Incidental Mutation 'R7156:Kif21b'
ID 557273
Institutional Source Beutler Lab
Gene Symbol Kif21b
Ensembl Gene ENSMUSG00000041642
Gene Name kinesin family member 21B
Synonyms 2610511N21Rik, N-5 kinesin
MMRRC Submission 045257-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R7156 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 136059127-136105736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 136075562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 230 (T230P)
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: T230P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074661
Gene: ENSMUSG00000041642
AA Change: T230P

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: T230P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114297
Gene: ENSMUSG00000041642
AA Change: T230P

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 0.9043 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T C 7: 40,643,282 (GRCm39) I317T possibly damaging Het
Acsl5 G A 19: 55,257,260 (GRCm39) probably null Het
Ahrr G A 13: 74,378,035 (GRCm39) T136I probably damaging Het
AI597479 G A 1: 43,150,261 (GRCm39) D124N probably damaging Het
Arap2 G T 5: 62,761,914 (GRCm39) A1604D probably damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Cadps2 T C 6: 23,688,955 (GRCm39) N118S probably benign Het
Caskin1 T A 17: 24,719,657 (GRCm39) probably null Het
Cc2d1a C T 8: 84,862,389 (GRCm39) V684M possibly damaging Het
Ccdc91 T C 6: 147,435,676 (GRCm39) S87P possibly damaging Het
Cdr2l A G 11: 115,281,792 (GRCm39) Q99R probably benign Het
Celsr3 T C 9: 108,715,203 (GRCm39) L2066P possibly damaging Het
Cep95 A C 11: 106,700,050 (GRCm39) L313F possibly damaging Het
Chst10 G A 1: 38,913,088 (GRCm39) T63M probably damaging Het
Clrn2 G A 5: 45,611,258 (GRCm39) G36R probably damaging Het
Cnn2 T G 10: 79,830,349 (GRCm39) Y273* probably null Het
Crtap T C 9: 114,207,164 (GRCm39) T365A probably benign Het
D630045J12Rik T C 6: 38,171,964 (GRCm39) T735A possibly damaging Het
Disp2 C T 2: 118,622,292 (GRCm39) A1008V probably damaging Het
Dmrt3 A G 19: 25,588,317 (GRCm39) D52G probably damaging Het
Dmrta1 T G 4: 89,576,700 (GRCm39) L52R probably damaging Het
Dmrta2 A G 4: 109,839,185 (GRCm39) T311A probably damaging Het
Dnm1 T A 2: 32,230,479 (GRCm39) N112Y probably damaging Het
Dysf T C 6: 84,064,858 (GRCm39) probably null Het
Ep400 A G 5: 110,833,229 (GRCm39) F2034L unknown Het
F12 G A 13: 55,566,310 (GRCm39) A494V probably damaging Het
Fbp2 A T 13: 62,989,675 (GRCm39) F210L probably benign Het
Fbxo31 T A 8: 122,281,060 (GRCm39) Q362L possibly damaging Het
Fkbp4 C T 6: 128,412,787 (GRCm39) A95T probably benign Het
Frmd6 T G 12: 70,923,983 (GRCm39) C80W probably damaging Het
Fsip2 A G 2: 82,813,085 (GRCm39) I3135V probably benign Het
Garre1 G T 7: 33,945,133 (GRCm39) N582K possibly damaging Het
Guca2b T A 4: 119,514,887 (GRCm39) E34V probably damaging Het
Hdlbp G A 1: 93,341,637 (GRCm39) T974I probably damaging Het
Hsdl2 T A 4: 59,617,653 (GRCm39) M460K possibly damaging Het
Ift172 C T 5: 31,429,419 (GRCm39) V581M probably damaging Het
Ift74 A G 4: 94,549,189 (GRCm39) K313R possibly damaging Het
Ints4 T A 7: 97,184,493 (GRCm39) probably null Het
Iqca1l C T 5: 24,757,648 (GRCm39) E150K probably benign Het
Kit A T 5: 75,776,034 (GRCm39) Y272F probably benign Het
Krt77 G A 15: 101,773,931 (GRCm39) T241M probably benign Het
Lce1j T A 3: 92,696,491 (GRCm39) S96C unknown Het
Marveld3 T A 8: 110,674,820 (GRCm39) D332V probably damaging Het
Matr3 G T 18: 35,705,974 (GRCm39) V300F probably damaging Het
Mical1 T A 10: 41,361,253 (GRCm39) probably null Het
Mslnl T A 17: 25,962,184 (GRCm39) V194E probably benign Het
Mug1 C A 6: 121,857,864 (GRCm39) T1119K probably damaging Het
Mug1 C T 6: 121,861,302 (GRCm39) P1308S probably damaging Het
Neb C A 2: 52,195,295 (GRCm39) probably null Het
Neo1 T A 9: 58,810,206 (GRCm39) T1082S probably damaging Het
Nkx6-2 C T 7: 139,162,045 (GRCm39) probably null Het
Or10g6 T C 9: 39,934,526 (GRCm39) I279T probably benign Het
Or8k27 T A 2: 86,275,652 (GRCm39) I225L probably damaging Het
Orc1 A T 4: 108,452,656 (GRCm39) E177V probably benign Het
Parp1 G A 1: 180,426,629 (GRCm39) V924I possibly damaging Het
Pax2 A T 19: 44,777,298 (GRCm39) I165F probably benign Het
Pnma2 C T 14: 67,153,980 (GRCm39) P135S probably benign Het
Ranbp17 A G 11: 33,247,420 (GRCm39) I718T probably damaging Het
Rbm25 T A 12: 83,710,965 (GRCm39) D359E unknown Het
Rgs3 T C 4: 62,535,363 (GRCm39) L194P probably damaging Het
Serpinb6b A G 13: 33,155,598 (GRCm39) I104V probably benign Het
Smg9 A G 7: 24,120,286 (GRCm39) D420G probably benign Het
Smpd1 C T 7: 105,203,693 (GRCm39) probably benign Het
Snx17 T A 5: 31,354,692 (GRCm39) M318K probably damaging Het
Spata31e5 A T 1: 28,815,848 (GRCm39) M728K possibly damaging Het
Stard10 G A 7: 100,995,258 (GRCm39) D337N probably damaging Het
Tex14 A G 11: 87,375,545 (GRCm39) T103A probably damaging Het
Tle1 A G 4: 72,088,953 (GRCm39) S97P probably benign Het
Tnfrsf8 T A 4: 145,041,654 (GRCm39) M1L unknown Het
Traf3ip2 T C 10: 39,502,173 (GRCm39) L107P possibly damaging Het
Trpc7 A T 13: 56,937,579 (GRCm39) S626T possibly damaging Het
Ubl7 T A 9: 57,837,039 (GRCm39) I350N probably damaging Het
Ubr3 T A 2: 69,851,967 (GRCm39) I1878N probably damaging Het
Usp24 G T 4: 106,245,116 (GRCm39) probably null Het
Vcan A T 13: 89,837,229 (GRCm39) S2772T possibly damaging Het
Vmn2r79 T C 7: 86,686,851 (GRCm39) V744A probably damaging Het
Wbp2nl T C 15: 82,189,903 (GRCm39) S32P probably damaging Het
Wwc1 A G 11: 35,788,201 (GRCm39) probably null Het
Zfp629 C T 7: 127,211,463 (GRCm39) W115* 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
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
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'- TGAGCATCTTATACATGGGCATC -3'
(R):5'- GACACTGCTGGGACACACTAAC -3'

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