Incidental Mutation 'R1807:Kif21b'
ID 203505
Institutional Source Beutler Lab
Gene Symbol Kif21b
Ensembl Gene ENSMUSG00000041642
Gene Name kinesin family member 21B
Synonyms 2610511N21Rik, N-5 kinesin
MMRRC Submission 039836-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R1807 (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 136075531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 219 (N219K)
Ref Sequence ENSEMBL: ENSMUSP00000114297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075164] [ENSMUST00000130864]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000075164
AA Change: N219K

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000074661
Gene: ENSMUSG00000041642
AA Change: N219K

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: ENSMUST00000122892
Predicted Effect possibly damaging
Transcript: ENSMUST00000130864
AA Change: N219K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114297
Gene: ENSMUSG00000041642
AA Change: N219K

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.7%
  • 20x: 90.7%
Validation Efficiency 97% (77/79)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C T 17: 36,205,961 (GRCm39) W27* probably null Het
4933430I17Rik T A 4: 62,460,993 (GRCm39) Y289* probably null Het
A3galt2 A G 4: 128,661,394 (GRCm39) I348V probably benign Het
Abca13 A G 11: 9,241,755 (GRCm39) Y1206C probably damaging Het
Adar T C 3: 89,642,172 (GRCm39) S18P probably benign Het
Akr1cl T C 1: 65,061,106 (GRCm39) D139G possibly damaging Het
Aldh1b1 A G 4: 45,802,873 (GRCm39) Y137C possibly damaging Het
Arsa T C 15: 89,359,525 (GRCm39) M86V possibly damaging Het
Atg9b C A 5: 24,592,055 (GRCm39) R648L probably damaging Het
Atrn A G 2: 130,824,692 (GRCm39) N1042S possibly damaging Het
Ccdc6 T A 10: 70,010,989 (GRCm39) D325E possibly damaging Het
Cdk12 T C 11: 98,101,203 (GRCm39) S354P unknown Het
Chst3 T A 10: 60,022,130 (GRCm39) Y239F probably benign Het
Cilp2 C A 8: 70,334,844 (GRCm39) R718L probably damaging Het
Col27a1 A G 4: 63,249,586 (GRCm39) probably benign Het
Ctbp2 T C 7: 132,616,137 (GRCm39) N266S probably benign Het
Ctnnd2 T C 15: 30,620,017 (GRCm39) V123A probably damaging Het
Cyria G A 12: 12,411,505 (GRCm39) R123Q probably benign Het
D7Ertd443e T A 7: 133,895,034 (GRCm39) E552V probably null Het
Dcst1 T A 3: 89,260,848 (GRCm39) H516L probably damaging Het
Depp1 G A 6: 116,628,683 (GRCm39) V9M possibly damaging Het
Drd2 C T 9: 49,316,367 (GRCm39) L376F probably damaging Het
Edn1 A G 13: 42,460,270 (GRCm39) N175S probably damaging Het
Eipr1 G T 12: 28,816,838 (GRCm39) G65V probably damaging Het
Epha4 G A 1: 77,351,541 (GRCm39) P905S probably benign Het
Erbb2 T C 11: 98,319,680 (GRCm39) Y591H probably damaging Het
Fam135b G A 15: 71,335,761 (GRCm39) R478C probably benign Het
Fat2 T C 11: 55,180,085 (GRCm39) T1419A probably damaging Het
Flnb C T 14: 7,934,645 (GRCm38) T2239I probably benign Het
Gm7713 T C 15: 59,866,320 (GRCm39) noncoding transcript Het
Hsf5 C T 11: 87,548,168 (GRCm39) P617L probably benign Het
Kcnk12 C A 17: 88,053,468 (GRCm39) R398L probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klra5 A T 6: 129,876,383 (GRCm39) F141L probably benign Het
Lmtk3 C T 7: 45,442,702 (GRCm39) P462S probably benign Het
Mast2 A G 4: 116,167,938 (GRCm39) probably benign Het
Me1 T A 9: 86,532,932 (GRCm39) T197S probably damaging Het
Msr1 T A 8: 40,072,948 (GRCm39) Q267L probably benign Het
Nfic T C 10: 81,240,819 (GRCm39) T328A probably benign Het
Nphp3 G A 9: 103,897,940 (GRCm39) D390N probably benign Het
Nr2e1 T A 10: 42,458,905 (GRCm39) probably null Het
Nt5el A T 13: 105,218,744 (GRCm39) Q26L probably benign Het
Or52e19b T A 7: 103,032,790 (GRCm39) N140Y probably benign Het
Or5t9 T A 2: 86,659,445 (GRCm39) F116L probably benign Het
Pard6b T C 2: 167,929,332 (GRCm39) L46P probably damaging Het
Prkaa1 T A 15: 5,173,436 (GRCm39) L20Q probably damaging Het
Rapgefl1 T C 11: 98,736,815 (GRCm39) probably null Het
Recql5 T C 11: 115,785,941 (GRCm39) K611E possibly damaging Het
Rexo1 A T 10: 80,378,413 (GRCm39) I1180N possibly damaging Het
Rnf26rt A G 6: 76,474,397 (GRCm39) V73A probably benign Het
Rph3a T C 5: 121,083,456 (GRCm39) N605D probably damaging Het
Sema6a A G 18: 47,409,491 (GRCm39) V592A possibly damaging Het
Skint11 A T 4: 114,051,893 (GRCm39) R80S probably benign Het
Smpdl3a C A 10: 57,677,118 (GRCm39) P72H probably damaging Het
Sobp T G 10: 43,036,822 (GRCm39) M39L possibly damaging Het
Sparcl1 T A 5: 104,233,627 (GRCm39) Y574F probably damaging Het
Spns3 C T 11: 72,429,166 (GRCm39) W206* probably null Het
Srf A G 17: 46,864,685 (GRCm39) V190A possibly damaging Het
Stag1 T G 9: 100,790,719 (GRCm39) H742Q probably benign Het
Strn3 A T 12: 51,673,986 (GRCm39) S542T probably benign Het
Synpo2 T C 3: 122,873,906 (GRCm39) E1020G possibly damaging Het
Tcerg1l T A 7: 137,996,826 (GRCm39) H137L probably benign Het
Tlr12 A T 4: 128,511,229 (GRCm39) D340E probably benign Het
Tmem130 T A 5: 144,692,174 (GRCm39) T77S probably benign Het
Tmem143 C A 7: 45,547,037 (GRCm39) R68S probably damaging Het
Tnrc6a CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT 7: 122,761,669 (GRCm39) probably benign Het
Trem1 G T 17: 48,548,663 (GRCm39) G67* probably null Het
Tsc1 A G 2: 28,576,125 (GRCm39) D978G probably benign Het
Txndc9 A T 1: 38,033,096 (GRCm39) H95Q probably damaging Het
Yju2b C T 8: 84,986,936 (GRCm39) R187Q probably damaging Het
Zfp35 T A 18: 24,136,986 (GRCm39) N443K 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
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'- CCTATTTGACAGCACCCGTG -3'
(R):5'- ACCTCTGGAGTTCCTAGCCTAG -3'

Sequencing Primer
(F):5'- ACCACAGGTGTCACTTCTCG -3'
(R):5'- TAGCCTAGGCCCACGTTTG -3'
Posted On 2014-06-23