Incidental Mutation 'R2176:Kif6'
ID236910
Institutional Source Beutler Lab
Gene Symbol Kif6
Ensembl Gene ENSMUSG00000023999
Gene Namekinesin family member 6
Synonyms
MMRRC Submission 040178-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #R2176 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location49615136-49909847 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 49755230 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 473 (E473K)
Ref Sequence ENSEMBL: ENSMUSP00000124674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162854]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000024798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162419
Predicted Effect probably damaging
Transcript: ENSMUST00000162854
AA Change: E473K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124674
Gene: ENSMUSG00000023999
AA Change: E473K

DomainStartEndE-ValueType
KISc 3 353 1.67e-121 SMART
coiled coil region 358 385 N/A INTRINSIC
Blast:KISc 400 606 1e-85 BLAST
Meta Mutation Damage Score 0.206 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
MGI Phenotype PHENOTYPE: Mice homozgyos for an ENU-induced allele exhibit normal exercise capacity and cardiac function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik A G 9: 103,259,367 probably benign Het
Adam1a T A 5: 121,519,586 Y548F probably benign Het
Armc9 T C 1: 86,199,892 L83P probably damaging Het
BC051665 A T 13: 60,784,530 probably benign Het
Casp3 A G 8: 46,629,756 N3S probably damaging Het
Ccdc174 G A 6: 91,888,089 M109I probably benign Het
Ccr6 T A 17: 8,256,241 F93I probably damaging Het
Clvs2 T C 10: 33,595,815 S165G probably damaging Het
Cntnap5c T C 17: 58,013,946 V171A probably benign Het
Dennd5a C A 7: 109,905,120 probably null Het
Dock2 T A 11: 34,695,217 Y546F probably benign Het
Fat2 A G 11: 55,267,575 probably null Het
Focad T A 4: 88,279,244 Y625N unknown Het
Fyb A G 15: 6,579,954 K3E probably damaging Het
Gm14496 G A 2: 181,991,337 D38N probably benign Het
Gm20403 T C 12: 54,986,370 T54A probably benign Het
Gm9830 A G 9: 44,464,259 noncoding transcript Het
Hectd1 A T 12: 51,745,494 S2487R probably damaging Het
Il5ra A G 6: 106,738,272 L175S probably benign Het
Itgav C T 2: 83,803,255 R983C probably damaging Het
Kcna10 T C 3: 107,194,716 V221A probably damaging Het
Kif13b G A 14: 64,669,671 V35I probably benign Het
Mfsd14a T C 3: 116,632,393 T452A probably benign Het
Mllt1 A G 17: 56,897,398 S382P probably benign Het
Myo15b T C 11: 115,866,572 W1083R probably damaging Het
Nell2 T C 15: 95,435,157 I174V probably damaging Het
Noct G A 3: 51,249,696 probably null Het
Nvl A T 1: 181,135,074 probably benign Het
Ofcc1 T C 13: 40,097,119 S574G probably benign Het
Olfr1248 A T 2: 89,617,580 M204K possibly damaging Het
Olfr512 G A 7: 108,714,132 V248I probably damaging Het
Olfr749 T C 14: 50,736,224 M313V probably benign Het
Pip5k1a A T 3: 95,065,496 S415T probably damaging Het
Pkhd1 G A 1: 20,553,517 P785S probably damaging Het
Plcg2 A G 8: 117,612,994 Y1048C probably damaging Het
Ppp3cb A T 14: 20,520,652 V337E probably benign Het
Prkg2 T C 5: 98,966,509 probably benign Het
Prl7a2 T G 13: 27,659,106 Y238S probably benign Het
Psg28 T A 7: 18,427,879 D233V probably damaging Het
Rad50 A G 11: 53,698,209 C221R probably benign Het
Rgl3 A G 9: 21,975,958 probably benign Het
Rgsl1 T A 1: 153,825,268 probably benign Het
Ror1 C A 4: 100,441,874 R815S probably damaging Het
Rrp1b C A 17: 32,056,560 D360E probably benign Het
Ryr3 T C 2: 112,666,335 Q3682R possibly damaging Het
Sdr42e1 A T 8: 117,662,877 F342I possibly damaging Het
Setd5 A G 6: 113,151,153 R1337G probably benign Het
Siglecf T C 7: 43,351,716 V36A probably damaging Het
Slc4a5 G A 6: 83,262,560 G152D probably damaging Het
Sptbn4 T G 7: 27,364,162 M2280L probably benign Het
Syngr2 T C 11: 117,812,580 I74T probably damaging Het
Tm9sf1 T C 14: 55,641,409 I175M possibly damaging Het
Tmc3 A G 7: 83,609,308 E502G probably damaging Het
Tph1 T A 7: 46,662,039 D88V possibly damaging Het
Tpr A G 1: 150,419,940 K979E possibly damaging Het
Usp47 A G 7: 112,092,727 T799A probably benign Het
Utf1 A G 7: 139,944,007 E45G possibly damaging Het
Vmn1r208 A T 13: 22,772,602 C242S probably damaging Het
Wrnip1 T C 13: 32,820,240 I498T probably damaging Het
Ypel2 T A 11: 86,971,873 H18L probably benign Het
Zan T G 5: 137,421,848 D2849A unknown Het
Zfp647 A T 15: 76,911,660 F267I probably damaging Het
Zfp786 G T 6: 47,820,971 H344Q possibly damaging Het
Zswim3 G T 2: 164,820,694 A365S probably benign Het
Zswim5 T C 4: 116,973,041 W538R probably damaging Het
Other mutations in Kif6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01793:Kif6 APN 17 49624493 missense probably damaging 0.99
IGL02098:Kif6 APN 17 49870894 missense probably benign 0.36
IGL02259:Kif6 APN 17 49895891 splice site probably benign
IGL03003:Kif6 APN 17 49753871 nonsense probably null
PIT4280001:Kif6 UTSW 17 49755120 missense probably benign 0.32
R0044:Kif6 UTSW 17 49832256 splice site probably benign
R1180:Kif6 UTSW 17 49832256 splice site probably benign
R1432:Kif6 UTSW 17 49620700 missense probably damaging 1.00
R1522:Kif6 UTSW 17 49714113 missense probably damaging 0.99
R1760:Kif6 UTSW 17 49615283 missense probably benign 0.00
R1770:Kif6 UTSW 17 49903649 missense possibly damaging 0.92
R1809:Kif6 UTSW 17 49901784 missense probably benign 0.00
R1854:Kif6 UTSW 17 49901771 missense probably benign 0.25
R3766:Kif6 UTSW 17 49758643 splice site probably benign
R4620:Kif6 UTSW 17 49901296 missense probably benign
R4661:Kif6 UTSW 17 49753881 missense probably benign 0.21
R4972:Kif6 UTSW 17 49707619 missense probably damaging 1.00
R5735:Kif6 UTSW 17 49832182 missense probably damaging 1.00
R5950:Kif6 UTSW 17 49715088 missense probably damaging 0.99
R6364:Kif6 UTSW 17 49620623 missense probably benign 0.01
X0067:Kif6 UTSW 17 49832167 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GTGACTGCCCGAAAGACAAG -3'
(R):5'- TACTTTGCTGGGGTGACAC -3'

Sequencing Primer
(F):5'- CATGCCCAGTGTGTACTAGGAAC -3'
(R):5'- GACACTTTTCACTGTGAATGGGAAGC -3'
Posted On2014-10-02