Incidental Mutation 'IGL00971:Kif16b'
ID27002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif16b
Ensembl Gene ENSMUSG00000038844
Gene Namekinesin family member 16B
Synonyms8430434E15Rik, N-3 kinesin
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00971
Quality Score
Status
Chromosome2
Chromosomal Location142617474-142901531 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 142711744 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 1045 (Q1045K)
Ref Sequence ENSEMBL: ENSMUSP00000148731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043589] [ENSMUST00000211861] [ENSMUST00000230763]
Predicted Effect probably benign
Transcript: ENSMUST00000043589
AA Change: Q1045K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000042551
Gene: ENSMUSG00000038844
AA Change: Q1045K

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: Q1045K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000230763
AA Change: Q1056K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
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
4930596D02Rik C T 14: 35,810,213 C135Y possibly damaging Het
Afdn T A 17: 13,852,313 probably benign Het
Akap10 A G 11: 61,904,796 V347A possibly damaging Het
Ankrd11 A G 8: 122,895,353 S587P probably damaging Het
Ces1g T C 8: 93,303,032 Y524C probably damaging Het
Cubn T C 2: 13,278,408 N3573S possibly damaging Het
Cyp1a1 G T 9: 57,700,707 C206F probably damaging Het
Fam166b A G 4: 43,428,377 L51P probably damaging Het
Fbxo30 T C 10: 11,290,298 Y255H probably benign Het
Ggnbp2 T C 11: 84,840,404 I295V possibly damaging Het
Gm8979 G A 7: 106,081,801 noncoding transcript Het
Gpatch8 A G 11: 102,479,917 Y932H unknown Het
Heatr6 C T 11: 83,759,309 P197L probably damaging Het
Helb T C 10: 120,094,263 D737G possibly damaging Het
Helz A T 11: 107,663,653 I1226F possibly damaging Het
Ipo11 A T 13: 106,856,769 I749N probably damaging Het
Ipo13 T C 4: 117,914,367 E2G possibly damaging Het
Jam3 A C 9: 27,101,892 D127E probably damaging Het
Kin T C 2: 10,090,348 W121R possibly damaging Het
Man1b1 T G 2: 25,343,325 S237A possibly damaging Het
Mmel1 C T 4: 154,887,832 probably benign Het
Morn4 T C 19: 42,076,120 N143S possibly damaging Het
Nlrp4b A G 7: 10,714,955 T362A possibly damaging Het
Ntpcr C T 8: 125,747,762 T153M probably damaging Het
Olfr62 T A 4: 118,666,278 F254I probably damaging Het
Pdzd2 A G 15: 12,374,718 L1777P probably benign Het
Postn A G 3: 54,369,276 N192S possibly damaging Het
Prkar1a A T 11: 109,661,051 Y122F probably benign Het
Serpinb7 A G 1: 107,428,246 probably benign Het
Setd3 A T 12: 108,160,237 I121N probably damaging Het
Slamf7 T A 1: 171,639,242 I132L probably benign Het
Syt4 T C 18: 31,447,174 probably benign Het
Tesc G A 5: 118,056,439 probably null Het
Tsc1 C A 2: 28,670,940 S270* probably null Het
Wap C A 11: 6,636,808 C97F probably damaging Het
Zfp451 A G 1: 33,783,153 S155P probably benign Het
Zfp469 A G 8: 122,269,733 probably benign Het
Zfp51 C T 17: 21,463,582 T153M probably benign Het
Zfp579 A G 7: 4,993,391 I507T probably damaging Het
Other mutations in Kif16b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Kif16b APN 2 142848035 nonsense probably null
IGL00499:Kif16b APN 2 142857324 missense probably damaging 1.00
IGL00913:Kif16b APN 2 142704007 nonsense probably null
IGL01712:Kif16b APN 2 142648471 missense probably damaging 1.00
IGL01965:Kif16b APN 2 142848405 missense probably damaging 1.00
IGL02428:Kif16b APN 2 142672360 missense possibly damaging 0.88
IGL02576:Kif16b APN 2 142862545 splice site probably benign
IGL02884:Kif16b APN 2 142702614 splice site probably benign
IGL03065:Kif16b APN 2 142619913 missense probably damaging 1.00
IGL03103:Kif16b APN 2 142862488 missense probably damaging 1.00
IGL03403:Kif16b APN 2 142711869 missense probably damaging 1.00
IGL02835:Kif16b UTSW 2 142712213 missense probably benign 0.00
R0058:Kif16b UTSW 2 142857305 splice site probably null
R0058:Kif16b UTSW 2 142857305 splice site probably null
R0081:Kif16b UTSW 2 142707426 splice site probably benign
R0123:Kif16b UTSW 2 142672375 missense probably benign
R0134:Kif16b UTSW 2 142672375 missense probably benign
R0388:Kif16b UTSW 2 142740937 missense probably damaging 1.00
R0396:Kif16b UTSW 2 142853659 missense probably damaging 1.00
R0502:Kif16b UTSW 2 142712155 missense probably benign 0.00
R1027:Kif16b UTSW 2 142854538 splice site probably benign
R1674:Kif16b UTSW 2 142712953 nonsense probably null
R1752:Kif16b UTSW 2 142690666 missense probably benign 0.01
R2154:Kif16b UTSW 2 142690580 missense probably damaging 1.00
R2262:Kif16b UTSW 2 142740917 missense probably damaging 1.00
R2401:Kif16b UTSW 2 142756122 missense probably benign 0.04
R3951:Kif16b UTSW 2 142707359 missense probably benign 0.01
R4161:Kif16b UTSW 2 142707404 missense probably benign 0.00
R4697:Kif16b UTSW 2 142690694 missense probably benign 0.09
R4747:Kif16b UTSW 2 142857426 missense probably damaging 1.00
R4808:Kif16b UTSW 2 142857358 missense probably damaging 1.00
R4878:Kif16b UTSW 2 142848003 missense probably damaging 1.00
R5068:Kif16b UTSW 2 142711707 missense probably benign
R5120:Kif16b UTSW 2 142848339 missense probably damaging 1.00
R5358:Kif16b UTSW 2 142740969 missense probably damaging 1.00
R5821:Kif16b UTSW 2 142702666 missense probably damaging 1.00
R5833:Kif16b UTSW 2 142707367 missense probably benign
R5882:Kif16b UTSW 2 142707258 critical splice donor site probably null
R5974:Kif16b UTSW 2 142857381 missense probably damaging 1.00
R6043:Kif16b UTSW 2 142711900 missense probably damaging 1.00
R6230:Kif16b UTSW 2 142849912 missense probably damaging 1.00
R6373:Kif16b UTSW 2 142699698 missense possibly damaging 0.91
R6472:Kif16b UTSW 2 142699948 intron probably benign
R6622:Kif16b UTSW 2 142712442 missense probably benign 0.01
R6654:Kif16b UTSW 2 142701277 intron probably benign
R6912:Kif16b UTSW 2 142700099 intron probably benign
R7003:Kif16b UTSW 2 142758829 missense possibly damaging 0.95
R7265:Kif16b UTSW 2 142714730 missense probably damaging 1.00
R7307:Kif16b UTSW 2 142712931 missense probably benign 0.00
X0058:Kif16b UTSW 2 142758861 missense probably damaging 1.00
Posted On2013-04-17