Incidental Mutation 'R5541:Kif21a'
ID 435989
Institutional Source Beutler Lab
Gene Symbol Kif21a
Ensembl Gene ENSMUSG00000022629
Gene Name kinesin family member 21A
Synonyms N-5 kinesin
MMRRC Submission 043099-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5541 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 90817479-90934151 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90852316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 924 (M924T)
Ref Sequence ENSEMBL: ENSMUSP00000066911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067205] [ENSMUST00000088614] [ENSMUST00000100304] [ENSMUST00000109287] [ENSMUST00000109288] [ENSMUST00000229801]
AlphaFold Q9QXL2
Predicted Effect probably damaging
Transcript: ENSMUST00000067205
AA Change: M924T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066911
Gene: ENSMUSG00000022629
AA Change: M924T

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: M937T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000085985
Gene: ENSMUSG00000022629
AA Change: M937T

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 possibly damaging
Transcript: ENSMUST00000100304
AA Change: M937T

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097877
Gene: ENSMUSG00000022629
AA Change: M937T

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: M924T

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104910
Gene: ENSMUSG00000022629
AA Change: M924T

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: M924T

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104911
Gene: ENSMUSG00000022629
AA Change: M924T

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 0.1946 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency 100% (63/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,061,808 (GRCm39) K86R probably benign Het
Abca13 T C 11: 9,241,545 (GRCm39) V1136A probably benign Het
Arfgap2 G A 2: 91,106,114 (GRCm39) R530H probably benign Het
Arhgap30 T C 1: 171,231,707 (GRCm39) probably null Het
Asb7 T C 7: 66,329,017 (GRCm39) R8G probably benign Het
Bod1l T C 5: 41,949,276 (GRCm39) N2949D probably benign Het
Ccdc86 T C 19: 10,925,918 (GRCm39) E227G probably damaging Het
Cercam A G 2: 29,765,641 (GRCm39) D261G probably benign Het
Chd9 A T 8: 91,778,132 (GRCm39) E2714D probably benign Het
Dcp1a T A 14: 30,224,796 (GRCm39) S126R probably damaging Het
Defa17 T A 8: 22,146,565 (GRCm39) C64S probably damaging Het
Depdc5 A T 5: 33,021,973 (GRCm39) probably benign Het
Dhx29 A G 13: 113,076,908 (GRCm39) N259S possibly damaging Het
Dnah6 A T 6: 73,169,971 (GRCm39) L323Q possibly damaging Het
Dnah9 T C 11: 66,036,162 (GRCm39) Y416C probably damaging Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Fbxw15 T G 9: 109,394,498 (GRCm39) I106L probably benign Het
Flacc1 A G 1: 58,697,588 (GRCm39) M384T probably benign Het
Gm10610 A G 7: 83,198,614 (GRCm39) noncoding transcript Het
Gpr22 A G 12: 31,759,348 (GRCm39) F258S probably damaging Het
Grip1 A T 10: 119,908,623 (GRCm39) I618F probably damaging Het
Hspg2 C T 4: 137,247,862 (GRCm39) T1233I probably damaging Het
Hspg2 C A 4: 137,270,136 (GRCm39) Q2365K probably benign Het
Intu A G 3: 40,647,017 (GRCm39) probably null Het
Kdm1b T C 13: 47,232,672 (GRCm39) M714T probably damaging Het
Klb A T 5: 65,536,577 (GRCm39) M636L probably benign Het
Klrb1a G A 6: 128,586,699 (GRCm39) H219Y probably benign Het
Macroh2a2 T C 10: 61,583,496 (GRCm39) I215V probably benign Het
Marchf10 C T 11: 105,280,957 (GRCm39) D443N probably damaging Het
Nos1 A G 5: 118,043,459 (GRCm39) E578G probably damaging Het
Or8b39 T C 9: 37,996,419 (GRCm39) C96R probably damaging Het
Or9i1 T C 19: 13,839,328 (GRCm39) I57T probably benign Het
Pard3b A G 1: 61,678,502 (GRCm39) Y34C probably damaging Het
Pcdh17 T A 14: 84,684,856 (GRCm39) V441E probably damaging Het
Pde6g A T 11: 120,338,998 (GRCm39) I64N probably damaging Het
Pdia4 C T 6: 47,773,571 (GRCm39) V593M probably damaging Het
Pnn T G 12: 59,118,716 (GRCm39) V433G possibly damaging Het
Rbak G A 5: 143,159,745 (GRCm39) S436F probably damaging Het
Rpl11 A G 4: 135,780,043 (GRCm39) probably benign Het
Ryr1 G T 7: 28,785,610 (GRCm39) Q1701K probably damaging Het
Scn1a T A 2: 66,154,977 (GRCm39) T661S probably benign Het
Smg1 T A 7: 117,756,386 (GRCm39) probably benign Het
St8sia2 T C 7: 73,616,648 (GRCm39) D109G probably benign Het
Stk-ps1 T A 17: 36,709,105 (GRCm39) noncoding transcript Het
Stxbp3-ps C T 19: 9,535,334 (GRCm39) noncoding transcript Het
Taf1d T A 9: 15,220,146 (GRCm39) F132I probably damaging Het
Tfap2b A G 1: 19,284,250 (GRCm39) S35G possibly damaging Het
Tnk2 C T 16: 32,488,341 (GRCm39) T198I probably benign Het
Trappc2b T C 11: 51,576,796 (GRCm39) H34R probably benign Het
Ube2q2 T A 9: 55,099,163 (GRCm39) V168E possibly damaging Het
Ucma A G 2: 4,986,141 (GRCm39) R105G probably benign Het
Vmn2r97 C T 17: 19,148,617 (GRCm39) Q171* probably null Het
Wapl T C 14: 34,452,619 (GRCm39) probably null Het
Zfand4 T A 6: 116,291,256 (GRCm39) C397S possibly damaging Het
Zfhx3 A G 8: 109,675,583 (GRCm39) N2211S probably damaging Het
Zfp143 G T 7: 109,669,687 (GRCm39) G39C probably benign Het
Zfp568 T A 7: 29,722,301 (GRCm39) D414E possibly damaging Het
Zfp574 C T 7: 24,781,375 (GRCm39) A799V probably damaging 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
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
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'- TCCAAGAAACAACTGTGGGGC -3'
(R):5'- ATGACATTATTGGGTGTGTGCAATC -3'

Sequencing Primer
(F):5'- TAAATGCTTGCCTGAAACTGGGC -3'
(R):5'- TATTGGGTGTGTGCAATCAAAGAAAG -3'
Posted On 2016-10-24