Incidental Mutation 'IGL03062:Klc3'
ID |
409488 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klc3
|
Ensembl Gene |
ENSMUSG00000040714 |
Gene Name |
kinesin light chain 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.140)
|
Stock # |
IGL03062
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
19128362-19138029 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 19128987 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Tryptophan
at position 461
(G461W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104097
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047170]
[ENSMUST00000062831]
[ENSMUST00000108457]
[ENSMUST00000108458]
[ENSMUST00000108459]
[ENSMUST00000108460]
[ENSMUST00000108461]
|
AlphaFold |
Q91W40 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047170
AA Change: G461W
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000038091 Gene: ENSMUSG00000040714 AA Change: G461W
Domain | Start | End | E-Value | Type |
Pfam:Rab5-bind
|
79 |
248 |
1.1e-56 |
PFAM |
Pfam:TPR_10
|
206 |
247 |
1.7e-6 |
PFAM |
TPR
|
249 |
282 |
1.66e-1 |
SMART |
TPR
|
291 |
324 |
1.89e-5 |
SMART |
TPR
|
333 |
366 |
1.66e-1 |
SMART |
TPR
|
375 |
408 |
2.55e-2 |
SMART |
low complexity region
|
450 |
466 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000062831
|
SMART Domains |
Protein: ENSMUSP00000054380 Gene: ENSMUSG00000030400
Domain | Start | End | E-Value | Type |
DEXDc
|
8 |
280 |
1.62e-144 |
SMART |
Blast:DEXDc2
|
340 |
369 |
3e-10 |
BLAST |
Blast:DEXDc
|
412 |
467 |
9e-27 |
BLAST |
HELICc
|
542 |
686 |
1.32e-76 |
SMART |
low complexity region
|
733 |
751 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108457
AA Change: G461W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000104097 Gene: ENSMUSG00000040714 AA Change: G461W
Domain | Start | End | E-Value | Type |
Pfam:Rab5-bind
|
79 |
248 |
1.7e-57 |
PFAM |
Pfam:TPR_10
|
206 |
247 |
3.2e-6 |
PFAM |
TPR
|
249 |
282 |
1.66e-1 |
SMART |
TPR
|
291 |
324 |
1.89e-5 |
SMART |
TPR
|
333 |
366 |
1.66e-1 |
SMART |
TPR
|
375 |
408 |
2.55e-2 |
SMART |
low complexity region
|
450 |
466 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108458
AA Change: G461W
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104098 Gene: ENSMUSG00000040714 AA Change: G461W
Domain | Start | End | E-Value | Type |
Pfam:Rab5-bind
|
79 |
248 |
1.1e-56 |
PFAM |
Pfam:TPR_10
|
206 |
247 |
1.7e-6 |
PFAM |
TPR
|
249 |
282 |
1.66e-1 |
SMART |
TPR
|
291 |
324 |
1.89e-5 |
SMART |
TPR
|
333 |
366 |
1.66e-1 |
SMART |
TPR
|
375 |
408 |
2.55e-2 |
SMART |
low complexity region
|
450 |
466 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108459
AA Change: G461W
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104099 Gene: ENSMUSG00000040714 AA Change: G461W
Domain | Start | End | E-Value | Type |
coiled coil region
|
88 |
150 |
N/A |
INTRINSIC |
low complexity region
|
157 |
173 |
N/A |
INTRINSIC |
low complexity region
|
181 |
202 |
N/A |
INTRINSIC |
Pfam:TPR_10
|
206 |
247 |
5.6e-7 |
PFAM |
TPR
|
249 |
282 |
1.66e-1 |
SMART |
TPR
|
291 |
324 |
1.89e-5 |
SMART |
TPR
|
333 |
366 |
1.66e-1 |
SMART |
TPR
|
375 |
408 |
2.55e-2 |
SMART |
low complexity region
|
450 |
466 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108460
|
SMART Domains |
Protein: ENSMUSP00000104100 Gene: ENSMUSG00000030400
Domain | Start | End | E-Value | Type |
DEXDc
|
8 |
259 |
1.7e-120 |
SMART |
Blast:DEXDc2
|
319 |
348 |
3e-10 |
BLAST |
Blast:DEXDc
|
391 |
446 |
8e-27 |
BLAST |
HELICc
|
521 |
665 |
1.32e-76 |
SMART |
low complexity region
|
712 |
730 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108461
|
SMART Domains |
Protein: ENSMUSP00000104101 Gene: ENSMUSG00000030400
Domain | Start | End | E-Value | Type |
Pfam:DUF1227
|
16 |
161 |
4.5e-60 |
PFAM |
Blast:HELICc2
|
193 |
262 |
1e-40 |
BLAST |
HELICc
|
290 |
434 |
1.32e-76 |
SMART |
low complexity region
|
481 |
499 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125246
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135693
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145039
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128167
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129291
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129249
|
SMART Domains |
Protein: ENSMUSP00000117840 Gene: ENSMUSG00000030400
Domain | Start | End | E-Value | Type |
DEXDc
|
10 |
204 |
1.14e-71 |
SMART |
Blast:DEXDc2
|
264 |
293 |
2e-10 |
BLAST |
Blast:DEXDc
|
336 |
391 |
5e-27 |
BLAST |
HELICc
|
466 |
610 |
1.32e-76 |
SMART |
low complexity region
|
657 |
675 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,681,054 (GRCm39) |
R714Q |
possibly damaging |
Het |
Abcb5 |
T |
A |
12: 118,899,822 (GRCm39) |
I282L |
probably benign |
Het |
Aox1 |
A |
T |
1: 58,117,624 (GRCm39) |
E835D |
probably benign |
Het |
Arhgap17 |
C |
T |
7: 122,921,097 (GRCm39) |
|
probably null |
Het |
Bltp1 |
T |
C |
3: 37,092,666 (GRCm39) |
|
probably benign |
Het |
Calcr |
C |
T |
6: 3,693,718 (GRCm39) |
V359I |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,741,895 (GRCm39) |
|
probably benign |
Het |
Col28a1 |
T |
C |
6: 8,017,029 (GRCm39) |
|
probably benign |
Het |
Dnajc11 |
A |
G |
4: 152,055,318 (GRCm39) |
E171G |
possibly damaging |
Het |
Efhd1 |
T |
C |
1: 87,192,406 (GRCm39) |
F79L |
possibly damaging |
Het |
Fam83a |
A |
T |
15: 57,856,473 (GRCm39) |
|
probably null |
Het |
Fam98a |
A |
G |
17: 75,847,100 (GRCm39) |
|
probably benign |
Het |
Ficd |
A |
G |
5: 113,876,314 (GRCm39) |
Y163C |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,327,167 (GRCm39) |
S66P |
probably damaging |
Het |
Fmo5 |
A |
G |
3: 97,542,909 (GRCm39) |
Y73C |
probably damaging |
Het |
Galnt12 |
C |
A |
4: 47,122,566 (GRCm39) |
R574S |
possibly damaging |
Het |
Lmo7 |
A |
T |
14: 102,149,515 (GRCm39) |
T973S |
possibly damaging |
Het |
Loxl1 |
C |
A |
9: 58,219,193 (GRCm39) |
G326V |
possibly damaging |
Het |
Lrrc24 |
A |
G |
15: 76,602,504 (GRCm39) |
V127A |
probably benign |
Het |
Lyrm1 |
T |
C |
7: 119,515,354 (GRCm39) |
|
probably benign |
Het |
Med28 |
G |
A |
5: 45,679,811 (GRCm39) |
V65I |
probably damaging |
Het |
Mgat4c |
T |
C |
10: 102,224,322 (GRCm39) |
Y179H |
probably damaging |
Het |
Micall1 |
A |
C |
15: 78,998,881 (GRCm39) |
N58T |
probably damaging |
Het |
Mtcl3 |
T |
A |
10: 29,074,945 (GRCm39) |
F911Y |
probably damaging |
Het |
Ncoa4 |
T |
A |
14: 31,895,377 (GRCm39) |
M72K |
possibly damaging |
Het |
Nutm1 |
T |
C |
2: 112,079,278 (GRCm39) |
Q879R |
probably benign |
Het |
Or4d6 |
C |
T |
19: 12,086,512 (GRCm39) |
V133I |
probably benign |
Het |
Or8b12i |
T |
A |
9: 20,082,463 (GRCm39) |
I135F |
probably damaging |
Het |
Or8g52 |
T |
A |
9: 39,631,331 (GRCm39) |
D269E |
probably benign |
