Incidental Mutation 'R7307:Kif16b'
ID 567291
Institutional Source Beutler Lab
Gene Symbol Kif16b
Ensembl Gene ENSMUSG00000038844
Gene Name kinesin family member 16B
Synonyms N-3 kinesin, 8430434E15Rik
MMRRC Submission 045366-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7307 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 142460260-142743535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 142554851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 649 (R649Q)
Ref Sequence ENSEMBL: ENSMUSP00000042551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043589] [ENSMUST00000211861] [ENSMUST00000230763]
AlphaFold B1AVY7
Predicted Effect probably benign
Transcript: ENSMUST00000043589
AA Change: R649Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: R649Q

DomainStartEndE-ValueType
KISc 1 366 4.87e-173 SMART
FHA 477 529 1.43e-1 SMART
coiled coil region 597 809 N/A INTRINSIC
coiled coil region 835 858 N/A INTRINSIC
coiled coil region 941 1022 N/A INTRINSIC
PX 1179 1281 1.58e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000211861
AA Change: R649Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000230763
AA Change: R660Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Chimera embryos containing a knock-out allele and derived from tetraploid rescue exhibit lethal growth arrest at the blastocyst stage with abnormal development of the primitive endoderm, epiblast epithelium, and basement membrane. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 16,936,259 (GRCm39) P155L probably benign Het
Adamts12 G T 15: 11,217,899 (GRCm39) L285F probably damaging Het
Ankrd6 A T 4: 32,816,949 (GRCm39) Y393N possibly damaging Het
Arhgap45 A G 10: 79,865,016 (GRCm39) Q993R probably benign Het
Arhgef33 G C 17: 80,654,549 (GRCm39) probably null Het
B4galnt3 T C 6: 120,192,392 (GRCm39) D448G probably benign Het
Capn1 C G 19: 6,043,938 (GRCm39) E564D possibly damaging Het
Ccdc85a A G 11: 28,349,384 (GRCm39) S474P probably benign Het
Cdk12 T A 11: 98,140,626 (GRCm39) L1289* probably null Het
Cramp1 A T 17: 25,193,719 (GRCm39) N920K possibly damaging Het
Cubn C T 2: 13,345,143 (GRCm39) S2091N probably damaging Het
Ddx1 A T 12: 13,273,960 (GRCm39) I581N probably damaging Het
Dnm2 A T 9: 21,396,983 (GRCm39) N487Y probably damaging Het
Enc1 A C 13: 97,381,601 (GRCm39) N37T probably damaging Het
Ephb3 T G 16: 21,040,976 (GRCm39) I932S probably benign Het
Frk T A 10: 34,467,934 (GRCm39) M316K probably damaging Het
Gdap2 C T 3: 100,109,349 (GRCm39) R25C unknown Het
Gpat2 T A 2: 127,276,810 (GRCm39) D671E probably damaging Het
Gpr179 C T 11: 97,229,672 (GRCm39) E828K probably benign Het
Greb1l T C 18: 10,538,142 (GRCm39) Y1052H probably damaging Het
Gtf2f1 C T 17: 57,314,833 (GRCm39) S69N probably damaging Het
Hid1 A C 11: 115,239,308 (GRCm39) I785S probably damaging Het
Hmcn2 T C 2: 31,233,093 (GRCm39) I214T probably damaging Het
Hsd3b5 G T 3: 98,527,085 (GRCm39) F120L probably damaging Het
Kif17 A T 4: 137,989,954 (GRCm39) E47D probably benign Het
Kmt2b T C 7: 30,279,896 (GRCm39) H1368R probably damaging Het
