Incidental Mutation 'R5921:Kif13a'
ID 461597
Institutional Source Beutler Lab
Gene Symbol Kif13a
Ensembl Gene ENSMUSG00000021375
Gene Name kinesin family member 13A
Synonyms 4930505I07Rik, N-3 kinesin
MMRRC Submission 044118-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R5921 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 46902563-47083343 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46978776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 208 (T208K)
Ref Sequence ENSEMBL: ENSMUSP00000055304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056978] [ENSMUST00000225591]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000056978
AA Change: T208K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: T208K

DomainStartEndE-ValueType
KISc 3 360 2.69e-175 SMART
low complexity region 368 381 N/A INTRINSIC
low complexity region 391 406 N/A INTRINSIC
FHA 469 519 7.16e-2 SMART
coiled coil region 605 639 N/A INTRINSIC
coiled coil region 664 704 N/A INTRINSIC
Pfam:KIF1B 748 792 1.7e-19 PFAM
low complexity region 840 854 N/A INTRINSIC
low complexity region 903 915 N/A INTRINSIC
Pfam:DUF3694 1003 1270 2.2e-39 PFAM
low complexity region 1401 1412 N/A INTRINSIC
low complexity region 1475 1492 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000225591
AA Change: T145K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.5129 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 95% (70/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased anxiety. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 G A 5: 35,969,555 (GRCm39) V223M probably damaging Het
Adamts7 T C 9: 90,070,747 (GRCm39) S623P probably benign Het
Aqp7 G T 4: 41,036,093 (GRCm39) N48K probably benign Het
Asic4 A G 1: 75,428,017 (GRCm39) N181S probably benign Het
Blvra A T 2: 126,929,283 (GRCm39) probably benign Het
Bmf C A 2: 118,363,034 (GRCm39) probably benign Het
Bnc2 A T 4: 84,211,292 (GRCm39) I454N possibly damaging Het
Catsperg1 A T 7: 28,889,948 (GRCm39) L700H possibly damaging Het
Ccdc14 T C 16: 34,526,761 (GRCm39) V222A probably damaging Het
Cfap97d2 G T 8: 13,784,840 (GRCm39) A34S probably damaging Het
Clstn3 A T 6: 124,408,539 (GRCm39) probably benign Het
Col15a1 A T 4: 47,300,602 (GRCm39) I1066F probably damaging Het
Dcdc2c T C 12: 28,574,774 (GRCm39) E116G possibly damaging Het
Dop1a G A 9: 86,383,975 (GRCm39) S310N probably damaging Het
Dync1h1 T A 12: 110,584,802 (GRCm39) V735E probably damaging Het
Eva1a T C 6: 82,069,140 (GRCm39) Y156H probably damaging Het
Fbxw26 A G 9: 109,575,086 (GRCm39) I13T probably damaging Het
Fermt2 A T 14: 45,702,203 (GRCm39) L527Q probably damaging Het
Fxyd4 G A 6: 117,913,099 (GRCm39) probably benign Het
Gal A G 19: 3,460,100 (GRCm39) S124P probably damaging Het
Glmp T C 3: 88,233,283 (GRCm39) S56P probably benign Het
Gm5600 T C 7: 113,307,413 (GRCm39) noncoding transcript Het
Golga2 A G 2: 32,187,767 (GRCm39) N194S probably benign Het
Gon4l T C 3: 88,817,254 (GRCm39) probably benign Het
Gtf2ird2 T A 5: 134,246,426 (GRCm39) Y895N probably damaging Het
Hsd3b1 C A 3: 98,765,215 (GRCm39) M22I probably benign Het
Ipo13 A C 4: 117,769,286 (GRCm39) L169V probably benign Het
Klhl5 G T 5: 65,320,299 (GRCm39) A618S probably damaging Het
Lrig2 A T 3: 104,370,070 (GRCm39) L496* probably null Het
Macf1 A G 4: 123,420,504 (GRCm39) I250T probably benign Het
Man1a A G 10: 53,783,606 (GRCm39) I632T probably damaging Het
Nav2 A G 7: 48,954,324 (GRCm39) probably benign Het
Nek8 A G 11: 78,063,885 (GRCm39) M40T probably damaging Het
Oas3 T C 5: 120,908,046 (GRCm39) D298G probably damaging Het
Ociad1 A G 5: 73,467,725 (GRCm39) D167G probably benign Het
Or14j4 A T 17: 37,921,110 (GRCm39) C177* probably null Het
Or8s5 T C 15: 98,238,310 (GRCm39) T187A probably benign Het
Or9s13 T A 1: 92,548,344 (GRCm39) S239T probably benign Het
Pafah2 G T 4: 134,145,380 (GRCm39) V255L probably benign Het
Pde10a A G 17: 9,149,369 (GRCm39) Y407C probably damaging Het
Pirb A C 7: 3,719,693 (GRCm39) Y484* probably null Het
Prl8a6 A G 13: 27,621,171 (GRCm39) S20P probably damaging Het
R3hdm4 A T 10: 79,749,453 (GRCm39) V52E probably damaging Het
Rab3ip A G 10: 116,775,152 (GRCm39) Y69H probably damaging Het
Rxrg T C 1: 167,466,808 (GRCm39) M330T possibly damaging Het
Sema4g G T 19: 44,987,143 (GRCm39) G460V probably benign Het
Sidt1 T C 16: 44,094,098 (GRCm39) probably benign Het
Slc12a2 T A 18: 58,065,595 (GRCm39) D943E probably benign Het
Slc12a4 T C 8: 106,671,876 (GRCm39) probably null Het
Slc4a3 T G 1: 75,534,088 (GRCm39) probably null Het
Slc4a8 C T 15: 100,712,328 (GRCm39) probably benign Het
Srcap T A 7: 127,158,005 (GRCm39) probably benign Het
Stk39 A G 2: 68,196,449 (GRCm39) S327P probably damaging Het
Tbc1d5 G A 17: 51,270,721 (GRCm39) T170M probably damaging Het
Trim13 T A 14: 61,842,538 (GRCm39) F185Y probably benign Het
Ttc17 A G 2: 94,209,193 (GRCm39) V87A probably damaging Het
Ttn A T 2: 76,551,207 (GRCm39) M31395K possibly damaging Het
Usp34 T A 11: 23,414,686 (GRCm39) D2876E probably damaging Het
Uvssa T C 5: 33,547,096 (GRCm39) S221P probably benign Het
Vmn2r93 T A 17: 18,546,030 (GRCm39) L634Q probably damaging Het
Vmp1 C T 11: 86,477,336 (GRCm39) A355T probably benign Het
Xpo5 A T 17: 46,532,347 (GRCm39) M461L probably benign Het
Zfp759 T A 13: 67,288,558 (GRCm39) F703Y probably damaging Het
Other mutations in Kif13a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Kif13a APN 13 46,904,110 (GRCm39) splice site probably benign
IGL01433:Kif13a APN 13 46,926,384 (GRCm39) missense probably damaging 1.00
IGL01528:Kif13a APN 13 47,018,313 (GRCm39) splice site probably benign
IGL01536:Kif13a APN 13 46,905,765 (GRCm39) missense probably damaging 0.96
IGL01620:Kif13a APN 13 47,018,296 (GRCm39) missense probably benign
IGL02020:Kif13a APN 13 46,947,495 (GRCm39) missense probably benign 0.05
IGL02142:Kif13a APN 13 46,925,011 (GRCm39) missense probably benign 0.04
IGL02375:Kif13a APN 13 46,978,698 (GRCm39) missense probably damaging 1.00
IGL02407:Kif13a APN 13 46,938,769 (GRCm39) missense probably damaging 0.99
IGL02476:Kif13a APN 13 46,938,772 (GRCm39) missense probably damaging 1.00
IGL03038:Kif13a APN 13 46,926,314 (GRCm39) missense probably damaging 1.00
IGL03053:Kif13a APN 13 46,905,564 (GRCm39) missense probably benign 0.01
IGL03366:Kif13a APN 13 46,918,099 (GRCm39) missense probably benign 0.00
R0025:Kif13a UTSW 13 46,939,987 (GRCm39) critical splice donor site probably null
R0106:Kif13a UTSW 13 46,978,823 (GRCm39) splice site probably benign
R0106:Kif13a UTSW 13 46,978,823 (GRCm39) splice site probably benign
R0135:Kif13a UTSW 13 46,947,419 (GRCm39) missense probably damaging 0.99
R0137:Kif13a UTSW 13 46,918,079 (GRCm39) missense probably benign 0.38
R0243:Kif13a UTSW 13 46,944,827 (GRCm39) missense probably benign 0.24
R0346:Kif13a UTSW 13 46,967,695 (GRCm39) missense possibly damaging 0.95
R0403:Kif13a UTSW 13 46,944,877 (GRCm39) missense probably damaging 1.00
R0492:Kif13a UTSW 13 46,966,218 (GRCm39) missense possibly damaging 0.93
R0607:Kif13a UTSW 13 46,956,187 (GRCm39) missense probably damaging 0.96
R0631:Kif13a UTSW 13 46,932,364 (GRCm39) unclassified probably benign
R0654:Kif13a UTSW 13 46,966,218 (GRCm39) missense possibly damaging 0.93
R0697:Kif13a UTSW 13 47,001,813 (GRCm39) missense probably benign 0.19
R0699:Kif13a UTSW 13 46,952,689 (GRCm39) missense possibly damaging 0.92
R0715:Kif13a UTSW 13 46,966,299 (GRCm39) missense probably damaging 0.98
R0834:Kif13a UTSW 13 46,967,712 (GRCm39) missense probably damaging 0.96
R0903:Kif13a UTSW 13 47,082,735 (GRCm39) missense possibly damaging 0.75
R1419:Kif13a UTSW 13 46,978,711 (GRCm39) missense probably damaging 1.00
R1428:Kif13a UTSW 13 46,944,987 (GRCm39) splice site probably benign
R1449:Kif13a UTSW 13 46,966,212 (GRCm39) missense probably damaging 1.00
R1463:Kif13a UTSW 13 47,083,088 (GRCm39) missense possibly damaging 0.75
R1541:Kif13a UTSW 13 46,962,689 (GRCm39) missense probably benign
R1579:Kif13a UTSW 13 46,906,332 (GRCm39) missense possibly damaging 0.93
R1582:Kif13a UTSW 13 46,947,398 (GRCm39) missense probably benign 0.03
R1644:Kif13a UTSW 13 46,947,398 (GRCm39) missense probably benign 0.31
R1752:Kif13a UTSW 13 46,951,885 (GRCm39) missense probably damaging 1.00
R1755:Kif13a UTSW 13 46,927,154 (GRCm39) missense possibly damaging 0.50
R1755:Kif13a UTSW 13 46,906,089 (GRCm39) missense possibly damaging 0.73
R1858:Kif13a UTSW 13 47,018,314 (GRCm39) splice site probably benign
R1891:Kif13a UTSW 13 47,082,695 (GRCm39) missense possibly damaging 0.63
R1902:Kif13a UTSW 13 46,941,638 (GRCm39) missense probably benign 0.00
R1928:Kif13a UTSW 13 46,966,221 (GRCm39) missense probably damaging 1.00
R1960:Kif13a UTSW 13 47,018,314 (GRCm39) splice site probably benign
R1961:Kif13a UTSW 13 47,018,314 (GRCm39) splice site probably benign
R2016:Kif13a UTSW 13 46,964,275 (GRCm39) missense probably benign 0.13
R2139:Kif13a UTSW 13 46,905,945 (GRCm39) missense possibly damaging 0.92
R2174:Kif13a UTSW 13 46,922,652 (GRCm39) missense probably damaging 0.99
R2407:Kif13a UTSW 13 46,930,573 (GRCm39) missense probably damaging 1.00
R2504:Kif13a UTSW 13 46,967,676 (GRCm39) missense probably damaging 1.00
R3122:Kif13a UTSW 13 46,918,072 (GRCm39) splice site probably benign
R3499:Kif13a UTSW 13 46,978,815 (GRCm39) missense probably damaging 1.00
R3905:Kif13a UTSW 13 46,956,166 (GRCm39) missense probably damaging 1.00
R4474:Kif13a UTSW 13 46,967,631 (GRCm39) splice site probably null
R4771:Kif13a UTSW 13 46,978,687 (GRCm39) missense probably damaging 1.00
R4838:Kif13a UTSW 13 46,980,224 (GRCm39) missense probably damaging 1.00
R4924:Kif13a UTSW 13 47,083,075 (GRCm39) missense probably damaging 1.00
R4931:Kif13a UTSW 13 46,962,531 (GRCm39) missense probably damaging 0.96
R4980:Kif13a UTSW 13 46,906,222 (GRCm39) missense possibly damaging 0.76
R4992:Kif13a UTSW 13 46,930,639 (GRCm39) missense probably damaging 0.96
R5047:Kif13a UTSW 13 46,941,561 (GRCm39) missense probably benign 0.00
