Incidental Mutation 'R1960:Kif13a'
ID 318065
Institutional Source Beutler Lab
Gene Symbol Kif13a
Ensembl Gene ENSMUSG00000021375
Gene Name kinesin family member 13A
Synonyms 4930505I07Rik, N-3 kinesin
MMRRC Submission 039974-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R1960 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 46902563-47083343 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 47018314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056978] [ENSMUST00000225591]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000056978
SMART Domains Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375

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 noncoding transcript
Transcript: ENSMUST00000224457
Predicted Effect probably benign
Transcript: ENSMUST00000225591
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (95/95)
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
2410004B18Rik C T 3: 145,643,976 (GRCm39) P55S probably damaging Het
Adgre4 T C 17: 56,098,497 (GRCm39) S136P probably benign Het
Aoc1l1 C T 6: 48,952,687 (GRCm39) T204I probably damaging Het
Arap1 C A 7: 101,022,222 (GRCm39) A8E probably damaging Het
Arid1a A T 4: 133,480,401 (GRCm39) H174Q possibly damaging Het
Btbd2 A G 10: 80,480,539 (GRCm39) I358T probably benign Het
Camkk2 G A 5: 122,875,575 (GRCm39) R492* probably null Het
Capn3 T C 2: 120,294,421 (GRCm39) V23A probably benign Het
Carm1 T G 9: 21,491,606 (GRCm39) V225G probably benign Het
Ccdc113 T A 8: 96,267,459 (GRCm39) N141K probably benign Het
Ccdc60 C A 5: 116,284,243 (GRCm39) M298I probably benign Het
Celsr3 C T 9: 108,723,016 (GRCm39) P2801L probably benign Het
Clec4n T A 6: 123,207,505 (GRCm39) V23E probably damaging Het
Cmtr2 T G 8: 110,948,382 (GRCm39) L231V probably damaging Het
Csrnp3 T G 2: 65,853,363 (GRCm39) V585G probably null Het
Ctnnd2 T C 15: 30,647,257 (GRCm39) S318P probably damaging Het
Cubn A T 2: 13,344,828 (GRCm39) probably null Het
Dgkd C A 1: 87,857,549 (GRCm39) P754T possibly damaging Het
Dnah7a A G 1: 53,724,142 (GRCm39) S108P probably benign Het
Dnajc24 A G 2: 105,832,268 (GRCm39) probably benign Het
Dner A T 1: 84,423,177 (GRCm39) S475R probably damaging Het
Dtnb T C 12: 3,831,190 (GRCm39) L630P probably benign Het
Dysf T C 6: 84,050,885 (GRCm39) F411L probably benign Het
Fbh1 G A 2: 11,762,339 (GRCm39) A566V probably damaging Het
Fbxw19 G T 9: 109,315,004 (GRCm39) T186K probably benign Het
Flacc1 A T 1: 58,698,437 (GRCm39) V327D possibly damaging Het
Gm4825 A G 15: 85,395,245 (GRCm39) noncoding transcript Het
Grhl2 T A 15: 37,336,558 (GRCm39) V54D probably damaging Het
Hmcn1 T C 1: 150,551,742 (GRCm39) I2621V probably benign Het
Hmcn1 T A 1: 150,553,127 (GRCm39) E2521V possibly damaging Het
Kcng1 A G 2: 168,104,904 (GRCm39) V314A probably benign Het
Kif21a G A 15: 90,855,051 (GRCm39) A703V probably damaging Het
Kifc1 A G 17: 34,103,561 (GRCm39) probably null Het
Klk13 T A 7: 43,370,431 (GRCm39) N31K possibly damaging Het
Klri1 T A 6: 129,674,347 (GRCm39) H221L probably benign Het
Ltbp4 G A 7: 27,028,443 (GRCm39) P273L unknown Het
Med16 T C 10: 79,742,929 (GRCm39) H14R possibly damaging Het
Mpeg1 G A 19: 12,440,275 (GRCm39) V578M probably damaging Het
Mrgpra2a T A 7: 47,076,983 (GRCm39) I92F probably benign Het
Muc5b T C 7: 141,416,374 (GRCm39) C3107R possibly damaging Het
Myo5a T A 9: 75,055,139 (GRCm39) F441I probably damaging Het
