Incidental Mutation 'R5742:Klc4'
ID 445637
Institutional Source Beutler Lab
Gene Symbol Klc4
Ensembl Gene ENSMUSG00000003546
Gene Name kinesin light chain 4
Synonyms 1200014P03Rik, Knsl8
MMRRC Submission 043352-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R5742 (G1)
Quality Score 154
Status Not validated
Chromosome 17
Chromosomal Location 46941550-46956948 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46953197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 111 (R111Q)
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 probably damaging
Transcript: ENSMUST00000003642
AA Change: R111Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003642
Gene: ENSMUSG00000003546
AA Change: R111Q

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: ENSMUST00000156464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,056,379 (GRCm39) A794T possibly damaging Het
Abca9 T G 11: 110,051,243 (GRCm39) E151A probably damaging Het
Abcb5 A G 12: 118,881,992 (GRCm39) V579A probably damaging Het
Apob T A 12: 8,057,191 (GRCm39) L1858Q probably damaging Het
Cerk C T 15: 86,025,773 (GRCm39) E223K probably damaging Het
Cntnap2 T A 6: 45,897,860 (GRCm39) Y179* probably null Het
Ddx60 A T 8: 62,401,955 (GRCm39) Y277F probably benign Het
Dlgap1 T G 17: 71,025,194 (GRCm39) V538G probably benign Het
Duox2 A G 2: 122,115,402 (GRCm39) I1050T probably benign Het
Dusp10 A G 1: 183,769,853 (GRCm39) probably null Het
Dync2h1 T A 9: 7,165,762 (GRCm39) I500F possibly damaging Het
Erich3 T A 3: 154,438,960 (GRCm39) C398S probably damaging Het
Fez1 G A 9: 36,761,743 (GRCm39) probably null Het
Fkbp3 A C 12: 65,116,812 (GRCm39) H41Q probably benign Het
Fras1 C G 5: 96,916,240 (GRCm39) Q3425E possibly damaging Het
Fuca1 T C 4: 135,650,286 (GRCm39) V119A probably damaging Het
Grhl2 A G 15: 37,328,616 (GRCm39) K414R probably damaging Het
Heatr5a A T 12: 52,002,335 (GRCm39) C200* probably null Het
Hmgcs2 A G 3: 98,204,832 (GRCm39) N330S probably benign Het
Hspd1 A G 1: 55,123,766 (GRCm39) V118A probably benign Het
Jmjd1c A G 10: 67,056,112 (GRCm39) T511A probably benign Het
Kat6b T C 14: 21,718,503 (GRCm39) S1061P probably damaging Het
Kcnh6 T C 11: 105,899,968 (GRCm39) V79A probably benign Het
Kel C T 6: 41,675,961 (GRCm39) G243E probably damaging Het
Lrp1 T C 10: 127,384,216 (GRCm39) D3641G probably damaging Het
Map2k1 A T 9: 64,101,053 (GRCm39) D208E probably damaging Het
Masp1 T A 16: 23,273,675 (GRCm39) M588L probably benign Het
Mgl2 T A 11: 70,027,510 (GRCm39) N239K probably benign Het
Mki67 G A 7: 135,306,102 (GRCm39) T625M probably benign Het
Ndufb5 T C 3: 32,801,930 (GRCm39) Y112H probably damaging Het
Npr3 A G 15: 11,883,494 (GRCm39) S312P probably damaging Het
Nuf2 A T 1: 169,344,191 (GRCm39) I125N probably damaging Het
Obox1 G A 7: 15,289,430 (GRCm39) G73D possibly damaging Het
Odad4 G A 11: 100,436,699 (GRCm39) G25R possibly damaging Het
Or51a43 G T 7: 103,717,412 (GRCm39) H275Q probably damaging Het
Or8g19 T A 9: 39,055,974 (GRCm39) F193I probably benign Het
Pcdhb15 T C 18: 37,607,820 (GRCm39) S351P probably damaging Het
Phc2 G T 4: 128,639,661 (GRCm39) R121L probably damaging Het
Pla2g2a A G 4: 138,560,653 (GRCm39) K87E probably benign Het
Plekhh2 T A 17: 84,905,408 (GRCm39) S1101T probably damaging Het
Ppp4r1 T C 17: 66,144,741 (GRCm39) I786T probably damaging Het
Prxl2a T C 14: 40,724,460 (GRCm39) E57G possibly damaging Het
Ros1 A T 10: 52,018,234 (GRCm39) probably null Het
Styxl2 A T 1: 165,927,023 (GRCm39) V863E probably benign Het
Trnt1 T A 6: 106,755,878 (GRCm39) L311* probably null Het
Vmn1r47 T A 6: 89,999,500 (GRCm39) L211M probably damaging Het
Zfp12 A G 5: 143,230,945 (GRCm39) E424G probably damaging Het
Zranb2 T A 3: 157,246,340 (GRCm39) Y17* probably null 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
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'- TCCTGGTAACTGAGAACGAGAG -3'
(R):5'- ATGATACATCTCTTGCCACTCACTG -3'

Sequencing Primer
(F):5'- CTGGTAACTGAGAACGAGAGCTTTC -3'
(R):5'- GCCACTCACTGCCGCTTG -3'
Posted On 2016-11-21