R5054:Kif13a UTSW 13 46,956,122 (GRCm39) missense probably damaging 1.00
R5141:Kif13a UTSW 13 46,906,197 (GRCm39) missense probably benign
R5329:Kif13a UTSW 13 46,928,877 (GRCm39) critical splice donor site probably null
R5429:Kif13a UTSW 13 46,926,245 (GRCm39) critical splice donor site probably null
R5499:Kif13a UTSW 13 46,986,212 (GRCm39) missense probably damaging 1.00
R5509:Kif13a UTSW 13 46,905,591 (GRCm39) missense probably benign 0.13
R5594:Kif13a UTSW 13 46,906,338 (GRCm39) missense probably damaging 1.00
R5964:Kif13a UTSW 13 46,925,000 (GRCm39) missense probably damaging 1.00
R6115:Kif13a UTSW 13 46,954,789 (GRCm39) missense probably damaging 1.00
R6317:Kif13a UTSW 13 46,980,233 (GRCm39) missense probably damaging 1.00
R6318:Kif13a UTSW 13 46,968,683 (GRCm39) splice site probably null
R6393:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R6394:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R6395:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R6735:Kif13a UTSW 13 46,906,222 (GRCm39) missense possibly damaging 0.76
R7037:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R7038:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R7039:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R7237:Kif13a UTSW 13 46,962,632 (GRCm39) critical splice donor site probably null
R7285:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R7286:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R7287:Kif13a UTSW 13 46,905,931 (GRCm39) missense possibly damaging 0.95
R7341:Kif13a UTSW 13 46,980,221 (GRCm39) missense probably damaging 1.00
R7693:Kif13a UTSW 13 46,904,089 (GRCm39) missense probably benign 0.01
R7761:Kif13a UTSW 13 46,951,955 (GRCm39) missense probably benign
R8098:Kif13a UTSW 13 46,968,780 (GRCm39) missense probably damaging 1.00
R8171:Kif13a UTSW 13 46,932,444 (GRCm39) missense probably damaging 1.00
R8271:Kif13a UTSW 13 46,906,057 (GRCm39) missense probably benign 0.01
R8806:Kif13a UTSW 13 46,914,813 (GRCm39) missense possibly damaging 0.49
R8871:Kif13a UTSW 13 46,984,279 (GRCm39) missense probably damaging 1.00
R8877:Kif13a UTSW 13 46,954,921 (GRCm39) critical splice acceptor site probably null
R8906:Kif13a UTSW 13 46,927,154 (GRCm39) missense probably benign 0.17
R9028:Kif13a UTSW 13 46,951,841 (GRCm39) missense probably damaging 1.00
R9058:Kif13a UTSW 13 46,944,941 (GRCm39) missense probably damaging 1.00
R9062:Kif13a UTSW 13 46,941,536 (GRCm39) missense possibly damaging 0.91
R9070:Kif13a UTSW 13 46,905,934 (GRCm39) missense probably benign 0.00
R9083:Kif13a UTSW 13 46,966,263 (GRCm39) missense probably damaging 1.00
R9250:Kif13a UTSW 13 46,928,909 (GRCm39) missense probably damaging 1.00
R9328:Kif13a UTSW 13 46,951,838 (GRCm39) missense probably damaging 1.00
R9360:Kif13a UTSW 13 46,962,472 (GRCm39) missense probably benign 0.01
R9369:Kif13a UTSW 13 46,940,099 (GRCm39) missense probably damaging 0.99
R9589:Kif13a UTSW 13 46,956,020 (GRCm39) missense probably benign 0.01
R9749:Kif13a UTSW 13 46,914,227 (GRCm39) missense probably damaging 0.96
X0013:Kif13a UTSW 13 47,082,746 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- ATGATAGTTAGGATGTGTGCACAC -3'
(R):5'- CTTTGTGGGAAAGCGGCTAG -3'

Sequencing Primer
(F):5'- CTTCATGCATGCTAGGCAAG -3'
(R):5'- AGCTATGTCTATGGAAGGGTATGACC -3'
Posted On 2017-02-28