Incidental Mutation 'IGL02818:Kif9'
ID360878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif9
Ensembl Gene ENSMUSG00000032489
Gene Namekinesin family member 9
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.211) question?
Stock #IGL02818
Quality Score
Status
Chromosome9
Chromosomal Location110476958-110525179 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 110485149 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 76 (Y76N)
Ref Sequence ENSEMBL: ENSMUSP00000142888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061155] [ENSMUST00000084952] [ENSMUST00000197248] [ENSMUST00000198043] [ENSMUST00000198858]
Predicted Effect probably damaging
Transcript: ENSMUST00000061155
AA Change: Y70N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
AA Change: Y70N

DomainStartEndE-ValueType
KISc 4 348 1.25e-120 SMART
low complexity region 359 371 N/A INTRINSIC
Blast:KISc 372 608 7e-19 BLAST
low complexity region 651 668 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000084952
AA Change: Y70N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
AA Change: Y70N

DomainStartEndE-ValueType
KISc 4 348 1.25e-120 SMART
low complexity region 359 371 N/A INTRINSIC
Blast:KISc 372 608 7e-19 BLAST
low complexity region 651 668 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000197248
AA Change: Y70N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
AA Change: Y70N

DomainStartEndE-ValueType
KISc 4 348 1.25e-120 SMART
low complexity region 359 371 N/A INTRINSIC
Blast:KISc 372 608 6e-19 BLAST
low complexity region 651 668 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000198043
AA Change: Y70N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142689
Gene: ENSMUSG00000032489
AA Change: Y70N

DomainStartEndE-ValueType
KISc 4 348 1.25e-120 SMART
low complexity region 359 371 N/A INTRINSIC
Blast:KISc 372 476 5e-14 BLAST
low complexity region 489 501 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000198858
AA Change: Y76N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142888
Gene: ENSMUSG00000032489
AA Change: Y76N

DomainStartEndE-ValueType
KISc 9 144 6.7e-7 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,300,352 F653S probably benign Het
Acsm2 A G 7: 119,573,581 probably null Het
Aldh2 C T 5: 121,575,125 G256D probably benign Het
Ankfn1 G A 11: 89,538,466 H31Y probably benign Het
BC016579 A T 16: 45,629,502 S184R probably damaging Het
Cd101 A G 3: 101,011,929 L619P probably damaging Het
Clec14a A T 12: 58,268,102 C245S probably damaging Het
Csmd2 T C 4: 128,209,728 C247R probably damaging Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dctn1 T C 6: 83,192,514 S637P possibly damaging Het
Dhx40 A T 11: 86,799,505 I230K probably benign Het
Dnah7b T C 1: 46,290,808 Y3271H probably damaging Het
Efcab5 A T 11: 77,105,348 I1129N probably damaging Het
Gaa G T 11: 119,276,848 A445S probably damaging Het
Gldc A G 19: 30,136,509 S498P probably damaging Het
Gm973 T C 1: 59,541,475 probably null Het
Hpdl T C 4: 116,820,242 I341V probably damaging Het
Il23r A G 6: 67,486,094 probably null Het
Lct T G 1: 128,300,168 E1196A probably damaging Het
Lrrc37a T C 11: 103,501,306 I1098V possibly damaging Het
Mroh1 A G 15: 76,432,401 probably null Het
Nmrk1 T C 19: 18,641,259 L102P probably damaging Het
Nudcd3 A T 11: 6,150,635 probably benign Het
Ogdh A G 11: 6,348,270 T603A probably benign Het
Olfr1085 T A 2: 86,657,784 I225F probably damaging Het
Olfr527 A T 7: 140,336,606 Y248F possibly damaging Het
Pcsk4 T C 10: 80,322,792 Y542C probably damaging Het
Pkd2l2 T A 18: 34,412,809 W88R probably damaging Het
Ppp1r1b C T 11: 98,351,270 T21I possibly damaging Het
Srebf2 C A 15: 82,185,374 H706N probably damaging Het
Stradb T C 1: 58,979,962 V14A probably damaging Het
Svep1 T C 4: 58,069,804 T2661A possibly damaging Het
Tnn A T 1: 160,116,278 S988R possibly damaging Het
Trpm6 C A 19: 18,866,257 Q1662K probably benign Het
Utp3 T A 5: 88,555,408 Y265* probably null Het
Vwf A G 6: 125,663,548 T2316A probably benign Het
Zfp90 T C 8: 106,424,209 F185L probably benign Het
Zwilch G A 9: 64,150,227 T395I probably damaging Het
Other mutations in Kif9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01630:Kif9 APN 9 110485070 missense probably benign 0.03
IGL02273:Kif9 APN 9 110510470 missense probably damaging 0.99
R0034:Kif9 UTSW 9 110519611 missense probably benign 0.23
R0034:Kif9 UTSW 9 110519611 missense probably benign 0.23
R0047:Kif9 UTSW 9 110485038 missense probably benign 0.05
R0047:Kif9 UTSW 9 110485038 missense probably benign 0.05
R0137:Kif9 UTSW 9 110485038 missense probably damaging 1.00
R0594:Kif9 UTSW 9 110511340 missense probably benign 0.22
R1503:Kif9 UTSW 9 110510438 missense possibly damaging 0.89
R1657:Kif9 UTSW 9 110489966 missense possibly damaging 0.82
R1826:Kif9 UTSW 9 110517633 missense probably benign 0.34
R1856:Kif9 UTSW 9 110517719 missense probably null 1.00
R2076:Kif9 UTSW 9 110485032 splice site probably null
R3407:Kif9 UTSW 9 110519140 missense probably damaging 1.00
R4247:Kif9 UTSW 9 110495959 critical splice donor site probably null
R4487:Kif9 UTSW 9 110494484 missense probably null 1.00
R4515:Kif9 UTSW 9 110489867 missense probably benign 0.38
R4880:Kif9 UTSW 9 110501635 missense probably damaging 0.98
R5024:Kif9 UTSW 9 110483093 missense possibly damaging 0.81
R5093:Kif9 UTSW 9 110489897 missense probably damaging 1.00
R5181:Kif9 UTSW 9 110521268 missense probably damaging 1.00
R5362:Kif9 UTSW 9 110489944 missense probably damaging 0.99
R5379:Kif9 UTSW 9 110521303 missense probably benign 0.00
R5628:Kif9 UTSW 9 110514553 nonsense probably null
R5653:Kif9 UTSW 9 110524931 missense probably damaging 1.00
R5698:Kif9 UTSW 9 110510464 missense probably benign
R5758:Kif9 UTSW 9 110489879 missense probably damaging 1.00
R5986:Kif9 UTSW 9 110490026 missense probably benign 0.05
R6103:Kif9 UTSW 9 110489849 missense possibly damaging 0.82
R6247:Kif9 UTSW 9 110488544 missense possibly damaging 0.78
R6255:Kif9 UTSW 9 110517834 intron probably null
R6991:Kif9 UTSW 9 110494622 missense probably damaging 1.00
R7113:Kif9 UTSW 9 110506664 missense probably damaging 1.00
Posted On2015-12-18