Incidental Mutation 'R0052:Kif21a'
ID 33067
Institutional Source Beutler Lab
Gene Symbol Kif21a
Ensembl Gene ENSMUSG00000022629
Gene Name kinesin family member 21A
Synonyms N-5 kinesin
MMRRC Submission 038346-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0052 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 90817479-90934151 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90855060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 700 (E700G)
Ref Sequence ENSEMBL: ENSMUSP00000104910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067205] [ENSMUST00000088614] [ENSMUST00000100304] [ENSMUST00000109287] [ENSMUST00000109288] [ENSMUST00000229801]
AlphaFold Q9QXL2
Predicted Effect probably benign
Transcript: ENSMUST00000067205
AA Change: E700G

PolyPhen 2 Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000066911
Gene: ENSMUSG00000022629
AA Change: E700G

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: E713G

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000085985
Gene: ENSMUSG00000022629
AA Change: E713G

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: E713G

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097877
Gene: ENSMUSG00000022629
AA Change: E713G

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: E700G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104910
Gene: ENSMUSG00000022629
AA Change: E700G

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: E700G

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104911
Gene: ENSMUSG00000022629
AA Change: E700G

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: ENSMUST00000229801
Meta Mutation Damage Score 0.1460 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency 97% (65/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apba1 T C 19: 23,893,315 (GRCm39) S438P possibly damaging Het
Atosa A G 9: 74,926,265 (GRCm39) probably benign Het
Atp2a1 A G 7: 126,057,069 (GRCm39) probably benign Het
Axin2 T C 11: 108,840,096 (GRCm39) Y735H probably damaging Het
Bicd2 T A 13: 49,528,790 (GRCm39) L184Q probably damaging Het
Bub1 G A 2: 127,650,959 (GRCm39) T618I probably benign Het
Catsperg2 A G 7: 29,424,445 (GRCm39) probably benign Het
Ccdc73 T A 2: 104,759,915 (GRCm39) probably benign Het
Crybg3 A T 16: 59,386,019 (GRCm39) probably benign Het
Dsp A G 13: 38,381,340 (GRCm39) D2096G possibly damaging Het
Eef2 C CN 10: 81,014,602 (GRCm39) probably null Het
Elp3 A G 14: 65,768,975 (GRCm39) *548Q probably null Het
Eno4 A G 19: 58,956,985 (GRCm39) D357G probably damaging Het
Fcrl2 A T 3: 87,164,085 (GRCm39) I348N possibly damaging Het
Fgl2 A T 5: 21,580,347 (GRCm39) S230C probably damaging Het
Ginm1 T A 10: 7,655,070 (GRCm39) E57D possibly damaging Het
Gtf3c1 A T 7: 125,267,143 (GRCm39) probably null Het
Herc1 G T 9: 66,307,438 (GRCm39) G1044V probably damaging Het
Hmcn1 G A 1: 150,553,157 (GRCm39) T2511M probably damaging Het
Iba57 C T 11: 59,049,727 (GRCm39) A207T probably benign Het
Itga9 T A 9: 118,465,617 (GRCm39) I157N probably damaging Het
Kalrn A G 16: 34,177,541 (GRCm39) L208P probably damaging Het
