Incidental Mutation 'R6890:Klc4'
ID |
537176 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klc4
|
Ensembl Gene |
ENSMUSG00000003546 |
Gene Name |
kinesin light chain 4 |
Synonyms |
1200014P03Rik, Knsl8 |
MMRRC Submission |
044984-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.525)
|
Stock # |
R6890 (G1)
|
Quality Score |
224.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
46941550-46956948 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 46942769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 598
(N598K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003642
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003642]
[ENSMUST00000044442]
|
AlphaFold |
Q9DBS5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003642
AA Change: N598K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000003642 Gene: ENSMUSG00000003546 AA Change: N598K
Domain | Start | End | E-Value | Type |
coiled coil region
|
90 |
155 |
N/A |
INTRINSIC |
low complexity region
|
194 |
204 |
N/A |
INTRINSIC |
Pfam:TPR_10
|
210 |
251 |
9.4e-9 |
PFAM |
TPR
|
253 |
286 |
3.32e-1 |
SMART |
TPR
|
295 |
328 |
7.16e-6 |
SMART |
TPR
|
337 |
370 |
4.21e-3 |
SMART |
TPR
|
379 |
412 |
9.03e-3 |
SMART |
low complexity region
|
429 |
443 |
N/A |
INTRINSIC |
TPR
|
464 |
497 |
9.99e1 |
SMART |
low complexity region
|
609 |
619 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000044442
|
SMART Domains |
Protein: ENSMUSP00000043703 Gene: ENSMUSG00000023972
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
IGc2
|
36 |
100 |
1.48e-6 |
SMART |
IGc2
|
133 |
199 |
8.12e-13 |
SMART |
IGc2
|
229 |
300 |
5.01e-4 |
SMART |
IGc2
|
326 |
390 |
1.96e-6 |
SMART |
IG
|
410 |
491 |
6.02e-7 |
SMART |
IGc2
|
507 |
569 |
1.19e-10 |
SMART |
IGc2
|
596 |
663 |
2.6e-11 |
SMART |
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
TyrKc
|
788 |
1053 |
4.34e-115 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg3 |
T |
C |
16: 20,424,736 (GRCm39) |
T270A |
possibly damaging |
Het |
Ambp |
G |
C |
4: 63,068,596 (GRCm39) |
H140Q |
probably benign |
Het |
Arhgef10 |
T |
C |
8: 14,978,786 (GRCm39) |
C18R |
probably benign |
Het |
Arhgef10l |
A |
G |
4: 140,271,730 (GRCm39) |
F548S |
probably damaging |
Het |
Armh3 |
A |
G |
19: 45,948,796 (GRCm39) |
Y228H |
probably damaging |
Het |
Cdhr1 |
T |
C |
14: 36,807,602 (GRCm39) |
D346G |
probably damaging |
Het |
Col18a1 |
T |
A |
10: 76,949,318 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
T |
A |
6: 4,539,587 (GRCm39) |
L1285Q |
unknown |
Het |
Cspg5 |
T |
C |
9: 110,075,852 (GRCm39) |
L196P |
probably damaging |
Het |
Dusp10 |
T |
G |
1: 183,801,393 (GRCm39) |
Y387D |
probably damaging |
Het |
Epb41 |
A |
T |
4: 131,663,140 (GRCm39) |
D681E |
probably damaging |
Het |
Eps8 |
A |
G |
6: 137,489,255 (GRCm39) |
V381A |
probably damaging |
Het |
Fbxw16 |
A |
T |
9: 109,265,810 (GRCm39) |
S336R |
probably benign |
Het |
Gm49368 |
A |
G |
7: 127,680,901 (GRCm39) |
R277G |
probably benign |
Het |
Gsg1 |
C |
T |
6: 135,214,418 (GRCm39) |
V320I |
probably benign |
Het |
Iglc3 |
T |
A |
16: 18,884,258 (GRCm39) |
|
probably benign |
Het |
Malsu1 |
A |
G |
6: 49,052,185 (GRCm39) |
Y135C |
probably damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,846,283 (GRCm39) |
I477T |
probably damaging |
Het |
Mtss1 |
G |
T |
15: 58,823,508 (GRCm39) |
S286R |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
Niban3 |
T |
A |
8: 72,058,315 (GRCm39) |
V540D |
probably damaging |
Het |
Npepps |
A |
T |
11: 97,158,470 (GRCm39) |
C98* |
probably null |
Het |
Nphp3 |
A |
C |
9: 103,919,153 (GRCm39) |
