Incidental Mutation 'R8098:Kif13a'
ID 630346
Institutional Source Beutler Lab
Gene Symbol Kif13a
Ensembl Gene ENSMUSG00000021375
Gene Name kinesin family member 13A
Synonyms 4930505I07Rik, N-3 kinesin
MMRRC Submission 067530-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R8098 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 46902563-47083343 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46968780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 354 (N354S)
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: N354S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: N354S

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: N291S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,384,618 (GRCm39) L449P probably damaging Het
Abca15 A G 7: 119,960,619 (GRCm39) S694G probably benign Het
Abcc6 A G 7: 45,646,089 (GRCm39) L800P probably damaging Het
Adam15 T A 3: 89,251,193 (GRCm39) D504V probably damaging Het
Adnp T C 2: 168,024,452 (GRCm39) T948A probably benign Het
Akap11 T C 14: 78,750,362 (GRCm39) D675G Het
Atp13a3 A C 16: 30,173,115 (GRCm39) V254G possibly damaging Het
Atp1a1 A G 3: 101,489,365 (GRCm39) I749T probably damaging Het
B3glct T A 5: 149,673,965 (GRCm39) Y369* probably null Het
Bms1 C T 6: 118,361,219 (GRCm39) R1204H probably damaging Het
Btla T A 16: 45,064,612 (GRCm39) L188* probably null Het
Btn2a2 A G 13: 23,666,058 (GRCm39) V258A probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cacna1g T C 11: 94,307,338 (GRCm39) H1782R probably benign Het
Calcoco1 T C 15: 102,624,759 (GRCm39) D172G probably benign Het
Ccdc192 A T 18: 57,800,403 (GRCm39) I185L probably benign Het
Ciart G A 3: 95,788,656 (GRCm39) P61L probably damaging Het
Ckap4 A G 10: 84,369,499 (GRCm39) S78P probably damaging Het
Col6a3 A T 1: 90,731,383 (GRCm39) D1623E probably benign Het
Col7a1 A G 9: 108,785,763 (GRCm39) T411A unknown Het
Cpt1a A C 19: 3,420,849 (GRCm39) I436L probably benign Het
Cyp2c23 T A 19: 44,004,242 (GRCm39) I173F probably benign Het
Dcun1d2 T C 8: 13,311,396 (GRCm39) T198A probably benign Het
Ddx50 A C 10: 62,460,922 (GRCm39) probably null Het
Depdc1b A G 13: 108,460,593 (GRCm39) T68A probably damaging Het
Dgkq G A 5: 108,800,334 (GRCm39) R546W probably damaging Het
Dmbt1 G A 7: 130,710,188 (GRCm39) W1493* probably null Het
Dnah17 A G 11: 117,941,193 (GRCm39) S3219P probably damaging Het
Egf T A 3: 129,484,486 (GRCm39) Y986F probably benign Het
Ell3 TCTCCTC TCTC 2: 121,269,937 (GRCm39) probably benign Het
Ep400 A T 5: 110,841,117 (GRCm39) M1805K unknown Het
Exoc3 A G 13: 74,320,271 (GRCm39) M730T probably benign Het
Fbxl13 T A 5: 21,825,716 (GRCm39) M129L probably benign Het
Fem1al A G 11: 29,774,450 (GRCm39) S336P possibly damaging Het
Gins4 T A 8: 23,727,037 (GRCm39) M19L probably benign Het
Gm3238 T C 10: 77,606,474 (GRCm39) N229S unknown Het
Gpd2 T A 2: 57,180,020 (GRCm39) V89D possibly damaging Het
Hectd4 G A 5: 121,459,461 (GRCm39) V777I possibly damaging Het
Hgf T A 5: 16,766,059 (GRCm39) V65E probably benign Het
Hnrnpdl A G 5: 100,185,779 (GRCm39) S169P probably benign Het
Igfbp3 T C 11: 7,160,104 (GRCm39) D183G possibly damaging Het
Il16 A G 7: 83,295,767 (GRCm39) V1134A probably damaging Het
