Incidental Mutation 'R0403:Kif13a'
ID 35731
Institutional Source Beutler Lab
Gene Symbol Kif13a
Ensembl Gene ENSMUSG00000021375
Gene Name kinesin family member 13A
Synonyms 4930505I07Rik, N-3 kinesin
MMRRC Submission 038608-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R0403 (G1)
Quality Score 204
Status Validated
Chromosome 13
Chromosomal Location 46902563-47083343 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46944877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 908 (V908A)
Ref Sequence ENSEMBL: ENSMUSP00000055304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056978] [ENSMUST00000223881] [ENSMUST00000225591]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000056978
AA Change: V908A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: V908A

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: ENSMUST00000223856
Predicted Effect probably benign
Transcript: ENSMUST00000223881
Predicted Effect probably benign
Transcript: ENSMUST00000224756
AA Change: V16A

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably damaging
Transcript: ENSMUST00000225591
AA Change: V845A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225904
Meta Mutation Damage Score 0.2033 question?
Coding Region Coverage
  • 1x: 98.0%
  • 3x: 96.8%
  • 10x: 93.2%
  • 20x: 83.7%
Validation Efficiency 97% (110/113)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,864,706 (GRCm39) probably null Het
Adgrg3 C T 8: 95,763,550 (GRCm39) L284F probably benign Het
Alkbh8 T A 9: 3,385,469 (GRCm39) V587E probably damaging Het
Ap4b1 T A 3: 103,728,712 (GRCm39) M590K probably benign Het
Ap4b1 T A 3: 103,726,155 (GRCm39) C244S probably damaging Het
Arhgap15 C T 2: 43,953,778 (GRCm39) T168I probably damaging Het
Atp8b1 A G 18: 64,673,381 (GRCm39) V997A probably damaging Het
Atrn G A 2: 130,748,779 (GRCm39) C100Y probably damaging Het
Baiap2l2 C A 15: 79,155,416 (GRCm39) A151S probably benign Het
Baz2b A T 2: 59,799,721 (GRCm39) D199E possibly damaging Het
Bmal2 T A 6: 146,724,153 (GRCm39) H348Q probably damaging Het
Cblb A G 16: 51,972,989 (GRCm39) D440G probably benign Het
Cdon T C 9: 35,384,796 (GRCm39) V694A probably benign Het
Cep250 A T 2: 155,834,269 (GRCm39) R2065W probably damaging Het
Ces2b G T 8: 105,560,577 (GRCm39) A131S probably damaging Het
Chrna9 A T 5: 66,125,235 (GRCm39) T59S possibly damaging Het
Cog3 T A 14: 75,979,767 (GRCm39) probably benign Het
Cpa1 G A 6: 30,641,856 (GRCm39) V227I probably benign Het
Cyp3a25 A T 5: 145,935,323 (GRCm39) C98S probably damaging Het
D8Ertd738e C T 8: 84,976,230 (GRCm39) probably null Het
Ddx60 A G 8: 62,447,575 (GRCm39) probably benign Het
Dhx16 T C 17: 36,193,942 (GRCm39) probably null Het
Dnah9 T A 11: 65,975,615 (GRCm39) Q1478L possibly damaging Het
Dock10 T C 1: 80,501,787 (GRCm39) Y1434C possibly damaging Het
Enpp3 T A 10: 24,680,334 (GRCm39) D325V probably damaging Het
Entpd6 C A 2: 150,602,090 (GRCm39) T194K possibly damaging Het
Fat2 A T 11: 55,161,175 (GRCm39) V3185E probably benign Het
Flrt1 A G 19: 7,073,284 (GRCm39) L421P probably benign Het
Fmn2 A T 1: 174,521,844 (GRCm39) Q1292L probably damaging Het
Fndc1 T C 17: 7,972,555 (GRCm39) D1459G probably damaging Het
Fndc1 T C 17: 7,994,420 (GRCm39) probably null Het
Fzr1 A G 10: 81,205,202 (GRCm39) S265P possibly damaging Het
Gpr142 G A 11: 114,696,855 (GRCm39) V134M probably damaging Het
Grid2ip G T 5: 143,343,375 (GRCm39) V24L possibly damaging Het
Herc2 G A 7: 55,809,165 (GRCm39) R2555H probably damaging Het
Hpdl A T 4: 116,677,676 (GRCm39) Y262N possibly damaging Het
Htr3a A G 9: 48,819,959 (GRCm39) V57A probably damaging Het
Igfbp7 T C 5: 77,503,438 (GRCm39) I186V probably benign Het
Itga2b C T 11: 102,358,152 (GRCm39) probably null Het
Itgae A C 11: 73,014,009 (GRCm39) D736A possibly damaging Het
Itpkc T A 7: 26,907,770 (GRCm39) M645L probably benign Het
Jchain T C 5: 88,669,237 (GRCm39) R139G probably benign Het
