Incidental Mutation 'R6349:Kif21b'
ID 512413
Institutional Source Beutler Lab
Gene Symbol Kif21b
Ensembl Gene ENSMUSG00000041642
Gene Name kinesin family member 21B
Synonyms 2610511N21Rik, N-5 kinesin
MMRRC Submission 044503-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R6349 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 136059127-136105736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 136086064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 812 (V812I)
Ref Sequence ENSEMBL: ENSMUSP00000074661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075164] [ENSMUST00000130864] [ENSMUST00000171381]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000075164
AA Change: V812I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074661
Gene: ENSMUSG00000041642
AA Change: V812I

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 noncoding transcript
Transcript: ENSMUST00000127624
Predicted Effect possibly damaging
Transcript: ENSMUST00000130864
AA Change: V812I

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114297
Gene: ENSMUSG00000041642
AA Change: V812I

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.6%
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 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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012A03Rik A G 6: 32,028,595 (GRCm39) Y9C probably benign Het
4930433I11Rik A C 7: 40,644,196 (GRCm39) M622L possibly damaging Het
Abca8b C T 11: 109,825,544 (GRCm39) probably null Het
Adam28 T C 14: 68,870,621 (GRCm39) I351V probably benign Het
Adgrd1 A C 5: 129,219,603 (GRCm39) probably null Het
Ank3 T A 10: 69,815,269 (GRCm39) I473N probably damaging Het
Ankrd6 A T 4: 32,822,231 (GRCm39) H179Q probably damaging Het
Ano6 A G 15: 95,863,903 (GRCm39) R808G probably damaging Het
Anxa8 A T 14: 33,819,850 (GRCm39) I280F probably damaging Het
Asb2 C T 12: 103,312,118 (GRCm39) M1I probably null Het
Astn1 C T 1: 158,491,691 (GRCm39) Q1023* probably null Het
Cast T A 13: 74,869,314 (GRCm39) E542D probably damaging Het
Ccdc162 C T 10: 41,570,396 (GRCm39) E30K probably damaging Het
Ccdc87 T C 19: 4,891,347 (GRCm39) V613A probably damaging Het
Cdk13 T C 13: 17,926,304 (GRCm39) N832S probably damaging Het
Celsr1 T A 15: 85,915,885 (GRCm39) N696I probably damaging Het
Chd3 T C 11: 69,254,857 (GRCm39) E161G possibly damaging Het
Cxcr4 C A 1: 128,517,014 (GRCm39) V216F possibly damaging Het
Cyp4a10 A G 4: 115,382,555 (GRCm39) I282V probably benign Het
Deaf1 T C 7: 140,902,863 (GRCm39) T154A possibly damaging Het
Dido1 A T 2: 180,302,494 (GRCm39) D1803E probably benign Het
Dmxl2 T C 9: 54,327,193 (GRCm39) D944G possibly damaging Het
Dnah5 G A 15: 28,238,657 (GRCm39) V400M probably damaging Het
Fbxo15 A G 18: 84,982,267 (GRCm39) I240V probably benign Het
Fcrl2 A G 3: 87,159,803 (GRCm39) C484R probably damaging Het
Fech G T 18: 64,603,856 (GRCm39) Y164* probably null Het
Fer1l5 T A 1: 36,450,355 (GRCm39) W1175R probably damaging Het
Fgfrl1 T C 5: 108,853,372 (GRCm39) Y241H probably damaging Het
Flvcr2 T C 12: 85,793,974 (GRCm39) Y117H probably benign Het
Fsip2 T A 2: 82,823,416 (GRCm39) M6383K probably benign Het
Gcc2 T A 10: 58,105,296 (GRCm39) D141E probably benign Het
Glt1d1 A C 5: 127,783,950 (GRCm39) R301S probably benign Het
Hars1 G C 18: 36,916,107 (GRCm39) A16G probably benign Het
Hmcn2 G T 2: 31,278,385 (GRCm39) G1696C probably damaging Het
Hydin T A 8: 111,145,091 (GRCm39) L814* probably null Het
Izumo4 T A 10: 80,538,551 (GRCm39) M1K probably null Het
Kdm5d T A Y: 916,847 (GRCm39) M414K probably damaging Homo
Map3k7 A G 4: 31,988,661 (GRCm39) D270G possibly damaging Het
Mical3 A G 6: 120,936,486 (GRCm39) S1347P probably benign Het
Mras T A 9: 99,276,669 (GRCm39) D67V probably damaging Het
Mtnr1b A T 9: 15,774,509 (GRCm39) Y183* probably null Het
Muc16 A T 9: 18,568,625 (GRCm39) L1298Q unknown Het
Myh2 A T 11: 67,083,829 (GRCm39) I1536F probably benign Het
Or7c19 T C 8: 85,957,787 (GRCm39) I221T possibly damaging Het
Osmr G T 15: 6,850,544 (GRCm39) D686E probably benign Het
Pah T A 10: 87,414,831 (GRCm39) D394E probably benign Het
Pla1a T A 16: 38,237,486 (GRCm39) S71C probably benign Het
Proc T A 18: 32,266,486 (GRCm39) I114L probably benign Het
Psd T G 19: 46,301,826 (GRCm39) probably null Het
Psmb6 C T 11: 70,418,364 (GRCm39) Q226* probably null Het
Rnpepl1 A T 1: 92,847,563 (GRCm39) N717Y probably damaging Het
Rundc1 T C 11: 101,324,988 (GRCm39) S565P probably benign Het
Serpinb5 T A 1: 106,809,495 (GRCm39) S300R probably benign Het
Serpinf2 T C 11: 75,323,257 (GRCm39) D483G probably damaging Het
Sgsm3 T C 15: 80,892,547 (GRCm39) I291T probably benign Het
Smg6 T A 11: 74,944,600 (GRCm39) D116E possibly damaging Het
Srfbp1 G T 18: 52,622,034 (GRCm39) S365I probably benign Het
Stkld1 A G 2: 26,835,872 (GRCm39) T236A probably benign Het
Susd5 T C 9: 113,924,870 (GRCm39) V251A probably benign Het
Tcf25 A G 8: 124,118,332 (GRCm39) Y314C probably damaging Het
Tmem210 A G 2: 25,179,048 (GRCm39) D112G possibly damaging Het
Tubb2b A G 13: 34,311,528 (GRCm39) Y422H probably damaging Het
Tyw1 T C 5: 130,305,872 (GRCm39) S332P possibly damaging Het
Vmn1r29 A C 6: 58,284,412 (GRCm39) Q44P probably damaging Het
Vrtn T C 12: 84,695,792 (GRCm39) S181P probably damaging Het
Wdr76 T A 2: 121,364,712 (GRCm39) Y437N possibly damaging Het
Zc3h18 C A 8: 123,135,025 (GRCm39) probably benign Het
Zfp287 G T 11: 62,616,168 (GRCm39) D174E probably damaging Het
Zfp800 A T 6: 28,244,601 (GRCm39) Y121* probably null Het
Zfyve19 T A 2: 119,041,078 (GRCm39) L57Q probably damaging 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
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
R7327:Kif21b UTSW 1 136,087,387 (GRCm39) missense possibly damaging 0.60
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'- TGTCTACAGAGCTGCCTACC -3'
(R):5'- TGGCAAGGCTGTATTCACTG -3'

Sequencing Primer
(F):5'- CTGATCTCTGAGTTCAAGGCCAG -3'
(R):5'- TCACTGAATGAAGAAAGCTCTAGTCC -3'
Posted On 2018-04-27