Incidental Mutation 'R4838:Kif13a'
ID 371565
Institutional Source Beutler Lab
Gene Symbol Kif13a
Ensembl Gene ENSMUSG00000021375
Gene Name kinesin family member 13A
Synonyms 4930505I07Rik, N-3 kinesin
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R4838 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 46902563-47083343 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46980224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 176 (K176R)
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: K176R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000055304
Gene: ENSMUSG00000021375
AA Change: K176R

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: K113R

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,944,523 (GRCm39) V386A probably benign Het
Adk G A 14: 21,419,154 (GRCm39) A247T probably damaging Het
Ankrd27 T A 7: 35,291,231 (GRCm39) L9Q possibly damaging Het
Atad2 A G 15: 57,966,679 (GRCm39) L638P probably damaging Het
Atf7ip T A 6: 136,573,489 (GRCm39) D1009E probably benign Het
Bend7 A T 2: 4,749,133 (GRCm39) K83N probably damaging Het
Bicc1 C T 10: 70,781,146 (GRCm39) D562N possibly damaging Het
Calcrl T A 2: 84,181,549 (GRCm39) N200Y probably damaging Het
Ccdc125 C A 13: 100,814,453 (GRCm39) A11E possibly damaging Het
Cd5l A G 3: 87,273,258 (GRCm39) T76A probably benign Het
Cdhr5 A T 7: 140,853,644 (GRCm39) I2N probably damaging Het
Cdk10 C T 8: 123,957,353 (GRCm39) A230V probably damaging Het
Cep128 T C 12: 90,966,319 (GRCm39) probably benign Het
Cep131 T C 11: 119,966,982 (GRCm39) N186D probably damaging Het
Cfhr4 T A 1: 139,661,181 (GRCm39) D556V probably damaging Het
Cog7 G T 7: 121,570,604 (GRCm39) P168Q probably damaging Het
Col28a1 T A 6: 8,014,559 (GRCm39) M949L probably benign Het
Coq8b T A 7: 26,950,016 (GRCm39) M365K probably damaging Het
Cpa1 A G 6: 30,639,515 (GRCm39) E18G possibly damaging Het
Csmd2 A G 4: 128,411,542 (GRCm39) H2520R probably benign Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Dpm1 G A 2: 168,052,456 (GRCm39) T260I probably damaging Het
Dtx3 A T 10: 127,027,176 (GRCm39) probably null Het
Eepd1 T C 9: 25,500,756 (GRCm39) V401A possibly damaging Het
Ehhadh A G 16: 21,581,952 (GRCm39) S347P possibly damaging Het
Elp3 A G 14: 65,785,313 (GRCm39) probably null Het
Enam C T 5: 88,640,967 (GRCm39) Q210* probably null Het
Epha1 C T 6: 42,340,750 (GRCm39) R607H probably benign Het
Erich6 A G 3: 58,544,251 (GRCm39) I112T probably benign Het
F830045P16Rik A G 2: 129,302,470 (GRCm39) V374A possibly damaging Het
Fam171a2 C A 11: 102,329,511 (GRCm39) R416L possibly damaging Het
Fbn1 T C 2: 125,214,319 (GRCm39) N764S probably benign Het
Fip1l1 C T 5: 74,752,600 (GRCm39) T469I probably damaging Het
Flad1 G A 3: 89,313,217 (GRCm39) R342C probably damaging Het
Fzd3 A G 14: 65,477,269 (GRCm39) V95A probably benign Het
Garem1 T C 18: 21,280,950 (GRCm39) T469A probably benign Het
Gm17093 A G 14: 44,755,805 (GRCm39) Y24C unknown Het
Grap2 T C 15: 80,522,762 (GRCm39) V96A possibly damaging Het
Greb1 A T 12: 16,734,361 (GRCm39) probably null Het
Grid2ip A T 5: 143,374,530 (GRCm39) K913* probably null Het
Gzmk T C 13: 113,309,555 (GRCm39) D126G probably damaging Het
Hibch A G 1: 52,924,337 (GRCm39) I171V possibly damaging Het
Hipk2 G T 6: 38,795,339 (GRCm39) T310K possibly damaging Het
Hk3 T C 13: 55,154,231 (GRCm39) Y815C probably damaging Het
Hps5 A T 7: 46,437,778 (GRCm39) V99E probably damaging Het
Hspg2 A G 4: 137,268,977 (GRCm39) H2203R possibly damaging Het
Il12rb2 A G 6: 67,286,121 (GRCm39) V108A probably damaging Het
Il6st C T 13: 112,627,044 (GRCm39) R279* probably null Het
Kdm2a A C 19: 4,375,054 (GRCm39) S692R probably benign Het
Kif5b T C 18: 6,216,869 (GRCm39) K485E probably damaging Het
Ktn1 C T 14: 47,963,413 (GRCm39) R1111* probably null Het
Lrrc23 A T 6: 124,755,152 (GRCm39) N128K probably benign Het
Mad1l1 G A 5: 140,286,017 (GRCm39) Q293* probably null Het
Man1b1 A T 2: 25,235,487 (GRCm39) I338F possibly damaging Het
Marchf1 G T 8: 66,921,015 (GRCm39) V225L probably damaging Het
Matcap2 A T 9: 22,335,673 (GRCm39) D97V probably damaging Het
Mrpl3 A G 9: 104,934,231 (GRCm39) D118G probably damaging Het
Nomo1 A T 7: 45,733,139 (GRCm39) Q1209L unknown Het
Nrcam A G 12: 44,620,802 (GRCm39) E949G probably damaging Het
Olfm5 T G 7: 103,803,572 (GRCm39) N297T probably damaging Het
Or51h7 T A 7: 102,591,453 (GRCm39) L110F probably damaging Het
Pcdh7 A T 5: 57,878,146 (GRCm39) N567I probably damaging Het
Pkn1 A G 8: 84,404,595 (GRCm39) L495P probably damaging Het
Pkp1 T C 1: 135,810,326 (GRCm39) S415G probably damaging Het
Pou2f1 T A 1: 165,744,492 (GRCm39) Q53L probably null Het
Pramel26 G A 4: 143,537,375 (GRCm39) Q319* probably null Het
Prkce A G 17: 86,937,511 (GRCm39) K648R probably benign Het
Ptprh G A 7: 4,576,429 (GRCm39) T277I possibly damaging Het
Rpl31 C T 1: 39,410,048 (GRCm39) R83C probably benign Het
Rpusd3 G A 6: 113,393,837 (GRCm39) Q194* probably null Het
Sgsm1 T A 5: 113,430,492 (GRCm39) N298Y probably damaging Het
She G A 3: 89,758,946 (GRCm39) G355D probably benign Het
Shld2 A G 14: 33,990,582 (GRCm39) V108A probably benign Het
Snx11 C T 11: 96,665,284 (GRCm39) E9K possibly damaging Het
Soat1 C A 1: 156,260,507 (GRCm39) A444S probably benign Het
Sox6 T C 7: 115,085,897 (GRCm39) Y690C probably damaging Het
Spata13 T A 14: 60,970,628 (GRCm39) F10I probably benign Het
St18 C A 1: 6,873,129 (GRCm39) T288K probably benign Het
Tifa C T 3: 127,590,235 (GRCm39) S2F probably damaging Het
Tmem232 A T 17: 65,737,883 (GRCm39) S392R probably benign Het
Tmtc3 T C 10: 100,302,082 (GRCm39) N289S probably damaging Het
Tpo A G 12: 30,142,633 (GRCm39) F697S probably damaging Het
Trp53 A G 11: 69,478,456 (GRCm39) T122A probably damaging Het
Trps1 A C 15: 50,690,712 (GRCm39) I10S probably benign Het
Tubgcp5 C T 7: 55,443,933 (GRCm39) probably benign Het
Unc13c T G 9: 73,839,354 (GRCm39) Y499S possibly damaging Het
Unc45a C A 7: 79,982,783 (GRCm39) D381Y probably damaging Het
Upf1 G C 8: 70,792,018 (GRCm39) H402Q probably benign Het
Uroc1 A T 6: 90,326,174 (GRCm39) I510F possibly damaging Het
Usp15 A G 10: 122,963,662 (GRCm39) F589L probably damaging Het
Vmn2r76 T C 7: 85,874,733 (GRCm39) Y748C probably damaging Het
Wwp1 T C 4: 19,662,143 (GRCm39) N151D probably benign Het
Zbtb40 A T 4: 136,728,527 (GRCm39) S439T probably benign Het
Zbtb6 A T 2: 37,318,728 (GRCm39) L400* probably null Het
Zfp125 C T 12: 20,949,961 (GRCm39) noncoding transcript Het
Zmynd8 A C 2: 165,681,954 (GRCm39) Y183* probably null Het
Zpld2 A G 4: 133,920,410 (GRCm39) V585A 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 46,927,154 (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
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'- ACAAGGCAGCCTGAAGTGTG -3'
(R):5'- ATAAAGTGGCCATTAAAGCACCTTC -3'

Sequencing Primer
(F):5'- GTGTGACTGAAGGACACCATTCC -3'
(R):5'- GTGGCCATTAAAGCACCTTCTAATC -3'
Posted On 2016-03-01