Incidental Mutation 'IGL00578:Atp11c'
| ID |
3123 |
| 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 # |
IGL00578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
59268643-59450041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59286177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 996
(G996R)
|
| 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: G996R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033480
Gene: ENSMUSG00000062949
AA Change: G996R
| 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 |
probably damaging
Transcript: ENSMUST00000101527
AA Change: G996R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099066
Gene: ENSMUSG00000062949
AA Change: G996R
| 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: G996R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119320
Gene: ENSMUSG00000062949
AA Change: G996R
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
A |
G |
11: 5,821,787 (GRCm39) |
T729A |
possibly damaging |
Het |
| Ank3 |
C |
A |
10: 69,838,224 (GRCm39) |
S864Y |
possibly damaging |
Het |
| Ankrd44 |
G |
A |
1: 54,701,806 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,987,755 (GRCm39) |
T250A |
possibly damaging |
Het |
| Cox8a |
T |
A |
19: 7,192,770 (GRCm39) |
Y65F |
probably damaging |
Het |
| Ctnnd1 |
G |
T |
2: 84,439,969 (GRCm39) |
N451K |
probably damaging |
Het |
| D630045J12Rik |
T |
C |
6: 38,171,865 (GRCm39) |
T768A |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,347,612 (GRCm39) |
S999P |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,962 (GRCm39) |
I88T |
probably damaging |
Het |
| Kdm2b |
A |
G |
5: 123,099,630 (GRCm39) |
V103A |
probably damaging |
Het |
| Klk1b26 |
T |
C |
7: 43,666,309 (GRCm39) |
S251P |
probably benign |
Het |
| Krtap16-1 |
A |
G |
11: 99,876,121 (GRCm39) |
S428P |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,569,185 (GRCm39) |
V210I |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 25,119,793 (GRCm39) |
D1018E |
probably damaging |
Het |
| Nxph2 |
T |
A |
2: 23,290,334 (GRCm39) |
C229S |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,398,662 (GRCm39) |
L722P |
probably benign |
Het |
| Rbm12 |
A |
T |
2: 155,937,961 (GRCm39) |
|
probably benign |
Het |
| Rimoc1 |
C |
A |
15: 4,018,118 (GRCm39) |
G186C |
probably damaging |
Het |
| Sfpq |
T |
C |
4: 126,919,700 (GRCm39) |
Y482H |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 177,992,615 (GRCm39) |
|
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,602,834 (GRCm39) |
I866T |
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 |
|
|
IGL01702:Atp11c
|
APN |
X |
59,315,263 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
2012-04-20 |
Incidental Mutation