Incidental Mutation 'R9292:Atp13a4'
| ID |
704355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
9330174J19Rik, 4631413J11Rik |
| MMRRC Submission |
|
| Accession Numbers |
Genbank: NM_001164612, NM_172613, NM_001164613 |
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
29395853-29544864 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29422682 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 723
(I723F)
|
| 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: I742F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: I742F
| 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: I723F
| 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: ENSMUST00000182168
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182627
AA Change: I742F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: I742F
| 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 |
|
| Meta Mutation Damage Score |
0.1446 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
T |
5: 8,812,843 (GRCm38) |
T175I |
probably benign |
Het |
| Acat3 |
T |
C |
17: 12,927,368 (GRCm38) |
T243A |
probably benign |
Het |
| Aebp1 |
C |
A |
11: 5,865,260 (GRCm38) |
P264Q |
possibly damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,591,885 (GRCm38) |
F723L |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,466,831 (GRCm38) |
T97A |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,215,547 (GRCm38) |
Y194C |
probably damaging |
Het |
| Cep250 |
G |
A |
2: 155,990,768 (GRCm38) |
E1538K |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,678,523 (GRCm38) |
V1218E |
probably benign |
Het |
| Coq10b |
T |
A |
1: 55,071,709 (GRCm38) |
M212K |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,753,913 (GRCm38) |
T3141A |
probably damaging |
Het |
| Dnajc10 |
A |
G |
2: 80,346,572 (GRCm38) |
T624A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,183,631 (GRCm38) |
|
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,283,718 (GRCm38) |
V892E |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 138,194,071 (GRCm38) |
R1370G |
possibly damaging |
Het |
| Elmo1 |
T |
G |
13: 20,600,259 (GRCm38) |
|
probably null |
Het |
| Erc2 |
T |
A |
14: 27,776,842 (GRCm38) |
I225N |
probably damaging |
Het |
| Ermp1 |
C |
A |
19: 29,628,649 (GRCm38) |
V422L |
probably benign |
Het |
| Fam124b |
T |
A |
1: 80,213,504 (GRCm38) |
H54L |
probably benign |
Het |
| Gabbr1 |
T |
G |
17: 37,055,892 (GRCm38) |
I336S |
possibly damaging |
Het |
| Galk2 |
T |
C |
2: 125,975,298 (GRCm38) |
Y336H |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 142,240,817 (GRCm38) |
|
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,473,063 (GRCm38) |
F194S |
probably damaging |
Het |
| Gtf2a1 |
G |
A |
12: 91,568,190 (GRCm38) |
Q189* |
probably null |
Het |
| Gtf3c1 |
T |
C |
7: 125,674,391 (GRCm38) |
|
probably benign |
Het |
| Hspa2 |
A |
G |
12: 76,405,273 (GRCm38) |
E247G |
probably damaging |
Het |
| Lpar1 |
T |
C |
4: 58,486,558 (GRCm38) |
R238G |
probably benign |
Het |
| Ltbp1 |
C |
A |
17: 75,276,441 (GRCm38) |
S412Y |
probably damaging |
Het |
| Nup210 |
A |
C |
6: 91,074,253 (GRCm38) |
S383A |
possibly damaging |
Het |
| Olfr218 |
C |
T |
1: 173,203,532 (GRCm38) |
P59S |
probably damaging |
Het |
| Olfr744 |
T |
C |
14: 50,619,056 (GRCm38) |
V278A |
possibly damaging |
Het |
| Olfr916 |
T |
A |
9: 38,657,775 (GRCm38) |
N206Y |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,567,356 (GRCm38) |
Y198N |
probably damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,686,660 (GRCm38) |
I421L |
probably benign |
Het |
| Pde6b |
T |
C |
5: 108,388,885 (GRCm38) |
I149T |
probably benign |
Het |
| Peli3 |
G |
A |
19: 4,938,089 (GRCm38) |
P81L |
possibly damaging |
Het |
| Pfdn5 |
T |
C |
15: 102,326,448 (GRCm38) |
S30P |
possibly damaging |
Het |
| Plcb3 |
A |
T |
19: 6,964,674 (GRCm38) |
L263Q |
probably damaging |
Het |
| Pld3 |
T |
C |
7: 27,539,454 (GRCm38) |
M190V |
probably benign |
Het |
| Rab6a |
A |
G |
7: 100,636,756 (GRCm38) |
E186G |
probably benign |
Het |
| Ralyl |
T |
A |
3: 14,107,252 (GRCm38) |
D60E |
probably benign |
Het |
| Rtl1 |
G |
A |
12: 109,590,239 (GRCm38) |
A1722V |
possibly damaging |
Het |
| Scarf1 |
T |
C |
11: 75,515,180 (GRCm38) |
Y97H |
probably damaging |
Het |
| Sf3a2 |
T |
A |
10: 80,804,726 (GRCm38) |
V457E |
unknown |
Het |
| Sh2d4b |
C |
G |
14: 40,815,957 (GRCm38) |
E403Q |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,784,588 (GRCm38) |
E65G |
possibly damaging |
Het |
| Spink5 |
T |
C |
18: 44,015,008 (GRCm38) |
V905A |
possibly damaging |
Het |
| Spred1 |
T |
C |
2: 117,175,351 (GRCm38) |
F198S |
probably benign |
Het |
| St18 |
C |
A |
1: 6,827,882 (GRCm38) |
T636K |
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,301,450 (GRCm38) |
D874E |
probably benign |
Het |
| Suco |
T |
C |
1: 161,844,005 (GRCm38) |
T502A |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,403,036 (GRCm38) |
I457V |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,951,049 (GRCm38) |
C2266F |
probably benign |
Het |
| Tcirg1 |
T |
C |
19: 3,897,840 (GRCm38) |
N532D |
probably damaging |
Het |
| Tfdp1 |
T |
A |
8: 13,370,580 (GRCm38) |
N136K |
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,926,173 (GRCm38) |
|
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,937,979 (GRCm38) |
I190V |
probably benign |
Het |
| Trp53bp1 |
C |
T |
2: 121,215,696 (GRCm38) |
V1208M |
probably damaging |
Het |
| Tulp1 |
T |
A |
17: 28,363,764 (GRCm38) |
K137* |
probably null |
Het |
| Zfp534 |
A |
T |
4: 147,674,638 (GRCm38) |
C525S |
probably damaging |
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 |
|
R6282:Atp13a4
|
UTSW |
16 |
29,434,004 (GRCm38) |
missense |
probably benign |
0.00 |
|
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 |
|
|
|
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'- CCTGGAGAAGTTCATTGACTTGG -3'
(R):5'- TGGTCAGGCTGAAACAACC -3'
Sequencing Primer
(F):5'- GGGGTTGCCTCAAAACTTG -3'
(R):5'- AGGCTGAAACAACCTTAGTAATTATC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation