Incidental Mutation 'R1996:Kif21a'
ID 225782
Institutional Source Beutler Lab
Gene Symbol Kif21a
Ensembl Gene ENSMUSG00000022629
Gene Name kinesin family member 21A
Synonyms N-5 kinesin
MMRRC Submission 040006-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1996 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 90817479-90934151 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 90878574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 235 (C235*)
Ref Sequence ENSEMBL: ENSMUSP00000104911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067205] [ENSMUST00000088614] [ENSMUST00000100304] [ENSMUST00000109287] [ENSMUST00000109288]
AlphaFold Q9QXL2
Predicted Effect probably null
Transcript: ENSMUST00000067205
AA Change: C235*
SMART Domains Protein: ENSMUSP00000066911
Gene: ENSMUSG00000022629
AA Change: C235*

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 null
Transcript: ENSMUST00000088614
AA Change: C235*
SMART Domains Protein: ENSMUSP00000085985
Gene: ENSMUSG00000022629
AA Change: C235*

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 null
Transcript: ENSMUST00000100304
AA Change: C235*
SMART Domains Protein: ENSMUSP00000097877
Gene: ENSMUSG00000022629
AA Change: C235*

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 null
Transcript: ENSMUST00000109287
AA Change: C235*
SMART Domains Protein: ENSMUSP00000104910
Gene: ENSMUSG00000022629
AA Change: C235*

