Incidental Mutation 'R5936:Kif21a'
ID 462289
Institutional Source Beutler Lab
Gene Symbol Kif21a
Ensembl Gene ENSMUSG00000022629
Gene Name kinesin family member 21A
Synonyms N-5 kinesin
MMRRC Submission 044130-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5936 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 90933276-91049948 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90935647 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 1594 (F1594S)
Ref Sequence ENSEMBL: ENSMUSP00000066911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067205] [ENSMUST00000088614] [ENSMUST00000100304] [ENSMUST00000109287] [ENSMUST00000109288]
AlphaFold Q9QXL2
Predicted Effect possibly damaging
Transcript: ENSMUST00000067205
AA Change: F1594S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066911
Gene: ENSMUSG00000022629
AA Change: F1594S

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 possibly damaging
Transcript: ENSMUST00000088614
AA Change: F1638S

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000085985
Gene: ENSMUSG00000022629
AA Change: F1638S

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 benign
Transcript: ENSMUST00000100304
AA Change: F1638S

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097877
Gene: ENSMUSG00000022629
AA Change: F1638S

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 possibly damaging
Transcript: ENSMUST00000109287
AA Change: F1533S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104910
Gene: ENSMUSG00000022629
AA Change: F1533S

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 possibly damaging
Transcript: ENSMUST00000109288
AA Change: F1539S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104911
Gene: ENSMUSG00000022629
AA Change: F1539S

