Incidental Mutation 'R1703:Kif21a'
ID 189925
Institutional Source Beutler Lab
Gene Symbol Kif21a
Ensembl Gene ENSMUSG00000022629
Gene Name kinesin family member 21A
Synonyms N-5 kinesin
MMRRC Submission 039736-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1703 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 90817479-90934151 bp(-) (GRCm39)
Type of Mutation splice site (2199 bp from exon)
DNA Base Change (assembly) A to G at 90833250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000067205] [ENSMUST00000088614] [ENSMUST00000100304] [ENSMUST00000109287] [ENSMUST00000109288] [ENSMUST00000229801]
AlphaFold Q9QXL2
Predicted Effect probably benign
Transcript: ENSMUST00000067205
SMART Domains Protein: ENSMUSP00000066911
Gene: ENSMUSG00000022629

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 benign
Transcript: ENSMUST00000088614
SMART Domains Protein: ENSMUSP00000085985
Gene: ENSMUSG00000022629

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
SMART Domains Protein: ENSMUSP00000097877
Gene: ENSMUSG00000022629

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 benign
Transcript: ENSMUST00000109287
SMART Domains Protein: ENSMUSP00000104910
Gene: ENSMUSG00000022629

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 benign
Transcript: ENSMUST00000109288
SMART Domains Protein: ENSMUSP00000104911
Gene: ENSMUSG00000022629

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
Predicted Effect probably null
Transcript: ENSMUST00000230487
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency 99% (86/87)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,945,431 (GRCm39) Y401* probably null Het
4932415M13Rik C A 17: 54,032,065 (GRCm39) noncoding transcript Het
Abtb3 A G 10: 85,223,248 (GRCm39) D19G unknown Het
Acoxl T A 2: 127,820,692 (GRCm39) S81R probably damaging Het
Adamtsl4 A G 3: 95,584,924 (GRCm39) C915R probably damaging Het
Adgra3 C T 5: 50,164,117 (GRCm39) M287I probably benign Het
Afg1l T G 10: 42,276,395 (GRCm39) D250A probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Amfr T C 8: 94,700,871 (GRCm39) T530A probably benign Het
Ank2 C T 3: 126,723,415 (GRCm39) V971M probably damaging Het
App A G 16: 84,762,656 (GRCm39) S656P probably damaging Het
Arid5a T A 1: 36,358,656 (GRCm39) probably null Het
Asic5 T A 3: 81,907,029 (GRCm39) V60D possibly damaging Het
Atm G T 9: 53,412,000 (GRCm39) H1019N probably benign Het
Cep250 A G 2: 155,807,466 (GRCm39) K277R probably benign Het
Chrna7 C T 7: 62,749,255 (GRCm39) R409H probably damaging Het
Chrng A T 1: 87,138,628 (GRCm39) N419I possibly damaging Het
Ciao1 T C 2: 127,087,739 (GRCm39) S199G probably benign Het
Clstn2 A T 9: 97,340,290 (GRCm39) M694K possibly damaging Het
Cpeb2 A G 5: 43,391,181 (GRCm39) probably benign Het
Cyp2c69 T A 19: 39,864,810 (GRCm39) I223F probably benign Het
Dennd1b A T 1: 139,097,492 (GRCm39) probably null Het
Dnah17 A T 11: 117,917,575 (GRCm39) L4162Q probably damaging Het
Dnm1 T C 2: 32,213,463 (GRCm39) M506V probably benign Het
Ecsit A G 9: 21,986,107 (GRCm39) V173A probably damaging Het
Fam13b T C 18: 34,584,492 (GRCm39) probably null Het
Fgl2 T A 5: 21,577,730 (GRCm39) W6R possibly damaging Het
Galnt9 G A 5: 110,767,038 (GRCm39) R503H probably damaging Het
Gramd1a C T 7: 30,838,959 (GRCm39) V247M possibly damaging Het
Grip2 A T 6: 91,754,379 (GRCm39) I632N probably damaging Het
Hspg2 T C 4: 137,286,462 (GRCm39) V3627A probably damaging Het
Ipo8 T C 6: 148,691,390 (GRCm39) Y660C probably benign Het
Isg15 T C 4: 156,284,265 (GRCm39) R88G possibly damaging Het
Itgb5 T A 16: 33,730,870 (GRCm39) D388E probably benign Het
Jhy T C 9: 40,856,133 (GRCm39) Y118C probably damaging Het
Kalrn G A 16: 34,025,696 (GRCm39) T931M probably damaging Het
Lama2 A T 10: 27,142,667 (GRCm39) Y604N probably damaging Het
Lrp3 T G 7: 34,912,586 (GRCm39) S34R possibly damaging Het
Lrrc37 C T 11: 103,431,700 (GRCm39) V1372I probably benign Het
Lyn T C 4: 3,738,867 (GRCm39) probably null Het
Mroh8 C T 2: 157,113,896 (GRCm39) V132I probably benign Het
Mthfd1l T C 10: 4,098,093 (GRCm39) F977L probably damaging Het
Nol8 C T 13: 49,820,933 (GRCm39) T912M possibly damaging Het
Nrxn1 A T 17: 90,515,845 (GRCm39) N169K probably damaging Het
Oplah A G 15: 76,180,867 (GRCm39) Y1279H probably benign Het
Or10ag56 T C 2: 87,139,754 (GRCm39) V207A probably benign Het
Or4c101 T A 2: 88,390,599 (GRCm39) M262K possibly damaging Het
Pcsk5 T C 19: 17,729,458 (GRCm39) N129S probably benign Het
Pcyt2 G T 11: 120,503,894 (GRCm39) P185T probably benign Het
Pdlim2 A G 14: 70,411,784 (GRCm39) probably null Het
Pgs1 T C 11: 117,905,554 (GRCm39) probably benign Het
Qprt A G 7: 126,707,343 (GRCm39) V251A probably benign Het
Rasal2 A C 1: 156,985,170 (GRCm39) L834R probably damaging Het
Reg1 T C 6: 78,405,432 (GRCm39) C161R probably damaging Het
Rp1 T A 1: 4,415,392 (GRCm39) I1907F probably damaging Het
S1pr5 T C 9: 21,155,346 (GRCm39) D360G possibly damaging Het
Sart3 C A 5: 113,890,280 (GRCm39) V482F probably benign Het
Scarf2 A G 16: 17,620,713 (GRCm39) E127G probably damaging Het
Serinc5 T C 13: 92,825,305 (GRCm39) S245P probably damaging Het
Serpinc1 G T 1: 160,821,087 (GRCm39) R57L probably damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Sgca A T 11: 94,860,217 (GRCm39) L307M probably damaging Het
Slc7a9 C A 7: 35,154,000 (GRCm39) Q208K probably benign Het
Slfn10-ps C T 11: 82,920,869 (GRCm39) noncoding transcript Het
Spam1 A T 6: 24,796,256 (GRCm39) D69V probably damaging Het
Tanc1 A G 2: 59,673,365 (GRCm39) E1490G probably benign Het
Tbc1d22a G T 15: 86,123,416 (GRCm39) D150Y probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tlx1 A G 19: 45,144,443 (GRCm39) D55G possibly damaging Het
Tram2 G T 1: 21,074,458 (GRCm39) N241K probably damaging Het
Ttc23l T C 15: 10,523,744 (GRCm39) Y325C probably damaging Het
Ubac2 T A 14: 122,142,582 (GRCm39) S27T probably benign Het
Utrn G A 10: 12,603,473 (GRCm39) probably benign Het
Vnn3 A T 10: 23,741,828 (GRCm39) M378L probably benign Het
Vps18 T A 2: 119,119,538 (GRCm39) D6E probably benign Het
Xkr5 T A 8: 18,989,134 (GRCm39) I253F probably benign Het
Yeats4 A T 10: 117,051,628 (GRCm39) C210S probably benign Het
Zdhhc20 A G 14: 58,076,545 (GRCm39) probably null 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
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
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'- GGCAGCAACAGACAGGCTTCTAAG -3'
(R):5'- TGCTGATTTCGGGTGCAAACAGG -3'

Sequencing Primer
(F):5'- GCAACAGACAGGCTTCTAAGTTTTC -3'
(R):5'- TTTCGGGTGCAAACAGGAAAAC -3'
Posted On 2014-05-14