Incidental Mutation 'R7327:Kif21b'
ID 568966
Institutional Source Beutler Lab
Gene Symbol Kif21b
Ensembl Gene ENSMUSG00000041642
Gene Name kinesin family member 21B
Synonyms 2610511N21Rik, N-5 kinesin
MMRRC Submission 045420-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R7327 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 136059127-136105736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136087387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 901 (Q901R)
Ref Sequence ENSEMBL: ENSMUSP00000074661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075164] [ENSMUST00000130864] [ENSMUST00000171381]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000075164
AA Change: Q901R

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074661
Gene: ENSMUSG00000041642
AA Change: Q901R

DomainStartEndE-ValueType
KISc 6 379 6.39e-159 SMART
Blast:KISc 469 543 1e-14 BLAST
low complexity region 578 628 N/A INTRINSIC
coiled coil region 632 825 N/A INTRINSIC
low complexity region 847 866 N/A INTRINSIC
coiled coil region 931 991 N/A INTRINSIC
low complexity region 1109 1123 N/A INTRINSIC
low complexity region 1239 1249 N/A INTRINSIC
low complexity region 1266 1279 N/A INTRINSIC
WD40 1299 1336 2.89e-5 SMART
WD40 1339 1377 5.69e-4 SMART
WD40 1404 1441 6.42e-1 SMART
WD40 1444 1486 1.5e-3 SMART
WD40 1494 1532 4.8e-2 SMART
WD40 1535 1575 1.55e-5 SMART
WD40 1578 1615 3.81e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000130864
AA Change: Q901R

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114297
Gene: ENSMUSG00000041642
AA Change: Q901R

DomainStartEndE-ValueType
KISc 6 379 6.39e-159 SMART
Blast:KISc 469 543 1e-14 BLAST
low complexity region 578 628 N/A INTRINSIC
coiled coil region 632 825 N/A INTRINSIC
low complexity region 847 866 N/A INTRINSIC
coiled coil region 931 991 N/A INTRINSIC
low complexity region 1109 1123 N/A INTRINSIC
low complexity region 1239 1249 N/A INTRINSIC
low complexity region 1266 1279 N/A INTRINSIC
WD40 1299 1336 2.89e-5 SMART
WD40 1339 1377 5.69e-4 SMART
WD40 1404 1441 6.42e-1 SMART
WD40 1444 1486 1.5e-3 SMART
WD40 1494 1532 4.8e-2 SMART
WD40 1535 1575 1.55e-5 SMART
WD40 1578 1615 5.1e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171381
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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 kinesin superfamily. Kinesins are ATP-dependent microtubule-based motor proteins that are involved in the intracellular transport of membranous organelles. Single nucleotide polymorphisms in this gene are associated with inflammatory bowel disease and multiple sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous KO reduces dendrite branching and spine density as a result of reduced microtubule growth, resulting in impaired spatial learning and cued conditioning behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,367,430 (GRCm39) T3I probably benign Het
Ahi1 T A 10: 20,862,976 (GRCm39) V717E probably damaging Het
Anapc4 A G 5: 53,002,672 (GRCm39) T238A probably damaging Het
Arhgap27 A T 11: 103,251,367 (GRCm39) C120* probably null Het
Bdp1 A T 13: 100,178,040 (GRCm39) V1943D probably damaging Het
Cdc14b A G 13: 64,373,461 (GRCm39) V141A probably damaging Het
Cfap46 G T 7: 139,215,062 (GRCm39) probably null Het
Cgnl1 C A 9: 71,633,165 (GRCm39) R62L possibly damaging Het
Chaf1a A G 17: 56,369,573 (GRCm39) S522G probably benign Het
Cox19 A G 5: 139,328,402 (GRCm39) F37S probably damaging Het
Csmd1 G A 8: 16,108,721 (GRCm39) S1894L probably damaging Het
Cyp4a12a A T 4: 115,184,756 (GRCm39) R346W probably damaging Het
Dip2a A C 10: 76,108,396 (GRCm39) C1315G probably benign Het
Dmxl2 A C 9: 54,308,869 (GRCm39) W1961G probably damaging Het
Dst T C 1: 34,240,486 (GRCm39) L1945P probably damaging Het
Efr3a A G 15: 65,691,627 (GRCm39) S92G probably damaging Het
Ep300 C T 15: 81,511,515 (GRCm39) T865I unknown Het
Ercc6 A G 14: 32,248,361 (GRCm39) E304G probably benign Het
Filip1l A C 16: 57,391,300 (GRCm39) E629D probably damaging Het
Frem1 G A 4: 82,938,992 (GRCm39) T30I possibly damaging Het
Glb1 T C 9: 114,246,126 (GRCm39) F59S probably benign Het
Gli3 T C 13: 15,900,144 (GRCm39) L1177P probably benign Het
Gpatch2l A G 12: 86,303,646 (GRCm39) T223A probably damaging Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hmcn1 A T 1: 150,479,565 (GRCm39) M4633K probably benign Het
Hoxc8 T A 15: 102,899,542 (GRCm39) Y111N probably damaging Het
Ifi207 A G 1: 173,556,581 (GRCm39) L726P probably benign Het
Iqcn T A 8: 71,169,453 (GRCm39) M1181K possibly damaging Het
Iqgap2 T A 13: 95,772,163 (GRCm39) M1339L probably benign Het
Krtap4-8 C A 11: 99,671,234 (GRCm39) C79F unknown Het
Ldb3 T C 14: 34,293,759 (GRCm39) N155S probably damaging Het
Mad2l1 T A 6: 66,516,794 (GRCm39) V162E probably benign Het
Map7 T A 10: 20,109,208 (GRCm39) V87E unknown Het
Mndal A T 1: 173,703,185 (GRCm39) D73E unknown Het
Msantd1 T C 5: 35,075,039 (GRCm39) S34P probably damaging Het
Myh14 T C 7: 44,260,977 (GRCm39) Q1838R possibly damaging Het
Myh15 G T 16: 48,993,369 (GRCm39) R1668L possibly damaging Het
Ncoa7 A G 10: 30,565,796 (GRCm39) M666T probably damaging Het
Nol6 A T 4: 41,116,686 (GRCm39) L944Q probably benign Het
Or5h27 A T 16: 59,006,376 (GRCm39) F157I unknown Het
Orc1 A G 4: 108,445,911 (GRCm39) T10A probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Pglyrp2 C T 17: 32,634,893 (GRCm39) A490T probably benign Het
Pirb A T 7: 3,720,187 (GRCm39) C395* probably null Het
Ppp1r11 T C 17: 37,261,900 (GRCm39) R12G possibly damaging Het
Prlr A G 15: 10,346,524 (GRCm39) D290G probably benign Het
Ptpn21 G T 12: 98,646,360 (GRCm39) R1033S probably damaging Het
Rad54l2 A G 9: 106,570,660 (GRCm39) L1220P possibly damaging Het
Rufy3 G A 5: 88,790,811 (GRCm39) R504H probably damaging Het
Scgb2b21 C T 7: 33,219,330 (GRCm39) V25I probably benign Het
Sh3bgrl2 T C 9: 83,430,542 (GRCm39) S11P possibly damaging Het
Slain2 A T 5: 73,132,002 (GRCm39) T498S probably benign Het
Slc12a4 C T 8: 106,682,347 (GRCm39) G121S probably damaging Het
Slc30a9 A T 5: 67,499,462 (GRCm39) I307F probably damaging Het
Snap91 C T 9: 86,655,598 (GRCm39) G800R unknown Het
Tnc G T 4: 63,882,999 (GRCm39) probably null Het
Trav21-dv12 T C 14: 54,113,514 (GRCm39) probably benign Het
Txk A T 5: 72,873,226 (GRCm39) I228N probably damaging Het
Vac14 T C 8: 111,438,252 (GRCm39) Y622H probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdr35 T G 12: 9,037,312 (GRCm39) M306R probably benign Het
Zan A T 5: 137,463,494 (GRCm39) S562T probably benign Het
Other mutations in Kif21b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Kif21b APN 1 136,080,080 (GRCm39) missense possibly damaging 0.68
IGL01020:Kif21b APN 1 136,081,832 (GRCm39) splice site probably benign
IGL01288:Kif21b APN 1 136,099,922 (GRCm39) missense probably benign 0.00
IGL02105:Kif21b APN 1 136,099,041 (GRCm39) missense probably benign
IGL02264:Kif21b APN 1 136,087,495 (GRCm39) missense probably damaging 1.00
IGL02303:Kif21b APN 1 136,087,495 (GRCm39) missense probably damaging 1.00
IGL02308:Kif21b APN 1 136,087,495 (GRCm39) missense probably damaging 1.00
IGL02310:Kif21b APN 1 136,087,495 (GRCm39) missense probably damaging 1.00
IGL02419:Kif21b APN 1 136,079,005 (GRCm39) missense probably benign 0.00
IGL02553:Kif21b APN 1 136,081,859 (GRCm39) missense probably damaging 1.00
IGL02568:Kif21b APN 1 136,100,605 (GRCm39) missense probably damaging 0.96
IGL02657:Kif21b APN 1 136,099,968 (GRCm39) missense possibly damaging 0.88
IGL03068:Kif21b APN 1 136,086,093 (GRCm39) unclassified probably benign
IGL03230:Kif21b APN 1 136,090,550 (GRCm39) missense probably benign 0.03
R0629_Kif21b_729 UTSW 1 136,099,895 (GRCm39) critical splice acceptor site probably null
Schiessen UTSW 1 136,075,607 (GRCm39) critical splice donor site probably null
wolfen UTSW 1 136,072,496 (GRCm39) nonsense probably null
R0190:Kif21b UTSW 1 136,098,957 (GRCm39) missense probably benign 0.32
R0349:Kif21b UTSW 1 136,077,049 (GRCm39) missense probably damaging 0.97
R0501:Kif21b UTSW 1 136,090,837 (GRCm39) missense probably benign 0.44
R0620:Kif21b UTSW 1 136,087,166 (GRCm39) missense possibly damaging 0.88
R0629:Kif21b UTSW 1 136,099,895 (GRCm39) critical splice acceptor site probably null
R0741:Kif21b UTSW 1 136,087,482 (GRCm39) missense probably damaging 1.00
R1087:Kif21b UTSW 1 136,090,561 (GRCm39) missense probably damaging 1.00
R1217:Kif21b UTSW 1 136,080,114 (GRCm39) missense probably damaging 1.00
R1464:Kif21b UTSW 1 136,083,891 (GRCm39) missense possibly damaging 0.50
R1464:Kif21b UTSW 1 136,083,891 (GRCm39) missense possibly damaging 0.50
R1511:Kif21b UTSW 1 136,097,062 (GRCm39) critical splice donor site probably null
R1512:Kif21b UTSW 1 136,080,543 (GRCm39) missense probably benign 0.01
R1513:Kif21b UTSW 1 136,083,849 (GRCm39) missense probably damaging 0.98
R1591:Kif21b UTSW 1 136,077,055 (GRCm39) missense probably damaging 1.00
R1616:Kif21b UTSW 1 136,099,423 (GRCm39) missense probably damaging 1.00
R1628:Kif21b UTSW 1 136,098,958 (GRCm39) missense probably benign 0.01
R1658:Kif21b UTSW 1 136,099,023 (GRCm39) missense probably damaging 1.00
R1728:Kif21b UTSW 1 136,087,859 (GRCm39) missense possibly damaging 0.85
R1741:Kif21b UTSW 1 136,083,880 (GRCm39) missense probably damaging 1.00
R1784:Kif21b UTSW 1 136,087,859 (GRCm39) missense possibly damaging 0.85
R1807:Kif21b UTSW 1 136,075,531 (GRCm39) missense possibly damaging 0.94
R1896:Kif21b UTSW 1 136,075,583 (GRCm39) missense possibly damaging 0.90
R1970:Kif21b UTSW 1 136,098,894 (GRCm39) missense probably damaging 1.00
R1984:Kif21b UTSW 1 136,075,284 (GRCm39) missense probably damaging 1.00
R1985:Kif21b UTSW 1 136,075,284 (GRCm39) missense probably damaging 1.00
R1986:Kif21b UTSW 1 136,075,284 (GRCm39) missense probably damaging 1.00
R1988:Kif21b UTSW 1 136,080,002 (GRCm39) missense probably damaging 0.98
R1990:Kif21b UTSW 1 136,089,508 (GRCm39) missense probably damaging 1.00
R2014:Kif21b UTSW 1 136,076,020 (GRCm39) missense probably damaging 1.00
R2045:Kif21b UTSW 1 136,088,051 (GRCm39) missense probably damaging 1.00
R2141:Kif21b UTSW 1 136,080,002 (GRCm39) missense probably damaging 0.98
R2248:Kif21b UTSW 1 136,100,704 (GRCm39) missense probably damaging 1.00
R2886:Kif21b UTSW 1 136,075,612 (GRCm39) splice site probably benign
R2896:Kif21b UTSW 1 136,081,955 (GRCm39) missense possibly damaging 0.82
R3706:Kif21b UTSW 1 136,087,148 (GRCm39) missense probably benign 0.06
R3780:Kif21b UTSW 1 136,083,964 (GRCm39) missense probably damaging 0.99
R3827:Kif21b UTSW 1 136,090,732 (GRCm39) critical splice donor site probably null
