Incidental Mutation 'R6623:Klc1'
| ID |
524619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klc1
|
| Ensembl Gene |
ENSMUSG00000021288 |
| Gene Name |
kinesin light chain 1 |
| Synonyms |
Kns2 |
| MMRRC Submission |
044745-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.498)
|
| Stock # |
R6623 (G1)
|
| Quality Score |
89.0077 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111725283-111774278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 111772475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 597
(N597K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021715]
[ENSMUST00000084941]
[ENSMUST00000122300]
[ENSMUST00000127281]
[ENSMUST00000134578]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021715
|
| SMART Domains |
Protein: ENSMUSP00000021715
Gene: ENSMUSG00000021287
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad51
|
64 |
343 |
1.2e-25 |
PFAM |
|
Pfam:AAA_25
|
70 |
261 |
2e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084941
AA Change: N605K
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000082004
Gene: ENSMUSG00000021288
AA Change: N605K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
86 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
206 |
N/A |
INTRINSIC |
|
Pfam:TPR_10
|
212 |
253 |
3.1e-9 |
PFAM |
|
TPR
|
255 |
288 |
3.81e-1 |
SMART |
|
TPR
|
297 |
330 |
1.16e-5 |
SMART |
|
TPR
|
339 |
372 |
4.77e-2 |
SMART |
|
TPR
|
381 |
414 |
2.78e-3 |
SMART |
|
TPR
|
464 |
497 |
4.93e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122300
AA Change: N597K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113997
Gene: ENSMUSG00000021288
AA Change: N597K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rab5-bind
|
80 |
254 |
1e-68 |
PFAM |
|
Pfam:TPR_10
|
212 |
253 |
8.4e-9 |
PFAM |
|
TPR
|
255 |
288 |
3.81e-1 |
SMART |
|
TPR
|
297 |
330 |
1.16e-5 |
SMART |
|
TPR
|
339 |
372 |
4.77e-2 |
SMART |
|
TPR
|
381 |
414 |
2.78e-3 |
SMART |
|
TPR
|
464 |
497 |
2.99e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127281
|
| SMART Domains |
Protein: ENSMUSP00000118040
Gene: ENSMUSG00000021287
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad51
|
64 |
193 |
4e-17 |
PFAM |
|
Pfam:AAA_25
|
70 |
192 |
2.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132177
|
| Predicted Effect |
silent
Transcript: ENSMUST00000134578
|
| SMART Domains |
Protein: ENSMUSP00000120491
Gene: ENSMUSG00000021288
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_1
|
1 |
25 |
1.9e-4 |
PFAM |
|
Pfam:TPR_7
|
1 |
36 |
1.9e-4 |
PFAM |
|
Pfam:TPR_10
|
75 |
112 |
7.8e-9 |
PFAM |
|
Pfam:TPR_1
|
77 |
98 |
1.4e-4 |
PFAM |
|
Pfam:TPR_7
|
78 |
129 |
1.7e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145109
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141435
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147203
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
| Validation Efficiency |
100% (29/29) |
| MGI Phenotype |
FUNCTION: Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named "kinesin 2", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are significantly smaller than normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,634,388 (GRCm39) |
K460E |
probably damaging |
Het |
| Acaca |
A |
C |
11: 84,262,325 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
A |
G |
16: 85,592,525 (GRCm39) |
S628P |
probably benign |
Het |
| Ankrd13a |
A |
G |
5: 114,924,818 (GRCm39) |
N101S |
probably benign |
Het |
| Asic5 |
G |
A |
3: 81,915,892 (GRCm39) |
V281M |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,099,972 (GRCm38) |
S553P |
probably damaging |
Het |
| Cstdc2 |
A |
T |
2: 148,692,682 (GRCm39) |
I40K |
probably benign |
Het |
| Fndc3c1 |
G |
C |
X: 105,478,679 (GRCm39) |
L724V |
possibly damaging |
Homo |
| Hmcn1 |
A |
G |
1: 150,634,057 (GRCm39) |
F843S |
probably benign |
Het |
| Igkv10-96 |
T |
G |
6: 68,609,158 (GRCm39) |
S46R |
probably damaging |
Het |
| Itfg2 |
G |
T |
6: 128,388,620 (GRCm39) |
A289D |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 146,961,297 (GRCm39) |
V545A |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,745,631 (GRCm39) |
I344V |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Myrf |
C |
A |
19: 10,200,723 (GRCm39) |
A317S |
probably benign |
Het |
| Ncoa2 |
A |
T |
1: 13,251,521 (GRCm39) |
