Incidental Mutation 'R4161:Kif16b'
ID 321511
Institutional Source Beutler Lab
Gene Symbol Kif16b
Ensembl Gene ENSMUSG00000038844
Gene Name kinesin family member 16B
Synonyms N-3 kinesin, 8430434E15Rik
MMRRC Submission 041004-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4161 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 142460260-142743535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 142549324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 1064 (H1064Y)
Ref Sequence ENSEMBL: ENSMUSP00000148731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043589] [ENSMUST00000211861] [ENSMUST00000230763]
AlphaFold B1AVY7
Predicted Effect probably benign
Transcript: ENSMUST00000043589
AA Change: H1064Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: H1064Y

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: H1064Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000212106
Predicted Effect probably benign
Transcript: ENSMUST00000230763
AA Change: H1075Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 95% (39/41)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 A G 9: 121,738,588 (GRCm39) Y321C probably benign Het
Angptl3 T C 4: 98,919,728 (GRCm39) S163P probably damaging Het
Ankle2 T C 5: 110,382,234 (GRCm39) M70T probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Ano8 A T 8: 71,935,281 (GRCm39) I339N probably damaging Het
Bltp3a A G 17: 28,103,061 (GRCm39) Y365C probably damaging Het
Cxcl2 A T 5: 91,051,881 (GRCm39) probably null Het
Exosc3 T C 4: 45,320,619 (GRCm39) probably benign Het
Fads2b C A 2: 85,348,853 (GRCm39) K86N probably damaging Het
Fat1 G A 8: 45,489,824 (GRCm39) A3579T probably benign Het
Fat4 G A 3: 38,996,958 (GRCm39) V1726I possibly damaging Het
Grm7 A G 6: 111,230,981 (GRCm39) N468S probably damaging Het
Hmgcll1 A T 9: 75,982,198 (GRCm39) probably benign Het
Igkv3-12 T A 6: 70,495,542 (GRCm39) V23E probably benign Het
Irx6 T C 8: 93,402,919 (GRCm39) C95R possibly damaging Het
Lrrc45 A T 11: 120,609,272 (GRCm39) D377V possibly damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pds5a T C 5: 65,821,839 (GRCm39) T120A possibly damaging Het
Phf8-ps G A 17: 33,285,023 (GRCm39) T593I probably benign Het
Plec T C 15: 76,063,851 (GRCm39) E2141G possibly damaging Het
Pou6f1 A G 15: 100,478,724 (GRCm39) S395P probably damaging Het
Prss12 A T 3: 123,279,176 (GRCm39) K418* probably null Het
Rtn3 G A 19: 7,460,444 (GRCm39) A2V probably benign Het
Rubcnl A G 14: 75,281,898 (GRCm39) T452A possibly damaging Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Senp7 C A 16: 55,973,832 (GRCm39) P351Q possibly damaging Het
Slco1a7 T C 6: 141,654,322 (GRCm39) K647E probably benign Het
Spred3 A G 7: 28,861,210 (GRCm39) L323P probably damaging Het
Srprb A G 9: 103,078,529 (GRCm39) F67S possibly damaging Het
Tk2 T C 8: 104,965,465 (GRCm39) S101G probably benign Het
Tnxb A G 17: 34,930,491 (GRCm39) T2059A probably damaging Het
Trpm7 A G 2: 126,658,751 (GRCm39) L1135P probably damaging Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Usp38 C T 8: 81,719,967 (GRCm39) A421T probably damaging Het
Vcan G T 13: 89,833,277 (GRCm39) N3058K probably damaging Het
Vmn1r221 G A 13: 23,402,176 (GRCm39) noncoding transcript Het
Vps11 C G 9: 44,267,017 (GRCm39) G406A probably damaging Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zbtb10 T C 3: 9,345,356 (GRCm39) S707P 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
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
R7307:Kif16b UTSW 2 142,554,851 (GRCm39) missense probably benign 0.00
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'- TGGCATCAGCTGAATGTTGAG -3'
(R):5'- GGATGCCTGAAACTCTTGTTC -3'

Sequencing Primer
(F):5'- GAATGTTGAGTACCTGGCATCCATC -3'
(R):5'- GATGCCTGAAACTCTTGTTCTGTGC -3'
Posted On 2015-06-12