Incidental Mutation 'R4772:Atp13a4'
| ID |
367635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
9330174J19Rik, 4631413J11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4772 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
29395853-29544864 bp(-) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 29420835 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
unknown
Transcript: ENSMUST00000039090
AA Change: K853R
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: K853R
| 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
|
| SMART Domains |
Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
| 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 |
noncoding transcript
Transcript: ENSMUST00000182357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182573
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182627
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
95% (74/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,315,339 (GRCm38) |
|
probably null |
Het |
| Adamts19 |
A |
G |
18: 58,837,776 (GRCm38) |
Q144R |
possibly damaging |
Het |
| Adgrb3 |
C |
A |
1: 25,531,875 (GRCm38) |
C507F |
probably damaging |
Het |
| Atg9b |
T |
C |
5: 24,385,239 (GRCm38) |
*923W |
probably null |
Het |
| Baz2b |
G |
T |
2: 59,958,451 (GRCm38) |
R697S |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,661,478 (GRCm38) |
I184T |
probably benign |
Het |
| Bpifb4 |
C |
T |
2: 153,942,983 (GRCm38) |
L204F |
possibly damaging |
Het |
| Cep120 |
C |
T |
18: 53,718,489 (GRCm38) |
R577Q |
probably damaging |
Het |
| Cplx4 |
T |
C |
18: 65,969,977 (GRCm38) |
E24G |
possibly damaging |
Het |
| Dcxr |
T |
C |
11: 120,726,097 (GRCm38) |
T147A |
probably benign |
Het |
| Dnajc10 |
C |
A |
2: 80,340,526 (GRCm38) |
H454N |
probably damaging |
Het |
| Dsp |
G |
T |
13: 38,167,528 (GRCm38) |
G108* |
probably null |
Het |
| Entpd6 |
T |
A |
2: 150,767,094 (GRCm38) |
I366K |
probably damaging |
Het |
| Fam111a |
A |
G |
19: 12,587,693 (GRCm38) |
K269E |
probably benign |
Het |
| Grid2ip |
T |
G |
5: 143,375,700 (GRCm38) |
V222G |
possibly damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,445,314 (GRCm38) |
V4421G |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,727,687 (GRCm38) |
T817A |
probably damaging |
Het |
| Irak2 |
A |
T |
6: 113,693,722 (GRCm38) |
E533V |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,865,351 (GRCm38) |
S1297G |
probably damaging |
Het |
| Kbtbd6 |
T |
C |
14: 79,452,156 (GRCm38) |
F97S |
probably damaging |
Het |
| Kctd14 |
A |
T |
7: 97,457,676 (GRCm38) |
E99V |
probably damaging |
Het |
| Klhl10 |
A |
T |
11: 100,447,731 (GRCm38) |
Y432F |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,685,052 (GRCm38) |
N53S |
possibly damaging |
Het |
| Mief2 |
T |
A |
11: 60,730,462 (GRCm38) |
|
probably benign |
Het |
| Mog |
A |
T |
17: 37,023,157 (GRCm38) |
S15T |
unknown |
Het |
| Mpi |
T |
C |
9: 57,544,898 (GRCm38) |
D365G |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,379,983 (GRCm38) |
|
probably null |
Het |
| Nes |
A |
G |
3: 87,976,179 (GRCm38) |
T582A |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 107,181,186 (GRCm38) |
D5G |
probably benign |
Het |
| Nr1i3 |
C |
T |
1: 171,217,150 (GRCm38) |
T218I |
probably damaging |
Het |
| Nup43 |
C |
T |
10: 7,678,669 (GRCm38) |
R339* |
probably null |
Het |
| Nup58 |
T |
A |
14: 60,220,022 (GRCm38) |
R577S |
probably benign |
Het |
| Olfr908 |
C |
T |
9: 38,516,601 (GRCm38) |
|
probably benign |
Het |
| Or4l15 |
AAATTTGAA |
AAA |
14: 49,960,995 (GRCm38) |
|
probably benign |
Het |
| Or52n4b |
T |
A |
7: 108,544,885 (GRCm38) |
M120K |
probably damaging |
Het |
| Or5d35 |
T |
A |
2: 88,024,863 (GRCm38) |
I47K |
probably damaging |
Het |
| Or6c38 |
A |
T |
10: 129,093,668 (GRCm38) |
V102D |
possibly damaging |
Het |
| Or9g20 |
G |
A |
2: 85,799,994 (GRCm38) |
S92F |
probably damaging |
Het |
| Orc1 |
T |
C |
4: 108,579,568 (GRCm38) |
|
probably benign |
Het |
| Pax6 |
C |
A |
2: 105,696,502 (GRCm38) |
P251Q |
probably benign |
Het |
| Phactr3 |
C |
T |
2: 178,283,936 (GRCm38) |
R330W |
probably damaging |
Het |
| Phldb1 |
G |
A |
9: 44,711,027 (GRCm38) |
R81W |
probably damaging |
Het |
| Pip5k1c |
C |
T |
10: 81,315,940 (GRCm38) |
P656L |
probably benign |
Het |
| Pkn3 |
T |
G |
2: 30,084,680 (GRCm38) |
|
probably null |
Het |
| Plcb2 |
T |
A |
2: 118,713,134 (GRCm38) |
H752L |
probably benign |
Het |
| Plch1 |
G |
A |
3: 63,753,325 (GRCm38) |
T291M |
probably damaging |
Het |
| Plekhg1 |
A |
T |
10: 3,873,127 (GRCm38) |
M32L |
probably benign |
Het |
| Plekhg1 |
A |
T |
10: 3,873,130 (GRCm38) |
T33S |
probably damaging |
Het |
| Plk4 |
A |
G |
3: 40,805,190 (GRCm38) |
T174A |
probably damaging |
Het |
| Ppip5k2 |
C |
A |
1: 97,721,067 (GRCm38) |
|
probably benign |
Het |
| Prl2a1 |
G |
A |
13: 27,804,978 (GRCm38) |
V29M |
probably benign |
Het |
| R3hcc1l |
T |
C |
19: 42,583,557 (GRCm38) |
|
probably benign |
Het |
| Rasa3 |
C |
T |
8: 13,598,289 (GRCm38) |
G125D |
probably damaging |
Het |
| Sema3f |
A |
T |
9: 107,689,720 (GRCm38) |
Y136* |
probably null |
Het |
| Slc13a5 |
T |
A |
11: 72,250,846 (GRCm38) |
|
probably null |
Het |
| Slc16a1 |
T |
C |
3: 104,653,564 (GRCm38) |
V395A |
possibly damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,088,490 (GRCm38) |
A466T |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,342,379 (GRCm38) |
|
probably benign |
Het |
| Styxl1 |
G |
A |
5: 135,768,901 (GRCm38) |
R50* |
probably null |
Het |
| Tex264 |
T |
A |
9: 106,673,702 (GRCm38) |
I99F |
possibly damaging |
Het |
| Tgtp2 |
T |
C |
11: 49,058,984 (GRCm38) |
T254A |
probably damaging |
Het |
| Tmem245 |
A |
C |
4: 56,937,989 (GRCm38) |
|
probably null |
Het |
| Tnik |
A |
T |
3: 28,607,210 (GRCm38) |
T587S |
probably benign |
Het |
| Tpr |
T |
G |
1: 150,413,113 (GRCm38) |
S648A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,765,969 (GRCm38) |
E18454G |
probably damaging |
Het |
| Utp20 |
A |
C |
10: 88,809,935 (GRCm38) |
H527Q |
probably benign |
Het |
| Vmn1r1 |
A |
T |
1: 182,157,546 (GRCm38) |
S185T |
probably benign |
Het |
| Vps54 |
C |
T |
11: 21,312,952 (GRCm38) |
H680Y |
probably damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,600,803 (GRCm38) |
|
probably null |
Het |
| Wscd1 |
T |
C |
11: 71,771,976 (GRCm38) |
|
probably null |
Het |
| Zbtb41 |
C |
T |
1: 139,447,414 (GRCm38) |
P871S |
probably damaging |
Het |
| Zcchc4 |
T |
C |
5: 52,796,207 (GRCm38) |
L186P |
possibly damaging |
Het |
| Zdhhc13 |
A |
G |
7: 48,799,873 (GRCm38) |
Y73C |
probably benign |
Het |
| Zfp12 |
A |
G |
5: 143,240,000 (GRCm38) |
E21G |
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 |
|
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 |
|
|
|
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'- ATGGAGAAAGTTTGTTCCCAGTG -3'
(R):5'- TGAGCTTCATAATTGGTCAAGCTC -3'
Sequencing Primer
(F):5'- GTTTGTTCCCAGTGAAATGATTCC -3'
(R):5'- CCTGGTGATTTTCAGCTAG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation