |
A |
7: 102,659,647 (GRCm38) |
M275I |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,348,083 (GRCm38) |
|
probably null |
Het |
| Pcdhb3 |
C |
T |
18: 37,301,646 (GRCm38) |
R222C |
probably damaging |
Het |
| Pik3cd |
G |
T |
4: 149,659,743 (GRCm38) |
R184S |
probably benign |
Het |
| Pramel32 |
T |
C |
4: 88,630,054 (GRCm38) |
E38G |
probably damaging |
Het |
| Rad50 |
A |
T |
11: 53,669,770 (GRCm38) |
|
probably null |
Het |
| Rad51ap2 |
A |
T |
12: 11,457,559 (GRCm38) |
H494L |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,676,089 (GRCm38) |
M762T |
probably damaging |
Het |
| Sars1 |
G |
T |
3: 108,428,274 (GRCm38) |
S338* |
probably null |
Het |
| Usp35 |
T |
C |
7: 97,325,948 (GRCm38) |
E6G |
probably damaging |
Het |
| Vash2 |
T |
C |
1: 190,960,225 (GRCm38) |
Y251C |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,559,051 (GRCm38) |
N549S |
possibly damaging |
Het |
| Wdr20 |
T |
A |
12: 110,797,009 (GRCm38) |
|
probably benign |
Het |
| Wfdc1 |
G |
A |
8: 119,679,407 (GRCm38) |
C87Y |
probably damaging |
Het |
| Zfp985 |
T |
A |
4: 147,583,348 (GRCm38) |
H224Q |
probably benign |
Het |
|
| Other mutations in Atp13a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00563:Atp13a4
|
APN |
16 |
29,403,778 (GRCm38) |
splice site |
probably benign |
|
|
IGL01577:Atp13a4
|
APN |
16 |
29,441,284 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL01834:Atp13a4
|
APN |
16 |
29,415,777 (GRCm38) |
splice site |
probably benign |
|
|
IGL02165:Atp13a4
|
APN |
16 |
29,434,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02194:Atp13a4
|
APN |
16 |
29,456,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02322:Atp13a4
|
APN |
16 |
29,440,102 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02553:Atp13a4
|
APN |
16 |
29,422,703 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02821:Atp13a4
|
APN |
16 |
29,441,307 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03349:Atp13a4
|
APN |
16 |
29,456,671 (GRCm38) |
missense |
probably benign |
0.01 |
|
G5030:Atp13a4
|
UTSW |
16 |
29,455,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0091:Atp13a4
|
UTSW |
16 |
29,455,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0100:Atp13a4
|
UTSW |
16 |
29,421,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0278:Atp13a4
|
UTSW |
16 |
29,454,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1263:Atp13a4
|
UTSW |
16 |
29,471,953 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1378:Atp13a4
|
UTSW |
16 |
29,420,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1575:Atp13a4
|
UTSW |
16 |
29,409,710 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1720:Atp13a4
|
UTSW |
16 |
29,408,928 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1759:Atp13a4
|
UTSW |
16 |
29,456,611 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1967:Atp13a4
|
UTSW |
16 |
29,479,854 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2030:Atp13a4
|
UTSW |
16 |
29,422,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2113:Atp13a4
|
UTSW |
16 |
29,441,284 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R3409:Atp13a4
|
UTSW |
16 |
29,413,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3410:Atp13a4
|
UTSW |
16 |
29,413,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4032:Atp13a4
|
UTSW |
16 |
29,418,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4163:Atp13a4
|
UTSW |
16 |
29,541,250 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4652:Atp13a4
|
UTSW |
16 |
29,452,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4772:Atp13a4
|
UTSW |
16 |
29,420,835 (GRCm38) |
intron |
probably benign |
|
|
R4795:Atp13a4
|
UTSW |
16 |
29,490,008 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4898:Atp13a4
|
UTSW |
16 |
29,408,961 (GRCm38) |
nonsense |
probably null |
|
|
R4996:Atp13a4
|
UTSW |
16 |
29,472,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5112:Atp13a4
|
UTSW |
16 |
29,409,868 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5259:Atp13a4
|
UTSW |
16 |
29,456,610 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5395:Atp13a4
|
UTSW |
16 |
29,456,604 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5395:Atp13a4
|
UTSW |
16 |
29,420,888 (GRCm38) |
nonsense |
probably null |
|
|
R5640:Atp13a4
|
UTSW |
16 |
29,415,831 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5809:Atp13a4
|
UTSW |
16 |
29,433,987 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5856:Atp13a4
|
UTSW |
16 |
29,433,987 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5912:Atp13a4
|
UTSW |
16 |
29,456,571 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6404:Atp13a4
|
UTSW |
16 |
29,471,901 (GRCm38) |
nonsense |
probably null |
|
|
R6497:Atp13a4
|
UTSW |
16 |
29,479,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6577:Atp13a4
|
UTSW |
16 |
29,479,841 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6806:Atp13a4
|
UTSW |
16 |
29,469,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7229:Atp13a4
|
UTSW |
16 |
29,420,905 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7438:Atp13a4
|
UTSW |
16 |
29,441,196 (GRCm38) |
missense |
|
|
|
R7493:Atp13a4
|
UTSW |
16 |
29,471,956 (GRCm38) |
missense |
|
|
|
R7712:Atp13a4
|
UTSW |
16 |
29,459,487 (GRCm38) |
missense |
|
|
|
R7739:Atp13a4
|
UTSW |
16 |
29,456,601 (GRCm38) |
missense |
|
|
|
R7897:Atp13a4
|
UTSW |
16 |
29,396,466 (GRCm38) |
missense |
|
|
|
R7950:Atp13a4
|
UTSW |
16 |
29,449,917 (GRCm38) |
missense |
|
|
|
R8217:Atp13a4
|
UTSW |
16 |
29,403,801 (GRCm38) |
missense |
|
|
|
R8227:Atp13a4
|
UTSW |
16 |
29,403,845 (GRCm38) |
missense |
|
|
|
R8273:Atp13a4
|
UTSW |
16 |
29,471,902 (GRCm38) |
missense |
|
|
|
R8488:Atp13a4
|
UTSW |
16 |
29,417,836 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R8508:Atp13a4
|
UTSW |
16 |
29,454,769 (GRCm38) |
nonsense |
probably null |
|
|
R8773:Atp13a4
|
UTSW |
16 |
29,441,580 (GRCm38) |
missense |
|
|
|
R8921:Atp13a4
|
UTSW |
16 |
29,454,774 (GRCm38) |
missense |
|
|
|
R8940:Atp13a4
|
UTSW |
16 |
29,454,690 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9056:Atp13a4
|
UTSW |
16 |
29,471,888 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9272:Atp13a4
|
UTSW |
16 |
29,449,979 (GRCm38) |
missense |
|
|
|
R9292:Atp13a4
|
UTSW |
16 |
29,422,682 (GRCm38) |
missense |
|
|
|
R9415:Atp13a4
|
UTSW |
16 |
29,409,003 (GRCm38) |
missense |
|
|
|
R9453:Atp13a4
|
UTSW |
16 |
29,420,841 (GRCm38) |
missense |
unknown |
|
|
R9497:Atp13a4
|
UTSW |
16 |
29,469,312 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9541:Atp13a4
|
UTSW |
16 |
29,422,726 (GRCm38) |
missense |
|
|
|
R9614:Atp13a4
|
UTSW |
16 |
29,441,580 (GRCm38) |
missense |
|
|
|
R9622:Atp13a4
|
UTSW |
16 |
29,420,459 (GRCm38) |
missense |
|
|
|
R9727:Atp13a4
|
UTSW |
16 |
29,409,771 (GRCm38) |
missense |
|
|
|
Z1176:Atp13a4
|
UTSW |
16 |
29,422,587 (GRCm38) |
missense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCTCACGGGATAGATGC -3'
(R):5'- TGGGGCAACTCTGTCTTTGAC -3'
Sequencing Primer
(F):5'- AGATGCTTGATGAATAGCTTGCCC -3'
(R):5'- GCAACTCTGTCTTTGACTATCATTAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation