Incidental Mutation 'IGL01508:Lkaaear1'
| ID |
89110 |
| 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 # |
IGL01508
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181338586-181340235 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 181338830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 169
(T169A)
|
| 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: T169A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000061134
Gene: ENSMUSG00000045794
AA Change: T169A
| 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: T80A
|
| SMART Domains |
Protein: ENSMUSP00000116083
Gene: ENSMUSG00000045794
AA Change: T80A
| 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: ENSMUST00000124776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143510
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,636,326 (GRCm39) |
R732* |
probably null |
Het |
| Adarb2 |
C |
A |
13: 8,802,606 (GRCm39) |
|
probably null |
Het |
| Alb |
C |
T |
5: 90,618,697 (GRCm39) |
A430V |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,103,427 (GRCm39) |
F397I |
possibly damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,535 (GRCm39) |
S1518P |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,890,804 (GRCm39) |
Y1830F |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,604,365 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,666,231 (GRCm39) |
S599G |
probably benign |
Het |
| Dnai4 |
G |
A |
4: 102,929,884 (GRCm39) |
P369L |
possibly damaging |
Het |
| Fbxo3 |
A |
T |
2: 103,864,021 (GRCm39) |
H92L |
probably benign |
Het |
| Ffar2 |
T |
C |
7: 30,518,601 (GRCm39) |
D313G |
probably benign |
Het |
| Fnta |
T |
C |
8: 26,497,294 (GRCm39) |
E185G |
probably damaging |
Het |
| Gdap2 |
C |
T |
3: 100,078,243 (GRCm39) |
T69I |
possibly damaging |
Het |
| Gimap7 |
A |
T |
6: 48,701,230 (GRCm39) |
N272I |
probably damaging |
Het |
| Gin1 |
T |
C |
1: 97,705,162 (GRCm39) |
V84A |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,237,613 (GRCm39) |
L369P |
possibly damaging |
Het |
| Itgax |
C |
T |
7: 127,743,990 (GRCm39) |
T891I |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,116,356 (GRCm39) |
|
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,953,309 (GRCm39) |
V1017A |
probably damaging |
Het |
| Nemf |
A |
C |
12: 69,391,760 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
G |
12: 9,629,370 (GRCm39) |
D81G |
probably damaging |
Het |
| Pate4 |
A |
T |
9: 35,519,602 (GRCm39) |
C29* |
probably null |
Het |
| Prkce |
C |
T |
17: 86,937,513 (GRCm39) |
R649C |
probably damaging |
Het |
| Ptpn5 |
A |
G |
7: 46,741,303 (GRCm39) |
V14A |
probably benign |
Het |
| Rnf166 |
C |
A |
8: 123,197,081 (GRCm39) |
C57F |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,729,680 (GRCm39) |
I1426T |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,773,894 (GRCm39) |
Q424* |
probably null |
Het |
| Ttc27 |
T |
A |
17: 75,142,352 (GRCm39) |
S606T |
probably damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,759,002 (GRCm39) |
S292P |
possibly damaging |
Het |
| Wdr70 |
A |
G |
15: 8,108,747 (GRCm39) |
V133A |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,062,229 (GRCm39) |
F252S |
possibly damaging |
Het |
|
| Other mutations in Lkaaear1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00809:Lkaaear1
|
APN |
2 |
181,339,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-12-03 |
Incidental Mutation