Incidental Mutation 'IGL01732:Klc2'
| ID |
105516 |
| 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 # |
IGL01732
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5157774-5168326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5159825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 458
(R458Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025798]
[ENSMUST00000025804]
[ENSMUST00000113727]
[ENSMUST00000113728]
[ENSMUST00000116563]
[ENSMUST00000156717]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025798
AA Change: R458Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025798
Gene: ENSMUSG00000024862
AA Change: R458Q
| 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: R458Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109356
Gene: ENSMUSG00000024862
AA Change: R458Q
| 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: R458Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109357
Gene: ENSMUSG00000024862
AA Change: R458Q
| 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: R460Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112262
Gene: ENSMUSG00000024862
AA Change: R460Q
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh4a1 |
G |
T |
4: 139,369,471 (GRCm39) |
E341* |
probably null |
Het |
| Alpk3 |
A |
G |
7: 80,707,390 (GRCm39) |
R5G |
unknown |
Het |
| Arhgef10l |
C |
T |
4: 140,307,726 (GRCm39) |
V113M |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,852 (GRCm39) |
I1872K |
probably benign |
Het |
| Cdk17 |
C |
A |
10: 93,053,907 (GRCm39) |
P134T |
probably benign |
Het |
| Cerk |
A |
G |
15: 86,030,517 (GRCm39) |
S35P |
possibly damaging |
Het |
| Cfap126 |
T |
C |
1: 170,954,305 (GRCm39) |
V174A |
possibly damaging |
Het |
| Cfhr1 |
T |
C |
1: 139,478,606 (GRCm39) |
T255A |
probably benign |
Het |
| Clcn1 |
A |
G |
6: 42,287,606 (GRCm39) |
|
probably benign |
Het |
| Copz1 |
A |
G |
15: 103,206,318 (GRCm39) |
E151G |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,494,747 (GRCm39) |
Q101* |
probably null |
Het |
| Eri1 |
T |
C |
8: 35,958,397 (GRCm39) |
E12G |
possibly damaging |
Het |
| Fut9 |
A |
G |
4: 25,619,867 (GRCm39) |
F316L |
possibly damaging |
Het |
| Garin1a |
A |
T |
6: 29,285,979 (GRCm39) |
H146L |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,669,396 (GRCm39) |
I816V |
probably benign |
Het |
| Itln1 |
A |
G |
1: 171,362,348 (GRCm39) |
M11T |
probably benign |
Het |
| Lrrc8b |
A |
T |
5: 105,633,826 (GRCm39) |
E766V |
probably damaging |
Het |
| Mmadhc |
A |
T |
2: 50,171,197 (GRCm39) |
I205N |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,732,149 (GRCm39) |
I342V |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,851,195 (GRCm39) |
V796D |
probably damaging |
Het |
| Olfm3 |
A |
C |
3: 114,890,649 (GRCm39) |
D134A |
possibly damaging |
Het |
| Or3a1c |
T |
C |
11: 74,046,279 (GRCm39) |
C100R |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,598,446 (GRCm39) |
I248N |
probably damaging |
Het |
| Or56b2 |
T |
C |
7: 104,337,543 (GRCm39) |
M107T |
possibly damaging |
Het |
| Phldb3 |
A |
G |
7: 24,326,751 (GRCm39) |
E593G |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,589,699 (GRCm39) |
D74E |
probably damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,961,407 (GRCm39) |
D283G |
probably benign |
Het |
| Pnpla6 |
C |
A |
8: 3,572,616 (GRCm39) |
T279N |
probably damaging |
Het |
| Prkcq |
G |
A |
2: 11,265,644 (GRCm39) |
|
probably benign |
Het |
| Rbm11 |
G |
A |
16: 75,397,510 (GRCm39) |
A147T |
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,487,366 (GRCm39) |
K666E |
probably damaging |
Het |
| Selenos |
A |
G |
7: 65,730,137 (GRCm39) |
Y45C |
probably damaging |
Het |
| Septin11 |
A |
G |
5: 93,309,085 (GRCm39) |
Y255C |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,199,702 (GRCm39) |
H273R |
probably benign |
Het |
| Slc35f2 |
A |
G |
9: 53,713,909 (GRCm39) |
D141G |
probably damaging |
Het |
| Sntg2 |
A |
T |
12: 30,362,648 (GRCm39) |
Y33N |
probably damaging |
Het |
| Snx19 |
C |
A |
9: 30,373,649 (GRCm39) |
T904K |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,544,716 (GRCm39) |
Y2244C |
probably damaging |
Het |
| Tescl |
A |
G |
7: 24,032,872 (GRCm39) |
V151A |
probably damaging |
Het |
| Tnrc18 |
C |
T |
5: 142,757,816 (GRCm39) |
V902M |
unknown |
Het |
| Trmt13 |
A |
G |
3: 116,375,113 (GRCm39) |
L465S |
probably damaging |
Het |
| Ube2j2 |
T |
G |
4: 156,041,788 (GRCm39) |
V249G |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,391,273 (GRCm39) |
K4737R |
unknown |
Het |
| Zc3h6 |
T |
C |
2: 128,853,795 (GRCm39) |
I430T |
probably damaging |
Het |
| Zfp750 |
G |
A |
11: 121,403,819 (GRCm39) |
S352L |
probably benign |
Het |
| Zfp819 |
A |
G |
7: 43,265,846 (GRCm39) |
K34E |
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 |
|
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 |
2014-01-21 |
Incidental Mutation