Incidental Mutation 'IGL00809:Lkaaear1'
| ID |
8468 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lkaaear1
|
| Ensembl Gene |
ENSMUSG00000045794 |
| Gene Name |
LKAAEAR motif containing 1 (IKAAEAR murine motif) |
| Synonyms |
4930526D03Rik, LOC277496 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL00809
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181338586-181340235 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 181339127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 108
(S108T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002532]
[ENSMUST00000052416]
[ENSMUST00000108769]
[ENSMUST00000108771]
[ENSMUST00000108772]
[ENSMUST00000108776]
[ENSMUST00000108779]
|
| AlphaFold |
Q8BIG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002532
|
| SMART Domains |
Protein: ENSMUSP00000002532
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
RGS
|
90 |
206 |
2.73e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052416
AA Change: S108T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000061134
Gene: ENSMUSG00000045794
AA Change: S108T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
31 |
N/A |
INTRINSIC |
|
Pfam:LKAAEAR
|
44 |
179 |
1.4e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108769
|
| SMART Domains |
Protein: ENSMUSP00000104400
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
Pfam:RGS
|
90 |
160 |
4.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108771
|
| SMART Domains |
Protein: ENSMUSP00000104402
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
29 |
N/A |
INTRINSIC |
|
RGS
|
68 |
184 |
2.73e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108772
|
| SMART Domains |
Protein: ENSMUSP00000104403
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
29 |
N/A |
INTRINSIC |
|
RGS
|
68 |
184 |
2.73e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108776
|
| SMART Domains |
Protein: ENSMUSP00000104406
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
RGS
|
90 |
206 |
2.73e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108779
|
| SMART Domains |
Protein: ENSMUSP00000104409
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132409
AA Change: S28T
|
| SMART Domains |
Protein: ENSMUSP00000116083
Gene: ENSMUSG00000045794
AA Change: S28T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LKAAEAR
|
1 |
91 |
7.2e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124776
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,092,983 (GRCm39) |
T113A |
possibly damaging |
Het |
| Akap10 |
T |
A |
11: 61,805,897 (GRCm39) |
N277I |
possibly damaging |
Het |
| Ankrd24 |
A |
T |
10: 81,478,901 (GRCm39) |
|
probably benign |
Het |
| Bfsp2 |
T |
C |
9: 103,330,297 (GRCm39) |
E180G |
possibly damaging |
Het |
| Cd55 |
A |
T |
1: 130,380,248 (GRCm39) |
Y243* |
probably null |
Het |
| Col17a1 |
G |
T |
19: 47,669,842 (GRCm39) |
H103Q |
probably damaging |
Het |
| Diaph3 |
A |
T |
14: 87,237,463 (GRCm39) |
H311Q |
probably damaging |
Het |
| Dnah1 |
G |
A |
14: 31,022,766 (GRCm39) |
Q1124* |
probably null |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fzr1 |
G |
T |
10: 81,206,359 (GRCm39) |
S137* |
probably null |
Het |
| Gnl3 |
A |
G |
14: 30,736,146 (GRCm39) |
I298T |
possibly damaging |
Het |
| Hnrnpa2b1 |
C |
T |
6: 51,443,993 (GRCm39) |
G65S |
probably damaging |
Het |
| Hsd17b7 |
A |
T |
1: 169,793,324 (GRCm39) |
Y88* |
probably null |
Het |
| Itga2 |
C |
A |
13: 115,014,161 (GRCm39) |
A256S |
probably damaging |
Het |
| Itga7 |
T |
C |
10: 128,775,038 (GRCm39) |
|
probably null |
Het |
| Ivl |
T |
A |
3: 92,479,819 (GRCm39) |
Q82L |
possibly damaging |
Het |
| Lin28a |
C |
T |
4: 133,735,367 (GRCm39) |
G90S |
probably damaging |
Het |
| Mfsd11 |
T |
A |
11: 116,750,177 (GRCm39) |
S105T |
probably damaging |
Het |
| Osbpl9 |
C |
T |
4: 108,990,960 (GRCm39) |
R100H |
probably damaging |
Het |
| Pals2 |
C |
T |
6: 50,173,569 (GRCm39) |
R478C |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,725,811 (GRCm39) |
D1556E |
unknown |
Het |
| Phip |
G |
A |
9: 82,753,356 (GRCm39) |
S1796F |
probably damaging |
Het |
| Phtf1 |
T |
C |
3: 103,895,983 (GRCm39) |
S226P |
probably benign |
Het |
| Rapgef6 |
C |
A |
11: 54,540,126 (GRCm39) |
Q734K |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,279 (GRCm39) |
I1802N |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,684,038 (GRCm39) |
|
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,970,301 (GRCm39) |
I373V |
probably benign |
Het |
| Ttbk2 |
T |
A |
2: 120,590,750 (GRCm39) |
D303V |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,095,968 (GRCm39) |
I1163T |
probably damaging |
Het |
|
| Other mutations in Lkaaear1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01508:Lkaaear1
|
APN |
2 |
181,338,830 (GRCm39) |
missense |
probably benign |
0.09 |
|
FR4304:Lkaaear1
|
UTSW |
2 |
181,339,372 (GRCm39) |
unclassified |
probably benign |
|
|
FR4340:Lkaaear1
|
UTSW |
2 |
181,339,387 (GRCm39) |
unclassified |
probably benign |
|
|
FR4449:Lkaaear1
|
UTSW |
2 |
181,339,364 (GRCm39) |
unclassified |
probably benign |
|
|
R3430:Lkaaear1
|
UTSW |
2 |
181,339,324 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4994:Lkaaear1
|
UTSW |
2 |
181,339,376 (GRCm39) |
nonsense |
probably null |
|
|
R6683:Lkaaear1
|
UTSW |
2 |
181,339,354 (GRCm39) |
unclassified |
probably benign |
|
|
R6684:Lkaaear1
|
UTSW |
2 |
181,339,354 (GRCm39) |
unclassified |
probably benign |
|
|
R6685:Lkaaear1
|
UTSW |
2 |
181,339,354 (GRCm39) |
unclassified |
probably benign |
|
|
RF007:Lkaaear1
|
UTSW |
2 |
181,339,370 (GRCm39) |
unclassified |
probably benign |
|
|
RF007:Lkaaear1
|
UTSW |
2 |
181,339,352 (GRCm39) |
unclassified |
probably benign |
|
|
RF022:Lkaaear1
|
UTSW |
2 |
181,339,370 (GRCm39) |
unclassified |
probably benign |
|
|
RF029:Lkaaear1
|
UTSW |
2 |
181,339,381 (GRCm39) |
unclassified |
probably benign |
|
|
RF029:Lkaaear1
|
UTSW |
2 |
181,339,372 (GRCm39) |
unclassified |
probably benign |
|
|
RF033:Lkaaear1
|
UTSW |
2 |
181,339,381 (GRCm39) |
unclassified |
probably benign |
|
|
RF036:Lkaaear1
|
UTSW |
2 |
181,339,381 (GRCm39) |
unclassified |
probably benign |
|
|
RF049:Lkaaear1
|
UTSW |
2 |
181,339,367 (GRCm39) |
unclassified |
probably benign |
|
|
RF052:Lkaaear1
|
UTSW |
2 |
181,339,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation