Incidental Mutation 'H8786:Atp13a3'
| ID |
44476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a3
|
| Ensembl Gene |
ENSMUSG00000022533 |
| Gene Name |
ATPase type 13A3 |
| Synonyms |
LOC224088, LOC385637, LOC224087 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.571)
|
| Stock # |
H8786 (G3)
of strain
617
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
30131241-30207674 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 30178543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 164
(C164*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061350]
[ENSMUST00000100013]
[ENSMUST00000229616]
|
| AlphaFold |
Q5XF89 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061350
AA Change: C164*
|
| SMART Domains |
Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533
AA Change: C164*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
13 |
139 |
4.9e-30 |
PFAM |
|
Cation_ATPase_N
|
154 |
227 |
7.24e0 |
SMART |
|
Pfam:E1-E2_ATPase
|
232 |
483 |
5.1e-36 |
PFAM |
|
Pfam:HAD
|
491 |
888 |
7.5e-28 |
PFAM |
|
Pfam:Hydrolase_like2
|
607 |
661 |
6.8e-8 |
PFAM |
|
Pfam:Hydrolase
|
612 |
790 |
6.5e-11 |
PFAM |
|
transmembrane domain
|
931 |
953 |
N/A |
INTRINSIC |
|
transmembrane domain
|
963 |
985 |
N/A |
INTRINSIC |
|
transmembrane domain
|
997 |
1019 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1068 |
1085 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1098 |
1120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1135 |
1153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100013
AA Change: C164*
|
| SMART Domains |
Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533
AA Change: C164*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
13 |
146 |
2.9e-38 |
PFAM |
|
Cation_ATPase_N
|
154 |
227 |
7.24e0 |
SMART |
|
Pfam:E1-E2_ATPase
|
232 |
483 |
7.3e-41 |
PFAM |
|
Pfam:Hydrolase
|
488 |
784 |
1.3e-12 |
PFAM |
|
Pfam:HAD
|
491 |
888 |
1.3e-31 |
PFAM |
|
Pfam:Cation_ATPase
|
612 |
660 |
4.5e-7 |
PFAM |
|
transmembrane domain
|
931 |
953 |
N/A |
INTRINSIC |
|
transmembrane domain
|
963 |
985 |
N/A |
INTRINSIC |
|
transmembrane domain
|
997 |
1019 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1068 |
1085 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1098 |
1120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1135 |
1157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153656
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229616
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,498,905 (GRCm39) |
Y363H |
probably benign |
Het |
| 4933402N03Rik |
T |
A |
7: 130,740,906 (GRCm39) |
R103S |
probably damaging |
Het |
| Aars1 |
A |
G |
8: 111,772,187 (GRCm39) |
D459G |
probably benign |
Het |
| Adam25 |
A |
T |
8: 41,207,261 (GRCm39) |
M176L |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,087,551 (GRCm39) |
I471V |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,931,388 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
T |
A |
13: 98,083,461 (GRCm39) |
Q1136L |
probably damaging |
Het |
| Avl9 |
G |
A |
6: 56,734,295 (GRCm39) |
A625T |
probably damaging |
Het |
| Avpr1a |
A |
T |
10: 122,285,373 (GRCm39) |
M222L |
probably benign |
Het |
| B4galnt4 |
A |
T |
7: 140,651,235 (GRCm39) |
M939L |
probably damaging |
Het |
| B4galt6 |
A |
G |
18: 20,822,001 (GRCm39) |
F331S |
probably benign |
Het |
| C2cd2 |
G |
T |
16: 97,680,840 (GRCm39) |
Q325K |
possibly damaging |
Het |
| Caml |
T |
G |
13: 55,776,409 (GRCm39) |
L216R |
probably damaging |
Het |
| Cd200r4 |
A |
G |
16: 44,653,736 (GRCm39) |
T132A |
possibly damaging |
Het |
| Ces1h |
A |
C |
8: 94,089,550 (GRCm39) |
V283G |
probably damaging |
Het |
| Clptm1 |
A |
T |
7: 19,369,629 (GRCm39) |
V427D |
possibly damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,122 (GRCm39) |
N357I |
possibly damaging |
Het |
| Foxq1 |
C |
G |
13: 31,743,441 (GRCm39) |
S181W |
probably damaging |
Het |
| Gfra2 |
C |
T |
14: 71,215,818 (GRCm39) |
T169M |
possibly damaging |
Het |
| Gm42542 |
T |
C |
6: 68,872,634 (GRCm39) |
|
probably null |
Het |
| Hoxa13 |
CGG |
CGNGG |
6: 52,260,636 (GRCm38) |
|
probably null |
Het |
| Hsd11b1 |
C |
A |
1: 192,922,560 (GRCm39) |
A166S |
probably benign |
Het |
| Kcnab3 |
T |
A |
11: 69,219,093 (GRCm39) |
F101L |
probably damaging |
Het |
| Klf6 |
C |
A |
13: 5,911,790 (GRCm39) |
H51Q |
probably damaging |
Het |
| Krtap4-8 |
G |
A |
11: 99,670,898 (GRCm39) |
P191L |
unknown |
Het |
| Lrrk2 |
T |
A |
15: 91,557,561 (GRCm39) |
N26K |
probably benign |
Het |
| Mrgprd |
T |
C |
7: 144,876,004 (GRCm39) |
S292P |
probably benign |
Het |
| Ms4a8a |
A |
G |
19: 11,053,725 (GRCm39) |
I127T |
possibly damaging |
Het |
| Myo7a |
T |
G |
7: 97,744,985 (GRCm39) |
N280T |
possibly damaging |
Het |
| Nipal4 |
A |
G |
11: 46,041,304 (GRCm39) |
F297S |
probably damaging |
Het |
| Npas1 |
A |
G |
7: 16,195,275 (GRCm39) |
I351T |
possibly damaging |
Het |
| Or12k7 |
A |
G |
2: 36,958,341 (GRCm39) |
E8G |
probably benign |
Het |
| Or4a72 |
C |
A |
2: 89,405,623 (GRCm39) |
G149V |
probably damaging |
Het |
| Or9e1 |
A |
T |
11: 58,732,146 (GRCm39) |
I69F |
probably benign |
Het |
| Parp11 |
A |
G |
6: 127,448,598 (GRCm39) |
T72A |
probably damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,427,396 (GRCm39) |
V300A |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,928,612 (GRCm39) |
E881G |
possibly damaging |
Het |
| Polr2h |
T |
A |
16: 20,539,281 (GRCm39) |
L57* |
probably null |
Het |
| Rela |
T |
A |
19: 5,697,046 (GRCm39) |
S418T |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,180 (GRCm39) |
T838A |
possibly damaging |
Het |
| Sez6l2 |
T |
A |
7: 126,560,955 (GRCm39) |
N413K |
possibly damaging |
Het |
| Slc6a2 |
A |
G |
8: 93,721,268 (GRCm39) |
I466V |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,768,876 (GRCm39) |
C329S |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,077,691 (GRCm39) |
M164V |
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,007,405 (GRCm39) |
V212M |
probably damaging |
Het |
| Sqor |
A |
C |
2: 122,634,288 (GRCm39) |
I142L |
probably benign |
Het |
| Suco |
T |
C |
1: 161,680,420 (GRCm39) |
E317G |
probably damaging |
Het |
| Tlk2 |
T |
A |
11: 105,145,805 (GRCm39) |
I337N |
possibly damaging |
Het |
| Tln1 |
A |
T |
4: 43,544,589 (GRCm39) |
N1113K |
probably damaging |
Het |
| Tmc2 |
A |
G |
2: 130,068,182 (GRCm39) |
Y234C |
probably damaging |
Het |
| Tmem167 |
A |
C |
13: 90,246,585 (GRCm39) |
K36N |
probably damaging |
Het |
| Trim72 |
T |
C |
7: 127,603,963 (GRCm39) |
L103P |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,408,012 (GRCm39) |
|
probably null |
Het |
| Urb1 |
T |
A |
16: 90,566,357 (GRCm39) |
M1477L |
probably benign |
Het |
| Vwa2 |
T |
A |
19: 56,898,164 (GRCm39) |
M721K |
possibly damaging |
Het |
| Zfp143 |
T |
G |
7: 109,693,575 (GRCm39) |
D636E |
probably damaging |
Het |
|
| Other mutations in Atp13a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Atp13a3
|
APN |
16 |
30,170,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00490:Atp13a3
|
APN |
16 |
30,171,172 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01844:Atp13a3
|
APN |
16 |
30,180,781 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01994:Atp13a3
|
APN |
16 |
30,156,336 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02057:Atp13a3
|
APN |
16 |
30,151,182 (GRCm39) |
missense |
probably benign |
|
|
IGL02083:Atp13a3
|
APN |
16 |
30,166,524 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02348:Atp13a3
|
APN |
16 |
30,170,046 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02352:Atp13a3
|
APN |
16 |
30,169,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02359:Atp13a3
|
APN |
16 |
30,169,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02643:Atp13a3
|
APN |
16 |
30,152,614 (GRCm39) |
missense |
probably null |
|
|
IGL02687:Atp13a3
|
APN |
16 |
30,156,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02951:Atp13a3
