Incidental Mutation 'IGL01702:Atp11c'
| ID |
104504 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atp11c
|
| Ensembl Gene |
ENSMUSG00000062949 |
| Gene Name |
ATPase, class VI, type 11C |
| Synonyms |
A330005H02Rik, Ig |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
IGL01702
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
59268643-59450041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59315263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 683
(S683T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033480]
[ENSMUST00000101527]
[ENSMUST00000154051]
|
| AlphaFold |
Q9QZW0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033480
AA Change: S683T
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000033480
Gene: ENSMUSG00000062949
AA Change: S683T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
94 |
379 |
5.2e-18 |
PFAM |
|
Pfam:Hydrolase
|
403 |
827 |
1.6e-12 |
PFAM |
|
Pfam:HAD
|
406 |
825 |
9.2e-21 |
PFAM |
|
Pfam:Hydrolase_like2
|
467 |
576 |
1.3e-14 |
PFAM |
|
low complexity region
|
853 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
994 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1068 |
1085 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101527
AA Change: S683T
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099066
Gene: ENSMUSG00000062949
AA Change: S683T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
94 |
379 |
1.2e-17 |
PFAM |
|
Pfam:Hydrolase
|
403 |
827 |
1.8e-12 |
PFAM |
|
Pfam:HAD
|
406 |
825 |
1.4e-20 |
PFAM |
|
Pfam:Hydrolase_like2
|
467 |
576 |
3.7e-14 |
PFAM |
|
low complexity region
|
853 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
994 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1068 |
1085 |
N/A |
INTRINSIC |
|
low complexity region
|
1091 |
1105 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133295
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138569
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154051
AA Change: S683T
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119320
Gene: ENSMUSG00000062949
AA Change: S683T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
22 |
91 |
2.6e-25 |
PFAM |
|
Pfam:E1-E2_ATPase
|
96 |
371 |
2.7e-13 |
PFAM |
|
Pfam:Hydrolase
|
403 |
725 |
2.4e-7 |
PFAM |
|
Pfam:HAD
|
406 |
825 |
3.4e-19 |
PFAM |
|
Pfam:Cation_ATPase
|
467 |
576 |
8.6e-14 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
842 |
1094 |
3.4e-71 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous or hemizygous for an ENU mutation exhibit decreased B cells associated with arrested adult B cell lymphopoiesis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Gene trapped(4) |
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7a |
T |
C |
15: 77,273,886 (GRCm39) |
|
probably null |
Het |
| Asb2 |
C |
T |
12: 103,302,164 (GRCm39) |
G128E |
possibly damaging |
Het |
| Brinp3 |
A |
G |
1: 146,627,735 (GRCm39) |
|
probably benign |
Het |
| Cpeb3 |
A |
T |
19: 37,103,782 (GRCm39) |
M369K |
possibly damaging |
Het |
| Exoc5 |
A |
T |
14: 49,253,072 (GRCm39) |
C580* |
probably null |
Het |
| Gm9956 |
A |
G |
10: 56,621,335 (GRCm39) |
|
|
Het |
| Gzmk |
C |
T |
13: 113,317,084 (GRCm39) |
V32I |
probably damaging |
Het |
| Hsf4 |
T |
C |
8: 105,998,221 (GRCm39) |
I129T |
probably damaging |
Het |
| Igkv1-115 |
T |
A |
6: 68,138,516 (GRCm39) |
W40R |
probably damaging |
Het |
| Iqub |
A |
T |
6: 24,500,312 (GRCm39) |
M314K |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,389,099 (GRCm39) |
T78A |
probably benign |
Het |
| Med28 |
T |
C |
5: 45,682,633 (GRCm39) |
S100P |
probably benign |
Het |
| Prx |
G |
A |
7: 27,219,212 (GRCm39) |
V1238I |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,353,727 (GRCm39) |
N2263S |
probably benign |
Het |
| Rab12 |
A |
G |
17: 66,826,384 (GRCm39) |
F61S |
probably damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,387,006 (GRCm39) |
F358S |
probably damaging |
Het |
| Slc25a3 |
A |
T |
10: 90,953,987 (GRCm39) |
Y242N |
probably damaging |
Het |
| Smtnl1 |
T |
C |
2: 84,649,034 (GRCm39) |
I73M |
possibly damaging |
Het |
| Tnp1 |
C |
A |
1: 73,054,877 (GRCm39) |
|
probably benign |
Het |
| Trim5 |
T |
C |
7: 103,928,638 (GRCm39) |
E101G |
probably damaging |
Het |
|
| Other mutations in Atp11c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
18nih30a
|
APN |
X |
36,608,577 (GRCm38) |
unclassified |
probably benign |
|
|
ambrosius
|
APN |
X |
36,608,577 (GRCm38) |
unclassified |
probably benign |
|
|
IGL00578:Atp11c
|
APN |
X |
59,286,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
emptyhive
|
UTSW |
X |
59,315,347 (GRCm39) |
nonsense |
probably null |
|
|
hit
|
UTSW |
X |
0 () |
nonsense |
|
|
|
spelling
|
UTSW |
X |
59,335,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1551:Atp11c
|
UTSW |
X |
59,282,072 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2134:Atp11c
|
UTSW |
X |
59,322,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3687:Atp11c
|
UTSW |
X |
59,327,004 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3688:Atp11c
|
UTSW |
X |
59,327,004 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4496:Atp11c
|
UTSW |
X |
59,326,104 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2014-01-21 |
Incidental Mutation