Incidental Mutation 'IGL03395:Klc4'
| ID |
421232 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klc4
|
| Ensembl Gene |
ENSMUSG00000003546 |
| Gene Name |
kinesin light chain 4 |
| Synonyms |
1200014P03Rik, Knsl8 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.612)
|
| Stock # |
IGL03395
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
46941550-46956948 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 46943789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 506
(V506M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003642]
[ENSMUST00000044442]
|
| AlphaFold |
Q9DBS5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003642
AA Change: V506M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003642
Gene: ENSMUSG00000003546
AA Change: V506M
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
A |
G |
11: 102,663,746 (GRCm39) |
D308G |
probably damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,761,701 (GRCm39) |
I155F |
probably damaging |
Het |
| Ado |
T |
C |
10: 67,384,368 (GRCm39) |
Y79C |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,107,884 (GRCm39) |
|
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,528,734 (GRCm39) |
D165E |
probably damaging |
Het |
| Ccdc124 |
A |
C |
8: 71,321,251 (GRCm39) |
M163R |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,479,304 (GRCm39) |
|
probably benign |
Het |
| Cenpq |
A |
G |
17: 41,234,449 (GRCm39) |
L247P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,294,978 (GRCm39) |
V479A |
probably benign |
Het |
| Egfr |
T |
C |
11: 16,860,261 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
A |
T |
5: 9,472,359 (GRCm39) |
Q352L |
probably damaging |
Het |
| Emc9 |
C |
T |
14: 55,822,197 (GRCm39) |
A72T |
probably benign |
Het |
| Fbxo5 |
G |
A |
10: 5,751,935 (GRCm39) |
S226F |
probably benign |
Het |
| Gm42688 |
A |
C |
6: 83,085,352 (GRCm39) |
E737D |
possibly damaging |
Het |
| Got1l1 |
G |
T |
8: 27,690,885 (GRCm39) |
H54Q |
probably benign |
Het |
| Grid2 |
G |
A |
6: 63,886,053 (GRCm39) |
V150I |
possibly damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,754,495 (GRCm39) |
N90S |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,681,617 (GRCm39) |
|
probably null |
Het |
| Mbd6 |
G |
A |
10: 127,119,286 (GRCm39) |
R950C |
probably damaging |
Het |
| Nol11 |
A |
G |
11: 107,066,548 (GRCm39) |
V414A |
probably benign |
Het |
| Or7e178 |
A |
T |
9: 20,225,847 (GRCm39) |
M123K |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,272,325 (GRCm39) |
E177G |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,614,262 (GRCm39) |
D396E |
probably benign |
Het |
| Pcyt2 |
A |
T |
11: 120,503,876 (GRCm39) |
|
probably null |
Het |
| Pds5a |
T |
C |
5: 65,809,792 (GRCm39) |
D390G |
possibly damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,224,999 (GRCm39) |
T155A |
probably benign |
Het |
| Rab31 |
T |
A |
17: 66,003,362 (GRCm39) |
H95L |
probably benign |
Het |
| Rfx5 |
C |
T |
3: 94,865,113 (GRCm39) |
R259* |
probably null |
Het |
| Slc6a17 |
T |
C |
3: 107,384,622 (GRCm39) |
D285G |
probably damaging |
Het |
| Spats2l |
A |
T |
1: 57,977,175 (GRCm39) |
I318F |
probably damaging |
Het |
| Spef1l |
G |
T |
7: 139,556,589 (GRCm39) |
|
probably benign |
Het |
| Tcf12 |
A |
G |
9: 71,783,304 (GRCm39) |
S361P |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation