Incidental Mutation 'R1628:Kif21b'
ID 172582
Institutional Source Beutler Lab
Gene Symbol Kif21b
Ensembl Gene ENSMUSG00000041642
Gene Name kinesin family member 21B
Synonyms 2610511N21Rik, N-5 kinesin
MMRRC Submission 039665-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R1628 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 136059127-136105736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 136098958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1415 (H1415Q)
Ref Sequence ENSEMBL: ENSMUSP00000074661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075164] [ENSMUST00000130864]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000075164
AA Change: H1415Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000074661
Gene: ENSMUSG00000041642
AA Change: H1415Q

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 probably benign
Transcript: ENSMUST00000130864
AA Change: H1415Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000114297
Gene: ENSMUSG00000041642
AA Change: H1415Q

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 noncoding transcript
Transcript: ENSMUST00000165333
Meta Mutation Damage Score 0.0582 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 99% (75/76)
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
Abcg8 C T 17: 84,999,419 (GRCm39) Q172* probably null Het
AI467606 G A 7: 126,691,755 (GRCm39) G110D probably benign Het
Arhgef15 A C 11: 68,835,640 (GRCm39) L805R possibly damaging Het
B3galnt1 G A 3: 69,482,961 (GRCm39) T100I probably damaging Het
Bod1l T A 5: 41,974,325 (GRCm39) M2330L probably benign Het
Calcr A T 6: 3,700,251 (GRCm39) H280Q possibly damaging Het
Camk1d T C 2: 5,315,848 (GRCm39) D263G probably damaging Het
Cd48 T A 1: 171,532,420 (GRCm39) I233N probably damaging Het
Cyp3a25 A T 5: 145,938,273 (GRCm39) Y68* probably null Het
Dapk3 C A 10: 81,027,643 (GRCm39) T227K possibly damaging Het
Dnajc22 A G 15: 98,998,817 (GRCm39) M1V probably null Het
Etv5 C T 16: 22,220,421 (GRCm39) probably null Het
Gabrr1 A G 4: 33,152,432 (GRCm39) Y124C probably damaging Het
Gba2 C T 4: 43,570,118 (GRCm39) R392Q probably benign Het
Gli3 C G 13: 15,900,897 (GRCm39) A1428G probably benign Het
Gls G A 1: 52,271,835 (GRCm39) A106V probably benign Het
Gm21370 A G 13: 120,488,414 (GRCm39) V45A possibly damaging Het
Gpr4 A G 7: 18,957,124 (GRCm39) T349A probably benign Het
Gpr6 C T 10: 40,947,544 (GRCm39) V13M possibly damaging Het
Gvin3 A T 7: 106,202,476 (GRCm39) L256* probably null Het
Hectd3 A G 4: 116,854,589 (GRCm39) H345R probably damaging Het
Igfl3 A T 7: 17,914,232 (GRCm39) K135N probably benign Het
Il23r A G 6: 67,400,593 (GRCm39) L579S probably damaging Het
Itsn2 A C 12: 4,679,652 (GRCm39) M154L probably benign Het
Junb T A 8: 85,705,039 (GRCm39) Q7L possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhdc10 T G 6: 30,444,461 (GRCm39) F79L probably damaging Het
Klk1b8 A G 7: 43,603,565 (GRCm39) probably null Het
Lmbrd2 T A 15: 9,182,593 (GRCm39) N509K probably damaging Het
Mctp2 A G 7: 71,861,337 (GRCm39) probably null Het
Myo3b A G 2: 70,117,306 (GRCm39) N913S probably benign Het
N4bp2 G A 5: 65,960,915 (GRCm39) probably null Het
Nt5c1a A G 4: 123,102,284 (GRCm39) E70G possibly damaging Het
Or12k5 A G 2: 36,894,738 (GRCm39) V296A probably damaging Het
Papln A G 12: 83,831,180 (GRCm39) probably benign Het
Pcnx3 G T 19: 5,736,093 (GRCm39) S244R probably damaging Het
Pecam1 A T 11: 106,573,786 (GRCm39) probably null Het
Plppr4 A T 3: 117,121,921 (GRCm39) L219Q probably damaging Het
Ppp2r5b A G 19: 6,280,935 (GRCm39) probably null Het
Ralgapb A G 2: 158,272,383 (GRCm39) R146G probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rfpl4b T G 10: 38,697,530 (GRCm39) I24L probably benign Het
Serpinb1b G A 13: 33,277,637 (GRCm39) C290Y probably benign Het
Skic3 A G 13: 76,259,910 (GRCm39) E70G possibly damaging Het
Slc25a17 A G 15: 81,244,925 (GRCm39) S3P possibly damaging Het
Slc4a11 A C 2: 130,529,047 (GRCm39) probably null Het
Spata31e4 T C 13: 50,856,324 (GRCm39) L654P probably benign Het
Sptb A G 12: 76,630,622 (GRCm39) Y2231H probably damaging Het
Srgap1 T G 10: 121,706,244 (GRCm39) M221L probably benign Het
Srgap3 A G 6: 112,716,331 (GRCm39) L599P probably damaging Het
Svep1 C T 4: 58,107,561 (GRCm39) V1177M probably benign Het
Tarbp1 A G 8: 127,157,599 (GRCm39) F1303L possibly damaging Het
Tbxa2r T C 10: 81,170,341 (GRCm39) S276P possibly damaging Het
Try10 A T 6: 41,334,390 (GRCm39) D194V probably damaging Het
Ttc39c T C 18: 12,867,936 (GRCm39) probably benign Het
Ttc8 G A 12: 98,948,780 (GRCm39) V489M probably benign Het
Unc13b G T 4: 43,263,371 (GRCm39) R1912L probably damaging Het
Unc45b T A 11: 82,820,206 (GRCm39) probably null Het
Usp17lb T C 7: 104,490,048 (GRCm39) Y292C probably damaging Het
Usp34 A G 11: 23,438,725 (GRCm39) D3429G probably damaging Het
Usp42 A G 5: 143,703,122 (GRCm39) S500P probably damaging Het
Vmn2r14 T C 5: 109,367,838 (GRCm39) M385V probably benign Het
Vmn2r60 G A 7: 41,785,830 (GRCm39) W211* probably null Het
Vwf A T 6: 125,624,701 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,681,918 (GRCm39) F3018I probably damaging Het
Wwox A G 8: 115,174,973 (GRCm39) T102A probably benign Het
Zfp142 A C 1: 74,611,047 (GRCm39) L813R possibly damaging Het
Zfp407 G A 18: 84,372,658 (GRCm39) T1670M probably damaging Het
Zfp93 A G 7: 23,974,282 (GRCm39) E89G probably benign Het
Zwint C T 10: 72,492,127 (GRCm39) Q18* probably null 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
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
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'- TTCCCAGATAGGGAAGGAGGCATC -3'
(R):5'- TTTTCAGCGGCAGAGGACAAGG -3'

Sequencing Primer
(F):5'- GCATCCTGGAAGAAGTGGC -3'
(R):5'- TTGGAGGCACAGTTGAGG -3'
Posted On 2014-04-24