Incidental Mutation 'R8719:Klc1'
ID 670035
Institutional Source Beutler Lab
Gene Symbol Klc1
Ensembl Gene ENSMUSG00000021288
Gene Name kinesin light chain 1
Synonyms Kns2
MMRRC Submission 068614-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.498) question?
Stock # R8719 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 111725283-111774278 bp(+) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) G to A at 111772509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000082004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021715] [ENSMUST00000084941] [ENSMUST00000122300] [ENSMUST00000127281] [ENSMUST00000134578]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021715
SMART Domains Protein: ENSMUSP00000021715
Gene: ENSMUSG00000021287

DomainStartEndE-ValueType
Pfam:Rad51 64 343 1.2e-25 PFAM
Pfam:AAA_25 70 261 2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084941
SMART Domains Protein: ENSMUSP00000082004
Gene: ENSMUSG00000021288

DomainStartEndE-ValueType
coiled coil region 86 156 N/A INTRINSIC
low complexity region 158 179 N/A INTRINSIC
low complexity region 188 206 N/A INTRINSIC
Pfam:TPR_10 212 253 3.1e-9 PFAM
TPR 255 288 3.81e-1 SMART
TPR 297 330 1.16e-5 SMART
TPR 339 372 4.77e-2 SMART
TPR 381 414 2.78e-3 SMART
TPR 464 497 4.93e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122300
SMART Domains Protein: ENSMUSP00000113997
Gene: ENSMUSG00000021288

DomainStartEndE-ValueType
Pfam:Rab5-bind 80 254 1e-68 PFAM
Pfam:TPR_10 212 253 8.4e-9 PFAM
TPR 255 288 3.81e-1 SMART
TPR 297 330 1.16e-5 SMART
TPR 339 372 4.77e-2 SMART
TPR 381 414 2.78e-3 SMART
TPR 464 497 2.99e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127281
SMART Domains Protein: ENSMUSP00000118040
Gene: ENSMUSG00000021287

DomainStartEndE-ValueType
Pfam:Rad51 64 193 4e-17 PFAM
Pfam:AAA_25 70 192 2.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134578
SMART Domains Protein: ENSMUSP00000120491
Gene: ENSMUSG00000021288

