Incidental Mutation 'R7237:Kif13a'
ID 562924
Institutional Source Beutler Lab
Gene Symbol Kif13a
Ensembl Gene ENSMUSG00000021375
Gene Name kinesin family member 13A
Synonyms 4930505I07Rik, N-3 kinesin
MMRRC Submission 045344-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R7237 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 46902563-47083343 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 46962632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000055304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056978] [ENSMUST00000225591]
AlphaFold no structure available at present
Predicted Effect probably null
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 probably null
Transcript: ENSMUST00000225591
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (83/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A T 2: 20,854,783 (GRCm39) C1536* probably null Het
Armc9 C A 1: 86,092,571 (GRCm39) Q169K possibly damaging Het
Aspm T A 1: 139,405,667 (GRCm39) M1518K possibly damaging Het
AU018091 A G 7: 3,209,006 (GRCm39) I360T probably benign Het
BB014433 C A 8: 15,091,765 (GRCm39) V363L probably benign Het
Bcam T C 7: 19,503,232 (GRCm39) probably null Het
Cacna1g T C 11: 94,328,705 (GRCm39) S1071G probably benign Het
Card9 A T 2: 26,246,787 (GRCm39) S354T probably benign Het
Ccdc87 A G 19: 4,889,790 (GRCm39) N94S probably benign Het
Cdc27 A G 11: 104,408,245 (GRCm39) V555A probably benign Het
Coro1a T A 7: 126,299,478 (GRCm39) D411V probably benign Het
Cybrd1 GGTCCTGCAC G 2: 70,948,553 (GRCm39) probably benign Het
Cyth1 A T 11: 118,076,321 (GRCm39) I95N probably damaging Het
Dnah7b A T 1: 46,179,126 (GRCm39) E933V probably damaging Het
Dync2h1 A T 9: 6,993,966 (GRCm39) I3968N probably benign Het
Fam184a T C 10: 53,510,489 (GRCm39) probably benign Het
Fat3 G A 9: 16,288,510 (GRCm39) L338F probably damaging Het
Fcgr3 A G 1: 170,886,870 (GRCm39) L18P probably damaging Het
Gbp5 T C 3: 142,213,461 (GRCm39) V459A probably benign Het
Gja4 A T 4: 127,205,956 (GRCm39) M269K probably benign Het
Gm4787 A G 12: 81,424,442 (GRCm39) V572A probably damaging Het
Grin2d G T 7: 45,515,600 (GRCm39) S131* probably null Het
Gys1 A G 7: 45,104,586 (GRCm39) D671G probably benign Het
Haspin T C 11: 73,027,712 (GRCm39) N459S probably benign Het
Hdac10 G T 15: 89,009,580 (GRCm39) Q451K probably benign Het
Hdac9 T C 12: 34,424,139 (GRCm39) probably null Het
Hmcn1 A G 1: 150,598,394 (GRCm39) V1636A probably damaging Het
Hpca A G 4: 129,012,407 (GRCm39) L43P probably damaging Het
Hycc2 G A 1: 58,569,107 (GRCm39) Q491* probably null Het
Insm1 C A 2: 146,064,448 (GRCm39) A88E possibly damaging Het
Itga9 A G 9: 118,465,670 (GRCm39) K175E probably benign Het
Kif20b T A 19: 34,928,005 (GRCm39) L1089H probably damaging Het
Lamp5 A T 2: 135,901,755 (GRCm39) H152L probably benign Het
Lrp4 T C 2: 91,303,528 (GRCm39) F76L probably benign Het
Magi3 T C 3: 103,935,227 (GRCm39) D902G probably damaging Het
Map10 C T 8: 126,397,963 (GRCm39) P452L probably benign Het
Mapk6 A G 9: 75,304,895 (GRCm39) L174P probably damaging Het
Meak7 C T 8: 120,489,054 (GRCm39) G410S probably damaging Het
Ndufa4 C T 6: 11,906,018 (GRCm39) probably null Het
Nedd4 A T 9: 72,632,346 (GRCm39) E393D probably benign Het
Nlrp4b G A 7: 10,449,143 (GRCm39) V449I probably benign Het
Nufip2 T A 11: 77,583,596 (GRCm39) N503K probably benign Het
Or10ac1 T C 6: 42,515,581 (GRCm39) D125G probably damaging Het
Or6y1 C T 1: 174,276,905 (GRCm39) R239C probably benign Het
P4ha1 A G 10: 59,184,065 (GRCm39) T176A probably benign Het
Palm3 A G 8: 84,756,117 (GRCm39) K543R probably benign Het
Parvg G A 15: 84,225,557 (GRCm39) A302T probably benign Het
Pcdh15 A G 10: 74,420,023 (GRCm39) D1227G possibly damaging Het
Pdzd8 C T 19: 59,333,571 (GRCm39) G150D probably damaging Het
Pitpnm2 A G 5: 124,263,360 (GRCm39) probably null Het
Pld5 T C 1: 176,102,301 (GRCm39) Q47R possibly damaging Het
Ppp2r5d T C 17: 46,997,206 (GRCm39) S329G possibly damaging Het
Prss56 T C 1: 87,112,637 (GRCm39) V144A probably damaging Het
Psg28 A T 7: 18,161,769 (GRCm39) Y245N possibly damaging Het
Ptpn3 C T 4: 57,239,625 (GRCm39) V302I probably damaging Het
Ptprn2 A G 12: 117,125,347 (GRCm39) H627R probably benign Het
Rasgrp2 A T 19: 6,454,838 (GRCm39) H226L possibly damaging Het
Rbm20 C T 19: 53,839,930 (GRCm39) T973M probably benign Het
Rigi T A 4: 40,205,938 (GRCm39) I885F probably benign Het
Riok2 T A 17: 17,598,045 (GRCm39) L44Q probably damaging Het
Rusc1 G T 3: 88,998,805 (GRCm39) Q326K possibly damaging Het
Rxylt1 A T 10: 121,917,523 (GRCm39) L330* probably null Het
Sart3 A T 5: 113,892,307 (GRCm39) H397Q possibly damaging Het
Sec31b T A 19: 44,506,147 (GRCm39) T920S probably damaging Het
Serpinb13 A G 1: 106,926,679 (GRCm39) E225G probably damaging Het
Slc25a47 T C 12: 108,821,386 (GRCm39) L165P probably damaging Het
Slc2a10 G A 2: 165,357,197 (GRCm39) V286I probably benign Het
Slc39a13 G T 2: 90,895,979 (GRCm39) T174N probably benign Het
Slc7a13 T A 4: 19,839,364 (GRCm39) N322K probably benign Het
Stk38 T C 17: 29,193,620 (GRCm39) T326A possibly damaging Het
Sult1a1 T C 7: 126,272,622 (GRCm39) M244V probably benign Het
Tas2r144 C T 6: 42,192,800 (GRCm39) T180I probably damaging Het
Tbc1d12 T A 19: 38,887,346 (GRCm39) M366K probably benign Het
Terb1 T C 8: 105,221,959 (GRCm39) I147V possibly damaging Het
Tnik T C 3: 28,692,568 (GRCm39) Y820H probably damaging Het
Tnxb C A 17: 34,901,170 (GRCm39) L995I possibly damaging Het
Trim34b A G 7: 103,978,794 (GRCm39) T14A possibly damaging Het
Urb1 T C 16: 90,588,054 (GRCm39) E418G probably damaging Het
Vmn1r12 T A 6: 57,136,550 (GRCm39) C216S possibly damaging Het
Vmn2r90 T A 17: 17,924,249 (GRCm39) V16E possibly damaging Het
Vps11 A T 9: 44,265,803 (GRCm39) V492D probably damaging Het
Wdr62 A C 7: 29,969,869 (GRCm39) probably null Het
Zc3h14 T A 12: 98,746,408 (GRCm39) M539K probably benign Het
Zfp871 A T 17: 32,994,289 (GRCm39) H295Q probably 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
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
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'- CTCGTAGTTGTAGTCTGGCTCC -3'
(R):5'- TCCCAGAATGCATCCGTTAGG -3'

Sequencing Primer
(F):5'- TCGCAGCGTCTAGATCGTG -3'
(R):5'- TTAGGAGACCGGTCCCTGTC -3'
Posted On 2019-06-26