Incidental Mutation 'IGL01929:Klc4'
ID |
180392 |
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: 0.525)
|
Stock # |
IGL01929
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
46941550-46956948 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 46955173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003642
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002844]
[ENSMUST00000003642]
[ENSMUST00000113429]
[ENSMUST00000113430]
|
AlphaFold |
Q9DBS5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002844
|
SMART Domains |
Protein: ENSMUSP00000002844 Gene: ENSMUSG00000002767
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Ribosomal_L2
|
84 |
166 |
3.44e-29 |
SMART |
Ribosomal_L2_C
|
177 |
298 |
1.32e-30 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000003642
|
SMART Domains |
Protein: ENSMUSP00000003642 Gene: ENSMUSG00000003546
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: ENSMUST00000113429
|
SMART Domains |
Protein: ENSMUSP00000109056 Gene: ENSMUSG00000002767
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L2
|
84 |
166 |
1.1e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113430
|
SMART Domains |
Protein: ENSMUSP00000109057 Gene: ENSMUSG00000002767
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L2
|
82 |
164 |
1.6e-31 |
PFAM |
Pfam:Ribosomal_L2_C
|
175 |
279 |
5.6e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146183
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156464
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam15 |
G |
A |
3: 89,251,445 (GRCm39) |
P467S |
probably benign |
Het |
Areg |
T |
C |
5: 91,292,312 (GRCm39) |
I204T |
probably benign |
Het |
Dnah3 |
A |
T |
7: 119,550,874 (GRCm39) |
Y3137* |
probably null |
Het |
Dnajc10 |
T |
G |
2: 80,158,420 (GRCm39) |
C270W |
probably damaging |
Het |
Epc1 |
A |
G |
18: 6,449,217 (GRCm39) |
F427L |
possibly damaging |
Het |
Fcgbp |
A |
T |
7: 27,803,388 (GRCm39) |
D1664V |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm6686 |
G |
A |
17: 15,786,577 (GRCm39) |
|
probably benign |
Het |
Grik4 |
C |
A |
9: 42,477,594 (GRCm39) |
|
probably null |
Het |
H2-Oa |
G |
A |
17: 34,313,056 (GRCm39) |
|
probably null |
Het |
Iigp1c |
A |
G |
18: 60,379,554 (GRCm39) |
E363G |
probably benign |
Het |
Il20ra |
T |
G |
10: 19,635,019 (GRCm39) |
L420R |
probably benign |
Het |
Kcnk2 |
A |
G |
1: 189,072,227 (GRCm39) |
S34P |
probably damaging |
Het |
Large1 |
T |
C |
8: 73,585,903 (GRCm39) |
Y401C |
probably damaging |
Het |
Lrrc59 |
T |
C |
11: 94,534,342 (GRCm39) |
V300A |
possibly damaging |
Het |
Myom2 |
T |
A |
8: 15,167,698 (GRCm39) |
D1094E |
probably damaging |
Het |
Nfrkb |
T |
A |
9: 31,331,169 (GRCm39) |
I1230N |
possibly damaging |
Het |
Or55b3 |
A |
G |
7: 102,126,373 (GRCm39) |
S235P |
possibly damaging |
Het |
Prr14l |
T |
C |
5: 32,985,587 (GRCm39) |
T146A |
probably benign |
Het |
Psmd5 |
A |
G |
2: 34,753,478 (GRCm39) |
V221A |
probably damaging |
Het |
Ptchd4 |
A |
T |
17: 42,814,213 (GRCm39) |
T705S |
probably benign |
Het |
Ptprm |
G |
A |
17: 66,997,544 (GRCm39) |
A1184V |
probably damaging |
Het |
Rb1cc1 |
G |
T |
1: 6,310,383 (GRCm39) |
K260N |
possibly damaging |
Het |
Rbm28 |
T |
A |
6: 29,128,584 (GRCm39) |
D46V |
possibly damaging |
Het |
Sdk1 |
T |
C |
5: 141,938,785 (GRCm39) |
Y403H |
probably damaging |
Het |
Slco3a1 |
A |
G |
7: 73,968,353 (GRCm39) |
|
probably benign |
Het |
Slfn8 |
T |
A |
11: 82,894,231 (GRCm39) |
K803* |
probably null |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r130 |
A |
T |
17: 23,295,851 (GRCm39) |
I674F |
possibly damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,214,545 (GRCm39) |
D176V |
probably damaging |
Het |
Wdr70 |
A |
T |
15: 7,950,115 (GRCm39) |
|
probably null |
Het |
Xdh |
A |
T |
17: 74,241,850 (GRCm39) |
C150S |
probably damaging |
Het |
Xpo5 |
G |
T |
17: 46,513,855 (GRCm39) |
M3I |
probably benign |
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 |
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 |
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 |
2014-05-07 |