Het |
Phf11b |
T |
C |
14: 59,562,373 (GRCm39) |
I177M |
probably damaging |
Het |
Pin1rt1 |
T |
G |
2: 104,545,052 (GRCm39) |
I27L |
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,444,858 (GRCm39) |
V750A |
possibly damaging |
Het |
Pou5f1 |
A |
T |
17: 35,820,936 (GRCm39) |
N126I |
possibly damaging |
Het |
Ptprn |
A |
T |
1: 75,224,517 (GRCm39) |
H946Q |
possibly damaging |
Het |
Rnf43 |
G |
T |
11: 87,623,130 (GRCm39) |
G744* |
probably null |
Het |
Rsbn1 |
C |
A |
3: 103,860,945 (GRCm39) |
|
probably benign |
Het |
Sars2 |
T |
A |
7: 28,446,206 (GRCm39) |
I145N |
possibly damaging |
Het |
Sh3tc2 |
A |
T |
18: 62,144,951 (GRCm39) |
E1135V |
probably damaging |
Het |
Shroom1 |
A |
G |
11: 53,354,206 (GRCm39) |
D42G |
probably benign |
Het |
Sidt2 |
A |
G |
9: 45,853,981 (GRCm39) |
|
probably null |
Het |
Slc39a8 |
T |
C |
3: 135,592,558 (GRCm39) |
|
probably benign |
Het |
Slc9c1 |
T |
C |
16: 45,420,121 (GRCm39) |
S1059P |
probably benign |
Het |
Socs6 |
A |
T |
18: 88,887,970 (GRCm39) |
M315K |
probably benign |
Het |
Speer2 |
T |
C |
16: 69,654,865 (GRCm39) |
E200G |
probably damaging |
Het |
Sult2a5 |
T |
A |
7: 13,358,107 (GRCm39) |
|
probably null |
Het |
Tmbim1 |
A |
T |
1: 74,330,858 (GRCm39) |
I168N |
possibly damaging |
Het |
Trim38 |
T |
C |
13: 23,966,946 (GRCm39) |
V131A |
probably damaging |
Het |
Ube2o |
A |
G |
11: 116,432,468 (GRCm39) |
S833P |
probably damaging |
Het |
Uggt2 |
T |
C |
14: 119,312,758 (GRCm39) |
I350M |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,548,648 (GRCm39) |
D640G |
probably damaging |
Het |
Vmn2r13 |
A |
G |
5: 109,304,148 (GRCm39) |
F761S |
probably damaging |
Het |
Vmn2r54 |
C |
T |
7: 12,366,355 (GRCm39) |
C193Y |
probably damaging |
Het |
|
Other mutations in Klc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00420:Klc3
|
APN |
7 |
19,130,220 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02215:Klc3
|
APN |
7 |
19,129,750 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02530:Klc3
|
APN |
7 |
19,130,969 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02802:Klc3
|
UTSW |
7 |
19,129,049 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0164:Klc3
|
UTSW |
7 |
19,128,851 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0164:Klc3
|
UTSW |
7 |
19,128,851 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1864:Klc3
|
UTSW |
7 |
19,131,966 (GRCm39) |
missense |
probably damaging |
0.98 |
R4702:Klc3
|
UTSW |
7 |
19,129,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R5301:Klc3
|
UTSW |
7 |
19,130,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R5436:Klc3
|
UTSW |
7 |
19,131,884 (GRCm39) |
splice site |
probably null |
|
R5497:Klc3
|
UTSW |
7 |
19,128,595 (GRCm39) |
missense |
probably benign |
|
R5523:Klc3
|
UTSW |
7 |
19,130,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R5672:Klc3
|
UTSW |
7 |
19,130,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R5822:Klc3
|
UTSW |
7 |
19,129,724 (GRCm39) |
critical splice donor site |
probably null |
|
R6576:Klc3
|
UTSW |
7 |
19,131,905 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7345:Klc3
|
UTSW |
7 |
19,128,814 (GRCm39) |
missense |
probably benign |
0.00 |
R8708:Klc3
|
UTSW |
7 |
19,129,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R9762:Klc3
|
UTSW |
7 |
19,132,023 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |