Incidental Mutation 'R7165:Kif21b'
ID 557837
Institutional Source Beutler Lab
Gene Symbol Kif21b
Ensembl Gene ENSMUSG00000041642
Gene Name kinesin family member 21B
Synonyms 2610511N21Rik, N-5 kinesin
MMRRC Submission 045262-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R7165 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 136059127-136105736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136077186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 403 (Y403H)
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: Y403H

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074661
Gene: ENSMUSG00000041642
AA Change: Y403H

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: Y403H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114297
Gene: ENSMUSG00000041642
AA Change: Y403H

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 98% (79/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl C A 2: 127,965,028 (GRCm39) A624E probably benign Het
Adnp A G 2: 168,024,287 (GRCm39) S1003P probably benign Het
Akap8l T C 17: 32,557,386 (GRCm39) D75G probably damaging Het
Ap4e1 A T 2: 126,905,238 (GRCm39) T970S possibly damaging Het
Asb3 T A 11: 30,979,029 (GRCm39) N106K probably damaging Het
Atp1a3 T C 7: 24,678,390 (GRCm39) I988V probably benign Het
Camta1 A G 4: 151,169,157 (GRCm39) L198S possibly damaging Het
Ccdc77 A G 6: 120,327,193 (GRCm39) L84P probably damaging Het
Ccne1 C T 7: 37,798,726 (GRCm39) A298T probably damaging Het
Cdc42bpb T A 12: 111,287,951 (GRCm39) E532V probably damaging Het
Clasp2 G A 9: 113,615,467 (GRCm39) probably null Het
Cntnap5b C A 1: 100,003,887 (GRCm39) T289N possibly damaging Het
Dcun1d4 A G 5: 73,648,538 (GRCm39) probably null Het
Dnah14 A G 1: 181,532,100 (GRCm39) T2296A probably benign Het
Dnaja4 A T 9: 54,616,516 (GRCm39) Q173L probably damaging Het
Dync2h1 G A 9: 7,050,479 (GRCm39) A3190V probably benign Het
Frrs1 T A 3: 116,671,920 (GRCm39) I6N probably benign Het
Fscn1 T C 5: 142,957,801 (GRCm39) V477A probably benign Het
Fsip2 G A 2: 82,811,541 (GRCm39) G2620E possibly damaging Het
Glp1r C T 17: 31,128,297 (GRCm39) A92V probably benign Het
Gpr137b A T 13: 13,542,205 (GRCm39) M204K probably damaging Het
Gstm1 A G 3: 107,923,693 (GRCm39) V104A probably benign Het
Gtf2e1 A T 16: 37,356,228 (GRCm39) N101K probably damaging Het
Igsf9b T C 9: 27,245,536 (GRCm39) F1168L probably benign Het
Itpr2 A T 6: 146,195,589 (GRCm39) V1629E probably damaging Het
Kat14 A G 2: 144,235,918 (GRCm39) T428A probably benign Het
Lpcat1 G C 13: 73,662,649 (GRCm39) A533P probably benign Het
Lrp2 A T 2: 69,336,917 (GRCm39) I1285N probably damaging Het
Mboat1 A T 13: 30,408,398 (GRCm39) Y187F probably damaging Het
Mkx T C 18: 7,002,525 (GRCm39) N7S probably damaging Het
Mrps27 A T 13: 99,551,307 (GRCm39) T357S possibly damaging Het
Muc21 A G 17: 35,932,870 (GRCm39) S439P unknown Het
Naa35 A G 13: 59,733,997 (GRCm39) D9G probably benign Het
Ncoa4 T A 14: 31,897,940 (GRCm39) N253K probably damaging Het
Neb A G 2: 52,160,318 (GRCm39) Y2232H probably damaging Het