Kmt2d A T 15: 98,747,299 (GRCm39) S3342T unknown Het
Krt82 A G 15: 101,451,342 (GRCm39) C356R probably damaging Het
Lrit2 A G 14: 36,794,156 (GRCm39) K407E probably benign Het
Malt1 T A 18: 65,584,640 (GRCm39) H325Q possibly damaging Het
Mccc2 T G 13: 100,125,108 (GRCm39) D187A possibly damaging Het
Mgll T A 6: 88,791,103 (GRCm39) probably null Het
Mindy2 T G 9: 70,518,241 (GRCm39) E449A possibly damaging Het
Muc5b G A 7: 141,396,031 (GRCm39) V96M unknown Het
Nlrp4e A G 7: 23,020,953 (GRCm39) E480G probably benign Het
Nup98 A G 7: 101,784,002 (GRCm39) I1093T probably benign Het
Or13a26 G A 7: 140,285,060 (GRCm39) V299I probably benign Het
Or1j4 G A 2: 36,740,137 (GRCm39) M26I probably benign Het
Or4g7 A T 2: 111,309,105 (GRCm39) probably benign Het
Or52a20 G T 7: 103,366,173 (GRCm39) R124L probably damaging Het
Pcdhb6 A T 18: 37,468,531 (GRCm39) H484L probably benign Het
Phldb1 T C 9: 44,605,344 (GRCm39) T604A possibly damaging Het
Pitpnm3 G T 11: 71,961,790 (GRCm39) A275D probably damaging Het
Polr2a A T 11: 69,638,118 (GRCm39) probably null Het
Polr3a A G 14: 24,510,055 (GRCm39) C960R probably benign Het
Pou6f2 G A 13: 18,414,298 (GRCm39) A159V Het
Pramel11 A C 4: 143,623,345 (GRCm39) Y276* probably null Het
Pramel51 A C 12: 88,148,519 (GRCm39) C32W probably damaging Het
Psmc4 A G 7: 27,742,085 (GRCm39) V303A probably benign Het
Ptdss2 A G 7: 140,731,645 (GRCm39) N151S possibly damaging Het
Ptprk T A 10: 28,465,004 (GRCm39) Y1295* probably null Het
Rbm19 A G 5: 120,324,283 (GRCm39) K881E possibly damaging Het
Rcan2 T A 17: 44,331,993 (GRCm39) Y183* probably null Het
Rnd1 T C 15: 98,568,680 (GRCm39) E166G probably damaging Het
Rnf113a2 T A 12: 84,464,953 (GRCm39) C282S probably damaging Het
S100b G A 10: 76,092,926 (GRCm39) G20R probably benign Het
Sae1 G T 7: 16,102,469 (GRCm39) Y168* probably null Het
Samd9l C A 6: 3,372,600 (GRCm39) G1554* probably null Het
Samhd1 T C 2: 156,976,940 (GRCm39) S55G probably benign Het
Sgsm1 T C 5: 113,421,512 (GRCm39) D525G probably benign Het
Slc28a3 A T 13: 58,710,986 (GRCm39) M512K probably damaging Het
Slc9b2 T A 3: 135,024,151 (GRCm39) N67K probably benign Het
Smarca4 T A 9: 21,550,096 (GRCm39) I402N probably damaging Het
St7l T C 3: 104,796,669 (GRCm39) F261L probably benign Het
Syde2 T A 3: 145,721,553 (GRCm39) V1140D probably damaging Het
Syt6 T A 3: 103,494,788 (GRCm39) I251N probably damaging Het
Taok2 T C 7: 126,465,990 (GRCm39) E916G probably damaging Het
Tecta A G 9: 42,289,288 (GRCm39) S426P probably damaging Het
Thra T C 11: 98,655,134 (GRCm39) I338T probably damaging Het
Trub1 A T 19: 57,461,135 (GRCm39) Y137F probably damaging Het
Vps13b T C 15: 35,841,691 (GRCm39) F2574L probably benign Het
Ythdf3 T C 3: 16,237,664 (GRCm39) S2P possibly damaging Het
Zc3h13 T A 14: 75,567,981 (GRCm39) D1091E probably damaging Het
Zdhhc6 A G 19: 55,301,682 (GRCm39) Y100H probably damaging Het
Other mutations in Kif16b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Kif16b APN 2 142,689,955 (GRCm39) nonsense probably null
IGL00499:Kif16b APN 2 142,699,244 (GRCm39) missense probably damaging 1.00
IGL00913:Kif16b APN 2 142,545,927 (GRCm39) nonsense probably null
IGL00971:Kif16b APN 2 142,553,664 (GRCm39) missense probably benign 0.01
IGL01712:Kif16b APN 2 142,490,391 (GRCm39) missense probably damaging 1.00
IGL01965:Kif16b APN 2 142,690,325 (GRCm39) missense probably damaging 1.00
IGL02428:Kif16b APN 2 142,514,280 (GRCm39) missense possibly damaging 0.88
IGL02576:Kif16b APN 2 142,704,465 (GRCm39) splice site probably benign
IGL02884:Kif16b APN 2 142,544,534 (GRCm39) splice site probably benign
IGL03065:Kif16b APN 2 142,461,833 (GRCm39) missense probably damaging 1.00
IGL03103:Kif16b APN 2 142,704,408 (GRCm39) missense probably damaging 1.00
IGL03403:Kif16b APN 2 142,553,789 (GRCm39) missense probably damaging 1.00
IGL02835:Kif16b UTSW 2 142,554,133 (GRCm39) missense probably benign 0.00
R0058:Kif16b UTSW 2 142,699,225 (GRCm39) splice site probably null
R0058:Kif16b UTSW 2 142,699,225 (GRCm39) splice site probably null
R0081:Kif16b UTSW 2 142,549,346 (GRCm39) splice site probably benign
R0123:Kif16b UTSW 2 142,514,295 (GRCm39) missense probably benign
R0134:Kif16b UTSW 2 142,514,295 (GRCm39) missense probably benign
R0388:Kif16b UTSW 2 142,582,857 (GRCm39) missense probably damaging 1.00
R0396:Kif16b UTSW 2 142,695,579 (GRCm39) missense probably damaging 1.00
R0502:Kif16b UTSW 2 142,554,075 (GRCm39) missense probably benign 0.00
R1027:Kif16b UTSW 2 142,696,458 (GRCm39) splice site probably benign
R1674:Kif16b UTSW 2 142,554,873 (GRCm39) nonsense probably null
R1752:Kif16b UTSW 2 142,532,586 (GRCm39) missense probably benign 0.01
R2154:Kif16b UTSW 2 142,532,500 (GRCm39) missense probably damaging 1.00
R2262:Kif16b UTSW 2 142,582,837 (GRCm39) missense probably damaging 1.00
R2401:Kif16b UTSW 2 142,598,042 (GRCm39) missense probably benign 0.04
R3951:Kif16b UTSW 2 142,549,279 (GRCm39) missense probably benign 0.01
R4161:Kif16b UTSW 2 142,549,324 (GRCm39) missense probably benign 0.00
R4697:Kif16b UTSW 2 142,532,614 (GRCm39) missense probably benign 0.09
R4747:Kif16b UTSW 2 142,699,346 (GRCm39) missense probably damaging 1.00
R4808:Kif16b UTSW 2 142,699,278 (GRCm39) missense probably damaging 1.00
R4878:Kif16b UTSW 2 142,689,923 (GRCm39) missense probably damaging 1.00
R5068:Kif16b UTSW 2 142,553,627 (GRCm39) missense probably benign
R5120:Kif16b UTSW 2 142,690,259 (GRCm39) missense probably damaging 1.00
R5358:Kif16b UTSW 2 142,582,889 (GRCm39) missense probably damaging 1.00
R5821:Kif16b UTSW 2 142,544,586 (GRCm39) missense probably damaging 1.00
R5833:Kif16b UTSW 2 142,549,287 (GRCm39) missense probably benign
R5882:Kif16b UTSW 2 142,549,178 (GRCm39) critical splice donor site probably null
R5974:Kif16b UTSW 2 142,699,301 (GRCm39) missense probably damaging 1.00
R6043:Kif16b UTSW 2 142,553,820 (GRCm39) missense probably damaging 1.00
R6230:Kif16b UTSW 2 142,691,832 (GRCm39) missense probably damaging 1.00
R6373:Kif16b UTSW 2 142,541,618 (GRCm39) missense possibly damaging 0.91
R6472:Kif16b UTSW 2 142,541,868 (GRCm39) intron probably benign
R6622:Kif16b UTSW 2 142,554,362 (GRCm39) missense probably benign 0.01
R6654:Kif16b UTSW 2 142,543,197 (GRCm39) intron probably benign
R6912:Kif16b UTSW 2 142,542,019 (GRCm39) intron probably benign
R7003:Kif16b UTSW 2 142,600,749 (GRCm39) missense possibly damaging 0.95
R7265:Kif16b UTSW 2 142,556,650 (GRCm39) missense probably damaging 1.00
R7376:Kif16b UTSW 2 142,553,792 (GRCm39) missense probably damaging 0.99
R7381:Kif16b UTSW 2 142,699,343 (GRCm39) missense probably damaging 1.00
R7558:Kif16b UTSW 2 142,600,746 (GRCm39) missense probably damaging 1.00
R7681:Kif16b UTSW 2 142,598,046 (GRCm39) missense probably damaging 1.00
R7896:Kif16b UTSW 2 142,675,995 (GRCm39) critical splice donor site probably null
R7956:Kif16b UTSW 2 142,704,390 (GRCm39) missense probably benign 0.00
R8053:Kif16b UTSW 2 142,695,634 (GRCm39) missense probably damaging 1.00
R8056:Kif16b UTSW 2 142,554,762 (GRCm39) missense probably damaging 1.00
R8139:Kif16b UTSW 2 142,743,285 (GRCm39) missense probably benign 0.00
R8182:Kif16b UTSW 2 142,554,819 (GRCm39) missense possibly damaging 0.90
R8224:Kif16b UTSW 2 142,676,008 (GRCm39) missense probably benign 0.03
R8357:Kif16b UTSW 2 142,553,828 (GRCm39) missense probably damaging 1.00
R8359:Kif16b UTSW 2 142,553,777 (GRCm39) missense probably benign 0.05
R8360:Kif16b UTSW 2 142,553,777 (GRCm39) missense probably benign 0.05
R8369:Kif16b UTSW 2 142,553,777 (GRCm39) missense probably benign 0.05
R8385:Kif16b UTSW 2 142,554,258 (GRCm39) missense probably benign 0.09
R8457:Kif16b UTSW 2 142,553,828 (GRCm39) missense probably damaging 1.00
R8720:Kif16b UTSW 2 142,691,792 (GRCm39) missense probably damaging 1.00
R8898:Kif16b UTSW 2 142,554,899 (GRCm39) missense possibly damaging 0.81
R8987:Kif16b UTSW 2 142,743,278 (GRCm39) missense probably benign 0.00
R8987:Kif16b UTSW 2 142,691,783 (GRCm39) critical splice donor site probably null
R9022:Kif16b UTSW 2 142,554,537 (GRCm39) missense possibly damaging 0.46
R9040:Kif16b UTSW 2 142,691,798 (GRCm39) missense probably benign 0.02
R9044:Kif16b UTSW 2 142,541,577 (GRCm39) missense possibly damaging 0.91
R9138:Kif16b UTSW 2 142,542,476 (GRCm39) missense
R9167:Kif16b UTSW 2 142,542,840 (GRCm39) nonsense probably null
R9218:Kif16b UTSW 2 142,541,583 (GRCm39) missense possibly damaging 0.77
R9283:Kif16b UTSW 2 142,554,900 (GRCm39) missense probably benign 0.00
R9300:Kif16b UTSW 2 142,541,207 (GRCm39) missense probably benign
R9378:Kif16b UTSW 2 142,461,738 (GRCm39) nonsense probably null
R9522:Kif16b UTSW 2 142,691,827 (GRCm39) missense probably damaging 0.96
R9588:Kif16b UTSW 2 142,553,804 (GRCm39) missense possibly damaging 0.82
R9632:Kif16b UTSW 2 142,553,960 (GRCm39) missense probably benign 0.00
R9641:Kif16b UTSW 2 142,542,589 (GRCm39) missense probably benign 0.01
X0058:Kif16b UTSW 2 142,600,781 (GRCm39) missense probably damaging 1.00
Z1177:Kif16b UTSW 2 142,553,744 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGACCTTCTCAGCTTGTTCG -3'
(R):5'- TCCAGTTAGGGAGAAGTTGGAC -3'

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