Y1267S |
probably damaging |
Het |
Npr3 |
A |
G |
15: 11,883,478 (GRCm39) |
V317A |
possibly damaging |
Het |
Nsun6 |
A |
G |
2: 15,053,788 (GRCm39) |
I7T |
probably damaging |
Het |
Or13p4 |
A |
G |
4: 118,546,728 (GRCm39) |
V307A |
possibly damaging |
Het |
Or51ai2 |
A |
T |
7: 103,587,066 (GRCm39) |
T160S |
possibly damaging |
Het |
Or5b121 |
C |
T |
19: 13,507,445 (GRCm39) |
T180I |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 82,018,150 (GRCm39) |
H1330R |
probably benign |
Het |
Rad17 |
T |
C |
13: 100,773,592 (GRCm39) |
I201V |
probably benign |
Het |
Slc26a4 |
G |
A |
12: 31,599,950 (GRCm39) |
T126M |
possibly damaging |
Het |
Slitrk6 |
A |
T |
14: 110,988,528 (GRCm39) |
L393* |
probably null |
Het |
Snx2 |
A |
G |
18: 53,345,951 (GRCm39) |
H378R |
probably damaging |
Het |
Tex21 |
A |
G |
12: 76,286,229 (GRCm39) |
|
probably null |
Het |
Trio |
A |
T |
15: 27,919,374 (GRCm39) |
|
probably benign |
Het |
Vpreb1b |
T |
C |
16: 17,798,820 (GRCm39) |
I102T |
probably damaging |
Het |
Zfp617 |
T |
G |
8: 72,686,010 (GRCm39) |
H113Q |
probably benign |
Het |
Zgpat |
T |
A |
2: 181,020,304 (GRCm39) |
I237N |
probably damaging |
Het |
|
Other mutations in Klc4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00337:Klc4
|
APN |
17 |
46,946,361 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01929:Klc4
|
APN |
17 |
46,955,173 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02550:Klc4
|
APN |
17 |
46,947,836 (GRCm39) |
splice site |
probably null |
|
IGL03395:Klc4
|
APN |
17 |
46,943,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R0033:Klc4
|
UTSW |
17 |
46,946,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R1653:Klc4
|
UTSW |
17 |
46,942,785 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1681:Klc4
|
UTSW |
17 |
46,947,696 (GRCm39) |
missense |
probably damaging |
0.99 |
R1944:Klc4
|
UTSW |
17 |
46,947,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R4981:Klc4
|
UTSW |
17 |
46,955,287 (GRCm39) |
missense |
probably benign |
0.03 |
R5417:Klc4
|
UTSW |
17 |
46,942,957 (GRCm39) |
critical splice donor site |
probably null |
|
R5577:Klc4
|
UTSW |
17 |
46,946,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R5742:Klc4
|
UTSW |
17 |
46,953,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R6224:Klc4
|
UTSW |
17 |
46,950,988 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6245:Klc4
|
UTSW |
17 |
46,947,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R6516:Klc4
|
UTSW |
17 |
46,953,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R6925:Klc4
|
UTSW |
17 |
46,947,155 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7466:Klc4
|
UTSW |
17 |
46,950,836 (GRCm39) |
missense |
probably benign |
0.22 |
R7585:Klc4
|
UTSW |
17 |
46,942,810 (GRCm39) |
missense |
probably benign |
0.01 |
R8273:Klc4
|
UTSW |
17 |
46,953,080 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8510:Klc4
|
UTSW |
17 |
46,955,230 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8723:Klc4
|
UTSW |
17 |
46,951,626 (GRCm39) |
missense |
probably benign |
0.38 |
R9157:Klc4
|
UTSW |
17 |
46,950,361 (GRCm39) |
missense |
probably damaging |
0.99 |
R9309:Klc4
|
UTSW |
17 |
46,947,550 (GRCm39) |
missense |
probably damaging |
0.99 |
X0025:Klc4
|
UTSW |
17 |
46,951,601 (GRCm39) |
missense |
probably benign |
0.12 |
Z1177:Klc4
|
UTSW |
17 |
46,946,335 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCTGACTGAATCCTTTAGCCAG -3'
(R):5'- TCCAGGTACATGACAAGTGACAAG -3'
Sequencing Primer
(F):5'- ACCAGGCTGGCTTTAAATGC -3'
(R):5'- GGGGTAACTATGACAAAGCAGGTC -3'
|
Posted On |
2018-10-18 |