DomainStartEndE-ValueType
Pfam:TPR_1 1 25 1.9e-4 PFAM
Pfam:TPR_7 1 36 1.9e-4 PFAM
Pfam:TPR_10 75 112 7.8e-9 PFAM
Pfam:TPR_1 77 98 1.4e-4 PFAM
Pfam:TPR_7 78 129 1.7e-5 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named "kinesin 2", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are significantly smaller than normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T C 8: 46,966,700 (GRCm39) I224T probably benign Het
Adamts20 C G 15: 94,241,903 (GRCm39) A702P probably damaging Het
Ahdc1 T A 4: 132,791,533 (GRCm39) Y925N possibly damaging Het
Anapc1 T C 2: 128,483,369 (GRCm39) E1242G probably damaging Het
Angptl2 A G 2: 33,133,914 (GRCm39) N412S possibly damaging Het
Aox3 T C 1: 58,158,696 (GRCm39) V89A probably damaging Het
Atxn1l A T 8: 110,459,861 (GRCm39) S134T possibly damaging Het
Brf1 C A 12: 112,943,304 (GRCm39) probably benign Het
Cab39l A T 14: 59,734,314 (GRCm39) H11L probably benign Het
Cabcoco1 A G 10: 68,272,671 (GRCm39) probably benign Het
Ccdc150 C A 1: 54,302,668 (GRCm39) P96Q probably benign Het
Chek2 T C 5: 111,014,908 (GRCm39) V459A probably damaging Het
Cntnap2 A T 6: 45,978,161 (GRCm39) D272V probably damaging Het
Cspp1 T C 1: 10,160,516 (GRCm39) S572P possibly damaging Het
Cysltr2 T C 14: 73,267,111 (GRCm39) T200A possibly damaging Het
Dglucy T C 12: 100,804,821 (GRCm39) L104P probably damaging Het
Dnah8 T A 17: 30,960,289 (GRCm39) M2222K probably damaging Het
Dync2h1 C A 9: 7,041,641 (GRCm39) V3334F probably benign Het
Ear2 A T 14: 44,340,734 (GRCm39) T131S possibly damaging Het
Eef1akmt2 A T 7: 132,452,340 (GRCm39) V92D probably damaging Het
Fam83c T A 2: 155,671,128 (GRCm39) Q769L probably benign Het
Fanca A T 8: 124,014,867 (GRCm39) C812S probably benign Het
Gm21663 T G 5: 26,146,162 (GRCm39) R50S probably damaging Het
Gm5591 T G 7: 38,221,614 (GRCm39) S152R probably benign Het
Gm6370 T G 5: 146,430,626 (GRCm39) D270E probably damaging Het
H2-T22 T C 17: 36,352,835 (GRCm39) I91V probably benign Het
Hdac5 T C 11: 102,097,963 (GRCm39) M61V probably benign Het
Hsd17b6 A G 10: 127,829,492 (GRCm39) S237P possibly damaging Het
Khk T A 5: 31,088,374 (GRCm39) F294I possibly damaging Het
Lamb3 T C 1: 193,006,099 (GRCm39) W143R probably damaging Het
Lmo2 T C 2: 103,811,264 (GRCm39) I171T probably damaging Het
Meis1 A G 11: 18,835,587 (GRCm39) S344P probably benign Het
Nf1 C A 11: 79,281,119 (GRCm39) R125S possibly damaging Het
Nrcam A G 12: 44,586,325 (GRCm39) E105G probably benign Het
Nudt22 T C 19: 6,972,638 (GRCm39) D150G possibly damaging Het
Or14j8 T C 17: 38,263,895 (GRCm39) T7A probably damaging Het
Or5an1 A G 19: 12,260,792 (GRCm39) I127V probably benign Het
Or5b109 A G 19: 13,211,836 (GRCm39) Y74C probably damaging Het
Pclo A T 5: 14,763,778 (GRCm39) R799* probably null Het
Pelp1 T C 11: 70,292,789 (GRCm39) N175S probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pik3r4 C A 9: 105,559,394 (GRCm39) S1162R probably benign Het
Pkd1l3 A T 8: 110,341,255 (GRCm39) N36I unknown Het
Pomk T A 8: 26,473,503 (GRCm39) Y150F possibly damaging Het
Rdh11 T A 12: 79,229,574 (GRCm39) H233L probably benign Het
Rln1 A T 19: 29,309,281 (GRCm39) M166K probably benign Het
Rnf40 T A 7: 127,191,834 (GRCm39) L356Q probably damaging Het
Sin3b G T 8: 73,450,139 (GRCm39) G19W unknown Het
Slc6a15 A G 10: 103,240,176 (GRCm39) R300G probably damaging Het
Sncaip A T 18: 53,027,910 (GRCm39) K433M probably damaging Het
Tead2 A T 7: 44,882,316 (GRCm39) probably benign Het
Tespa1 A G 10: 130,184,108 (GRCm39) D63G probably benign Het
Tmem117 T C 15: 94,992,248 (GRCm39) F303L probably damaging Het
Tmem270 T G 5: 134,930,650 (GRCm39) T204P probably damaging Het
Trip12 A G 1: 84,722,790 (GRCm39) V1320A probably damaging Het
Ttc7b A G 12: 100,267,812 (GRCm39) L843P probably damaging Het
Ttn T C 2: 76,543,041 (GRCm39) Y33315C probably damaging Het
Ttn A G 2: 76,607,146 (GRCm39) V17959A possibly damaging Het
Vmn2r73 A G 7: 85,521,095 (GRCm39) V291A probably damaging Het
Ywhag T A 5: 135,939,998 (GRCm39) T199S probably benign Het
Zfp810 T C 9: 22,190,571 (GRCm39) T77A probably benign Het
Other mutations in Klc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Klc1 APN 12 111,743,318 (GRCm39) missense probably damaging 1.00
IGL00940:Klc1 APN 12 111,753,932 (GRCm39) missense probably damaging 1.00
IGL02206:Klc1 APN 12 111,744,550 (GRCm39) unclassified probably benign
IGL02487:Klc1 APN 12 111,738,886 (GRCm39) missense probably damaging 0.99
IGL02490:Klc1 APN 12 111,748,210 (GRCm39) missense possibly damaging 0.89
IGL02830:Klc1 APN 12 111,743,341 (GRCm39) missense probably damaging 0.99
IGL03121:Klc1 APN 12 111,748,076 (GRCm39) unclassified probably benign
IGL03253:Klc1 APN 12 111,748,078 (GRCm39) unclassified probably benign
IGL03376:Klc1 APN 12 111,742,387 (GRCm39) missense probably damaging 0.97
dwarf UTSW 12 111,762,037 (GRCm39) missense probably damaging 1.00
F5770:Klc1 UTSW 12 111,741,006 (GRCm39) missense probably benign 0.09
R0031:Klc1 UTSW 12 111,743,467 (GRCm39) missense probably damaging 0.99
R0239:Klc1 UTSW 12 111,751,758 (GRCm39) splice site probably benign
R1647:Klc1 UTSW 12 111,743,321 (GRCm39) missense probably damaging 1.00
R1648:Klc1 UTSW 12 111,743,321 (GRCm39) missense probably damaging 1.00
R1892:Klc1 UTSW 12 111,748,261 (GRCm39) critical splice donor site probably null
R2940:Klc1 UTSW 12 111,772,451 (GRCm39) missense possibly damaging 0.49
R4829:Klc1 UTSW 12 111,762,037 (GRCm39) missense probably damaging 1.00
R4849:Klc1 UTSW 12 111,748,129 (GRCm39) missense probably damaging 1.00
R5309:Klc1 UTSW 12 111,762,055 (GRCm39) missense possibly damaging 0.82
R5312:Klc1 UTSW 12 111,762,055 (GRCm39) missense possibly damaging 0.82
R5637:Klc1 UTSW 12 111,740,842 (GRCm39) missense probably damaging 1.00
R5706:Klc1 UTSW 12 111,762,061 (GRCm39) missense possibly damaging 0.65
R6623:Klc1 UTSW 12 111,772,475 (GRCm39) missense probably damaging 1.00
R6920:Klc1 UTSW 12 111,754,019 (GRCm39) missense probably damaging 1.00
R7109:Klc1 UTSW 12 111,743,299 (GRCm39) missense probably benign 0.22
R7538:Klc1 UTSW 12 111,751,879 (GRCm39) missense probably benign 0.01
R8051:Klc1 UTSW 12 111,748,384 (GRCm39) missense possibly damaging 0.58
R8995:Klc1 UTSW 12 111,743,344 (GRCm39) missense probably damaging 1.00
R9420:Klc1 UTSW 12 111,738,950 (GRCm39) missense probably damaging 0.99
V7580:Klc1 UTSW 12 111,741,006 (GRCm39) missense probably benign 0.09
V7581:Klc1 UTSW 12 111,741,006 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- AGTTTGGGGTCTTCAGGCAC -3'
(R):5'- TCACTGCAAGAGAAAGCTGCAG -3'

Sequencing Primer
(F):5'- GGCACTTTTGGCTGGCC -3'
(R):5'- TGCAGGTCAGGTCACCACTG -3'
Posted On 2021-04-30