Incidental Mutation 'R0033:Klc4'
ID 64564
Institutional Source Beutler Lab
Gene Symbol Klc4
Ensembl Gene ENSMUSG00000003546
Gene Name kinesin light chain 4
Synonyms 1200014P03Rik, Knsl8
MMRRC Submission 038327-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R0033 (G1)
Quality Score 85
Status Validated
Chromosome 17
Chromosomal Location 46941550-46956948 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46946359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 489 (C489S)
Ref Sequence ENSEMBL: ENSMUSP00000003642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003642]
AlphaFold Q9DBS5
Predicted Effect probably damaging
Transcript: ENSMUST00000003642
AA Change: C489S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003642
Gene: ENSMUSG00000003546
AA Change: C489S

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 noncoding transcript
Transcript: ENSMUST00000181301
Meta Mutation Damage Score 0.2128 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 93.3%
Validation Efficiency 100% (81/81)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,115,794 (GRCm39) F110L probably damaging Het
Agr3 C T 12: 35,978,329 (GRCm39) T14M possibly damaging Het
Ankib1 A C 5: 3,819,588 (GRCm39) D110E possibly damaging Het
Auts2 G C 5: 131,468,931 (GRCm39) D571E probably damaging Het
Cacna1d T A 14: 29,827,446 (GRCm39) Q993L probably damaging Het
Cdkn3 C A 14: 47,006,329 (GRCm39) Y141* probably null Het
Ceacam12 T G 7: 17,803,385 (GRCm39) probably benign Het
Celf1 T C 2: 90,831,798 (GRCm39) probably benign Het
Col6a3 A G 1: 90,729,967 (GRCm39) S1780P probably damaging Het
Csf3r A G 4: 125,925,677 (GRCm39) T151A probably benign Het
Ctss G A 3: 95,452,888 (GRCm39) probably benign Het
Emilin2 G T 17: 71,582,009 (GRCm39) T239K probably benign Het
Erp44 T C 4: 48,241,289 (GRCm39) probably benign Het
Fbxl4 T C 4: 22,377,017 (GRCm39) V151A probably damaging Het
Fer1l4 G A 2: 155,866,026 (GRCm39) probably benign Het
Gm43302 T C 5: 105,424,710 (GRCm39) D310G probably benign Het
Gstk1 A G 6: 42,223,737 (GRCm39) probably benign Het
Hapln1 A T 13: 89,749,932 (GRCm39) Q159L probably benign Het
Hibch A G 1: 52,944,610 (GRCm39) K296R probably null Het
Katnip T G 7: 125,360,999 (GRCm39) V103G possibly damaging Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kdm7a A T 6: 39,142,131 (GRCm39) Y382* probably null Het
Kirrel3 A G 9: 34,912,259 (GRCm39) I208V probably benign Het
Lrrc8a G T 2: 30,145,357 (GRCm39) C57F probably damaging Het
Ltbp1 A G 17: 75,583,504 (GRCm39) N435D possibly damaging Het
Macc1 T A 12: 119,410,076 (GRCm39) N281K probably benign Het
Myo16 A T 8: 10,420,955 (GRCm39) Y265F probably damaging Het
Myoc G A 1: 162,476,010 (GRCm39) G238E probably damaging Het
Nlrp12 A C 7: 3,289,037 (GRCm39) S492A probably damaging Het
Obscn A G 11: 58,885,572 (GRCm39) probably benign Het
Oplah T A 15: 76,181,334 (GRCm39) Q1202L probably benign Het
Or5p62 G T 7: 107,771,134 (GRCm39) D272E probably benign Het
Or9s23 A G 1: 92,500,982 (GRCm39) T30A probably benign Het
Ppargc1b G A 18: 61,440,765 (GRCm39) R718W probably damaging Het
Pramel19 A T 4: 101,798,881 (GRCm39) Y284F probably benign Het
Pwwp2b A T 7: 138,834,844 (GRCm39) D95V possibly damaging Het
Rnf225 T C 7: 12,662,085 (GRCm39) L88P probably damaging Het
Slc12a1 A G 2: 125,055,929 (GRCm39) D820G probably benign Het
Slc12a4 G T 8: 106,674,111 (GRCm39) probably benign Het
Slx4 C T 16: 3,805,864 (GRCm39) A72T probably benign Het
Snrnp200 T C 2: 127,079,983 (GRCm39) I1920T probably damaging Het
Stap2 C T 17: 56,306,976 (GRCm39) V234M probably damaging Het
Sv2b A G 7: 74,767,489 (GRCm39) F636L probably benign Het
Tdp1 C T 12: 99,901,311 (GRCm39) T531I probably benign Het
Thra G A 11: 98,655,178 (GRCm39) V353I probably benign Het
Tm7sf2 A G 19: 6,116,452 (GRCm39) probably benign Het
Tmx4 A T 2: 134,442,918 (GRCm39) probably null Het
Tnfrsf12a A G 17: 23,895,119 (GRCm39) probably null Het
Trav6n-5 T A 14: 53,342,368 (GRCm39) M14K probably benign Het
Ttn T A 2: 76,572,624 (GRCm39) I26090F probably damaging Het
Tut1 G T 19: 8,940,123 (GRCm39) R369L probably benign Het
Uba5 T A 9: 103,931,347 (GRCm39) T241S probably benign Het
Unc13d T C 11: 115,959,991 (GRCm39) T597A probably benign Het
Vmn1r58 A T 7: 5,413,387 (GRCm39) I281K probably damaging Het
Vmn1r59 A G 7: 5,457,433 (GRCm39) V109A probably benign Het
Xdh T A 17: 74,214,627 (GRCm39) M773L probably benign Het
Zfp64 A T 2: 168,767,635 (GRCm39) I659N possibly 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
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
Predicted Primers PCR Primer
(F):5'- GGTGGCGGTACACACCTTTCTT -3'
(R):5'- TCTCAGAGCCTTCTCACAGCCC -3'

Sequencing Primer
(F):5'- cctgcctctgcctcctg -3'
(R):5'- GTTTTGTAGCACTTACACGTCTG -3'
Posted On 2013-08-06