Incidental Mutation 'IGL02176:Ankle1'
| ID |
283127 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankle1
|
| Ensembl Gene |
ENSMUSG00000046295 |
| Gene Name |
ankyrin repeat and LEM domain containing 1 |
| Synonyms |
Ankrd41, 8430438L13Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.392)
|
| Stock # |
IGL02176
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71858654-71862548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 71858903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 45
(H45Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002473]
[ENSMUST00000119976]
[ENSMUST00000120725]
|
| AlphaFold |
A8VU90 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002473
|
| SMART Domains |
Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119976
AA Change: H45Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113162
Gene: ENSMUSG00000046295
AA Change: H45Q
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
6 |
35 |
7.52e2 |
SMART |
|
ANK
|
39 |
71 |
4.01e0 |
SMART |
|
ANK
|
75 |
104 |
2.37e-2 |
SMART |
|
ANK
|
108 |
139 |
1.99e2 |
SMART |
|
low complexity region
|
177 |
193 |
N/A |
INTRINSIC |
|
Pfam:LEM
|
282 |
319 |
4.6e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120725
AA Change: H45Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112797
Gene: ENSMUSG00000046295
AA Change: H45Q
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
6 |
35 |
7.52e2 |
SMART |
|
ANK
|
39 |
71 |
4.01e0 |
SMART |
|
ANK
|
75 |
104 |
2.37e-2 |
SMART |
|
ANK
|
108 |
139 |
1.99e2 |
SMART |
|
low complexity region
|
157 |
173 |
N/A |
INTRINSIC |
|
Pfam:LEM
|
261 |
300 |
1.8e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212383
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous inactivation of this gene causes no overt phenotype or detectable defects in hematopoiesis. Mouse embryonic fibroblasts do not show an impaired DNA damage response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
T |
10: 20,846,815 (GRCm39) |
R415L |
probably benign |
Het |
| Anks1b |
A |
T |
10: 89,878,530 (GRCm39) |
H113L |
probably damaging |
Het |
| Arhgap33 |
T |
A |
7: 30,223,476 (GRCm39) |
H851L |
possibly damaging |
Het |
| Atp12a |
C |
T |
14: 56,624,636 (GRCm39) |
S972L |
probably damaging |
Het |
| Atrip |
T |
C |
9: 108,896,114 (GRCm39) |
D301G |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,505,545 (GRCm39) |
T223A |
probably benign |
Het |
| C3 |
C |
A |
17: 57,533,337 (GRCm39) |
|
probably benign |
Het |
| C8g |
A |
G |
2: 25,389,122 (GRCm39) |
S154P |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 149,019,076 (GRCm39) |
D459G |
probably damaging |
Het |
| Cdca7 |
A |
G |
2: 72,314,988 (GRCm39) |
T293A |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,226,658 (GRCm39) |
D2810V |
probably damaging |
Het |
| CN725425 |
G |
A |
15: 91,130,024 (GRCm39) |
V296I |
probably benign |
Het |
| Col17a1 |
A |
G |
19: 47,639,658 (GRCm39) |
M1077T |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,854,057 (GRCm39) |
H426Q |
probably damaging |
Het |
| Dpp6 |
C |
T |
5: 27,928,575 (GRCm39) |
T799M |
probably damaging |
Het |
| Efs |
C |
T |
14: 55,158,499 (GRCm39) |
G53D |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,890,371 (GRCm39) |
V221A |
probably benign |
Het |
| Gabre |
G |
A |
X: 71,318,259 (GRCm39) |
Q17* |
probably null |
Het |
| Gpld1 |
T |
C |
13: 25,168,192 (GRCm39) |
|
probably null |
Het |
| Gpr107 |
T |
A |
2: 31,058,858 (GRCm39) |
V116D |
probably benign |
Het |
| Huwe1 |
T |
C |
X: 150,686,964 (GRCm39) |
S2283P |
possibly damaging |
Het |
| Ksr1 |
A |
G |
11: 78,911,617 (GRCm39) |
S722P |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,182,661 (GRCm39) |
E532G |
probably damaging |
Het |
| Lrfn1 |
T |
C |
7: 28,158,111 (GRCm39) |
|
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,460,598 (GRCm39) |
D408G |
probably damaging |
Het |
| Mbp |
A |
G |
18: 82,572,670 (GRCm39) |
E122G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,777,836 (GRCm39) |
D1197E |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,220,485 (GRCm39) |
|
probably benign |
Het |
| Or2y17 |
A |
G |
11: 49,232,133 (GRCm39) |
Y258C |
probably benign |
Het |
| Pdcd1lg2 |
A |
G |
19: 29,414,732 (GRCm39) |
E53G |
probably benign |
Het |
| Phex |
G |
T |
X: 156,051,489 (GRCm39) |
A469E |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,019,352 (GRCm39) |
S957P |
probably benign |
Het |
| Ppargc1b |
T |
A |
18: 61,443,946 (GRCm39) |
R406* |
probably null |
Het |
| Ppargc1b |
C |
A |
18: 61,443,945 (GRCm39) |
R422I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Thnsl1 |
G |
T |
2: 21,216,665 (GRCm39) |
A140S |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,235,076 (GRCm39) |
|
probably benign |
Het |
| Tma7 |
T |
A |
9: 108,911,153 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
G |
10: 105,184,354 (GRCm39) |
S514R |
probably benign |
Het |
| Unc79 |
G |
A |
12: 102,965,006 (GRCm39) |
|
probably null |
Het |
| Wdr89 |
A |
T |
12: 75,679,897 (GRCm39) |
I119N |
probably damaging |
Het |
| Wiz |
C |
A |
17: 32,575,876 (GRCm39) |
R843S |
probably damaging |
Het |
| Zfp275 |
T |
A |
X: 72,396,889 (GRCm39) |
S12T |
probably damaging |
Het |
|
| Other mutations in Ankle1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02558:Ankle1
|
APN |
8 |
71,861,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02938:Ankle1
|
APN |
8 |
71,858,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Ankle1
|
UTSW |
8 |
71,860,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1313:Ankle1
|
UTSW |
8 |
71,859,857 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1313:Ankle1
|
UTSW |
8 |
71,859,857 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1681:Ankle1
|
UTSW |
8 |
71,860,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1776:Ankle1
|
UTSW |
8 |
71,861,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2070:Ankle1
|
UTSW |
8 |
71,861,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Ankle1
|
UTSW |
8 |
71,861,973 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2116:Ankle1
|
UTSW |
8 |
71,860,562 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2117:Ankle1
|
UTSW |
8 |
71,860,562 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4610:Ankle1
|
UTSW |
8 |
71,859,851 (GRCm39) |
intron |
probably benign |
|
|
R5027:Ankle1
|
UTSW |
8 |
71,861,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7051:Ankle1
|
UTSW |
8 |
71,860,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7268:Ankle1
|
UTSW |
8 |
71,860,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Ankle1
|
UTSW |
8 |
71,861,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7900:Ankle1
|
UTSW |
8 |
71,860,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7934:Ankle1
|
UTSW |
8 |
71,858,899 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8046:Ankle1
|
UTSW |
8 |
71,860,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8118:Ankle1
|
UTSW |
8 |
71,860,279 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9057:Ankle1
|
UTSW |
8 |
71,858,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9570:Ankle1
|
UTSW |
8 |
71,859,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation