Incidental Mutation 'R5577:Klc4'
ID |
437276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klc4
|
Ensembl Gene |
ENSMUSG00000003546 |
Gene Name |
kinesin light chain 4 |
Synonyms |
1200014P03Rik, Knsl8 |
MMRRC Submission |
043132-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.525)
|
Stock # |
R5577 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
46941550-46956948 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 46946355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 490
(A490D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003642
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003642]
|
AlphaFold |
Q9DBS5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003642
AA Change: A490D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000003642 Gene: ENSMUSG00000003546 AA Change: A490D
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 |
noncoding transcript
Transcript: ENSMUST00000181301
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
C |
7: 127,835,826 (GRCm39) |
Y256D |
probably damaging |
Het |
Acr |
C |
A |
15: 89,458,441 (GRCm39) |
T374K |
probably benign |
Het |
Akt2 |
G |
A |
7: 27,335,731 (GRCm39) |
G335R |
probably damaging |
Het |
Ccn3 |
T |
A |
15: 54,615,897 (GRCm39) |
I354N |
possibly damaging |
Het |
Cd177 |
A |
T |
7: 24,444,562 (GRCm39) |
F673Y |
probably damaging |
Het |
Clmn |
G |
T |
12: 104,743,329 (GRCm39) |
S879R |
probably damaging |
Het |
Csrp3 |
T |
C |
7: 48,489,225 (GRCm39) |
H19R |
possibly damaging |
Het |
Dmkn |
T |
C |
7: 30,463,971 (GRCm39) |
S137P |
probably damaging |
Het |
Eno1 |
C |
A |
4: 150,331,067 (GRCm39) |
Y236* |
probably null |
Het |
Enpp7 |
T |
A |
11: 118,882,953 (GRCm39) |
N342K |
probably benign |
Het |
Fancm |
T |
A |
12: 65,177,185 (GRCm39) |
|
probably benign |
Het |
Fshr |
A |
T |
17: 89,293,351 (GRCm39) |
D442E |
probably benign |
Het |
Gm3898 |
T |
A |
9: 43,741,362 (GRCm39) |
|
noncoding transcript |
Het |
Hdac7 |
A |
T |
15: 97,709,336 (GRCm39) |
S43T |
probably benign |
Het |
Herc1 |
T |
C |
9: 66,389,263 (GRCm39) |
C3927R |
probably damaging |
Het |
Lcn9 |
T |
A |
2: 25,713,663 (GRCm39) |
I63N |
probably damaging |
Het |
Lgalsl |
G |
A |
11: 20,779,316 (GRCm39) |
Q110* |
probably null |
Het |
Lrp1b |
A |
T |
2: 40,765,135 (GRCm39) |
M2783K |
possibly damaging |
Het |
Lrrk2 |
A |
T |
15: 91,649,948 (GRCm39) |
Y1695F |
probably damaging |
Het |
Myo1e |
G |
A |
9: 70,277,753 (GRCm39) |
E817K |
probably benign |
Het |
Nav3 |
A |
T |
10: 109,605,264 (GRCm39) |
D936E |
probably damaging |
Het |
Necab3 |
T |
C |
2: 154,387,076 (GRCm39) |
|
probably null |
Het |
Nlrp1a |
T |
A |
11: 70,990,400 (GRCm39) |
I951F |
probably damaging |
Het |
Or5v1 |
T |
A |
17: 37,810,493 (GRCm39) |
I317K |
probably benign |
Het |
Or8b52 |
A |
G |
9: 38,576,297 (GRCm39) |
I281T |
possibly damaging |
Het |
Ppp2r5d |
T |
C |
17: 46,998,901 (GRCm39) |
S54G |
probably benign |
Het |
Prdx6 |
A |
G |
1: 161,071,255 (GRCm39) |
S146P |
probably damaging |
Het |
Sec24a |
A |
T |
11: 51,625,448 (GRCm39) |
H258Q |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,550,133 (GRCm39) |
T194A |
possibly damaging |
Het |
Sqstm1 |
T |
C |
11: 50,098,266 (GRCm39) |
I167V |
probably benign |
Het |
Tas1r3 |
T |
C |
4: 155,946,522 (GRCm39) |
E361G |
probably benign |
Het |
Tlr1 |
T |
A |
5: 65,083,428 (GRCm39) |
Q383L |
possibly damaging |
Het |
Trappc8 |
G |
C |
18: 20,969,836 (GRCm39) |
Y1051* |
probably null |
Het |
Vmn2r2 |
T |
A |
3: 64,024,416 (GRCm39) |
M722L |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,247,811 (GRCm39) |
H784R |
probably damaging |
Het |
Zfp534 |
T |
G |
4: 147,759,173 (GRCm39) |
K499Q |
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 |
|
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 |
R6890:Klc4
|
UTSW |
17 |
46,942,769 (GRCm39) |
missense |
probably benign |
0.01 |
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'- TGGCGGTACACACCTTTC -3'
(R):5'- AGCACTTACACGTCTGCAGG -3'
Sequencing Primer
(F):5'- TTTCCATAGAGTCTACAGAGCCAGG -3'
(R):5'- TTACACGTCTGCAGGGCCTG -3'
|
Posted On |
2016-10-26 |