R4227:Kif21b UTSW 1 136,081,831 (GRCm39) splice site probably null
R4600:Kif21b UTSW 1 136,075,602 (GRCm39) missense probably benign 0.39
R4608:Kif21b UTSW 1 136,075,924 (GRCm39) intron probably benign
R4749:Kif21b UTSW 1 136,072,487 (GRCm39) nonsense probably null
R4841:Kif21b UTSW 1 136,072,958 (GRCm39) missense probably damaging 1.00
R4842:Kif21b UTSW 1 136,072,958 (GRCm39) missense probably damaging 1.00
R4933:Kif21b UTSW 1 136,079,063 (GRCm39) splice site probably null
R4959:Kif21b UTSW 1 136,076,108 (GRCm39) missense possibly damaging 0.90
R5018:Kif21b UTSW 1 136,099,972 (GRCm39) missense probably benign 0.30
R5116:Kif21b UTSW 1 136,080,521 (GRCm39) missense probably damaging 0.99
R5119:Kif21b UTSW 1 136,090,838 (GRCm39) missense probably benign
R5197:Kif21b UTSW 1 136,072,363 (GRCm39) missense probably damaging 1.00
R5230:Kif21b UTSW 1 136,099,411 (GRCm39) missense probably damaging 1.00
R5249:Kif21b UTSW 1 136,096,966 (GRCm39) missense probably damaging 1.00
R5337:Kif21b UTSW 1 136,098,881 (GRCm39) missense probably damaging 1.00
R5358:Kif21b UTSW 1 136,100,030 (GRCm39) missense possibly damaging 0.85
R5466:Kif21b UTSW 1 136,075,263 (GRCm39) missense probably damaging 1.00
R5557:Kif21b UTSW 1 136,097,797 (GRCm39) missense probably damaging 1.00
R5727:Kif21b UTSW 1 136,097,747 (GRCm39) missense probably damaging 1.00
R5865:Kif21b UTSW 1 136,078,875 (GRCm39) nonsense probably null
R5929:Kif21b UTSW 1 136,078,945 (GRCm39) missense probably damaging 1.00
R6274:Kif21b UTSW 1 136,077,156 (GRCm39) missense possibly damaging 0.57
R6349:Kif21b UTSW 1 136,086,064 (GRCm39) missense probably damaging 1.00
R6648:Kif21b UTSW 1 136,080,135 (GRCm39) missense probably benign 0.00
R6831:Kif21b UTSW 1 136,072,496 (GRCm39) nonsense probably null
R7156:Kif21b UTSW 1 136,075,562 (GRCm39) missense probably damaging 1.00
R7165:Kif21b UTSW 1 136,077,186 (GRCm39) missense probably damaging 0.98
R7680:Kif21b UTSW 1 136,075,607 (GRCm39) critical splice donor site probably null
R7975:Kif21b UTSW 1 136,098,911 (GRCm39) missense probably damaging 1.00
R8356:Kif21b UTSW 1 136,100,683 (GRCm39) missense probably damaging 1.00
R8467:Kif21b UTSW 1 136,100,021 (GRCm39) missense probably damaging 0.98
R9031:Kif21b UTSW 1 136,073,042 (GRCm39) missense probably damaging 0.99
R9101:Kif21b UTSW 1 136,078,893 (GRCm39) missense probably damaging 0.96
R9191:Kif21b UTSW 1 136,100,559 (GRCm39) nonsense probably null
R9261:Kif21b UTSW 1 136,077,162 (GRCm39) missense probably damaging 1.00
R9280:Kif21b UTSW 1 136,099,445 (GRCm39) critical splice donor site probably null
R9307:Kif21b UTSW 1 136,101,800 (GRCm39) missense probably benign
R9562:Kif21b UTSW 1 136,077,090 (GRCm39) missense probably damaging 0.99
R9563:Kif21b UTSW 1 136,077,166 (GRCm39) missense probably damaging 1.00
R9565:Kif21b UTSW 1 136,077,090 (GRCm39) missense probably damaging 0.99
R9758:Kif21b UTSW 1 136,080,961 (GRCm39) missense probably damaging 1.00
R9760:Kif21b UTSW 1 136,076,421 (GRCm39) missense probably damaging 1.00
RF024:Kif21b UTSW 1 136,086,079 (GRCm39) missense probably damaging 1.00
X0053:Kif21b UTSW 1 136,077,054 (GRCm39) missense probably damaging 1.00
X0066:Kif21b UTSW 1 136,100,683 (GRCm39) missense probably damaging 1.00
Z1176:Kif21b UTSW 1 136,081,875 (GRCm39) missense probably benign 0.00
Z1177:Kif21b UTSW 1 136,076,050 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAGAGTCTGAGTGCCCTG -3'
(R):5'- TGTCCAGAGGTCTGAAGAGG -3'

Sequencing Primer
(F):5'- CTGTGGGCAGGCAGGAC -3'
(R):5'- TGACCATGACGGGACATGC -3'
Posted On 2019-09-13