C251S |
probably damaging |
Het |
| Or52i2 |
T |
G |
7: 102,319,241 (GRCm39) |
M38R |
possibly damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,570,711 (GRCm39) |
T619I |
possibly damaging |
Het |
| Plxna1 |
A |
T |
6: 89,299,753 (GRCm39) |
M1672K |
probably damaging |
Het |
| Prl |
G |
T |
13: 27,245,492 (GRCm39) |
V72L |
probably benign |
Het |
| Prokr2 |
G |
T |
2: 132,215,494 (GRCm39) |
N161K |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,724,951 (GRCm39) |
D2454G |
probably damaging |
Het |
| Slc2a12 |
T |
A |
10: 22,540,799 (GRCm39) |
M218K |
probably damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,776,944 (GRCm39) |
A992V |
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,682,561 (GRCm39) |
I50T |
probably damaging |
Het |
| Supt20 |
A |
G |
3: 54,625,715 (GRCm39) |
I570M |
possibly damaging |
Het |
| Sv2b |
T |
A |
7: 74,856,132 (GRCm39) |
I53F |
probably damaging |
Het |
| Vmn1r113 |
T |
A |
7: 20,521,991 (GRCm39) |
M261K |
probably benign |
Het |
| Vmn1r217 |
T |
A |
13: 23,298,846 (GRCm39) |
I19F |
possibly damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,474,500 (GRCm39) |
T843A |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,056,309 (GRCm39) |
I610L |
possibly damaging |
Het |
|
| Other mutations in Klc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00594:Klc1
|
APN |
12 |
111,743,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00940:Klc1
|
APN |
12 |
111,753,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02206:Klc1
|
APN |
12 |
111,744,550 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02487:Klc1
|
APN |
12 |
111,738,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02490:Klc1
|
APN |
12 |
111,748,210 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02830:Klc1
|
APN |
12 |
111,743,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03121:Klc1
|
APN |
12 |
111,748,076 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03253:Klc1
|
APN |
12 |
111,748,078 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03376:Klc1
|
APN |
12 |
111,742,387 (GRCm39) |
missense |
probably damaging |
0.97 |
|
dwarf
|
UTSW |
12 |
111,762,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Klc1
|
UTSW |
12 |
111,741,006 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0031:Klc1
|
UTSW |
12 |
111,743,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0239:Klc1
|
UTSW |
12 |
111,751,758 (GRCm39) |
splice site |
probably benign |
|
|
R1647:Klc1
|
UTSW |
12 |
111,743,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Klc1
|
UTSW |
12 |
111,743,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Klc1
|
UTSW |
12 |
111,748,261 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2940:Klc1
|
UTSW |
12 |
111,772,451 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4829:Klc1
|
UTSW |
12 |
111,762,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4849:Klc1
|
UTSW |
12 |
111,748,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5309:Klc1
|
UTSW |
12 |
111,762,055 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5312:Klc1
|
UTSW |
12 |
111,762,055 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5637:Klc1
|
UTSW |
12 |
111,740,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5706:Klc1
|
UTSW |
12 |
111,762,061 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6920:Klc1
|
UTSW |
12 |
111,754,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7109:Klc1
|
UTSW |
12 |
111,743,299 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7538:Klc1
|
UTSW |
12 |
111,751,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8051:Klc1
|
UTSW |
12 |
111,748,384 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8719:Klc1
|
UTSW |
12 |
111,772,509 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8995:Klc1
|
UTSW |
12 |
111,743,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9420:Klc1
|
UTSW |
12 |
111,738,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
V7580:Klc1
|
UTSW |
12 |
111,741,006 (GRCm39) |
missense |
probably benign |
0.09 |
|
V7581:Klc1
|
UTSW |
12 |
111,741,006 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTTGAAGTTTCAGCCAG -3'
(R):5'- CAATGGGAGAAGTCAGTGCC -3'
Sequencing Primer
(F):5'- AGCCAGGGCCTTCATATTG -3'
(R):5'- GAAGTCAGTGCCAGCCTCAAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation