Incidental Mutation 'R1313:Ankle1'
| ID |
175057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankle1
|
| Ensembl Gene |
ENSMUSG00000046295 |
| Gene Name |
ankyrin repeat and LEM domain containing 1 |
| Synonyms |
Ankrd41, 8430438L13Rik |
| MMRRC Submission |
039379-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R1313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71858654-71862548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71859857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 145
(E145G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113162
(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 |
possibly damaging
Transcript: ENSMUST00000119976
AA Change: E145G
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113162
Gene: ENSMUSG00000046295
AA Change: E145G
| 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 benign
Transcript: ENSMUST00000120725
|
| SMART Domains |
Protein: ENSMUSP00000112797
Gene: ENSMUSG00000046295
| 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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.7%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp2 |
A |
G |
11: 78,156,498 (GRCm39) |
T226A |
probably benign |
Het |
| C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
| Cep250 |
C |
T |
2: 155,813,999 (GRCm39) |
A589V |
probably damaging |
Het |
| Clhc1 |
A |
G |
11: 29,521,678 (GRCm39) |
I404V |
probably benign |
Het |
| Ddi1 |
T |
C |
9: 6,265,769 (GRCm39) |
E200G |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,011,550 (GRCm39) |
S1236P |
probably damaging |
Het |
| Dpyd |
G |
T |
3: 118,692,810 (GRCm39) |
|
probably benign |
Het |
| Ercc6 |
C |
T |
14: 32,274,677 (GRCm39) |
|
probably benign |
Het |
| Gatb |
A |
G |
3: 85,561,133 (GRCm39) |
I550V |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hnrnpul1 |
G |
T |
7: 25,422,341 (GRCm39) |
|
probably benign |
Het |
| Ints1 |
T |
C |
5: 139,748,661 (GRCm39) |
T1049A |
probably benign |
Het |
| Lilrb4a |
C |
T |
10: 51,356,832 (GRCm39) |
T6I |
probably benign |
Het |
| Mocs1 |
A |
T |
17: 49,761,297 (GRCm39) |
T464S |
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,775,955 (GRCm39) |
S816P |
probably damaging |
Het |
| Ogfr |
T |
C |
2: 180,236,423 (GRCm39) |
L336P |
probably benign |
Het |
| Or5p53 |
A |
T |
7: 107,532,975 (GRCm39) |
M83L |
probably benign |
Het |
| Psapl1 |
C |
A |
5: 36,362,610 (GRCm39) |
Q401K |
probably benign |
Het |
| Rps26-ps1 |
T |
A |
8: 108,166,089 (GRCm39) |
|
probably benign |
Het |
| Sh3rf3 |
C |
A |
10: 58,907,821 (GRCm39) |
Q450K |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stat1 |
C |
T |
1: 52,195,165 (GRCm39) |
T720I |
probably damaging |
Het |
| Vav1 |
G |
A |
17: 57,616,498 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCAGTTCTGTTTGTACATCTATCG -3'
(R):5'- AGTGTAGCCAGACTCTGAATACCACC -3'
Sequencing Primer
(F):5'- GTACATCTATCGTGTCAATCACTATC -3'
(R):5'- TTGCAGTCAATGTCAGGACC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation