Incidental Mutation 'IGL00787:Klc2'
| ID |
12699 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klc2
|
| Ensembl Gene |
ENSMUSG00000024862 |
| Gene Name |
kinesin light chain 2 |
| Synonyms |
8030455F02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00787
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5157774-5168326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 5161690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 300
(E300A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025798]
[ENSMUST00000025804]
[ENSMUST00000113727]
[ENSMUST00000113728]
[ENSMUST00000116563]
[ENSMUST00000156717]
|
| AlphaFold |
no structure available at present |
| PDB Structure |
Crystal structure of the TPR domain of kinesin light chain 2 in complex with a tryptophan-acidic cargo peptide [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025798
AA Change: E300A
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000025798
Gene: ENSMUSG00000024862
AA Change: E300A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rab5-bind
|
69 |
239 |
4.1e-64 |
PFAM |
|
Pfam:TPR_10
|
197 |
238 |
9.5e-9 |
PFAM |
|
TPR
|
240 |
273 |
6.19e-1 |
SMART |
|
TPR
|
282 |
315 |
1.16e-5 |
SMART |
|
TPR
|
324 |
357 |
2.16e0 |
SMART |
|
TPR
|
366 |
399 |
1.6e-3 |
SMART |
|
Pfam:TPR_10
|
448 |
483 |
1.5e-4 |
PFAM |
|
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025804
|
| SMART Domains |
Protein: ENSMUSP00000025804
Gene: ENSMUSG00000024870
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
9 |
172 |
4.57e-105 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113727
AA Change: E300A
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000109356
Gene: ENSMUSG00000024862
AA Change: E300A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rab5-bind
|
69 |
239 |
4.1e-64 |
PFAM |
|
Pfam:TPR_10
|
197 |
238 |
9.5e-9 |
PFAM |
|
TPR
|
240 |
273 |
6.19e-1 |
SMART |
|
TPR
|
282 |
315 |
1.16e-5 |
SMART |
|
TPR
|
324 |
357 |
2.16e0 |
SMART |
|
TPR
|
366 |
399 |
1.6e-3 |
SMART |
|
Pfam:TPR_10
|
448 |
483 |
1.5e-4 |
PFAM |
|
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113728
AA Change: E300A
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000109357
Gene: ENSMUSG00000024862
AA Change: E300A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rab5-bind
|
69 |
239 |
4.1e-64 |
PFAM |
|
Pfam:TPR_10
|
197 |
238 |
9.5e-9 |
PFAM |
|
TPR
|
240 |
273 |
6.19e-1 |
SMART |
|
TPR
|
282 |
315 |
1.16e-5 |
SMART |
|
TPR
|
324 |
357 |
2.16e0 |
SMART |
|
TPR
|
366 |
399 |
1.6e-3 |
SMART |
|
Pfam:TPR_10
|
448 |
483 |
1.5e-4 |
PFAM |
|
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116563
AA Change: E300A
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112262
Gene: ENSMUSG00000024862
AA Change: E300A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
80 |
140 |
N/A |
INTRINSIC |
|
Pfam:TPR_10
|
197 |
238 |
3.1e-9 |
PFAM |
|
TPR
|
240 |
273 |
6.19e-1 |
SMART |
|
TPR
|
282 |
315 |
1.16e-5 |
SMART |
|
TPR
|
324 |
357 |
2.16e0 |
SMART |
|
TPR
|
366 |
399 |
1.6e-3 |
SMART |
|
low complexity region
|
416 |
428 |
N/A |
INTRINSIC |
|
Pfam:TPR_10
|
450 |
486 |
1.1e-4 |
PFAM |
|
low complexity region
|
498 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
617 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135827
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142255
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156717
|
| SMART Domains |
Protein: ENSMUSP00000122458
Gene: ENSMUSG00000024862
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rab5-bind
|
69 |
167 |
6.9e-30 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
T |
A |
3: 98,069,486 (GRCm39) |
S440T |
probably benign |
Het |
| Adgrl3 |
T |
G |
5: 81,841,401 (GRCm39) |
N827K |
probably damaging |
Het |
| Ces1c |
A |
T |
8: 93,846,994 (GRCm39) |
S87T |
possibly damaging |
Het |
| Ctdp1 |
C |
A |
18: 80,501,907 (GRCm39) |
|
probably null |
Het |
| Cwh43 |
T |
A |
5: 73,578,832 (GRCm39) |
F280I |
possibly damaging |
Het |
| Dcaf13 |
T |
A |
15: 39,007,027 (GRCm39) |
Y320* |
probably null |
Het |
| Dgkh |
A |
C |
14: 78,855,954 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,022,020 (GRCm39) |
V1161E |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,803,349 (GRCm39) |
R399G |
probably benign |
Het |
| Gpr75 |
T |
A |
11: 30,842,290 (GRCm39) |
F398L |
probably benign |
Het |
| Kif24 |
G |
A |
4: 41,397,583 (GRCm39) |
T525I |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,226,973 (GRCm39) |
|
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,122,198 (GRCm39) |
V171I |
probably benign |
Het |
| Nop2 |
C |
T |
6: 125,110,509 (GRCm39) |
S45L |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,512,854 (GRCm39) |
T579A |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,178,439 (GRCm39) |
S662T |
probably benign |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,288 (GRCm39) |
Y386F |
probably benign |
Het |
|
| Other mutations in Klc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00822:Klc2
|
APN |
19 |
5,161,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01732:Klc2
|
APN |
19 |
5,159,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02374:Klc2
|
APN |
19 |
5,160,438 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02677:Klc2
|
APN |
19 |
5,161,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0042:Klc2
|
UTSW |
19 |
5,163,805 (GRCm39) |
unclassified |
probably benign |
|
|
R0126:Klc2
|
UTSW |
19 |
5,162,774 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1687:Klc2
|
UTSW |
19 |
5,161,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1887:Klc2
|
UTSW |
19 |
5,158,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5620:Klc2
|
UTSW |
19 |
5,162,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6977:Klc2
|
UTSW |
19 |
5,159,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7622:Klc2
|
UTSW |
19 |
5,161,660 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7631:Klc2
|
UTSW |
19 |
5,158,647 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8017:Klc2
|
UTSW |
19 |
5,161,867 (GRCm39) |
missense |
probably benign |
|
|
R8339:Klc2
|
UTSW |
19 |
5,159,562 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8737:Klc2
|
UTSW |
19 |
5,168,477 (GRCm39) |
unclassified |
probably benign |
|
|
R8830:Klc2
|
UTSW |
19 |
5,160,394 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8962:Klc2
|
UTSW |
19 |
5,161,864 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9342:Klc2
|
UTSW |
19 |
5,158,659 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9435:Klc2
|
UTSW |
19 |
5,159,662 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9532:Klc2
|
UTSW |
19 |
5,161,565 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Posted On |
2012-12-06 |
Incidental Mutation