Incidental Mutation 'R8273:Klc4'
ID 637876
Institutional Source Beutler Lab
Gene Symbol Klc4
Ensembl Gene ENSMUSG00000003546
Gene Name kinesin light chain 4
Synonyms 1200014P03Rik, Knsl8
MMRRC Submission 067696-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R8273 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 46941550-46956948 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46953080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 150 (L150Q)
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

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 possibly damaging
Transcript: ENSMUST00000003642
AA Change: L150Q

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003642
Gene: ENSMUSG00000003546
AA Change: L150Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,772,211 (GRCm39) V467I probably benign Het
Ank1 G A 8: 23,575,668 (GRCm39) G167E probably damaging Het
Ano2 G A 6: 125,959,683 (GRCm39) V648M probably damaging Het
Ap3b2 A G 7: 81,112,990 (GRCm39) C954R unknown Het
Atp13a4 T G 16: 29,290,720 (GRCm39) Y243S Het
Bend3 T G 10: 43,386,899 (GRCm39) C431G probably damaging Het
Ccdc57 G A 11: 120,812,599 (GRCm39) R52C probably damaging Het
Ccl22 T C 8: 95,473,619 (GRCm39) W55R probably damaging Het
Ccnk A G 12: 108,152,758 (GRCm39) Y25C probably damaging Het
Cntnap5a C T 1: 116,499,271 (GRCm39) P1174S probably damaging Het
Copa T C 1: 171,946,546 (GRCm39) probably null Het
Copg2 C T 6: 30,793,061 (GRCm39) V425M probably benign Het
Dnah6 T A 6: 73,172,664 (GRCm39) T265S probably benign Het
Dnah6 T C 6: 73,053,582 (GRCm39) E2936G probably benign Het
Dync2i2 A T 2: 29,921,903 (GRCm39) V486D probably damaging Het
Erc2 A G 14: 27,499,096 (GRCm39) D324G probably benign Het
F11 T A 8: 45,701,644 (GRCm39) H363L possibly damaging Het
F7 T C 8: 13,083,981 (GRCm39) V222A probably benign Het
Fars2 A G 13: 36,594,093 (GRCm39) D366G probably damaging Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Flot2 A G 11: 77,950,021 (GRCm39) I417V probably benign Het
Fmnl1 T C 11: 103,077,525 (GRCm39) F295S probably damaging Het
Gpr89 G A 3: 96,812,505 (GRCm39) T12I probably benign Het
Gprc6a T C 10: 51,507,370 (GRCm39) D53G probably benign Het
Gtf2e1 T A 16: 37,343,213 (GRCm39) I184F probably damaging Het
Gtf2h1 G A 7: 46,454,474 (GRCm39) R152H probably benign Het
Haus3 A G 5: 34,311,435 (GRCm39) F532L probably benign Het
Inpp4a A G 1: 37,407,520 (GRCm39) probably benign Het
Lzts3 C T 2: 130,476,801 (GRCm39) R549Q possibly damaging Het
Mbd5 T A 2: 49,168,891 (GRCm39) L1354Q probably damaging Het
Mtus2 A G 5: 148,043,815 (GRCm39) D801G probably damaging Het
Muc6 T A 7: 141,226,795 (GRCm39) T1411S unknown Het
Nalcn C A 14: 123,554,436 (GRCm39) G954C probably damaging Het
Nlrp9b G A 7: 19,757,986 (GRCm39) E408K possibly damaging Het
Oaz3 A G 3: 94,342,434 (GRCm39) L119P probably damaging Het
Or2w6 A G 13: 21,843,377 (GRCm39) F39L probably damaging Het
Pcdhgb5 T C 18: 37,865,240 (GRCm39) V345A probably benign Het
Pdzph1 A T 17: 59,280,009 (GRCm39) Y758N probably benign Het
Pea15a T A 1: 172,026,812 (GRCm39) H65L probably damaging Het
Pigm T A 1: 172,205,524 (GRCm39) I420N probably benign Het
Pign A G 1: 105,516,803 (GRCm39) F580L probably benign Het
Pkhd1 T C 1: 20,607,644 (GRCm39) probably benign Het
Plxnc1 T C 10: 94,649,105 (GRCm39) N1225D probably benign Het
Rbbp6 G A 7: 122,589,547 (GRCm39) D412N probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rtl1 A G 12: 109,559,149 (GRCm39) Y897H possibly damaging Het
Scube2 A T 7: 109,408,383 (GRCm39) F688Y probably benign Het
Sgo2b C A 8: 64,377,735 (GRCm39) R1166L unknown Het
Slc12a2 G T 18: 58,047,338 (GRCm39) probably benign Het
Smpdl3b T A 4: 132,465,712 (GRCm39) H236L probably damaging Het
Spata9 C A 13: 76,125,666 (GRCm39) probably benign Het
St6galnac4 A G 2: 32,477,667 (GRCm39) probably benign Het
Stc2 T A 11: 31,319,777 (GRCm39) N29I possibly damaging Het
Sun5 A T 2: 153,707,243 (GRCm39) M145K possibly damaging Het
Tas2r106 T C 6: 131,655,018 (GRCm39) I278V probably damaging Het
Trrap A G 5: 144,727,975 (GRCm39) I565M probably damaging Het
Ttl A G 2: 128,910,853 (GRCm39) K79R probably benign Het
Ttn A T 2: 76,737,721 (GRCm39) Y4319N unknown Het
Usp28 T C 9: 48,938,182 (GRCm39) L584P probably damaging Het
Wdr27 A G 17: 15,049,838 (GRCm39) S777P probably benign Het
Wee1 A G 7: 109,723,691 (GRCm39) D202G probably benign Het
Wnt5a T C 14: 28,244,562 (GRCm39) Y270H probably damaging Het
Zfp318 G A 17: 46,723,301 (GRCm39) C1768Y probably damaging Het
Other mutations in Klc4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGGGATACATAAGCACCAGC -3'
(R):5'- GCTCATATGATGTTCCCACCTAGG -3'

Sequencing Primer
(F):5'- TAGGATTCTGGGTTCCAG -3'
(R):5'- ACCTAGGTGATGCTGGCG -3'
Posted On 2020-07-28