Incidental Mutation 'R1755:Kif13a'
ID 194796
Institutional Source Beutler Lab
Gene Symbol Kif13a
Ensembl Gene ENSMUSG00000021375
Gene Name kinesin family member 13A
Synonyms 4930505I07Rik, N-3 kinesin
MMRRC Submission 039787-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R1755 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 46902563-47083343 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46927154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1179 (V1179E)
Ref Sequence ENSEMBL: ENSMUSP00000055304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056978] [ENSMUST00000223881]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000056978
AA Change: V1179E

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: V1179E

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 benign
Transcript: ENSMUST00000223881
AA Change: V196E

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik G A 8: 88,315,585 (GRCm39) R225H possibly damaging Het
9330159F19Rik A T 10: 29,098,290 (GRCm39) H199L possibly damaging Het
Acaca AC A 11: 84,167,390 (GRCm39) probably null Het
Adam23 G A 1: 63,582,329 (GRCm39) V326M probably damaging Het
Aldh1a2 T A 9: 71,169,023 (GRCm39) Y168* probably null Het
Ano6 A G 15: 95,870,451 (GRCm39) K869E possibly damaging Het
Aplp2 G A 9: 31,088,400 (GRCm39) A106V probably damaging Het
Arhgdib T A 6: 136,906,612 (GRCm39) K30* probably null Het
Arl11 A G 14: 61,548,393 (GRCm39) T68A probably benign Het
Atg7 A G 6: 114,650,638 (GRCm39) T83A possibly damaging Het
Card9 T C 2: 26,249,546 (GRCm39) E5G probably damaging Het
Cars1 A G 7: 143,123,194 (GRCm39) V474A probably damaging Het
Cd300ld2 A G 11: 114,904,601 (GRCm39) F89L probably benign Het
Celf2 T A 2: 6,889,769 (GRCm39) M1L probably benign Het
Cnot1 T C 8: 96,451,205 (GRCm39) D2174G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cox6b2 A G 7: 4,754,937 (GRCm39) F74S probably damaging Het
Cyp11b1 T A 15: 74,710,383 (GRCm39) Q306L probably benign Het
Ddx3y A G Y: 1,279,543 (GRCm39) I107T probably benign Het
Dnah5 A T 15: 28,326,782 (GRCm39) Y1997F probably damaging Het
Dync2i1 A G 12: 116,189,649 (GRCm39) L620P probably damaging Het
Epha4 A T 1: 77,364,460 (GRCm39) I683N probably damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Gmip A G 8: 70,266,774 (GRCm39) I296M probably damaging Het
Gpr37l1 A G 1: 135,094,639 (GRCm39) S202P probably damaging Het
Ifi208 C A 1: 173,505,476 (GRCm39) D75E possibly damaging Het
Il24 T C 1: 130,811,680 (GRCm39) N132S possibly damaging Het
Katnal2 A G 18: 77,099,763 (GRCm39) C124R probably benign Het
Kcnq3 A T 15: 65,867,270 (GRCm39) L791Q probably damaging Het
Kcns3 T A 12: 11,141,445 (GRCm39) D418V probably benign Het
Lpp A G 16: 24,663,874 (GRCm39) I259V probably benign Het
Mapkapk2 A G 1: 130,986,087 (GRCm39) probably null Het
Marchf7 T C 2: 60,065,265 (GRCm39) S514P probably benign Het
Nr4a2 T A 2: 56,999,104 (GRCm39) L381F probably damaging Het
Nt5dc3 A G 10: 86,660,115 (GRCm39) D328G probably damaging Het
Obox6 T C 7: 15,568,445 (GRCm39) K144E probably damaging Het
Oga A T 19: 45,746,845 (GRCm39) M735K possibly damaging Het
Olfml2b G A 1: 170,509,346 (GRCm39) V565M probably damaging Het
Or1d2 T C 11: 74,255,819 (GRCm39) V108A probably damaging Het
Orc3 G A 4: 34,575,114 (GRCm39) A590V possibly damaging Het
Picalm T C 7: 89,809,757 (GRCm39) S78P possibly damaging Het
Por T A 5: 135,758,339 (GRCm39) Y105* probably null Het
Ppara A G 15: 85,682,180 (GRCm39) K292R probably benign Het
Pramel27 T C 4: 143,577,380 (GRCm39) F3S probably damaging Het
Prss59 T G 6: 40,903,096 (GRCm39) Y92S probably damaging Het
Ralgds T A 2: 28,440,558 (GRCm39) I844N probably damaging Het
Rttn T C 18: 89,027,441 (GRCm39) Y519H probably damaging Het
Scn9a A G 2: 66,332,060 (GRCm39) V1261A probably benign Het
Slc2a2 T A 3: 28,767,811 (GRCm39) probably null Het
Slc5a7 T C 17: 54,600,006 (GRCm39) M136V probably benign Het
Smc4 C A 3: 68,941,441 (GRCm39) A1232E probably damaging Het
Smg1 A T 7: 117,802,287 (GRCm39) C270* probably null Het
Sparcl1 C T 5: 104,240,690 (GRCm39) E245K probably benign Het
Taf2 T C 15: 54,879,850 (GRCm39) H1162R probably damaging Het
Tlr3 T C 8: 45,851,010 (GRCm39) D105G probably benign Het
Tmem62 T C 2: 120,814,958 (GRCm39) probably null Het
Triobp G A 15: 78,850,679 (GRCm39) A278T probably benign Het
Ufd1 T G 16: 18,642,003 (GRCm39) C151W probably damaging Het
Upk1b T G 16: 38,600,402 (GRCm39) M193L probably benign Het
Usp15 A G 10: 122,968,949 (GRCm39) M334T probably damaging Het
Utp20 A G 10: 88,645,631 (GRCm39) S541P probably benign Het
Vmn1r61 A T 7: 5,614,302 (GRCm39) L4* probably null Het
Vmn2r96 G A 17: 18,802,915 (GRCm39) G83D possibly damaging Het
Zbtb8a T C 4: 129,248,110 (GRCm39) D387G possibly damaging Het
Zfp106 A T 2: 120,365,656 (GRCm39) N250K probably damaging Het
Zfp292 A G 4: 34,811,043 (GRCm39) V667A 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
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 46,906,089 (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'- GCTGACCACAGCCGTTTATCAGG -3'
(R):5'- ACACATGGGAGATGCTCTATCTTAGAGG -3'

Sequencing Primer
(F):5'- TATCAGGCTGGTGGGGC -3'
(R):5'- ctcagtgatggagtgtctttaac -3'
Posted On 2014-05-23