Kcnj10 A G 1: 172,196,491 (GRCm39) T2A probably benign Het
Kdm1b T A 13: 47,217,593 (GRCm39) C351S probably damaging Het
Mmd C T 11: 90,150,824 (GRCm39) probably benign Het
Mocs3 C T 2: 168,073,602 (GRCm39) P350S probably benign Het
Morn3 T C 5: 123,184,726 (GRCm39) Y38C probably damaging Het
Nacc1 A T 8: 85,402,854 (GRCm39) V313D probably benign Het
Nbeal1 T A 1: 60,267,771 (GRCm39) probably benign Het
Neb T C 2: 52,163,992 (GRCm39) K1989E possibly damaging Het
Nlrp3 C T 11: 59,455,954 (GRCm39) R917* probably null Het
Nlrp4b T A 7: 10,459,889 (GRCm39) Y463* probably null Het
Perm1 A T 4: 156,302,572 (GRCm39) D372V probably damaging Het
Phf3 T C 1: 30,847,848 (GRCm39) T1232A probably damaging Het
Phldb3 G A 7: 24,312,004 (GRCm39) R106Q probably benign Het
Pld4 T A 12: 112,734,291 (GRCm39) F386I probably benign Het
Prex2 T A 1: 11,230,380 (GRCm39) L802Q probably damaging Het
Psd3 A G 8: 68,335,631 (GRCm39) probably null Het
Ralgds T A 2: 28,434,400 (GRCm39) probably null Het
Rmdn2 A G 17: 79,957,760 (GRCm39) E16G probably damaging Het
Rnf111 A T 9: 70,383,671 (GRCm39) S87R probably benign Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc9c1 A G 16: 45,427,219 (GRCm39) probably benign Het
Slco3a1 A T 7: 74,154,074 (GRCm39) I166N probably benign Het
Snx5 A T 2: 144,101,112 (GRCm39) probably null Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
St8sia2 G T 7: 73,593,038 (GRCm39) Y339* probably null Het
St8sia2 A T 7: 73,621,700 (GRCm39) W86R probably damaging Het
Stk33 A G 7: 108,878,876 (GRCm39) L491P possibly damaging Het
Sult2a7 T C 7: 14,199,133 (GRCm39) Y298C probably damaging Het
Tdo2 T A 3: 81,874,332 (GRCm39) N210I probably benign Het
Thada A T 17: 84,762,586 (GRCm39) N104K probably damaging Het
Timm8b A T 9: 50,516,330 (GRCm39) D61V possibly damaging Het
Tshz1 G A 18: 84,033,070 (GRCm39) T446I possibly damaging Het
Ubap2l T C 3: 89,946,235 (GRCm39) N123S possibly damaging Het
Vmn1r48 T C 6: 90,013,246 (GRCm39) E193G possibly damaging Het
Vmn1r69 C T 7: 10,314,327 (GRCm39) V135I probably benign Het
Vmn2r103 G T 17: 20,031,903 (GRCm39) G559V probably benign Het
Vmn2r26 T A 6: 124,038,992 (GRCm39) *856R probably null Het
Vmn2r88 A G 14: 51,656,157 (GRCm39) I798V possibly damaging Het
Vsir C T 10: 60,193,861 (GRCm39) A108V probably benign Het
Zfp14 G T 7: 29,737,753 (GRCm39) Q411K probably damaging Het
Zfp236 A T 18: 82,657,457 (GRCm39) M762K probably damaging Het
Zfp462 G A 4: 55,011,762 (GRCm39) G1243S probably benign Het
Other mutations in Kif21a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Kif21a APN 15 90,821,504 (GRCm39) missense probably damaging 1.00
IGL01476:Kif21a APN 15 90,828,067 (GRCm39) missense possibly damaging 0.66
IGL01617:Kif21a APN 15 90,879,840 (GRCm39) splice site probably benign
IGL01736:Kif21a APN 15 90,843,948 (GRCm39) missense possibly damaging 0.59
IGL01923:Kif21a APN 15 90,840,633 (GRCm39) missense probably damaging 0.96
IGL01985:Kif21a APN 15 90,875,970 (GRCm39) missense probably damaging 1.00
IGL02304:Kif21a APN 15 90,849,738 (GRCm39) missense probably damaging 1.00
IGL02589:Kif21a APN 15 90,869,489 (GRCm39) missense probably damaging 1.00
IGL03115:Kif21a APN 15 90,869,598 (GRCm39) missense probably damaging 0.99
IGL03211:Kif21a APN 15 90,882,166 (GRCm39) missense possibly damaging 0.73
IGL03372:Kif21a APN 15 90,840,579 (GRCm39) missense probably benign 0.38
reflex UTSW 15 90,852,561 (GRCm39) missense probably null 1.00
R0052:Kif21a UTSW 15 90,855,060 (GRCm39) missense probably damaging 0.98
R0304:Kif21a UTSW 15 90,860,724 (GRCm39) splice site probably null
R0378:Kif21a UTSW 15 90,853,977 (GRCm39) splice site probably null
R0420:Kif21a UTSW 15 90,852,257 (GRCm39) unclassified probably benign
R0536:Kif21a UTSW 15 90,843,886 (GRCm39) splice site probably benign
R0826:Kif21a UTSW 15 90,881,744 (GRCm39) critical splice donor site probably null
R0971:Kif21a UTSW 15 90,824,784 (GRCm39) missense possibly damaging 0.46
R1052:Kif21a UTSW 15 90,819,853 (GRCm39) missense probably benign 0.17
R1168:Kif21a UTSW 15 90,877,956 (GRCm39) missense probably damaging 1.00
R1324:Kif21a UTSW 15 90,832,525 (GRCm39) critical splice donor site probably null
R1471:Kif21a UTSW 15 90,840,622 (GRCm39) missense probably benign 0.04
R1625:Kif21a UTSW 15 90,826,378 (GRCm39) missense probably damaging 1.00
R1636:Kif21a UTSW 15 90,869,008 (GRCm39) splice site probably benign
R1647:Kif21a UTSW 15 90,878,570 (GRCm39) missense probably damaging 1.00
R1648:Kif21a UTSW 15 90,878,570 (GRCm39) missense probably damaging 1.00
R1699:Kif21a UTSW 15 90,843,946 (GRCm39) missense probably damaging 0.99
R1703:Kif21a UTSW 15 90,833,250 (GRCm39) splice site probably null
R1795:Kif21a UTSW 15 90,856,930 (GRCm39) splice site probably null
R1812:Kif21a UTSW 15 90,855,969 (GRCm39) missense possibly damaging 0.63
R1959:Kif21a UTSW 15 90,855,051 (GRCm39) missense probably damaging 0.99
R1960:Kif21a UTSW 15 90,855,051 (GRCm39) missense probably damaging 0.99
R1961:Kif21a UTSW 15 90,855,051 (GRCm39) missense probably damaging 0.99
R1996:Kif21a UTSW 15 90,878,574 (GRCm39) nonsense probably null
R2230:Kif21a UTSW 15 90,869,565 (GRCm39) nonsense probably null
R2231:Kif21a UTSW 15 90,869,565 (GRCm39) nonsense probably null
R2232:Kif21a UTSW 15 90,869,565 (GRCm39) nonsense probably null
R2424:Kif21a UTSW 15 90,855,399 (GRCm39) missense probably damaging 1.00
R2429:Kif21a UTSW 15 90,882,208 (GRCm39) missense probably damaging 1.00
R2513:Kif21a UTSW 15 90,878,594 (GRCm39) missense possibly damaging 0.96
R2846:Kif21a UTSW 15 90,818,667 (GRCm39) missense probably benign
R3027:Kif21a UTSW 15 90,856,845 (GRCm39) missense probably damaging 0.99
R3624:Kif21a UTSW 15 90,849,798 (GRCm39) missense probably damaging 0.99
R3820:Kif21a UTSW 15 90,852,277 (GRCm39) missense probably benign 0.17
R3923:Kif21a UTSW 15 90,821,497 (GRCm39) missense possibly damaging 0.46
R3962:Kif21a UTSW 15 90,869,612 (GRCm39) missense probably damaging 1.00
R4355:Kif21a UTSW 15 90,855,036 (GRCm39) missense probably benign 0.17
R4516:Kif21a UTSW 15 90,855,345 (GRCm39) missense probably benign 0.38
R4530:Kif21a UTSW 15 90,852,292 (GRCm39) splice site probably null
R4612:Kif21a UTSW 15 90,852,426 (GRCm39) splice site probably null