Nlk G A 11: 78,481,793 (GRCm39) Q223* probably null Het
Npas2 T A 1: 39,331,798 (GRCm39) I71N possibly damaging Het
Nup107 T A 10: 117,609,267 (GRCm39) Q364L probably damaging Het
Or8g17 T A 9: 38,934,566 (GRCm39) probably benign Het
Otof C T 5: 30,532,964 (GRCm39) G1593S probably damaging Het
Panx3 G T 9: 37,575,381 (GRCm39) H160Q probably damaging Het
Pappa T A 4: 65,180,110 (GRCm39) H990Q probably damaging Het
Pax4 G A 6: 28,446,136 (GRCm39) P119L probably damaging Het
Pcdhb20 T A 18: 37,638,123 (GRCm39) D216E probably damaging Het
Pcdhgb8 T A 18: 37,896,231 (GRCm39) S434T possibly damaging Het
Pf4 T C 5: 90,920,448 (GRCm39) V3A probably benign Het
Phf24 T C 4: 42,938,325 (GRCm39) S229P probably benign Het
Plcd3 A G 11: 102,970,439 (GRCm39) F200S probably damaging Het
Ppp1r16a A G 15: 76,575,104 (GRCm39) H4R probably damaging Het
Pramel15 A G 4: 144,099,389 (GRCm39) C459R probably damaging Het
Prdm10 A G 9: 31,227,738 (GRCm39) probably null Het
Prim2 A G 1: 33,667,474 (GRCm39) probably null Het
Prkg1 T A 19: 30,562,599 (GRCm39) H550L probably damaging Het
Prrc2c G T 1: 162,501,086 (GRCm39) T2809N possibly damaging Het
Ptx3 A G 3: 66,132,391 (GRCm39) E304G probably benign Het
Ralgps2 A G 1: 156,655,818 (GRCm39) F369L probably benign Het
Rasgrp1 G A 2: 117,168,885 (GRCm39) T31I probably benign Het
Rbsn A T 6: 92,168,315 (GRCm39) M373K probably benign Het
Rnf168 C G 16: 32,101,179 (GRCm39) R120G probably benign Het
Rp1 A G 1: 4,420,140 (GRCm39) I324T probably damaging Het
Samd11 T C 4: 156,336,747 (GRCm39) S31G probably benign Het
Sart3 A T 5: 113,884,056 (GRCm39) L652Q probably benign Het
Scrn2 A G 11: 96,924,634 (GRCm39) E421G probably benign Het
Sik2 A T 9: 50,828,397 (GRCm39) L215Q probably damaging Het
Speer4a3 AACT A 5: 26,155,849 (GRCm39) probably benign Het
Stard9 A T 2: 120,534,639 (GRCm39) K3632M probably damaging Het
Swt1 A T 1: 151,264,428 (GRCm39) D695E probably damaging Het
Tead3 T A 17: 28,552,228 (GRCm39) M357L probably benign Het
Tgfbi A T 13: 56,775,829 (GRCm39) T292S probably damaging Het
Tmc7 T C 7: 118,155,157 (GRCm39) H247R probably benign Het
Trmt10b T A 4: 45,308,549 (GRCm39) D236E probably damaging Het
Tshz1 C A 18: 84,034,052 (GRCm39) V119L probably damaging Het
Ttn A C 2: 76,658,258 (GRCm39) V12374G unknown Het
Tubgcp2 A G 7: 139,585,274 (GRCm39) Y484H probably damaging Het
Ubr4 G C 4: 139,177,824 (GRCm39) A1947P Het
Uggt1 A C 1: 36,194,188 (GRCm39) V1350G probably benign Het
Vmn1r173 A T 7: 23,402,076 (GRCm39) M104L probably benign Het
Xirp1 A T 9: 119,848,113 (GRCm39) C257S probably damaging Het
Zfyve26 A G 12: 79,327,179 (GRCm39) S724P probably damaging Het
Zmpste24 A T 4: 120,940,091 (GRCm39) L185Q probably null Het
Zpld1 G A 16: 55,052,594 (GRCm39) A340V 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
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'- CCATCATGATCGCCTGTGTGAG -3'
(R):5'- CTCAGCCTGCACTGGTTTTG -3'

Sequencing Primer
(F):5'- TGTGTGAGCCCCTCGGATC -3'
(R):5'- AGTACTGGGACCCACATCTGATG -3'
Posted On 2019-06-26