Incidental Mutation 'R6224:Klc4'
ID 504225
Institutional Source Beutler Lab
Gene Symbol Klc4
Ensembl Gene ENSMUSG00000003546
Gene Name kinesin light chain 4
Synonyms 1200014P03Rik, Knsl8
MMRRC Submission 044355-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R6224 (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 G at 46950988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 207 (I207T)
Ref Sequence ENSEMBL: ENSMUSP00000003642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003642]
AlphaFold Q9DBS5
Predicted Effect possibly damaging
Transcript: ENSMUST00000003642
AA Change: I207T

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000003642
Gene: ENSMUSG00000003546
AA Change: I207T

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 0.3551 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A C 11: 99,728,840 (GRCm39) M1R probably null Het
4930505A04Rik A C 11: 30,404,815 (GRCm39) N29K probably benign Het
Adamtsl4 T C 3: 95,589,039 (GRCm39) Y464C probably damaging Het
Asgr2 T C 11: 69,989,072 (GRCm39) V172A probably damaging Het
Atad1 T C 19: 32,676,028 (GRCm39) Y132C probably damaging Het
Bpifa6 G A 2: 153,829,073 (GRCm39) R200H probably damaging Het
Brd1 A T 15: 88,572,558 (GRCm39) M1171K possibly damaging Het
Cadm2 A T 16: 66,461,281 (GRCm39) L392Q probably damaging Het
Ccdc183 C T 2: 25,500,594 (GRCm39) E333K possibly damaging Het
Cenpe T C 3: 134,949,536 (GRCm39) I1335T possibly damaging Het
Cpxm2 T C 7: 131,745,460 (GRCm39) N122D probably benign Het
Crls1 T A 2: 132,691,770 (GRCm39) probably null Het
Cyp46a1 T C 12: 108,327,819 (GRCm39) F460S probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dcps T A 9: 35,047,777 (GRCm39) T128S probably benign Het
Dcun1d3 A T 7: 119,458,714 (GRCm39) L107* probably null Het
Eml1 T C 12: 108,480,767 (GRCm39) F397S probably damaging Het
Fanca T A 8: 124,032,020 (GRCm39) H348L possibly damaging Het
Foxo1 T A 3: 52,253,093 (GRCm39) S419T probably benign Het
Gli3 T C 13: 15,899,730 (GRCm39) V1039A probably benign Het
Gng14 A T 8: 85,794,220 (GRCm39) *73R probably null Het
Gp6 A T 7: 4,397,211 (GRCm39) F75I probably benign Het
Gpha2 T A 19: 6,277,142 (GRCm39) I81N possibly damaging Het
Gspt1 C A 16: 11,042,406 (GRCm39) V493L probably benign Het
Igsf10 C A 3: 59,232,931 (GRCm39) C1934F probably damaging Het
Irgm1 T C 11: 48,757,713 (GRCm39) T49A probably benign Het
Krt1 A T 15: 101,758,702 (GRCm39) V154D possibly damaging Het
Lama1 T C 17: 68,109,982 (GRCm39) V2201A possibly damaging Het
Lilrb4a T A 10: 51,367,745 (GRCm39) Y96N probably damaging Het
Lrfn2 A G 17: 49,403,379 (GRCm39) T501A probably damaging Het
Lrriq1 A G 10: 103,051,618 (GRCm39) I378T probably damaging Het
Mphosph8 T C 14: 56,905,810 (GRCm39) M1T probably null Het
Nsd1 T C 13: 55,460,945 (GRCm39) S2391P possibly damaging Het
Ogdhl G A 14: 32,064,018 (GRCm39) G647D probably benign Het
Or5p57 T C 7: 107,665,949 (GRCm39) I19V probably benign Het
Or6c76b A G 10: 129,693,061 (GRCm39) K225E probably benign Het
Pbrm1 T A 14: 30,772,068 (GRCm39) H387Q probably benign Het
Pdgfrb C A 18: 61,215,011 (GRCm39) Y1013* probably null Het
Pitrm1 T C 13: 6,615,090 (GRCm39) V562A probably damaging Het
Pnpla8 T C 12: 44,329,811 (GRCm39) V121A possibly damaging Het
Psd4 T C 2: 24,291,569 (GRCm39) L639P probably damaging Het
Psmc3 G T 2: 90,884,975 (GRCm39) R47L probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sesn2 A G 4: 132,229,881 (GRCm39) V50A probably benign Het
Skic3 C T 13: 76,266,410 (GRCm39) T219M probably benign Het
Slc6a16 G A 7: 44,910,572 (GRCm39) G377S probably damaging Het
Slitrk1 A G 14: 109,149,454 (GRCm39) F419S probably damaging Het
Slitrk5 GACTAC GACTACTAC 14: 111,917,248 (GRCm39) probably benign Het
Spata31d1a T A 13: 59,854,134 (GRCm39) probably benign Homo
Tgoln1 A T 6: 72,592,984 (GRCm39) D165E possibly damaging Het
Tmprss15 T A 16: 78,821,266 (GRCm39) T492S probably benign Het
Zc3h13 T A 14: 75,574,849 (GRCm39) M1565K probably damaging Het
Zcwpw1 T C 5: 137,810,298 (GRCm39) V358A possibly damaging Het
Zfp607a A G 7: 27,578,007 (GRCm39) H359R probably damaging Het
Zzef1 T A 11: 72,746,209 (GRCm39) V837E 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
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'- ACACCAGAGCCAGGATGTTG -3'
(R):5'- TGACTTACTGAGCGAATAAATGGG -3'

Sequencing Primer
(F):5'- TTGAGCATGGTAGCCACATC -3'
(R):5'- AACAGCAGTGGTGTGGAGTCTC -3'
Posted On 2018-02-28