|
APN |
16 |
30,157,439 (GRCm39) |
splice site |
probably null |
|
|
IGL03190:Atp13a3
|
APN |
16 |
30,141,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
H8562:Atp13a3
|
UTSW |
16 |
30,178,543 (GRCm39) |
nonsense |
probably null |
|
|
PIT4812001:Atp13a3
|
UTSW |
16 |
30,181,396 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0725:Atp13a3
|
UTSW |
16 |
30,170,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Atp13a3
|
UTSW |
16 |
30,173,065 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1208:Atp13a3
|
UTSW |
16 |
30,173,065 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1244:Atp13a3
|
UTSW |
16 |
30,180,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1326:Atp13a3
|
UTSW |
16 |
30,171,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1613:Atp13a3
|
UTSW |
16 |
30,151,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Atp13a3
|
UTSW |
16 |
30,151,092 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1709:Atp13a3
|
UTSW |
16 |
30,134,659 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1733:Atp13a3
|
UTSW |
16 |
30,176,084 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2086:Atp13a3
|
UTSW |
16 |
30,171,116 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2128:Atp13a3
|
UTSW |
16 |
30,173,094 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2421:Atp13a3
|
UTSW |
16 |
30,168,643 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3427:Atp13a3
|
UTSW |
16 |
30,163,411 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3783:Atp13a3
|
UTSW |
16 |
30,173,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4058:Atp13a3
|
UTSW |
16 |
30,173,064 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4059:Atp13a3
|
UTSW |
16 |
30,173,064 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4798:Atp13a3
|
UTSW |
16 |
30,160,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5045:Atp13a3
|
UTSW |
16 |
30,158,694 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5216:Atp13a3
|
UTSW |
16 |
30,159,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5704:Atp13a3
|
UTSW |
16 |
30,140,697 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5876:Atp13a3
|
UTSW |
16 |
30,181,552 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5947:Atp13a3
|
UTSW |
16 |
30,181,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6291:Atp13a3
|
UTSW |
16 |
30,155,061 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6324:Atp13a3
|
UTSW |
16 |
30,151,103 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6328:Atp13a3
|
UTSW |
16 |
30,155,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6372:Atp13a3
|
UTSW |
16 |
30,162,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6446:Atp13a3
|
UTSW |
16 |
30,180,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7016:Atp13a3
|
UTSW |
16 |
30,157,308 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7086:Atp13a3
|
UTSW |
16 |
30,169,881 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7241:Atp13a3
|
UTSW |
16 |
30,171,095 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7589:Atp13a3
|
UTSW |
16 |
30,163,433 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8098:Atp13a3
|
UTSW |
16 |
30,173,115 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8191:Atp13a3
|
UTSW |
16 |
30,168,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8299:Atp13a3
|
UTSW |
16 |
30,152,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8785:Atp13a3
|
UTSW |
16 |
30,169,800 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9109:Atp13a3
|
UTSW |
16 |
30,134,716 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9604:Atp13a3
|
UTSW |
16 |
30,168,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9800:Atp13a3
|
UTSW |
16 |
30,159,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCACTATGTGAGACTGACAGGACG -3'
(R):5'- AGGACTTATTGGTGCAACTTGTGGAAG -3'
Sequencing Primer
(F):5'- tctacccaatacacaacacatcc -3'
(R):5'- GTTGACTCATAAGCTTTGGAAACTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation