Incidental Mutation 'IGL02374:Klc2'
| ID |
291014 |
| 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 # |
IGL02374
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5157774-5168326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5160438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 408
(N408S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000025798
AA Change: N408S
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025798
Gene: ENSMUSG00000024862
AA Change: N408S
| 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 |
possibly damaging
Transcript: ENSMUST00000113727
AA Change: N408S
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109356
Gene: ENSMUSG00000024862
AA Change: N408S
| 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 |
possibly damaging
Transcript: ENSMUST00000113728
AA Change: N408S
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109357
Gene: ENSMUSG00000024862
AA Change: N408S
| 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 |
possibly damaging
Transcript: ENSMUST00000116563
AA Change: N408S
PolyPhen 2
Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112262
Gene: ENSMUSG00000024862
AA Change: N408S
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5b |
T |
C |
2: 15,073,003 (GRCm39) |
Y35H |
probably damaging |
Het |
| Cnksr3 |
A |
G |
10: 7,070,335 (GRCm39) |
S300P |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,211,486 (GRCm39) |
S1013P |
possibly damaging |
Het |
| Cyp39a1 |
A |
G |
17: 44,060,872 (GRCm39) |
|
probably benign |
Het |
| Deptor |
G |
T |
15: 55,044,357 (GRCm39) |
L174F |
probably damaging |
Het |
| Fah |
T |
C |
7: 84,254,909 (GRCm39) |
E8G |
probably benign |
Het |
| Fastk |
C |
A |
5: 24,649,247 (GRCm39) |
A47S |
possibly damaging |
Het |
| Foxl2 |
C |
T |
9: 98,837,885 (GRCm39) |
L58F |
probably damaging |
Het |
| Gm57858 |
T |
C |
3: 36,074,108 (GRCm39) |
Q347R |
possibly damaging |
Het |
| Igf2bp2 |
G |
T |
16: 21,900,618 (GRCm39) |
H106Q |
probably benign |
Het |
| Igkv12-47 |
T |
C |
6: 69,727,959 (GRCm39) |
T71A |
probably benign |
Het |
| Ino80d |
T |
C |
1: 63,125,220 (GRCm39) |
I81V |
possibly damaging |
Het |
| Ints9 |
G |
A |
14: 65,276,782 (GRCm39) |
E650K |
probably benign |
Het |
| Klhl32 |
A |
T |
4: 24,743,856 (GRCm39) |
|
probably null |
Het |
| Ksr1 |
C |
T |
11: 78,919,317 (GRCm39) |
G504D |
probably benign |
Het |
| Lonp2 |
C |
A |
8: 87,435,673 (GRCm39) |
D636E |
probably damaging |
Het |
| Lpin3 |
G |
A |
2: 160,737,758 (GRCm39) |
|
probably benign |
Het |
| Mcmdc2 |
C |
T |
1: 9,982,207 (GRCm39) |
A56V |
possibly damaging |
Het |
| Or10al7 |
A |
T |
17: 38,366,412 (GRCm39) |
V24D |
probably damaging |
Het |
| Or4p8 |
A |
T |
2: 88,727,803 (GRCm39) |
I46N |
probably damaging |
Het |
| Pex1 |
T |
C |
5: 3,685,481 (GRCm39) |
I1163T |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,599 (GRCm39) |
V772I |
probably damaging |
Het |
| Ptbp2 |
A |
T |
3: 119,514,342 (GRCm39) |
|
probably benign |
Het |
| Rell1 |
A |
T |
5: 64,095,151 (GRCm39) |
I105K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,832,789 (GRCm39) |
S1003T |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,520,832 (GRCm39) |
|
probably benign |
Het |
| Stap1 |
G |
A |
5: 86,244,410 (GRCm39) |
G264R |
probably damaging |
Het |
| Tmem176b |
T |
C |
6: 48,811,560 (GRCm39) |
N30D |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,832,056 (GRCm39) |
Y367N |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,611,815 (GRCm39) |
D1061G |
probably damaging |
Het |
| Ufl1 |
A |
C |
4: 25,259,237 (GRCm39) |
D460E |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,048 (GRCm39) |
I138V |
probably benign |
Het |
| Wdfy2 |
T |
C |
14: 63,171,833 (GRCm39) |
S194P |
probably benign |
Het |
| Zfp408 |
A |
C |
2: 91,476,156 (GRCm39) |
C333G |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,674,731 (GRCm39) |
V565A |
probably 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 |
|
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 |
2015-04-16 |
Incidental Mutation