Incidental Mutation 'R5822:Klc3'
| ID |
449974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klc3
|
| Ensembl Gene |
ENSMUSG00000040714 |
| Gene Name |
kinesin light chain 3 |
| Synonyms |
|
| MMRRC Submission |
044052-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R5822 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19128362-19138029 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 19129724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047170]
[ENSMUST00000062831]
[ENSMUST00000108457]
[ENSMUST00000108457]
[ENSMUST00000108458]
[ENSMUST00000108459]
[ENSMUST00000108460]
[ENSMUST00000108461]
|
| AlphaFold |
Q91W40 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047170
|
| SMART Domains |
Protein: ENSMUSP00000038091
Gene: ENSMUSG00000040714
| 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 null
Transcript: ENSMUST00000108457
|
| SMART Domains |
Protein: ENSMUSP00000104097
Gene: ENSMUSG00000040714
| 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 null
Transcript: ENSMUST00000108457
|
| SMART Domains |
Protein: ENSMUSP00000104097
Gene: ENSMUSG00000040714
| 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 null
Transcript: ENSMUST00000108458
|
| SMART Domains |
Protein: ENSMUSP00000104098
Gene: ENSMUSG00000040714
| 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 null
Transcript: ENSMUST00000108459
|
| SMART Domains |
Protein: ENSMUSP00000104099
Gene: ENSMUSG00000040714
| 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: ENSMUST00000125246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135693
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180691
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145039
|
| 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 |
|
| Meta Mutation Damage Score |
0.9489 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (54/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8a |
C |
T |
11: 109,921,705 (GRCm39) |
E1450K |
probably damaging |
Het |
| B4galnt2 |
T |
C |
11: 95,756,985 (GRCm39) |
Y482C |
probably damaging |
Het |
| Bud23 |
A |
G |
5: 135,092,775 (GRCm39) |
F9L |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 136,039,816 (GRCm39) |
E1214V |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,861,823 (GRCm39) |
M1T |
probably null |
Het |
| Chkb |
T |
C |
15: 89,313,715 (GRCm39) |
E30G |
probably benign |
Het |
| Crp |
A |
C |
1: 172,525,635 (GRCm39) |
|
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,708,670 (GRCm39) |
R375G |
probably null |
Het |
| Ddx11 |
C |
T |
17: 66,436,976 (GRCm39) |
S90L |
probably benign |
Het |
| Flnc |
A |
C |
6: 29,459,429 (GRCm39) |
I2510L |
probably damaging |
Het |
| Ftdc1 |
C |
A |
16: 58,436,075 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
T |
A |
15: 6,692,707 (GRCm39) |
|
probably benign |
Het |
| Gbp3 |
C |
T |
3: 142,272,239 (GRCm39) |
P247L |
probably benign |
Het |
| Ggn |
C |
T |
7: 28,871,981 (GRCm39) |
P454S |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,352,894 (GRCm39) |
S2127T |
probably benign |
Het |
| Ipo11 |
A |
G |
13: 106,984,926 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
G |
A |
2: 62,546,582 (GRCm39) |
R1000W |
probably benign |
Het |
| Kdm5b |
A |
T |
1: 134,516,511 (GRCm39) |
|
probably benign |
Het |
| Lst1 |
A |
T |
17: 35,407,359 (GRCm39) |
M3K |
unknown |
Het |
| Madd |
C |
T |
2: 90,982,878 (GRCm39) |
R1355Q |
probably damaging |
Het |
| Map3k10 |
A |
G |
7: 27,356,159 (GRCm39) |
L920P |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,109 (GRCm39) |
V423A |
probably damaging |
Het |
| Mogat2 |
T |
C |
7: 98,869,112 (GRCm39) |
D302G |
possibly damaging |
Het |
| Nkapl |
A |
C |
13: 21,652,593 (GRCm39) |
S7A |
unknown |
Het |
| Npas2 |
A |
G |
1: 39,386,647 (GRCm39) |
S639G |
probably benign |
Het |
| Nr1h5 |
T |
G |
3: 102,856,644 (GRCm39) |
H260P |
probably damaging |
Het |
| Or2g25 |
T |
C |
17: 37,971,122 (GRCm39) |
Y34C |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,392,464 (GRCm39) |
L306Q |
possibly damaging |
Het |
| Or4c35 |
T |
C |
2: 89,808,787 (GRCm39) |
S222P |
probably damaging |
Het |
| Or7a36 |
C |
T |
10: 78,820,023 (GRCm39) |
T133I |
possibly damaging |
Het |
| Or8a1b |
T |
C |
9: 37,623,087 (GRCm39) |
M163V |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,156,249 (GRCm39) |
L1142P |
probably damaging |
Het |
| Pdik1l |
C |
T |
4: 134,014,474 (GRCm39) |
E11K |
possibly damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,172,727 (GRCm39) |
V555A |
probably damaging |
Het |
| Ppp6c |
G |
A |
2: 39,090,064 (GRCm39) |
Q81* |
probably null |
Het |
| Pramel18 |
A |
G |
4: 101,767,440 (GRCm39) |
M230V |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,001,444 (GRCm39) |
Y1178F |
probably benign |
Het |
| Relch |
G |
A |
1: 105,646,581 (GRCm39) |
V660M |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,339,886 (GRCm39) |
L860Q |
probably damaging |
Het |
| Sdr39u1 |
A |
G |
14: 56,135,196 (GRCm39) |
V249A |
probably benign |
Het |
| Serhl |
T |
C |
15: 83,000,528 (GRCm39) |
V305A |
probably benign |
Het |
| Slc5a11 |
T |
C |
7: 122,851,654 (GRCm39) |
I201T |
probably damaging |
Het |
| Stk32a |
A |
T |
18: 43,446,552 (GRCm39) |
E334V |
probably benign |
Het |
| Tmem217 |
A |
G |
17: 29,745,529 (GRCm39) |
L67P |
probably damaging |
Het |
| Tnnt1 |
A |
T |
7: 4,519,345 (GRCm39) |
L12* |
probably null |
Het |
| Trim80 |
C |
T |
11: 115,338,747 (GRCm39) |
R526C |
probably damaging |
Het |
| Unc5b |
A |
T |
10: 60,608,306 (GRCm39) |
F635I |
possibly damaging |
Het |
| Utp20 |
T |
G |
10: 88,653,147 (GRCm39) |
N311T |
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,982,457 (GRCm39) |
T74A |
probably benign |
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 |
|
IGL03062:Klc3
|
APN |
7 |
19,128,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCAGTGGGTGAAATGTTCG -3'
(R):5'- TGACAGTGGCATCTCATGGAC -3'
Sequencing Primer
(F):5'- TGAAATGTTCGGGGTCACC -3'
(R):5'- GGCATCTCATGGACCACCTTATG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation