Incidental Mutation 'IGL02677:Klc2'
ID |
303163 |
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 # |
IGL02677
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
5157774-5168326 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5161696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 298
(Y298C)
|
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 damaging
Transcript: ENSMUST00000025798
AA Change: Y298C
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000025798 Gene: ENSMUSG00000024862 AA Change: Y298C
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 damaging
Transcript: ENSMUST00000113727
AA Change: Y298C
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000109356 Gene: ENSMUSG00000024862 AA Change: Y298C
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 damaging
Transcript: ENSMUST00000113728
AA Change: Y298C
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000109357 Gene: ENSMUSG00000024862 AA Change: Y298C
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 damaging
Transcript: ENSMUST00000116563
AA Change: Y298C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000112262 Gene: ENSMUSG00000024862 AA Change: Y298C
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 |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
G |
T |
7: 43,150,519 (GRCm39) |
Y84* |
probably null |
Het |
Adam5 |
A |
G |
8: 25,302,395 (GRCm39) |
|
probably benign |
Het |
Aipl1 |
T |
C |
11: 71,920,222 (GRCm39) |
E282G |
possibly damaging |
Het |
Akp3 |
A |
G |
1: 87,052,994 (GRCm39) |
D61G |
probably damaging |
Het |
Anpep |
A |
G |
7: 79,488,478 (GRCm39) |
S451P |
probably damaging |
Het |
Csnka2ip |
A |
G |
16: 64,298,675 (GRCm39) |
L119P |
probably damaging |
Het |
Ddx19a |
T |
C |
8: 111,716,241 (GRCm39) |
E53G |
probably benign |
Het |
Ddx50 |
C |
T |
10: 62,452,072 (GRCm39) |
R116Q |
unknown |
Het |
Ddx60 |
A |
T |
8: 62,441,166 (GRCm39) |
E1078D |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,396,368 (GRCm39) |
D116G |
probably damaging |
Het |
Dsg4 |
A |
G |
18: 20,597,933 (GRCm39) |
T668A |
possibly damaging |
Het |
Dspp |
A |
G |
5: 104,323,843 (GRCm39) |
T329A |
possibly damaging |
Het |
Eftud2 |
T |
C |
11: 102,737,440 (GRCm39) |
T554A |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,555,083 (GRCm39) |
|
probably benign |
Het |
Ext2 |
A |
T |
2: 93,537,590 (GRCm39) |
F599I |
probably damaging |
Het |
Fahd1 |
A |
T |
17: 25,068,504 (GRCm39) |
I191N |
probably damaging |
Het |
Fcrl2 |
A |
T |
3: 87,166,694 (GRCm39) |
S100T |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,692,883 (GRCm39) |
C181S |
probably damaging |
Het |
Garre1 |
T |
A |
7: 33,941,834 (GRCm39) |
|
probably benign |
Het |
Gcnt4 |
A |
G |
13: 97,083,741 (GRCm39) |
I346V |
probably benign |
Het |
Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
Kcnma1 |
A |
G |
14: 23,513,224 (GRCm39) |
Y392H |
probably damaging |
Het |
Lamb3 |
G |
A |
1: 193,021,830 (GRCm39) |
V1011I |
probably benign |
Het |
Ldb1 |
T |
C |
19: 46,024,594 (GRCm39) |
|
probably benign |
Het |
Mcph1 |
A |
G |
8: 18,675,609 (GRCm39) |
K11E |
probably damaging |
Het |
Myc |
A |
G |
15: 61,861,513 (GRCm39) |
H374R |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,391,344 (GRCm39) |
Y853C |
probably damaging |
Het |
Or4k38 |
A |
T |
2: 111,166,147 (GRCm39) |
I92N |
probably damaging |
Het |
Pakap |
C |
T |
4: 57,856,263 (GRCm39) |
P572S |
probably benign |
Het |
Pclo |
A |
G |
5: 14,726,943 (GRCm39) |
|
probably benign |
Het |
Pde3a |
G |
A |
6: 141,350,898 (GRCm39) |
|
probably benign |
Het |
Per1 |
T |
C |
11: 68,997,486 (GRCm39) |
V887A |
probably benign |
Het |
Prokr1 |
G |
A |
6: 87,565,350 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,319,643 (GRCm39) |
I1021V |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,810,033 (GRCm39) |
E344G |
probably benign |
Het |
Sec24c |
A |
T |
14: 20,739,710 (GRCm39) |
D529V |
probably damaging |
Het |
Slc1a6 |
T |
C |
10: 78,624,898 (GRCm39) |
V101A |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tap2 |
G |
A |
17: 34,431,021 (GRCm39) |
V374M |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,061,108 (GRCm39) |
D179E |
probably benign |
Het |
Tmem8b |
T |
C |
4: 43,686,092 (GRCm39) |
L241P |
probably damaging |
Het |
Tmprss11g |
T |
C |
5: 86,640,149 (GRCm39) |
D160G |
probably benign |
Het |
Trim30a |
C |
T |
7: 104,085,120 (GRCm39) |
C30Y |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,601,840 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
G |
1: 188,466,882 (GRCm39) |
R2849G |
probably damaging |
Het |
Usp5 |
A |
G |
6: 124,796,389 (GRCm39) |
V570A |
probably damaging |
Het |
Vipr1 |
T |
C |
9: 121,489,349 (GRCm39) |
|
probably benign |
Het |
Zc2hc1c |
A |
C |
12: 85,336,850 (GRCm39) |
D169A |
probably benign |
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 |
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 |
2015-04-16 |