R4674:Kif21a UTSW 15 90,824,748 (GRCm39) missense possibly damaging 0.66
R4675:Kif21a UTSW 15 90,824,748 (GRCm39) missense possibly damaging 0.66
R4698:Kif21a UTSW 15 90,840,508 (GRCm39) missense possibly damaging 0.85
R4712:Kif21a UTSW 15 90,868,958 (GRCm39) missense probably damaging 1.00
R4955:Kif21a UTSW 15 90,821,393 (GRCm39) missense probably damaging 1.00
R4974:Kif21a UTSW 15 90,833,213 (GRCm39) missense probably benign 0.16
R5034:Kif21a UTSW 15 90,852,561 (GRCm39) missense probably null 1.00
R5165:Kif21a UTSW 15 90,840,579 (GRCm39) missense probably benign 0.38
R5464:Kif21a UTSW 15 90,878,058 (GRCm39) missense probably damaging 1.00
R5541:Kif21a UTSW 15 90,852,316 (GRCm39) missense probably damaging 0.99
R5757:Kif21a UTSW 15 90,835,548 (GRCm39) missense probably damaging 1.00
R5936:Kif21a UTSW 15 90,819,850 (GRCm39) missense possibly damaging 0.95
R5976:Kif21a UTSW 15 90,820,015 (GRCm39) missense probably damaging 1.00
R6074:Kif21a UTSW 15 90,865,095 (GRCm39) missense probably benign
R6638:Kif21a UTSW 15 90,850,610 (GRCm39) missense probably damaging 1.00
R6723:Kif21a UTSW 15 90,824,649 (GRCm39) missense probably damaging 0.97
R6785:Kif21a UTSW 15 90,819,933 (GRCm39) missense probably damaging 1.00
R6977:Kif21a UTSW 15 90,865,040 (GRCm39) missense probably damaging 1.00
R7058:Kif21a UTSW 15 90,833,106 (GRCm39) splice site probably null
R7147:Kif21a UTSW 15 90,865,086 (GRCm39) missense probably benign 0.13
R7290:Kif21a UTSW 15 90,851,432 (GRCm39) nonsense probably null
R7438:Kif21a UTSW 15 90,877,999 (GRCm39) missense probably benign 0.37
R7593:Kif21a UTSW 15 90,828,064 (GRCm39) missense probably benign 0.03
R7661:Kif21a UTSW 15 90,865,122 (GRCm39) missense possibly damaging 0.89
R7891:Kif21a UTSW 15 90,840,517 (GRCm39) missense probably damaging 1.00
R8137:Kif21a UTSW 15 90,852,645 (GRCm39) missense probably benign
R8182:Kif21a UTSW 15 90,819,964 (GRCm39) missense possibly damaging 0.77
R8303:Kif21a UTSW 15 90,855,399 (GRCm39) missense probably damaging 0.99
R8388:Kif21a UTSW 15 90,843,327 (GRCm39) missense possibly damaging 0.60
R8867:Kif21a UTSW 15 90,852,382 (GRCm39) missense probably damaging 0.96
R8921:Kif21a UTSW 15 90,855,930 (GRCm39) missense probably benign 0.04
R8984:Kif21a UTSW 15 90,840,559 (GRCm39) missense probably benign 0.00
R9024:Kif21a UTSW 15 90,821,399 (GRCm39) nonsense probably null
R9254:Kif21a UTSW 15 90,854,030 (GRCm39) missense probably damaging 0.99
R9366:Kif21a UTSW 15 90,843,951 (GRCm39) missense probably damaging 0.99
R9379:Kif21a UTSW 15 90,854,030 (GRCm39) missense probably damaging 0.99
R9393:Kif21a UTSW 15 90,853,981 (GRCm39) missense probably benign 0.00
R9518:Kif21a UTSW 15 90,840,676 (GRCm39) missense probably damaging 1.00
R9712:Kif21a UTSW 15 90,879,715 (GRCm39) missense probably benign 0.13
R9712:Kif21a UTSW 15 90,869,528 (GRCm39) missense probably damaging 0.98
R9721:Kif21a UTSW 15 90,855,330 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCTCTGTTCCAAGACATCCAGCC -3'
(R):5'- GAGGAGAAGCTGATGATGCTCCAAC -3'

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