Incidental Mutation 'R8510:Klc4'
ID 655832
Institutional Source Beutler Lab
Gene Symbol Klc4
Ensembl Gene ENSMUSG00000003546
Gene Name kinesin light chain 4
Synonyms 1200014P03Rik, Knsl8
MMRRC Submission 067845-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R8510 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 46941550-46956948 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 46955230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 68 (A68V)
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: A68V

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003642
Gene: ENSMUSG00000003546
AA Change: A68V

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: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A T 17: 43,030,431 (GRCm39) C9* probably null Het
Avil A G 10: 126,845,650 (GRCm39) N331S probably benign Het
Casp1 G A 9: 5,303,026 (GRCm39) R160H probably damaging Het
Celsr3 T C 9: 108,715,319 (GRCm39) F2105L possibly damaging Het
Cenpf A T 1: 189,382,903 (GRCm39) S2664T probably benign Het
Cfap221 T A 1: 119,917,177 (GRCm39) K75* probably null Het
Cmtr2 T C 8: 110,949,067 (GRCm39) V459A possibly damaging Het
Col5a3 A T 9: 20,705,028 (GRCm39) D740E unknown Het
Crybg2 C A 4: 133,800,670 (GRCm39) A301E probably benign Het
Cwf19l2 A G 9: 3,454,732 (GRCm39) I682V possibly damaging Het
Dach1 T C 14: 98,140,595 (GRCm39) D521G probably damaging Het
Dync1h1 T A 12: 110,583,177 (GRCm39) Y425N possibly damaging Het
Emc3 G T 6: 113,508,350 (GRCm39) H32N probably damaging Het
Exosc10 T C 4: 148,648,646 (GRCm39) L304P probably damaging Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Fhip2a A T 19: 57,370,752 (GRCm39) K557I probably benign Het
Gldc T A 19: 30,093,905 (GRCm39) Y704F probably damaging Het
Gm11077 A G 6: 140,675,032 (GRCm39) N8S unknown Het
Gm4553 GCAGCCCCCACAGGAACTACAACCACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGA GCAGCCCCCACAGGA 7: 141,719,025 (GRCm39) probably benign Het
Gpam A G 19: 55,068,814 (GRCm39) probably null Het
Gss G A 2: 155,409,744 (GRCm39) Q300* probably null Het
Hydin T A 8: 111,233,202 (GRCm39) L1767H probably damaging Het
Igf2r A G 17: 12,923,200 (GRCm39) V1203A probably benign Het
Kcnf1 T A 12: 17,225,939 (GRCm39) D94V probably damaging Het
Kif18a T A 2: 109,127,109 (GRCm39) Y348N probably damaging Het
Lhx4 G T 1: 155,578,047 (GRCm39) T365K probably damaging Het
Mid1 A G X: 168,768,019 (GRCm39) E389G probably benign Het
Muc4 CAC CACTAC 16: 32,575,367 (GRCm39) probably benign Het
Myo1e C T 9: 70,242,547 (GRCm39) A354V probably damaging Het
Ncoa1 T C 12: 4,309,303 (GRCm39) N1331S probably benign Het
Npas2 T C 1: 39,326,553 (GRCm39) S13P probably damaging Het
Nps C T 7: 134,874,079 (GRCm39) S83L probably damaging Het
Or10j3 T C 1: 173,031,411 (GRCm39) S163P probably damaging Het
Or2ag19 A G 7: 106,444,130 (GRCm39) E104G probably benign Het
Or52b4 A G 7: 102,184,170 (GRCm39) D72G probably damaging Het
Or52e18 G T 7: 104,609,321 (GRCm39) S206* probably null Het
Or6c213 A G 10: 129,574,054 (GRCm39) V244A probably benign Het
Pcdh12 T C 18: 38,415,109 (GRCm39) D672G possibly damaging Het
Pcolce2 T C 9: 95,563,700 (GRCm39) Y229H probably damaging Het
Pga5 C T 19: 10,655,308 (GRCm39) V10M possibly damaging Het
Phyh A G 2: 4,932,244 (GRCm39) D110G probably benign Het
Pias1 C T 9: 62,830,919 (GRCm39) R163H probably damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Pole T C 5: 110,482,312 (GRCm39) Y2051H probably damaging Het
Rbbp8 A T 18: 11,829,859 (GRCm39) K141* probably null Het
Rin2 T A 2: 145,727,611 (GRCm39) V827E probably damaging Het
Spata31e3 T C 13: 50,404,228 (GRCm39) M25V probably benign Het
Spatc1 A G 15: 76,176,512 (GRCm39) Y421C probably damaging Het
Strada T C 11: 106,061,984 (GRCm39) Y152C probably damaging Het
Top1mt A G 15: 75,541,151 (GRCm39) V212A probably benign Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Tubgcp6 C A 15: 88,987,152 (GRCm39) G1274W possibly damaging Het
Unc79 T A 12: 103,070,898 (GRCm39) I1231N probably damaging Het
Upp2 T C 2: 58,670,118 (GRCm39) S275P probably damaging Het
Usp4 T A 9: 108,265,581 (GRCm39) probably null Het
Usp47 A G 7: 111,658,208 (GRCm39) T196A probably damaging Het
Vmn2r116 A T 17: 23,604,905 (GRCm39) K73* probably null Het
Wdr74 T A 19: 8,715,274 (GRCm39) H144Q probably benign Het
Zan A T 5: 137,387,200 (GRCm39) M4951K unknown 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
R8273:Klc4 UTSW 17 46,953,080 (GRCm39) missense possibly damaging 0.92
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'- GCTGCCTGCTGGACCATC -3'
(R):5'- GCCTAGGATGTCAGGCTTGG -3'

Sequencing Primer
(F):5'- GGACTTGAACTCAGGACCTCTAG -3'
(R):5'- GCAGCGGGATGAGCCTG -3'
Posted On 2020-10-20