Ndst4 T A 3: 125,232,331 (GRCm39) L300* probably null Het
Nlgn2 G T 11: 69,718,136 (GRCm39) D356E probably damaging Het
Nlrp2 T C 7: 5,330,737 (GRCm39) E553G probably damaging Het
Oas1f G A 5: 120,994,502 (GRCm39) C341Y possibly damaging Het
Olfm5 A T 7: 103,809,619 (GRCm39) C111S possibly damaging Het
Oplah G A 15: 76,181,664 (GRCm39) T1119I probably damaging Het
Or2ag15 T C 7: 106,340,601 (GRCm39) E180G probably damaging Het
Or5d46 T C 2: 88,170,545 (GRCm39) L212P probably damaging Het
Or6c74 C T 10: 129,870,187 (GRCm39) Q231* probably null Het
Or6f2 A T 7: 139,756,596 (GRCm39) I188L probably benign Het
Or8b12c A G 9: 37,715,242 (GRCm39) I12V probably benign Het
Or8g51 T A 9: 38,609,500 (GRCm39) H58L probably benign Het
Pde10a T C 17: 9,161,750 (GRCm39) I477T possibly damaging Het
Pde4b A G 4: 102,454,657 (GRCm39) E108G probably damaging Het
Pdgfrb A T 18: 61,198,855 (GRCm39) T338S probably benign Het
Pgghg A G 7: 140,523,260 (GRCm39) M180V probably benign Het
Phactr4 G A 4: 132,104,559 (GRCm39) T256I probably benign Het
Pot1b A T 17: 55,969,531 (GRCm39) Y546N probably damaging Het
Rangap1 T C 15: 81,590,704 (GRCm39) T463A probably benign Het
Rap1gds1 T C 3: 138,756,317 (GRCm39) I13V probably null Het
Rbak A T 5: 143,160,437 (GRCm39) Y205* probably null Het
Reg3b A T 6: 78,348,797 (GRCm39) K31M probably damaging Het
Rfpl4 A T 7: 5,118,533 (GRCm39) Y12* probably null Het
Rnase6 A G 14: 51,367,889 (GRCm39) N94D possibly damaging Het
Rtn4 T C 11: 29,686,464 (GRCm39) L273P probably damaging Het
Ryr3 A C 2: 112,624,812 (GRCm39) F2203V probably damaging Het
Sae1 A T 7: 16,102,490 (GRCm39) D161E possibly damaging Het
Sema5a T C 15: 32,562,877 (GRCm39) F296S possibly damaging Het
Sh3rf1 C A 8: 61,837,897 (GRCm39) P814Q probably damaging Het
Slc22a29 C A 19: 8,146,557 (GRCm39) R415M probably benign Het
Slc25a25 C T 2: 32,310,663 (GRCm39) probably null Het
Slco4c1 T A 1: 96,795,654 (GRCm39) M135L probably benign Het
Slfn1 A G 11: 83,012,579 (GRCm39) I232V possibly damaging Het
Slitrk1 T A 14: 109,149,622 (GRCm39) N363I probably damaging Het
Srr A G 11: 74,799,542 (GRCm39) V311A probably damaging Het
Tasor T C 14: 27,160,621 (GRCm39) S128P probably damaging Het
Tasor C T 14: 27,201,746 (GRCm39) H1419Y possibly damaging Het
Tenm1 T C X: 41,916,078 (GRCm39) D402G probably benign Het
Topors T C 4: 40,261,044 (GRCm39) R747G unknown Het
Trank1 A T 9: 111,220,696 (GRCm39) I2478F probably damaging Het
Trim69 A G 2: 121,998,165 (GRCm39) N46D probably benign Het
Trpm1 T A 7: 63,879,978 (GRCm39) L661Q probably damaging Het
Ttbk1 A C 17: 46,791,150 (GRCm39) F45V probably damaging Het
Ttn T C 2: 76,644,649 (GRCm39) K4708R probably damaging Het
Unkl A G 17: 25,428,619 (GRCm39) probably benign Het
Uros A T 7: 133,288,735 (GRCm39) N257K probably benign Het
Usp25 A G 16: 76,873,259 (GRCm39) Y439C probably damaging Het
Vgf A G 5: 137,061,029 (GRCm39) probably benign Het
Vmn2r8 A T 5: 108,947,152 (GRCm39) D533E probably damaging Het
Vps13a A T 19: 16,702,995 (GRCm39) Y653N probably damaging Het
Zfp358 T C 8: 3,545,742 (GRCm39) V135A 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
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'- TTGCCAACAGAGGGTAAGTAAC -3'
(R):5'- GTGCATGTCTACATCGAGAGG -3'

Sequencing Primer
(F):5'- GAGGGTAAGTAACATGCTGATCTTCC -3'
(R):5'- GCATGTCTACATCGAGAGGTTTATC -3'
Posted On 2015-05-19