Incidental Mutation 'IGL00337:Klc4'
ID 3840
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klc4
Ensembl Gene ENSMUSG00000003546
Gene Name kinesin light chain 4
Synonyms 1200014P03Rik, Knsl8
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # IGL00337
Quality Score
Status
Chromosome 17
Chromosomal Location 46941550-46956948 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46946361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 488 (E488G)
Ref Sequence ENSEMBL: ENSMUSP00000003642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003642]
AlphaFold Q9DBS5
Predicted Effect probably damaging
Transcript: ENSMUST00000003642
AA Change: E488G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003642
Gene: ENSMUSG00000003546
AA Change: E488G

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1ar A T 3: 127,614,401 (GRCm39) probably benign Het
Ap1ar A C 3: 127,614,400 (GRCm39) probably benign Het
Apip A T 2: 102,922,257 (GRCm39) T208S probably benign Het
Arhgap11a A G 2: 113,672,287 (GRCm39) V227A probably damaging Het
Atrn G T 2: 130,799,999 (GRCm39) V459F probably damaging Het
Cep295 T C 9: 15,237,368 (GRCm39) probably null Het
Cfhr1 A G 1: 139,484,253 (GRCm39) probably benign Het
D5Ertd615e A G 5: 45,320,769 (GRCm39) noncoding transcript Het
Dhx29 A G 13: 113,101,137 (GRCm39) I1227V probably benign Het
Fam98a T C 17: 75,858,742 (GRCm39) D16G probably damaging Het
Frk A G 10: 34,360,239 (GRCm39) D80G probably damaging Het
Gabbr2 A T 4: 46,787,600 (GRCm39) H354Q probably damaging Het
Ggps1 G A 13: 14,228,973 (GRCm39) S70L probably damaging Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Hpx T C 7: 105,240,977 (GRCm39) Y432C probably damaging Het
Hyal2 T C 9: 107,449,371 (GRCm39) C376R probably damaging Het
Il10rb G A 16: 91,203,227 (GRCm39) A8T probably benign Het
Ing5 G T 1: 93,733,816 (GRCm39) M1I probably null Het
Kcnc4 C T 3: 107,355,189 (GRCm39) D420N probably benign Het
Kcnj8 T C 6: 142,515,961 (GRCm39) N49D probably damaging Het
Kif26b C A 1: 178,743,213 (GRCm39) A656D probably damaging Het
Mtmr4 C T 11: 87,502,750 (GRCm39) H878Y probably benign Het
Ndufaf7 T C 17: 79,254,520 (GRCm39) probably benign Het
Nlrp14 T G 7: 106,781,308 (GRCm39) D168E possibly damaging Het
Ogdhl T C 14: 32,055,669 (GRCm39) F251S probably damaging Het
Or1p1 T C 11: 74,180,213 (GRCm39) V247A probably damaging Het
P2rx5 A T 11: 73,058,318 (GRCm39) probably null Het
Parp14 G A 16: 35,661,445 (GRCm39) T1501I probably benign Het
Prl3c1 C A 13: 27,384,746 (GRCm39) T85K probably damaging Het
Psg27 A G 7: 18,295,729 (GRCm39) Y239H probably damaging Het
Pzp T C 6: 128,493,872 (GRCm39) R300G probably benign Het
Sec16a A G 2: 26,329,499 (GRCm39) S839P probably benign Het
Sphkap T A 1: 83,317,329 (GRCm39) D56V probably damaging Het
Srrt C T 5: 137,294,240 (GRCm39) probably benign Het
Sstr3 T A 15: 78,424,667 (GRCm39) T27S probably benign Het
Taf1d C A 9: 15,222,899 (GRCm39) S255Y probably damaging Het
Tbc1d15 C A 10: 115,045,546 (GRCm39) E473* probably null Het
Tmem247 T C 17: 87,224,963 (GRCm39) V24A probably benign Het
Txnrd2 T C 16: 18,296,519 (GRCm39) C494R probably damaging Het
Zfp180 A G 7: 23,784,894 (GRCm39) D5G probably damaging Het
Other mutations in Klc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20