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 null
Transcript: ENSMUST00000109288
AA Change: C235*
SMART Domains Protein: ENSMUSP00000104911
Gene: ENSMUSG00000022629
AA Change: C235*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 99% (84/85)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,646,556 (GRCm39) W1069R probably damaging Het
Aaas C T 15: 102,248,494 (GRCm39) V241I probably benign Het
Abca3 A G 17: 24,606,506 (GRCm39) E787G probably damaging Het
Abi3bp A T 16: 56,491,720 (GRCm39) E582D possibly damaging Het
Adam21 A G 12: 81,606,376 (GRCm39) M462T possibly damaging Het
Alox12e T C 11: 70,207,034 (GRCm39) T591A probably benign Het
Ankmy2 T C 12: 36,243,796 (GRCm39) M337T probably benign Het
Antxrl A G 14: 33,797,786 (GRCm39) N587S probably benign Het
Apol6 T A 15: 76,934,956 (GRCm39) I75N probably benign Het
Atad2b A T 12: 5,040,883 (GRCm39) H184L probably benign Het
Atf6b A T 17: 34,871,961 (GRCm39) probably null Het
B3gnt4 G A 5: 123,649,402 (GRCm39) V256I probably damaging Het
BC034090 C T 1: 155,097,340 (GRCm39) probably benign Het
Bend4 C A 5: 67,557,527 (GRCm39) V430F probably damaging Het
Camkv A G 9: 107,824,320 (GRCm39) D244G probably damaging Het
Caps2 T A 10: 112,039,908 (GRCm39) L450Q probably damaging Het
Ccr1 T A 9: 123,763,551 (GRCm39) K326N probably benign Het
Cep135 T C 5: 76,780,113 (GRCm39) I815T probably benign Het
Chchd4 A G 6: 91,442,116 (GRCm39) Y101H probably damaging Het
Copb1 G C 7: 113,831,438 (GRCm39) A570G probably benign Het
Cpsf2 C A 12: 101,964,867 (GRCm39) T505K probably benign Het
Cwf19l2 A G 9: 3,417,947 (GRCm39) R136G probably benign Het
Daxx A G 17: 34,132,585 (GRCm39) T572A possibly damaging Het
Etaa1 C A 11: 17,902,671 (GRCm39) D89Y probably damaging Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fchsd2 T C 7: 100,927,660 (GRCm39) F701L probably benign Het
Fstl5 A T 3: 76,615,141 (GRCm39) H734L probably benign Het
Gabbr1 T A 17: 37,380,112 (GRCm39) W584R probably damaging Het
Galc T C 12: 98,218,285 (GRCm39) D189G probably damaging Het
Gm9979 T C 13: 40,859,228 (GRCm39) noncoding transcript Het
Grin2b T C 6: 136,021,209 (GRCm39) S31G possibly damaging Het
Gtf2ird1 T C 5: 134,405,740 (GRCm39) probably benign Het
Hoxc4 T C 15: 102,944,183 (GRCm39) I187T probably damaging Het
Hsd3b6 A T 3: 98,713,597 (GRCm39) I234N probably damaging Het
Ifit3b T C 19: 34,588,877 (GRCm39) C18R probably damaging Het
Igdcc4 T A 9: 65,029,101 (GRCm39) V246E probably damaging Het
Il1rap A T 16: 26,541,243 (GRCm39) T495S probably benign Het
Kctd19 T C 8: 106,121,932 (GRCm39) E205G probably null Het
Krt16 A T 11: 100,139,614 (GRCm39) S35T unknown Het
Lamc2 T C 1: 153,030,216 (GRCm39) D142G possibly damaging Het
Larp4 G T 15: 99,882,844 (GRCm39) W22L probably damaging Het
Ldlrad1 C T 4: 107,072,158 (GRCm39) R127* probably null Het
Mamdc2 G A 19: 23,341,289 (GRCm39) Q229* probably null Het
Mbtd1 CT CTT 11: 93,823,222 (GRCm39) probably null Het
Msln T A 17: 25,973,193 (GRCm39) M1L possibly damaging Het
Mtch2 T C 2: 90,677,665 (GRCm39) V8A possibly damaging Het
Nav3 A T 10: 109,689,262 (GRCm39) N338K probably damaging Het
Or10x4 T C 1: 174,218,983 (GRCm39) M116T probably damaging Het
Or51a39 A G 7: 102,362,999 (GRCm39) L207P probably damaging Het
Or6c5 C A 10: 129,074,298 (GRCm39) N93K possibly damaging Het
Otof A G 5: 30,578,381 (GRCm39) V89A probably benign Het
Phka2 T C X: 159,324,411 (GRCm39) I255T probably benign Het
Pias2 T C 18: 77,216,759 (GRCm39) probably null Het
Pja2 T A 17: 64,594,639 (GRCm39) probably null Het
Plxnb2 C T 15: 89,042,971 (GRCm39) V1473I probably benign Het
Pnpt1 T A 11: 29,091,679 (GRCm39) D363E probably benign Het
Prdm5 A G 6: 65,913,072 (GRCm39) Y207C probably damaging Het
Rexo5 T A 7: 119,423,080 (GRCm39) V304E probably damaging Het
Robo1 G T 16: 72,767,067 (GRCm39) R413L probably benign Het
Rsf1 G A 7: 97,313,839 (GRCm39) E864K probably damaging Het
Scap C T 9: 110,202,039 (GRCm39) probably benign Het
Scn8a T A 15: 100,922,260 (GRCm39) M1311K probably damaging Het
Slc28a2 A T 2: 122,286,043 (GRCm39) I460F probably damaging Het
Smco1 A G 16: 32,092,730 (GRCm39) R134G probably benign Het
Spopfm1 A T 3: 94,173,018 (GRCm39) M9L probably benign Het
Sspo A G 6: 48,452,424 (GRCm39) E2651G possibly damaging Het
Stab2 T C 10: 86,838,895 (GRCm39) N57S probably damaging Het
Tenm3 C A 8: 48,681,703 (GRCm39) Q2642H probably damaging Het
Thsd7b G T 1: 129,686,188 (GRCm39) E577* probably null Het
Tlr3 A G 8: 45,850,734 (GRCm39) V721A probably benign Het
Tnik A G 3: 28,719,829 (GRCm39) I1226V probably damaging Het
Traf3 A G 12: 111,227,095 (GRCm39) K328E probably benign Het
Tyw1 T A 5: 130,291,652 (GRCm39) probably benign Het
Vmn1r213 T G 13: 23,196,473 (GRCm39) V352G probably benign Het
Vmn2r111 T C 17: 22,767,062 (GRCm39) I812V probably benign Het
Vmn2r26 A G 6: 124,038,144 (GRCm39) N573S probably damaging Het
Vmn2r45 G A 7: 8,475,024 (GRCm39) T668I probably damaging Het
Zbtb20 T A 16: 43,430,443 (GRCm39) V318E probably damaging Het
Zc2hc1c A G 12: 85,343,434 (GRCm39) R524G probably benign Het
Zc3h18 C G 8: 123,134,126 (GRCm39) probably benign Het
Zfp618 T C 4: 63,049,452 (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
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
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'- AGTCTTACACAATTGGTCAGCTTCC -3'
(R):5'- TCAGCACAGTGGGTTTTAGCC -3'

Sequencing Primer
(F):5'- ACTGGATCAAACGCCTCT -3'
(R):5'- GGGTTTTAGCCGGCAGC -3'
Posted On 2014-08-25