Incidental Mutation 'RF052:Lkaaear1'
| ID |
605159 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF052 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181338586-181340235 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 181339226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 75
(D75N)
|
| 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 damaging
Transcript: ENSMUST00000052416
AA Change: D75N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000061134
Gene: ENSMUSG00000045794
AA Change: D75N
| 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 |
probably benign
Transcript: ENSMUST00000132409
|
| SMART Domains |
Protein: ENSMUSP00000116083
Gene: ENSMUSG00000045794
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LKAAEAR
|
1 |
91 |
7.2e-34 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
CCGCCCACG |
CCGCCCACGCCCACG |
16: 56,447,948 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
CC |
CCACTGGC |
6: 125,099,108 (GRCm39) |
|
probably benign |
Het |
| Chga |
CAG |
CAGAAG |
12: 102,527,675 (GRCm39) |
|
probably benign |
Het |
| Cnpy3 |
CTC |
CTCATC |
17: 47,047,674 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
GGATGTGACAGACACACTGCCCAG |
GGATGTGACAGACACACTGCCCAGTGATGTGACAGACACACTGCCCAG |
9: 86,922,475 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,589 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GGCTCC |
GGCTCCTGCTCC |
X: 71,313,653 (GRCm39) |
|
probably benign |
Het |
| Gm5591 |
CACAGGCAGA |
CA |
7: 38,221,999 (GRCm39) |
|
probably null |
Het |
| Irag2 |
A |
ACCCC |
6: 145,106,257 (GRCm39) |
|
probably benign |
Het |
| Map1a |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,776 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
ACGTTAGCAGTGAGGAGCAAGCTGAGA |
ACGTTAGCAGTGAGGAGCAAGCTGAGATACGCGTTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,065 (GRCm39) |
|
probably benign |
Het |
| Prp2 |
AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC |
AGAGACCCCCTCAAGGCCCACCACC |
6: 132,577,475 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
CATGGTCCTGTAGAGCAATGGGGATTC |
CATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTAATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,775 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
CTGTAGAGCAATGGGGATTC |
CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC |
5: 90,756,782 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
G |
GTGGTGGTGT |
7: 127,384,529 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
AGCAGC |
AGCAGCCGCAGC |
3: 54,635,086 (GRCm39) |
|
probably benign |
Het |
| Tnfaip8 |
ACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
AC |
18: 50,179,900 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGATGCACTGGGTCCTCTC -3'
(R):5'- CCTTTTCTTCCACAGACCGGAG -3'
Sequencing Primer
(F):5'- ATTCGGGTGTAGCGCAAC -3'
(R):5'- CATGCCGACCCTGGGAGTAAAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation