Incidental Mutation 'P0042:Klc2'
ID |
7644 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klc2
|
Ensembl Gene |
ENSMUSG00000024862 |
Gene Name |
kinesin light chain 2 |
Synonyms |
8030455F02Rik |
MMRRC Submission |
038290-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
P0042 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
5157774-5168326 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 5163805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025798]
[ENSMUST00000113727]
[ENSMUST00000113728]
[ENSMUST00000116563]
[ENSMUST00000156717]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025798
|
SMART Domains |
Protein: ENSMUSP00000025798 Gene: ENSMUSG00000024862
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: ENSMUST00000113727
|
SMART Domains |
Protein: ENSMUSP00000109356 Gene: ENSMUSG00000024862
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
|
SMART Domains |
Protein: ENSMUSP00000109357 Gene: ENSMUSG00000024862
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
|
SMART Domains |
Protein: ENSMUSP00000112262 Gene: ENSMUSG00000024862
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: ENSMUST00000142255
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149806
|
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 |
- 1x: 81.5%
- 3x: 74.4%
- 10x: 52.2%
- 20x: 29.5%
|
Validation Efficiency |
88% (87/99) |
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: 13 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr3 |
A |
G |
1: 90,142,600 (GRCm39) |
E353G |
probably damaging |
Het |
Cercam |
T |
A |
2: 29,771,095 (GRCm39) |
D497E |
probably damaging |
Het |
Eif5a |
A |
T |
11: 69,808,728 (GRCm39) |
|
probably benign |
Het |
Htr4 |
T |
A |
18: 62,546,748 (GRCm39) |
D100E |
probably damaging |
Het |
Ift172 |
T |
C |
5: 31,418,799 (GRCm39) |
K1172E |
probably benign |
Het |
Inpp5b |
G |
A |
4: 124,691,703 (GRCm39) |
|
probably null |
Het |
Myh13 |
T |
A |
11: 67,225,817 (GRCm39) |
L332M |
probably benign |
Het |
Naca |
T |
C |
10: 127,877,422 (GRCm39) |
|
probably benign |
Het |
Oat |
A |
G |
7: 132,164,374 (GRCm39) |
V238A |
possibly damaging |
Het |
Rabep1 |
A |
G |
11: 70,775,801 (GRCm39) |
|
probably benign |
Het |
Snx13 |
A |
G |
12: 35,157,541 (GRCm39) |
D529G |
probably damaging |
Het |
Urod |
T |
A |
4: 116,850,143 (GRCm39) |
L23F |
probably damaging |
Het |
Zcchc2 |
C |
T |
1: 105,958,727 (GRCm39) |
T1066I |
possibly damaging |
Het |
|
Other mutations in Klc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00787:Klc2
|
APN |
19 |
5,161,690 (GRCm39) |
missense |
probably benign |
0.17 |
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 |
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 |
2012-10-29 |