Kif1b T A 4: 149,266,424 (GRCm39) K389* probably null Het
Klhl12 T C 1: 134,413,594 (GRCm39) Y360H possibly damaging Het
Knop1 G A 7: 118,452,276 (GRCm39) R148W probably damaging Het
Lpar1 T A 4: 58,487,191 (GRCm39) N27Y probably damaging Het
Lpar2 T A 8: 70,276,802 (GRCm39) V197D probably damaging Het
Lrrc74a A G 12: 86,787,753 (GRCm39) N128S probably damaging Het
Lum G T 10: 97,407,905 (GRCm39) V337F probably benign Het
Mag T C 7: 30,606,405 (GRCm39) D344G probably damaging Het
Maip1 G A 1: 57,446,355 (GRCm39) A142T probably benign Het
Mlh3 A G 12: 85,315,742 (GRCm39) V148A possibly damaging Het
Nav3 A G 10: 109,602,964 (GRCm39) V1195A probably damaging Het
Ncor2 A G 5: 125,110,401 (GRCm39) S868P possibly damaging Het
Nek1 A G 8: 61,559,889 (GRCm39) E907G probably damaging Het
Nfam1 G A 15: 82,900,580 (GRCm39) T134I probably benign Het
Nr0b2 T C 4: 133,281,070 (GRCm39) V112A probably damaging Het
Nrp1 A G 8: 129,184,450 (GRCm39) N365S probably damaging Het
Nrsn2 T C 2: 152,211,710 (GRCm39) Y107C probably damaging Het
Ntng1 G A 3: 109,841,927 (GRCm39) A282V probably damaging Het
Nxf1 T C 19: 8,742,392 (GRCm39) I337T probably damaging Het
Obscn C T 11: 58,967,366 (GRCm39) G479D probably damaging Het
Oprd1 T A 4: 131,841,079 (GRCm39) D293V probably benign Het
Or13a17 T C 7: 140,271,222 (GRCm39) S135P possibly damaging Het
P3h2 T G 16: 25,788,700 (GRCm39) N586H possibly damaging Het
Pcid2 T C 8: 13,135,367 (GRCm39) Y214C probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pkd1l3 G A 8: 110,350,295 (GRCm39) S380N probably benign Het
Ppic C A 18: 53,544,143 (GRCm39) G81W probably damaging Het
Ppp2r1a C A 17: 21,177,303 (GRCm39) P246T probably damaging Het
Ppp4r4 T G 12: 103,550,361 (GRCm39) S46A probably benign Het
Pramel31 A G 4: 144,089,216 (GRCm39) N178S probably benign Het
Prkce A G 17: 86,476,081 (GRCm39) T21A probably damaging Het
Prkg2 T C 5: 99,142,504 (GRCm39) E210G possibly damaging Het
Prss35 A G 9: 86,638,090 (GRCm39) M287V probably damaging Het
Psd G A 19: 46,309,411 (GRCm39) probably benign Het
Ptch2 A T 4: 116,968,036 (GRCm39) K843* probably null Het
Rab44 C A 17: 29,364,235 (GRCm39) T603K probably damaging Het
Rasal3 T A 17: 32,611,764 (GRCm39) probably null Het
Rbbp6 A G 7: 122,591,519 (GRCm39) T526A probably damaging Het
Ros1 A T 10: 52,019,534 (GRCm39) probably benign Het
Sec24b T A 3: 129,783,325 (GRCm39) L1104F possibly damaging Het
Sec24b A G 3: 129,793,183 (GRCm39) S685P probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Setmar A T 6: 108,052,923 (GRCm39) H139L probably benign Het
Slc28a2b T C 2: 122,352,335 (GRCm39) L364S probably damaging Het
Slc4a7 T C 14: 14,766,808 (GRCm38) V710A probably benign Het
Smarcc1 T A 9: 110,066,876 (GRCm39) probably null Het
Smchd1 G A 17: 71,701,897 (GRCm39) L1032F probably damaging Het
Speg T C 1: 75,407,428 (GRCm39) probably benign Het
Tasor2 A T 13: 3,632,052 (GRCm39) Y816* probably null Het
Tcea1 C G 1: 4,959,726 (GRCm39) R134G probably benign Het
Tchhl1 C T 3: 93,378,336 (GRCm39) Q347* probably null Het
Tecrl A T 5: 83,502,605 (GRCm39) probably benign Het
Tepsin T C 11: 119,984,508 (GRCm39) probably benign Het
Tmem40 G A 6: 115,710,946 (GRCm39) probably benign Het
Tpr G A 1: 150,283,165 (GRCm39) probably benign Het
Ttll12 A T 15: 83,464,859 (GRCm39) probably benign Het
Ttn T A 2: 76,739,952 (GRCm39) D3529V probably benign Het
Usp34 T A 11: 23,283,838 (GRCm39) H177Q possibly damaging Het
Vsig10 T A 5: 117,476,526 (GRCm39) S327T probably benign Het
Zbtb4 T A 11: 69,668,465 (GRCm39) M396K probably damaging Het
Zfp352 C T 4: 90,113,246 (GRCm39) T462I possibly damaging Het
Zfp385b T C 2: 77,307,189 (GRCm39) M145V probably damaging Het
Zfp780b C A 7: 27,671,114 (GRCm39) V65F 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
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'- AAGACCGTGCCCAATTCCACTG -3'
(R):5'- GGCTGTCCTGGTATTGATCCCCTG -3'

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