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
Predicted Effect probably benign
Transcript: ENSMUST00000230487
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 91% (77/85)
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 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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A T 2: 68,615,504 (GRCm38) probably benign Het
Acnat2 T C 4: 49,383,362 (GRCm38) T64A probably benign Het
Afap1 A G 5: 35,974,396 (GRCm38) N356D possibly damaging Het
Ahi1 A G 10: 20,965,933 (GRCm38) D301G probably damaging Het
Alpk2 G A 18: 65,350,520 (GRCm38) T139M probably damaging Het
Ankrd46 T C 15: 36,479,282 (GRCm38) D221G probably benign Het
Ano6 T A 15: 95,972,601 (GRCm38) L900H probably damaging Het
Asphd2 G A 5: 112,385,757 (GRCm38) R343* probably null Het
BC055324 T G 1: 163,987,012 (GRCm38) I121L probably benign Het
Brdt A G 5: 107,359,395 (GRCm38) T554A probably damaging Het
Cacna1d A G 14: 30,171,314 (GRCm38) V401A possibly damaging Het
Cbs T C 17: 31,625,094 (GRCm38) T188A probably damaging Het
Cfap54 T A 10: 92,962,412 (GRCm38) T1662S probably benign Het
Chka A G 19: 3,884,580 (GRCm38) I205V probably benign Het
Chsy1 T A 7: 66,172,277 (GRCm38) N753K possibly damaging Het
Cpz A G 5: 35,502,643 (GRCm38) S553P probably benign Het
Crtac1 A G 19: 42,323,837 (GRCm38) Y146H probably damaging Het
Csf1r A T 18: 61,125,808 (GRCm38) I700F probably damaging Het
Ddx20 C A 3: 105,680,587 (GRCm38) E392D possibly damaging Het
Dhrs11 G T 11: 84,825,524 (GRCm38) Y67* probably null Het
Diaph3 G T 14: 86,772,116 (GRCm38) Q1076K possibly damaging Het
Dopey1 T A 9: 86,536,512 (GRCm38) L2037* probably null Het
Dst G T 1: 34,307,458 (GRCm38) V5336L probably damaging Het
Etv1 C A 12: 38,835,210 (GRCm38) H248Q probably damaging Het
Fam214a T C 9: 75,009,304 (GRCm38) L395P probably benign Het
Fcgbp T C 7: 28,086,692 (GRCm38) V518A probably damaging Het
Fchsd2 T C 7: 101,191,701 (GRCm38) L139S probably damaging Het
Fer A T 17: 63,924,063 (GRCm38) T270S probably benign Het
Fgd5 A G 6: 91,987,911 (GRCm38) E375G probably damaging Het
Gabarapl1 T A 6: 129,538,603 (GRCm38) I68N probably benign Het
Gopc C T 10: 52,346,199 (GRCm38) V30M probably damaging Het
Hbp1 T C 12: 31,937,096 (GRCm38) probably null Het
Helz2 A G 2: 181,230,767 (GRCm38) V2480A probably damaging Het
Igfbp3 T A 11: 7,209,472 (GRCm38) Y247F probably damaging Het
Kbtbd11 C A 8: 15,027,534 (GRCm38) S44R probably benign Het
Kcnk10 G T 12: 98,489,932 (GRCm38) S213R probably benign Het
Kcnq3 T A 15: 66,000,110 (GRCm38) D570V probably damaging Het
Klf3 A G 5: 64,822,960 (GRCm38) D31G probably damaging Het
Mapkapk3 T C 9: 107,289,170 (GRCm38) K59E probably damaging Het
Myo18a A G 11: 77,818,213 (GRCm38) T484A probably damaging Het
Nlrp6 T A 7: 140,922,812 (GRCm38) L277* probably null Het
Nr5a1 G T 2: 38,701,778 (GRCm38) probably benign Het
Nsmaf C T 4: 6,421,017 (GRCm38) probably benign Het
Olfr1311 T A 2: 112,021,587 (GRCm38) H89L probably benign Het
Orc1 A G 4: 108,601,983 (GRCm38) T450A probably benign Het
Pacsin1 A T 17: 27,704,997 (GRCm38) I122F probably benign Het
Pced1b T A 15: 97,385,180 (GRCm38) Y367N possibly damaging Het
Pced1b T A 15: 97,385,182 (GRCm38) Y367* probably null Het
Pdpk1 A G 17: 24,093,229 (GRCm38) F281L probably damaging Het
Piwil1 T C 5: 128,751,078 (GRCm38) V714A probably benign Het
Plcd3 C T 11: 103,078,347 (GRCm38) V265M probably damaging Het
Ppp1r1c A T 2: 79,756,454 (GRCm38) E48V possibly damaging Het
Prl2b1 T G 13: 27,388,449 (GRCm38) T53P probably damaging Het
Ptch2 T G 4: 117,108,294 (GRCm38) F359V probably benign Het
R3hdm2 G A 10: 127,471,812 (GRCm38) S314N probably damaging Het
Rictor A T 15: 6,784,161 (GRCm38) S1043C probably damaging Het
Rtn4rl2 A T 2: 84,880,431 (GRCm38) L163Q probably damaging Het
Sarnp T A 10: 128,848,771 (GRCm38) S129T probably benign Het
Scube3 A T 17: 28,165,487 (GRCm38) K585M probably damaging Het
Sgk3 C T 1: 9,885,820 (GRCm38) probably benign Het
Skint6 C T 4: 113,096,593 (GRCm38) S458N probably benign Het
Slc25a54 A G 3: 109,098,638 (GRCm38) H154R possibly damaging Het
Sorbs1 A C 19: 40,324,772 (GRCm38) I690S probably damaging Het
Sqle C A 15: 59,330,829 (GRCm38) A512D probably damaging Het
Tedc2 A C 17: 24,216,341 (GRCm38) L358R probably damaging Het
Tfr2 A G 5: 137,587,006 (GRCm38) S767G probably benign Het
Thoc5 A G 11: 4,904,133 (GRCm38) E27G probably damaging Het
Trappc8 A T 18: 20,874,688 (GRCm38) F123L probably damaging Het
Ube2cbp C T 9: 86,372,459 (GRCm38) G323D probably benign Het
Unc13c T A 9: 73,578,492 (GRCm38) H1642L probably damaging Het
Vmn1r10 A T 6: 57,114,317 (GRCm38) H298L probably benign Het
Xpo4 A T 14: 57,643,499 (GRCm38) Y26N probably benign Het
Zer1 A G 2: 30,107,667 (GRCm38) L409P probably damaging Het
Zfyve28 A T 5: 34,224,988 (GRCm38) L256Q probably damaging Het
Zgrf1 A G 3: 127,562,253 (GRCm38) E376G possibly damaging 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
R1168:Kif21a UTSW 15 90,993,753 (GRCm38) missense probably damaging 1.00
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
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 PCR Primer
(F):5'- CAAGGCTCATCGTAGAGATTCAAAATC -3'
(R):5'- CACAAAGACTGGGTGTGTGC -3'

Sequencing Primer
(F):5'- GACTATGAGTTCTAAGCCACCCTGG -3'
(R):5'- CTCTGGAATGTGGACACT -3'
Posted On 2017-02-28