Incidental Mutation 'R0346:Kif13a'
ID 34292
Institutional Source Beutler Lab
Gene Symbol Kif13a
Ensembl Gene ENSMUSG00000021375
Gene Name kinesin family member 13A
Synonyms 4930505I07Rik, N-3 kinesin
MMRRC Submission 038553-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R0346 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 46902563-47083343 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46967695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 403 (I403L)
Ref Sequence ENSEMBL: ENSMUSP00000055304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056978] [ENSMUST00000225591]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000056978
AA Change: I403L

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: I403L

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 possibly damaging
Transcript: ENSMUST00000225591
AA Change: I340L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Meta Mutation Damage Score 0.0861 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.4%
Validation Efficiency 100% (79/79)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,516,278 (GRCm39) I4406L probably damaging Het
Abca16 T A 7: 120,035,155 (GRCm39) C314S probably damaging Het
Add3 C T 19: 53,205,387 (GRCm39) R46* probably null Het
Alas1 A T 9: 106,120,550 (GRCm39) S82T possibly damaging Het
Alkbh5 C G 11: 60,429,567 (GRCm39) R107G possibly damaging Het
Ap3b1 A T 13: 94,582,479 (GRCm39) R365* probably null Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
AU021092 T C 16: 5,034,718 (GRCm39) D168G possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Caln1 C A 5: 130,851,762 (GRCm39) H184N possibly damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Ccdc191 T C 16: 43,759,315 (GRCm39) V372A probably damaging Het
Ccng2 T G 5: 93,418,753 (GRCm39) I126S probably damaging Het
Cep85 A T 4: 133,859,733 (GRCm39) N643K probably damaging Het
Clvs2 G C 10: 33,498,542 (GRCm39) S129R possibly damaging Het
Cntn1 G T 15: 92,129,968 (GRCm39) probably benign Het
Cttn A T 7: 144,006,276 (GRCm39) probably benign Het
Dedd2 T C 7: 24,910,694 (GRCm39) S161G possibly damaging Het
Dnajb13 T C 7: 100,153,132 (GRCm39) D263G probably damaging Het
Dppa4 T A 16: 48,109,687 (GRCm39) probably benign Het
Ear2 A G 14: 44,340,363 (GRCm39) E7G probably damaging Het
Eif2b4 A G 5: 31,345,452 (GRCm39) probably benign Het
Etl4 G T 2: 20,764,463 (GRCm39) probably null Het
Fbxo15 T A 18: 84,978,346 (GRCm39) probably null Het
Gm9970 A G 5: 31,398,182 (GRCm39) probably benign Het
Hap1 A G 11: 100,246,855 (GRCm39) S17P probably benign Het
Hgd C T 16: 37,409,136 (GRCm39) probably benign Het
Ift56 T C 6: 38,386,370 (GRCm39) C364R probably damaging Het
Inpp5f T A 7: 128,292,392 (GRCm39) L16Q probably damaging Het
Irag1 T C 7: 110,498,183 (GRCm39) D404G probably damaging Het
Islr2 G A 9: 58,105,626 (GRCm39) R545* probably null Het
Itgav G T 2: 83,622,953 (GRCm39) C675F probably damaging Het
Kif14 T A 1: 136,395,898 (GRCm39) I68N probably damaging Het
Kif26a G T 12: 112,145,782 (GRCm39) K1764N probably null Het
Lrrd1 C A 5: 3,900,215 (GRCm39) F173L probably benign Het
Mroh4 G C 15: 74,486,141 (GRCm39) probably benign Het
Msh5 A G 17: 35,248,864 (GRCm39) V723A probably benign Het
Mybph T G 1: 134,125,492 (GRCm39) I279S probably damaging Het
Myh4 A T 11: 67,151,152 (GRCm39) I1936L probably benign Het
Myo1h A T 5: 114,493,270 (GRCm39) T704S probably benign Het
Nav2 C A 7: 49,254,333 (GRCm39) T2377K probably benign Het
Nipbl T G 15: 8,390,440 (GRCm39) Q276H probably damaging Het
Nlrp9b T C 7: 19,758,440 (GRCm39) L559P probably damaging Het
Nup210l T A 3: 90,096,745 (GRCm39) V1318E probably damaging Het
Or1e26 A G 11: 73,480,283 (GRCm39) Y94H probably damaging Het
Or4z4 A T 19: 12,076,803 (GRCm39) S67T probably damaging Het
Or6c8b C A 10: 128,882,342 (GRCm39) V197F possibly damaging Het
Or7e178 A G 9: 20,225,707 (GRCm39) S170P probably benign Het
P2ry13 T C 3: 59,116,987 (GRCm39) T264A possibly damaging Het
Plekhg5 T C 4: 152,198,710 (GRCm39) L966P probably benign Het
Prss35 A G 9: 86,637,404 (GRCm39) K58R probably benign Het
Ptafr T A 4: 132,307,390 (GRCm39) L260* probably null Het
Pum1 A T 4: 130,507,116 (GRCm39) T1157S possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf145 A G 11: 44,445,991 (GRCm39) Y275C probably damaging Het
Rpl6 A T 5: 121,346,554 (GRCm39) K218N possibly damaging Het
Rps6 T C 4: 86,774,218 (GRCm39) T128A probably benign Het
Ryr1 G T 7: 28,767,013 (GRCm39) probably benign Het
Scel A T 14: 103,767,420 (GRCm39) Q26H probably damaging Het
Sfxn4 A T 19: 60,847,111 (GRCm39) D57E probably benign Het
Slc35d1 A C 4: 103,048,044 (GRCm39) L240R probably damaging Het
Smcr8 A G 11: 60,670,576 (GRCm39) I575V probably benign Het
Spata31e4 T C 13: 50,857,346 (GRCm39) Y995H probably benign Het
Syk G A 13: 52,794,695 (GRCm39) M476I probably damaging Het
Tbcel A T 9: 42,348,539 (GRCm39) probably benign Het
Tob2 C A 15: 81,742,424 (GRCm39) G65W probably damaging Het
Trim16 A G 11: 62,731,520 (GRCm39) N464D probably benign Het
Trim36 T C 18: 46,332,776 (GRCm39) probably benign Het
Trpv4 C A 5: 114,768,590 (GRCm39) probably benign Het
Tsga10 T A 1: 37,879,600 (GRCm39) T64S possibly damaging Het
Vars2 A T 17: 35,975,756 (GRCm39) probably benign Het
Vmn1r72 C A 7: 11,403,621 (GRCm39) V276L probably benign Het
Vps13a T A 19: 16,655,333 (GRCm39) K1898N probably benign Het
Vps18 A G 2: 119,127,645 (GRCm39) M823V probably damaging Het
Washc2 T C 6: 116,197,484 (GRCm39) probably benign Het
Zfp763 A T 17: 33,238,721 (GRCm39) H141Q probably benign 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
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
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'- GGACATCACACAGGACTGCTCAAAG -3'
(R):5'- TGTTCAACCTCCAGTACCACAGGC -3'

Sequencing Primer
(F):5'- tcacaacagtagcaacaaaaaaatg -3'
(R):5'- GCAAGGATGCCATTATATATGTCCTG -3'
Posted On 2013-05-09