Incidental Mutation 'R1168:Kif21a'
ID 101388
Institutional Source Beutler Lab
Gene Symbol Kif21a
Ensembl Gene ENSMUSG00000022629
Gene Name kinesin family member 21A
Synonyms N-5 kinesin
MMRRC Submission 039241-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1168 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 90933276-91049948 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90993753 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 284 (T284I)
Ref Sequence ENSEMBL: ENSMUSP00000104911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067205] [ENSMUST00000088614] [ENSMUST00000100304] [ENSMUST00000109287] [ENSMUST00000109288]
AlphaFold Q9QXL2
Predicted Effect probably damaging
Transcript: ENSMUST00000067205
AA Change: T284I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066911
Gene: ENSMUSG00000022629
AA Change: T284I

DomainStartEndE-ValueType
KISc 7 379 8.97e-163 SMART
Blast:KISc 469 513 9e-9 BLAST
low complexity region 514 525 N/A INTRINSIC
low complexity region 542 557 N/A INTRINSIC
low complexity region 571 585 N/A INTRINSIC
low complexity region 589 628 N/A INTRINSIC
low complexity region 700 713 N/A INTRINSIC
coiled coil region 924 1008 N/A INTRINSIC
coiled coil region 1043 1066 N/A INTRINSIC
low complexity region 1101 1112 N/A INTRINSIC
low complexity region 1222 1234 N/A INTRINSIC
low complexity region 1251 1271 N/A INTRINSIC
WD40 1290 1327 1.21e-7 SMART
WD40 1330 1368 7.28e-2 SMART
WD40 1394 1432 3.33e-1 SMART
WD40 1435 1477 7e-4 SMART
WD40 1485 1523 2.4e-1 SMART
WD40 1527 1566 1.48e-2 SMART
WD40 1569 1606 2.07e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000088614
AA Change: T284I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085985
Gene: ENSMUSG00000022629
AA Change: T284I

DomainStartEndE-ValueType
KISc 7 379 8.97e-163 SMART
Blast:KISc 469 513 1e-8 BLAST
low complexity region 514 525 N/A INTRINSIC
low complexity region 542 564 N/A INTRINSIC
low complexity region 584 598 N/A INTRINSIC
low complexity region 602 641 N/A INTRINSIC
low complexity region 713 726 N/A INTRINSIC
coiled coil region 937 1021 N/A INTRINSIC
coiled coil region 1056 1079 N/A INTRINSIC
low complexity region 1114 1125 N/A INTRINSIC
low complexity region 1271 1283 N/A INTRINSIC
low complexity region 1300 1316 N/A INTRINSIC
WD40 1334 1371 1.21e-7 SMART
WD40 1374 1412 7.28e-2 SMART
WD40 1438 1476 3.33e-1 SMART
WD40 1479 1521 7e-4 SMART
WD40 1529 1567 2.4e-1 SMART
WD40 1571 1610 1.48e-2 SMART
WD40 1613 1650 2.07e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100304
AA Change: T284I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097877
Gene: ENSMUSG00000022629
AA Change: T284I

DomainStartEndE-ValueType
KISc 7 379 8.97e-163 SMART
Blast:KISc 469 513 1e-8 BLAST
low complexity region 514 525 N/A INTRINSIC
low complexity region 542 564 N/A INTRINSIC
low complexity region 584 598 N/A INTRINSIC
low complexity region 602 641 N/A INTRINSIC
low complexity region 713 726 N/A INTRINSIC
coiled coil region 937 1021 N/A INTRINSIC
coiled coil region 1056 1079 N/A INTRINSIC
low complexity region 1271 1283 N/A INTRINSIC
low complexity region 1300 1316 N/A INTRINSIC
WD40 1334 1371 1.21e-7 SMART
WD40 1374 1412 7.28e-2 SMART
WD40 1438 1476 3.33e-1 SMART
WD40 1479 1521 7e-4 SMART
WD40 1529 1567 2.4e-1 SMART
WD40 1571 1610 1.48e-2 SMART
