Incidental Mutation 'IGL01929:Klc4'
ID180392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klc4
Ensembl Gene ENSMUSG00000003546
Gene Namekinesin light chain 4
SynonymsKnsl8, 1200014P03Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.575) question?
Stock #IGL01929
Quality Score
Status
Chromosome17
Chromosomal Location46630631-46645144 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 46644247 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000003642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002844] [ENSMUST00000003642] [ENSMUST00000113429] [ENSMUST00000113430]
Predicted Effect probably benign
Transcript: ENSMUST00000002844
SMART Domains Protein: ENSMUSP00000002844
Gene: ENSMUSG00000002767

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 G A 3: 89,344,138 P467S probably benign Het
Areg T C 5: 91,144,453 I204T probably benign Het
Dnah3 A T 7: 119,951,651 Y3137* probably null Het
Dnajc10 T G 2: 80,328,076 C270W probably damaging Het
Epc1 A G 18: 6,449,217 F427L possibly damaging Het
Fcgbp A T 7: 28,103,963 D1664V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm4951 A G 18: 60,246,482 E363G probably benign Het
Gm6686 G A 17: 15,566,315 probably benign Het
Grik4 C A 9: 42,566,298 probably null Het
H2-Oa G A 17: 34,094,082 probably null Het
Il20ra T G 10: 19,759,271 L420R probably benign Het
Kcnk2 A G 1: 189,340,030 S34P probably damaging Het
Large1 T C 8: 72,859,275 Y401C probably damaging Het
Lrrc59 T C 11: 94,643,516 V300A possibly damaging Het
Myom2 T A 8: 15,117,698 D1094E probably damaging Het
Nfrkb T A 9: 31,419,873 I1230N possibly damaging Het
Olfr543 A G 7: 102,477,166 S235P possibly damaging Het
Prr14l T C 5: 32,828,243 T146A probably benign Het
Psmd5 A G 2: 34,863,466 V221A probably damaging Het
Ptchd4 A T 17: 42,503,322 T705S probably benign Het
Ptprm G A 17: 66,690,549 A1184V probably damaging Het
Rb1cc1 G T 1: 6,240,159 K260N possibly damaging Het
Rbm28 T A 6: 29,128,585 D46V possibly damaging Het
Sdk1 T C 5: 141,953,030 Y403H probably damaging Het
Slco3a1 A G 7: 74,318,605 probably benign Het
Slfn8 T A 11: 83,003,405 K803* probably null Het
Vmn2r82 A T 10: 79,378,711 D176V probably damaging Het
Vmn2r-ps130 A T 17: 23,076,877 I674F possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr70 A T 15: 7,920,634 probably null Het
Xdh A T 17: 73,934,855 C150S probably damaging Het
Xpo5 G T 17: 46,202,929 M3I probably benign Het
Other mutations in Klc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Klc4 APN 17 46635435 missense probably damaging 1.00
IGL02550:Klc4 APN 17 46636910 splice site probably null
IGL03395:Klc4 APN 17 46632863 missense probably damaging 1.00
R0033:Klc4 UTSW 17 46635433 missense probably damaging 1.00
R1653:Klc4 UTSW 17 46631859 missense possibly damaging 0.91
R1681:Klc4 UTSW 17 46636770 missense probably damaging 0.99
R1944:Klc4 UTSW 17 46636627 missense probably damaging 1.00
R4981:Klc4 UTSW 17 46644361 missense probably benign 0.03
R5417:Klc4 UTSW 17 46632031 critical splice donor site probably null
R5577:Klc4 UTSW 17 46635429 missense probably damaging 1.00
R5742:Klc4 UTSW 17 46642271 missense probably damaging 1.00
R6224:Klc4 UTSW 17 46640062 missense possibly damaging 0.71
R6245:Klc4 UTSW 17 46636679 missense probably damaging 1.00
R6516:Klc4 UTSW 17 46642255 missense probably damaging 1.00
R6890:Klc4 UTSW 17 46631843 missense probably benign 0.01
R6925:Klc4 UTSW 17 46636229 missense possibly damaging 0.69
R7466:Klc4 UTSW 17 46639910 missense probably benign 0.22
R7585:Klc4 UTSW 17 46631884 missense probably benign 0.01
R8273:Klc4 UTSW 17 46642154 missense possibly damaging 0.92
R8510:Klc4 UTSW 17 46644304 missense possibly damaging 0.93
X0025:Klc4 UTSW 17 46640675 missense probably benign 0.12
Z1177:Klc4 UTSW 17 46635409 critical splice donor site probably null
Posted On2014-05-07