Incidental Mutation 'R9261:Kif21b'
ID 702220
Institutional Source Beutler Lab
Gene Symbol Kif21b
Ensembl Gene ENSMUSG00000041642
Gene Name kinesin family member 21B
Synonyms 2610511N21Rik, N-5 kinesin
MMRRC Submission 068990-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R9261 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 136059127-136105736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 136077162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 395 (R395C)
Ref Sequence ENSEMBL: ENSMUSP00000074661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075164] [ENSMUST00000130864]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000075164
AA Change: R395C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074661
Gene: ENSMUSG00000041642
AA Change: R395C

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 damaging
Transcript: ENSMUST00000130864
AA Change: R395C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114297
Gene: ENSMUSG00000041642
AA Change: R395C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,075,397 (GRCm39) E1043G probably benign Het
Agps T G 2: 75,684,850 (GRCm39) probably benign Het
Ahnak A G 19: 8,993,503 (GRCm39) E4929G possibly damaging Het
Arl6ip4 T A 5: 124,256,146 (GRCm39) probably benign Het
Cdhr17 T C 5: 17,006,547 (GRCm39) L88P possibly damaging Het
Clca3a2 G T 3: 144,525,158 (GRCm39) H25N probably benign Het
Cubn C T 2: 13,283,262 (GRCm39) D3559N probably damaging Het
Dmac2 T A 7: 25,320,345 (GRCm39) W15R probably benign Het
Dzank1 T C 2: 144,355,344 (GRCm39) E117G probably benign Het
Eml2 A G 7: 18,913,743 (GRCm39) T187A probably benign Het
Eml5 A G 12: 98,822,287 (GRCm39) V747A probably damaging Het
Esr1 T A 10: 4,919,271 (GRCm39) S454T probably damaging Het
Evc2 A G 5: 37,537,895 (GRCm39) T528A probably benign Het
Fbxo5 T C 10: 5,752,325 (GRCm39) N96S probably damaging Het
Fcnb T C 2: 27,969,636 (GRCm39) T144A probably damaging Het
Fgf20 T A 8: 40,739,951 (GRCm39) probably benign Het
Gcg T C 2: 62,306,408 (GRCm39) probably benign Het
Gfm2 T A 13: 97,299,369 (GRCm39) Y363* probably null Het
Grwd1 C T 7: 45,475,381 (GRCm39) R387Q probably benign Het
Gstt2 C T 10: 75,669,511 (GRCm39) D59N possibly damaging Het
Herc1 A G 9: 66,412,129 (GRCm39) N4783S probably damaging Het
Hydin C A 8: 110,994,047 (GRCm39) A27E unknown Het
Iigp1c T A 18: 60,353,820 (GRCm39) probably benign Het
Ikbip A G 10: 90,932,249 (GRCm39) T298A possibly damaging Het
Il1rap A G 16: 26,541,724 (GRCm39) N655S possibly damaging Het
Kif3a ATTGACG A 11: 53,484,248 (GRCm39) probably benign Het
Klhl40 A G 9: 121,609,002 (GRCm39) D389G probably benign Het
Ly6g A G 15: 75,030,529 (GRCm39) T116A probably damaging Het
Mast2 A G 4: 116,165,900 (GRCm39) L1276P probably damaging Het
Mitf A G 6: 97,990,704 (GRCm39) Q369R possibly damaging Het
Mtus2 T A 5: 148,243,453 (GRCm39) Y192* probably null Het
Nav1 T A 1: 135,388,095 (GRCm39) E1109D unknown Het
Nav2 A G 7: 49,246,904 (GRCm39) E2143G probably damaging Het
Nedd4 A G 9: 72,584,656 (GRCm39) Q119R possibly damaging Het
Nek9 A G 12: 85,359,841 (GRCm39) V537A probably damaging Het
Notum G T 11: 120,550,974 (GRCm39) T64K Het
Nudcd2 A G 11: 40,630,026 (GRCm39) N144S probably damaging Het
Nup205 A G 6: 35,176,792 (GRCm39) E596G probably benign Het
Olfml1 T A 7: 107,167,007 (GRCm39) L12Q possibly damaging Het
Or4f60 T A 2: 111,902,718 (GRCm39) D70V probably damaging Het
Or51k1 C T 7: 103,661,336 (GRCm39) C191Y probably damaging Het
Or52n2c A T 7: 104,574,305 (GRCm39) M222K probably benign Het
Or56b2 T A 7: 104,337,260 (GRCm39) F13I probably benign Het
Or6b13 A G 7: 139,782,563 (GRCm39) V40A probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Padi4 T C 4: 140,479,926 (GRCm39) N409S probably damaging Het
Pam T A 1: 97,903,620 (GRCm39) T38S probably benign Het
Piezo2 T C 18: 63,208,868 (GRCm39) I1382V possibly damaging Het
Pla2g12a A T 3: 129,684,080 (GRCm39) Q153L possibly damaging Het
Pla2g4e T A 2: 120,019,910 (GRCm39) H180L probably benign Het
Pou2af2 T A 9: 51,202,998 (GRCm39) H52L probably benign Het
Pprc1 A G 19: 46,050,868 (GRCm39) T169A unknown Het
Prrc2c A G 1: 162,505,622 (GRCm39) I2592T possibly damaging Het
Ptchd3 T A 11: 121,722,956 (GRCm39) I348N probably damaging Het
Ralgps1 T C 2: 33,226,571 (GRCm39) D40G probably damaging Het
Rbm19 T C 5: 120,256,810 (GRCm39) F41S probably damaging Het
Rbsn T C 6: 92,166,797 (GRCm39) M616V probably benign Het
Ryr1 A T 7: 28,751,813 (GRCm39) M3660K possibly damaging Het
Sidt2 A T 9: 45,861,396 (GRCm39) V246E probably damaging Het
Slc4a4 T C 5: 89,347,568 (GRCm39) W770R probably damaging Het
Spata31d1c T A 13: 65,184,680 (GRCm39) S741T probably damaging Het
Stk19 T G 17: 35,051,432 (GRCm39) Y108S possibly damaging Het
Stox2 T C 8: 47,645,441 (GRCm39) E673G possibly damaging Het
Tax1bp1 T A 6: 52,714,116 (GRCm39) C271S probably benign Het
Tmem161a C A 8: 70,631,572 (GRCm39) R167S probably damaging Het
Tnrc6c T A 11: 117,605,105 (GRCm39) V80E probably damaging Het
Trpa1 G A 1: 14,963,465 (GRCm39) H586Y probably damaging Het
Tsr1 A G 11: 74,799,056 (GRCm39) T746A probably damaging Het
Uqcrfs1 T C 13: 30,724,794 (GRCm39) I249V probably damaging Het
Vmn2r84 C A 10: 130,229,976 (GRCm39) E45D probably benign Het
Vnn3 A G 10: 23,741,607 (GRCm39) E304G probably damaging Het
Zfp541 G A 7: 15,816,029 (GRCm39) V839M possibly damaging Het
Zfp62 A G 11: 49,108,350 (GRCm39) K814E 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
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
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'- TTAGCCAGACCATCATGATCG -3'
(R):5'- TCAGCCTGCACTGGTTTTGC -3'

Sequencing Primer
(F):5'- ACCATCATGATCGCCTGTGTGAG -3'
(R):5'- AGTACTGGGACCCACATCTGATG -3'
Posted On 2022-03-25