WD40 1613 1650 2.07e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109287
AA Change: T284I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104910
Gene: ENSMUSG00000022629
AA Change: T284I

DomainStartEndE-ValueType
KISc 7 379 8.97e-163 SMART
Blast:KISc 469 513 9e-9 BLAST
low complexity region 514 525 N/A INTRINSIC
low complexity region 542 557 N/A INTRINSIC
low complexity region 571 585 N/A INTRINSIC
low complexity region 589 628 N/A INTRINSIC
low complexity region 700 713 N/A INTRINSIC
coiled coil region 924 1008 N/A INTRINSIC
coiled coil region 1043 1066 N/A INTRINSIC
low complexity region 1101 1112 N/A INTRINSIC
WD40 1229 1266 1.21e-7 SMART
WD40 1269 1307 7.28e-2 SMART
WD40 1333 1371 3.33e-1 SMART
WD40 1374 1416 7e-4 SMART
WD40 1424 1462 2.4e-1 SMART
WD40 1466 1505 1.48e-2 SMART
WD40 1508 1545 2.07e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109288
AA Change: T284I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104911
Gene: ENSMUSG00000022629
AA Change: T284I

DomainStartEndE-ValueType
KISc 7 379 8.97e-163 SMART
Blast:KISc 469 513 9e-9 BLAST
low complexity region 514 525 N/A INTRINSIC
low complexity region 542 557 N/A INTRINSIC
low complexity region 571 585 N/A INTRINSIC
low complexity region 589 628 N/A INTRINSIC
low complexity region 700 713 N/A INTRINSIC
coiled coil region 924 1008 N/A INTRINSIC
coiled coil region 1043 1066 N/A INTRINSIC
low complexity region 1205 1216 N/A INTRINSIC
WD40 1235 1272 1.21e-7 SMART
WD40 1275 1313 7.28e-2 SMART
WD40 1339 1377 3.33e-1 SMART
WD40 1380 1422 7e-4 SMART
WD40 1430 1468 2.4e-1 SMART
WD40 1472 1511 1.48e-2 SMART
WD40 1514 1551 2.07e-6 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.2%
  • 20x: 88.8%
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 KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 138,067,900 (GRCm38) V950A probably benign Het
Adgrb3 A T 1: 25,826,199 (GRCm38) S188T probably benign Het
Ahr A T 12: 35,504,532 (GRCm38) N529K possibly damaging Het
Akr1c21 A G 13: 4,583,837 (GRCm38) N302D probably benign Het
Aldh8a1 T A 10: 21,384,631 (GRCm38) probably null Het
Alpk3 A T 7: 81,103,357 (GRCm38) K1554M probably damaging Het
Arhgef5 T A 6: 43,273,396 (GRCm38) H360Q probably benign Het
Cacna1a A G 8: 84,579,501 (GRCm38) I1293V probably damaging Het
Cacna2d4 C T 6: 119,307,286 (GRCm38) R745W probably damaging Het
Cd200r4 T A 16: 44,832,944 (GRCm38) W72R probably damaging Het
Ces2e A T 8: 104,927,014 (GRCm38) D28V possibly damaging Het
Cfap20dc T C 14: 8,442,939 (GRCm38) N610S probably benign Het
Cfap45 T C 1: 172,545,697 (GRCm38) Y534H probably damaging Het
Cfap54 A T 10: 92,937,920 (GRCm38) C87S probably damaging Het
Chmp7 C T 14: 69,719,450 (GRCm38) M336I probably benign Het
Chrna4 T A 2: 181,034,138 (GRCm38) M67L possibly damaging Het
Cts7 T A 13: 61,353,817 (GRCm38) N290Y probably damaging Het
Enpp6 A T 8: 47,030,454 (GRCm38) M94L probably damaging Het
Fam83d C T 2: 158,768,523 (GRCm38) A137V probably benign Het
Foxd2 C T 4: 114,907,678 (GRCm38) A382T possibly damaging Het
Galnt11 T G 5: 25,250,246 (GRCm38) S193R probably damaging Het
Gapvd1 A T 2: 34,704,469 (GRCm38) D856E probably damaging Het
Gclm T A 3: 122,262,688 (GRCm38) H86Q possibly damaging Het
Gipc2 T C 3: 152,107,997 (GRCm38) T220A probably benign Het
Gm12185 G T 11: 48,915,355 (GRCm38) N336K possibly damaging Het