Kcnn4 A G 7: 24,083,504 (GRCm39) D395G probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lrp1 C T 10: 127,410,324 (GRCm39) R1474Q possibly damaging Het
Map3k9 T C 12: 81,780,888 (GRCm39) Q424R probably damaging Het
Mkx A C 18: 6,992,784 (GRCm39) S167A possibly damaging Het
Ms4a14 A G 19: 11,281,979 (GRCm39) F193S possibly damaging Het
Myo18a A T 11: 77,736,227 (GRCm39) D1508V probably damaging Het
Nek4 T A 14: 30,685,908 (GRCm39) N273K probably benign Het
Nipal3 A T 4: 135,179,709 (GRCm39) V403D possibly damaging Het
Nlrp6 G A 7: 140,503,168 (GRCm39) V425M probably damaging Het
Or13p4 A T 4: 118,547,406 (GRCm39) V81E possibly damaging Het
Or14j6 A G 17: 38,215,250 (GRCm39) D271G probably damaging Het
Or4c122 T A 2: 89,079,652 (GRCm39) M117L possibly damaging Het
Or9k2 T C 10: 129,998,916 (GRCm39) K93R probably benign Het
Otub1 A T 19: 7,181,794 (GRCm39) D27E probably damaging Het
Pcnx2 T C 8: 126,495,040 (GRCm39) D1607G probably damaging Het
Pde2a A G 7: 101,071,178 (GRCm39) Y16C probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Prph2 A T 17: 47,230,892 (GRCm39) M262L probably benign Het
Pxdn C T 12: 30,056,601 (GRCm39) L1271F probably damaging Het
Rnf10 A C 5: 115,389,438 (GRCm39) I243S probably damaging Het
Samd9l T C 6: 3,375,549 (GRCm39) I571V probably damaging Het
Scube1 C T 15: 83,543,289 (GRCm39) G183D probably damaging Het
Sidt2 A G 9: 45,857,028 (GRCm39) V426A probably benign Het
Slc20a1 T C 2: 129,051,041 (GRCm39) L566P probably damaging Het
Slc22a3 A G 17: 12,642,619 (GRCm39) probably null Het
Snx11 G T 11: 96,661,500 (GRCm39) S168R probably benign Het
Snx5 T C 2: 144,097,482 (GRCm39) N218D probably benign Het
Snx7 A T 3: 117,632,583 (GRCm39) D169E probably benign Het
Soat1 A G 1: 156,274,180 (GRCm39) L77P probably damaging Het
Sucnr1 T A 3: 59,994,162 (GRCm39) V230E probably damaging Het
Supv3l1 T C 10: 62,265,282 (GRCm39) K753E probably benign Het
Tango6 T G 8: 107,468,990 (GRCm39) L829V possibly damaging Het
Tek T C 4: 94,715,907 (GRCm39) V443A probably benign Het
Tet1 A T 10: 62,714,859 (GRCm39) L312Q probably damaging Het
Tgm1 A T 14: 55,947,991 (GRCm39) N269K probably damaging Het
Thrb A T 14: 18,008,645 (GRCm38) D168V probably damaging Het
Tk2 C T 8: 104,957,804 (GRCm39) V181I probably benign Het
Tm6sf2 T C 8: 70,526,972 (GRCm39) L47P probably damaging Het
Tmcc3 T A 10: 94,415,078 (GRCm39) M291K probably benign Het
Tnfrsf21 A G 17: 43,350,790 (GRCm39) E318G probably benign Het
Ttc7 T C 17: 87,641,756 (GRCm39) V451A probably benign Het
Ugt2b36 A T 5: 87,240,252 (GRCm39) D44E probably benign Het
Usp17la G T 7: 104,510,138 (GRCm39) V248L probably damaging Het
Utp20 A C 10: 88,588,810 (GRCm39) I2453S probably benign Het
Wdr91 A T 6: 34,863,817 (GRCm39) I566N possibly damaging Het
Zfp282 A G 6: 47,867,652 (GRCm39) D276G probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp866 T C 8: 70,218,628 (GRCm39) K331E probably benign Het
Zkscan17 A T 11: 59,394,410 (GRCm39) W64R possibly 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
R5921:Kif13a UTSW 13 46,978,776 (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
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'- AATCACATGGCTAGGACCCAG -3'
(R):5'- AGTCAAATGTGGCTATTTCCTGC -3'

Sequencing Primer
(F):5'- CTAGGACCCAGGGCCGC -3'
(R):5'- CCTGCTTTTATTGGGTGCTGAC -3'
Posted On 2020-06-30