Incidental Mutation 'IGL00539:Kif21a'
ID 13573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif21a
Ensembl Gene ENSMUSG00000022629
Gene Name kinesin family member 21A
Synonyms N-5 kinesin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00539
Quality Score
Status
Chromosome 15
Chromosomal Location 90817479-90934151 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90821504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1424 (T1424A)
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: T1485A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066911
Gene: ENSMUSG00000022629
AA Change: T1485A

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
AA Change: T1529A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000085985
Gene: ENSMUSG00000022629
AA Change: T1529A

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: T1529A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097877
Gene: ENSMUSG00000022629
AA Change: T1529A

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: T1424A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104910
Gene: ENSMUSG00000022629
AA Change: T1424A

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
AA Change: T1430A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000104911
Gene: ENSMUSG00000022629
AA Change: T1430A

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 benign
Transcript: ENSMUST00000230487
Coding Region Coverage
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak C A 19: 8,985,272 (GRCm39) D2185E possibly damaging Het
Camk2b A G 11: 5,922,310 (GRCm39) S560P probably damaging Het
Cdh13 C A 8: 120,039,245 (GRCm39) N562K possibly damaging Het
Cdhr4 A G 9: 107,876,744 (GRCm39) Y771C probably damaging Het
Ermap A G 4: 119,041,114 (GRCm39) S299P probably damaging Het
Fgd3 A G 13: 49,429,119 (GRCm39) probably benign Het
Fpr-rs4 T A 17: 18,242,188 (GRCm39) L65Q probably damaging Het
Hsph1 C T 5: 149,542,254 (GRCm39) R723H possibly damaging Het
Iqcb1 A G 16: 36,678,873 (GRCm39) K396E probably damaging Het
Mpdz T C 4: 81,279,588 (GRCm39) S700G possibly damaging Het
Mta3 G A 17: 84,070,412 (GRCm39) R39Q probably benign Het
Muc4 A T 16: 32,569,728 (GRCm39) T263S possibly damaging Het
Ncan G A 8: 70,567,921 (GRCm39) P64S probably benign Het
Pisd T C 5: 32,895,756 (GRCm39) I441V probably benign Het
Pla2g4f T C 2: 120,133,219 (GRCm39) H660R possibly damaging Het
Polq A G 16: 36,880,931 (GRCm39) T753A probably damaging Het
Ptchd4 C T 17: 42,627,817 (GRCm39) Q93* probably null Het
Sfpq T C 4: 126,917,481 (GRCm39) V437A possibly damaging Het
Slc18b1 G A 10: 23,700,659 (GRCm39) probably null Het
Taf1c C T 8: 120,328,067 (GRCm39) V277I possibly damaging Het
Tcf20 T A 15: 82,736,957 (GRCm39) Q1498L probably benign Het
Tet1 C A 10: 62,650,276 (GRCm39) C1644F probably damaging Het
Trmt5 T C 12: 73,331,693 (GRCm39) E121G possibly damaging Het
Wapl A G 14: 34,416,965 (GRCm39) D525G probably damaging Het
Ylpm1 A G 12: 85,075,728 (GRCm39) T360A possibly damaging Het
Zfp292 G A 4: 34,808,790 (GRCm39) P1418L probably damaging Het
Other mutations in Kif21a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06