Incidental Mutation 'IGL02558:Ankle1'
| ID |
298401 |
| 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: 0.338)
|
| Stock # |
IGL02558
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
71858654-71862548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71861636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 438
(F438S)
|
| 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: F458S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113162
Gene: ENSMUSG00000046295
AA Change: F458S
| 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: F438S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112797
Gene: ENSMUSG00000046295
AA Change: F438S
| 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
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
C |
5: 3,632,194 (GRCm39) |
*25C |
probably null |
Het |
| Abca13 |
T |
C |
11: 9,349,387 (GRCm39) |
Y3654H |
probably damaging |
Het |
| Atp10a |
A |
T |
7: 58,469,390 (GRCm39) |
R1080S |
probably damaging |
Het |
| Ccdc51 |
A |
T |
9: 108,921,252 (GRCm39) |
N380Y |
probably damaging |
Het |
| Ccr8 |
A |
T |
9: 119,923,724 (GRCm39) |
I280F |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,107,786 (GRCm39) |
T535A |
probably benign |
Het |
| Cep162 |
G |
T |
9: 87,107,779 (GRCm39) |
T537N |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,964 (GRCm39) |
D35G |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,175,827 (GRCm39) |
S530N |
probably damaging |
Het |
| Col9a3 |
A |
T |
2: 180,248,599 (GRCm39) |
|
probably null |
Het |
| Csf3r |
T |
C |
4: 125,931,928 (GRCm39) |
|
probably benign |
Het |
| Csk |
C |
T |
9: 57,537,546 (GRCm39) |
E123K |
probably benign |
Het |
| Csrnp3 |
G |
A |
2: 65,852,573 (GRCm39) |
E322K |
probably damaging |
Het |
| Ddx11 |
A |
T |
17: 66,455,667 (GRCm39) |
I663F |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 30,996,336 (GRCm39) |
M2667L |
possibly damaging |
Het |
| Foxred1 |
T |
C |
9: 35,121,429 (GRCm39) |
K40E |
probably damaging |
Het |
| Gata2 |
C |
T |
6: 88,176,762 (GRCm39) |
P74S |
probably benign |
Het |
| Gdf10 |
T |
G |
14: 33,645,937 (GRCm39) |
C29G |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,482,848 (GRCm39) |
E3133G |
probably benign |
Het |
| Ints8 |
G |
A |
4: 11,218,771 (GRCm39) |
R784W |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 102,982,144 (GRCm39) |
E1392G |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,781,816 (GRCm39) |
|
noncoding transcript |
Het |
| Myom2 |
A |
T |
8: 15,164,237 (GRCm39) |
D1044V |
probably benign |
Het |
| Nphp4 |
G |
T |
4: 152,639,988 (GRCm39) |
R958L |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,166,859 (GRCm39) |
P293S |
probably damaging |
Het |
| Or10ag60 |
T |
C |
2: 87,437,903 (GRCm39) |
I57T |
probably benign |
Het |
| Or1e17 |
A |
T |
11: 73,831,651 (GRCm39) |
H193L |
probably benign |
Het |
| Plxdc2 |
A |
G |
2: 16,674,409 (GRCm39) |
|
probably benign |
Het |
| Pwp2 |
T |
C |
10: 78,014,899 (GRCm39) |
S362G |
probably damaging |
Het |
| Siglec1 |
G |
T |
2: 130,916,915 (GRCm39) |
S1113R |
possibly damaging |
Het |
| Sirpa |
A |
G |
2: 129,471,989 (GRCm39) |
E472G |
probably damaging |
Het |
| Slc39a4 |
G |
T |
15: 76,498,403 (GRCm39) |
L345M |
probably damaging |
Het |
| Snx27 |
C |
T |
3: 94,410,188 (GRCm39) |
R496Q |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,527,388 (GRCm39) |
H1215R |
possibly damaging |
Het |
| Stau1 |
A |
G |
2: 166,792,768 (GRCm39) |
Y371H |
probably benign |
Het |
| Sult2a1 |
A |
C |
7: 13,566,520 (GRCm39) |
W152G |
probably benign |
Het |
| Syt16 |
A |
T |
12: 74,281,832 (GRCm39) |
K319* |
probably null |
Het |
| Tcf7 |
T |
A |
11: 52,144,797 (GRCm39) |
|
probably benign |
Het |
| Tfdp1 |
A |
G |
8: 13,419,546 (GRCm39) |
N92D |
possibly damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
|
| Other mutations in Ankle1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02176:Ankle1
|
APN |
8 |
71,858,903 (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