Gm5431 A T 11: 48,895,364 (GRCm38) S61R probably benign Het
Gorasp2 C T 2: 70,688,400 (GRCm38) P260S probably damaging Het
H2-M10.6 A G 17: 36,813,160 (GRCm38) Q172R probably benign Het
Ibsp A G 5: 104,302,152 (GRCm38) I6V probably damaging Het
Iqsec1 T C 6: 90,689,676 (GRCm38) Y593C probably damaging Het
Irag1 T C 7: 110,895,931 (GRCm38) K429R probably damaging Het
Itln1 G T 1: 171,531,551 (GRCm38) Y61* probably null Het
Kif3a G A 11: 53,598,312 (GRCm38) G621R probably damaging Het
Klb A G 5: 65,378,974 (GRCm38) Y549C probably damaging Het
Lman1l G A 9: 57,608,312 (GRCm38) R427C probably benign Het
Lrrc37 T C 11: 103,618,950 (GRCm38) probably benign Het
Map4 T C 9: 110,034,964 (GRCm38) V419A probably benign Het
Mastl A T 2: 23,133,132 (GRCm38) D526E probably benign Het
Mtif2 A G 11: 29,536,914 (GRCm38) D308G probably benign Het
Ncald A G 15: 37,397,334 (GRCm38) F34S probably damaging Het
Ndc1 A G 4: 107,395,812 (GRCm38) T593A probably benign Het
Ndst3 C T 3: 123,606,968 (GRCm38) V15I probably benign Het
Nup214 A G 2: 32,025,301 (GRCm38) N1166D probably benign Het
Or1a1 A G 11: 74,196,421 (GRCm38) H306R probably benign Het
Or2ad1 A G 13: 21,142,617 (GRCm38) S147P probably benign Het
Or4a68 G A 2: 89,439,869 (GRCm38) Q137* probably null Het
Or5m8 A T 2: 85,992,684 (GRCm38) Y289F probably damaging Het
Pcdhb8 T C 18: 37,356,727 (GRCm38) I486T probably benign Het
Pdzrn4 A T 15: 92,770,271 (GRCm38) Y768F probably benign Het
Pgf A G 12: 85,171,767 (GRCm38) S70P probably benign Het
Plcl2 G A 17: 50,607,072 (GRCm38) A370T possibly damaging Het
Pnkp T A 7: 44,862,537 (GRCm38) W115R probably benign Het
Ppp1r16a C T 15: 76,693,669 (GRCm38) Q328* probably null Het
Prag1 A G 8: 36,146,645 (GRCm38) E1117G probably damaging Het
Prr12 T A 7: 45,029,047 (GRCm38) Q1919L unknown Het
Ret G T 6: 118,173,558 (GRCm38) H666N possibly damaging Het
Rfwd3 C T 8: 111,288,242 (GRCm38) R326Q probably damaging Het
Robo2 C T 16: 73,948,296 (GRCm38) G864S probably damaging Het
Rpa2 T G 4: 132,771,860 (GRCm38) I80S probably damaging Het
Ryk A T 9: 102,898,475 (GRCm38) D428V probably damaging Het
Slc29a1 A T 17: 45,590,278 (GRCm38) N30K probably damaging Het
Stbd1 A G 5: 92,604,936 (GRCm38) N95S probably benign Het
Tbc1d22a A G 15: 86,292,134 (GRCm38) E212G probably benign Het
Tex14 A G 11: 87,536,742 (GRCm38) T7A probably benign Het
Tmc8 T C 11: 117,792,563 (GRCm38) V648A possibly damaging Het
Tmem132b G T 5: 125,787,019 (GRCm38) V730F probably damaging Het
Tmub2 G A 11: 102,287,370 (GRCm38) G33D possibly damaging Het
Trak1 G A 9: 121,440,679 (GRCm38) D124N probably damaging Het
Ttc28 A T 5: 111,231,111 (GRCm38) Y1154F probably damaging Het
Ttn T C 2: 76,909,369 (GRCm38) T3609A probably benign Het
Tulp2 A G 7: 45,517,842 (GRCm38) T99A probably benign Het
Ugt2a2 A T 5: 87,465,568 (GRCm38) probably null Het
Ush2a G A 1: 188,678,411 (GRCm38) V2419I probably benign Het
Vill C A 9: 119,070,321 (GRCm38) P343Q probably damaging Het
Vmn2r66 T A 7: 85,006,854 (GRCm38) H318L possibly damaging Het
Wdr3 A C 3: 100,142,219 (GRCm38) N800K probably benign Het
Wdr93 A G 7: 79,749,174 (GRCm38) K19E probably damaging Het
Wrn A G 8: 33,316,408 (GRCm38) S333P probably damaging Het
Zfp418 T C 7: 7,182,501 (GRCm38) S488P possibly damaging Het
Zfp804a A G 2: 82,256,697 (GRCm38) E290G probably benign Het
Other mutations in Kif21a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Kif21a APN 15 90,937,301 (GRCm38) missense probably damaging 1.00
IGL01476:Kif21a APN 15 90,943,864 (GRCm38) missense possibly damaging 0.66
IGL01617:Kif21a APN 15 90,995,637 (GRCm38) splice site probably benign
IGL01736:Kif21a APN 15 90,959,745 (GRCm38) missense possibly damaging 0.59
IGL01923:Kif21a APN 15 90,956,430 (GRCm38) missense probably damaging 0.96
IGL01985:Kif21a APN 15 90,991,767 (GRCm38) missense probably damaging 1.00
IGL02304:Kif21a APN 15 90,965,535 (GRCm38) missense probably damaging 1.00
IGL02589:Kif21a APN 15 90,985,286 (GRCm38) missense probably damaging 1.00
IGL03115:Kif21a APN 15 90,985,395 (GRCm38) missense probably damaging 0.99
IGL03211:Kif21a APN 15 90,997,963 (GRCm38) missense possibly damaging 0.73
IGL03372:Kif21a APN 15 90,956,376 (GRCm38) missense probably benign 0.38
reflex UTSW 15 90,968,358 (GRCm38) missense probably null 1.00
R0052:Kif21a UTSW 15 90,970,857 (GRCm38) missense probably damaging 0.98
R0052:Kif21a UTSW 15 90,970,857 (GRCm38) missense probably damaging 0.98
R0304:Kif21a UTSW 15 90,976,521 (GRCm38) splice site probably null
R0378:Kif21a UTSW 15 90,969,774 (GRCm38) splice site probably null
R0420:Kif21a UTSW 15 90,968,054 (GRCm38) unclassified probably benign
R0536:Kif21a UTSW 15 90,959,683 (GRCm38) splice site probably benign
R0826:Kif21a UTSW 15 90,997,541 (GRCm38) critical splice donor site probably null
R0971:Kif21a UTSW 15 90,940,581 (GRCm38) missense possibly damaging 0.46
R1052:Kif21a UTSW 15 90,935,650 (GRCm38) missense probably benign 0.17
R1324:Kif21a UTSW 15 90,948,322 (GRCm38) critical splice donor site probably null
R1471:Kif21a UTSW 15 90,956,419 (GRCm38) missense probably benign 0.04
R1625:Kif21a UTSW 15 90,942,175 (GRCm38) missense probably damaging 1.00
R1636:Kif21a UTSW 15 90,984,805 (GRCm38) splice site probably benign
R1647:Kif21a UTSW 15 90,994,367 (GRCm38) missense probably damaging 1.00
R1648:Kif21a UTSW 15 90,994,367 (GRCm38) missense probably damaging 1.00
R1699:Kif21a UTSW 15 90,959,743 (GRCm38) missense probably damaging 0.99
R1703:Kif21a UTSW 15 90,949,047 (GRCm38) splice site probably null
R1795:Kif21a UTSW 15 90,972,727 (GRCm38) splice site probably null
R1812:Kif21a UTSW 15 90,971,766 (GRCm38) missense possibly damaging 0.63
R1959:Kif21a UTSW 15 90,970,848 (GRCm38) missense probably damaging 0.99
R1960:Kif21a UTSW 15 90,970,848 (GRCm38) missense probably damaging 0.99
R1961:Kif21a UTSW 15 90,970,848 (GRCm38) missense probably damaging 0.99
R1996:Kif21a UTSW 15 90,994,371 (GRCm38) nonsense probably null
R2230:Kif21a UTSW 15 90,985,362 (GRCm38) nonsense probably null
R2231:Kif21a UTSW 15 90,985,362 (GRCm38) nonsense probably null
R2232:Kif21a UTSW 15 90,985,362 (GRCm38) nonsense probably null
R2424:Kif21a UTSW 15 90,971,196 (GRCm38) missense probably damaging 1.00
R2429:Kif21a UTSW 15 90,998,005 (GRCm38) missense probably damaging 1.00
R2513:Kif21a UTSW 15 90,994,391 (GRCm38) missense possibly damaging 0.96
R2846:Kif21a UTSW 15 90,934,464 (GRCm38) missense probably benign
R3027:Kif21a UTSW 15 90,972,642 (GRCm38) missense probably damaging 0.99
R3624:Kif21a UTSW 15 90,965,595 (GRCm38) missense probably damaging 0.99
R3820:Kif21a UTSW 15 90,968,074 (GRCm38) missense probably benign 0.17
R3923:Kif21a UTSW 15 90,937,294 (GRCm38) missense possibly damaging 0.46
R3962:Kif21a UTSW 15 90,985,409 (GRCm38) missense probably damaging 1.00
R4355:Kif21a UTSW 15 90,970,833 (GRCm38) missense probably benign 0.17
R4516:Kif21a UTSW 15 90,971,142 (GRCm38) missense probably benign 0.38
R4530:Kif21a UTSW 15 90,968,089 (GRCm38) splice site probably null
R4612:Kif21a UTSW 15 90,968,223 (GRCm38) splice site probably null
R4674:Kif21a UTSW 15 90,940,545 (GRCm38) missense possibly damaging 0.66
R4675:Kif21a UTSW 15 90,940,545 (GRCm38) missense possibly damaging 0.66
R4698:Kif21a UTSW 15 90,956,305 (GRCm38) missense possibly damaging 0.85
R4712:Kif21a UTSW 15 90,984,755 (GRCm38) missense probably damaging 1.00
R4955:Kif21a UTSW 15 90,937,190 (GRCm38) missense probably damaging 1.00
R4974:Kif21a UTSW 15 90,949,010 (GRCm38) missense probably benign 0.16
R5034:Kif21a UTSW 15 90,968,358 (GRCm38) missense probably null 1.00
R5165:Kif21a UTSW 15 90,956,376 (GRCm38) missense probably benign 0.38
R5464:Kif21a UTSW 15 90,993,855 (GRCm38) missense probably damaging 1.00
R5541:Kif21a UTSW 15 90,968,113 (GRCm38) missense probably damaging 0.99
R5757:Kif21a UTSW 15 90,951,345 (GRCm38) missense probably damaging 1.00
R5936:Kif21a UTSW 15 90,935,647 (GRCm38) missense possibly damaging 0.95
R5976:Kif21a UTSW 15 90,935,812 (GRCm38) missense probably damaging 1.00
R6074:Kif21a UTSW 15 90,980,892 (GRCm38) missense probably benign
R6638:Kif21a UTSW 15 90,966,407 (GRCm38) missense probably damaging 1.00
R6723:Kif21a UTSW 15 90,940,446 (GRCm38) missense probably damaging 0.97
R6785:Kif21a UTSW 15 90,935,730 (GRCm38) missense probably damaging 1.00
R6977:Kif21a UTSW 15 90,980,837 (GRCm38) missense probably damaging 1.00
R7058:Kif21a UTSW 15 90,948,903 (GRCm38) splice site probably null
R7147:Kif21a UTSW 15 90,980,883 (GRCm38) missense probably benign 0.13
R7290:Kif21a UTSW 15 90,967,229 (GRCm38) nonsense probably null
R7438:Kif21a UTSW 15 90,993,796 (GRCm38) missense probably benign 0.37
R7593:Kif21a UTSW 15 90,943,861 (GRCm38) missense probably benign 0.03
R7661:Kif21a UTSW 15 90,980,919 (GRCm38) missense possibly damaging 0.89
R7891:Kif21a UTSW 15 90,956,314 (GRCm38) missense probably damaging 1.00
R8137:Kif21a UTSW 15 90,968,442 (GRCm38) missense probably benign
R8182:Kif21a UTSW 15 90,935,761 (GRCm38) missense possibly damaging 0.77
R8303:Kif21a UTSW 15 90,971,196 (GRCm38) missense probably damaging 0.99
R8388:Kif21a UTSW 15 90,959,124 (GRCm38) missense possibly damaging 0.60
R8867:Kif21a UTSW 15 90,968,179 (GRCm38) missense probably damaging 0.96
R8921:Kif21a UTSW 15 90,971,727 (GRCm38) missense probably benign 0.04
R8984:Kif21a UTSW 15 90,956,356 (GRCm38) missense probably benign 0.00
R9024:Kif21a UTSW 15 90,937,196 (GRCm38) nonsense probably null
R9254:Kif21a UTSW 15 90,969,827 (GRCm38) missense probably damaging 0.99
R9366:Kif21a UTSW 15 90,959,748 (GRCm38) missense probably damaging 0.99
R9379:Kif21a UTSW 15 90,969,827 (GRCm38) missense probably damaging 0.99
R9393:Kif21a UTSW 15 90,969,778 (GRCm38) missense probably benign 0.00
R9518:Kif21a UTSW 15 90,956,473 (GRCm38) missense probably damaging 1.00
R9712:Kif21a UTSW 15 90,995,512 (GRCm38) missense probably benign 0.13
R9712:Kif21a UTSW 15 90,985,325 (GRCm38) missense probably damaging 0.98
R9721:Kif21a UTSW 15 90,971,127 (GRCm38) missense probably damaging 0.99
Predicted Primers
Posted On 2014-01-15