Incidental Mutation 'IGL02735:Kif19a'
ID305620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif19a
Ensembl Gene ENSMUSG00000010021
Gene Namekinesin family member 19A
SynonymsN-8 kinesin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.149) question?
Stock #IGL02735
Quality Score
Status
Chromosome11
Chromosomal Location114765388-114790739 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 114785567 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 449 (E449V)
Ref Sequence ENSEMBL: ENSMUSP00000081398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084368] [ENSMUST00000138804]
Predicted Effect probably damaging
Transcript: ENSMUST00000084368
AA Change: E449V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021
AA Change: E449V

DomainStartEndE-ValueType
KISc 9 354 4.53e-150 SMART
coiled coil region 361 388 N/A INTRINSIC
coiled coil region 431 449 N/A INTRINSIC
coiled coil region 506 551 N/A INTRINSIC
low complexity region 628 641 N/A INTRINSIC
low complexity region 750 766 N/A INTRINSIC
low complexity region 807 815 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137326
Predicted Effect probably benign
Transcript: ENSMUST00000138340
SMART Domains Protein: ENSMUSP00000122743
Gene: ENSMUSG00000010021

DomainStartEndE-ValueType
low complexity region 22 38 N/A INTRINSIC
low complexity region 79 87 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000138804
AA Change: E407V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021
AA Change: E407V

DomainStartEndE-ValueType
KISc 9 312 2.99e-118 SMART
coiled coil region 319 346 N/A INTRINSIC
coiled coil region 389 407 N/A INTRINSIC
coiled coil region 464 509 N/A INTRINSIC
low complexity region 586 599 N/A INTRINSIC
low complexity region 683 692 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display partial postnatal lethality, hydroencephaly, female infertility, oviduct obstruction, increased motile cilium length and impaired motile cilium movement. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Acss1 A T 2: 150,638,467 V228E probably damaging Het
Ampd1 T A 3: 103,085,377 M145K probably damaging Het
Ankhd1 G A 18: 36,648,546 S2217N probably benign Het
Asph T A 4: 9,598,759 D211V probably damaging Het
C87414 G A 5: 93,638,644 P89S possibly damaging Het
Cd55b A T 1: 130,388,676 W379R probably damaging Het
Derl3 A G 10: 75,895,116 T201A probably damaging Het
Efcab6 A G 15: 83,899,697 L1008P probably damaging Het
Eif4g3 A G 4: 138,126,211 I363V probably benign Het
Heatr5a A G 12: 51,915,021 F1058L probably damaging Het
Hmcn1 A T 1: 150,646,832 M3439K probably benign Het
Ift140 C A 17: 25,034,035 probably benign Het
Itgad A G 7: 128,193,716 Y832C probably damaging Het
Itgb2 T A 10: 77,549,999 D265E possibly damaging Het
Krt40 T C 11: 99,538,635 E291G probably damaging Het
Lama2 T C 10: 27,104,128 N1897S probably damaging Het
Lepr A G 4: 101,782,638 Y767C probably damaging Het
Lrrtm4 A G 6: 80,809,050 H546R probably benign Het
March6 A G 15: 31,486,120 S362P probably benign Het
Med12l A G 3: 59,093,646 Y734C probably damaging Het
Mrps18a C T 17: 46,122,799 R74C probably damaging Het
Mvk A G 5: 114,450,819 E174G probably benign Het
Naip2 A G 13: 100,160,214 S1105P probably damaging Het
Nrxn3 A G 12: 89,254,854 M468V probably benign Het
Obscn T C 11: 59,093,349 E1760G probably damaging Het
Pcsk5 C A 19: 17,675,468 G285W probably damaging Het
Pgpep1l A G 7: 68,236,973 I196T probably benign Het
Phf14 T C 6: 11,987,612 M630T probably benign Het
Plod2 T C 9: 92,595,389 probably benign Het
Poldip2 G A 11: 78,512,336 A9T probably benign Het
Pou2f1 A G 1: 165,875,827 S718P probably damaging Het
Ptpre A T 7: 135,667,567 Y246F probably damaging Het
Pudp T C 18: 50,568,332 H110R probably benign Het
Scaf4 C T 16: 90,245,515 G646E unknown Het
Sec16a T A 2: 26,428,137 probably benign Het
Serpina5 A G 12: 104,103,857 T338A probably benign Het
Shisa5 T G 9: 109,056,012 F118V probably damaging Het
Slc6a21 G A 7: 45,286,637 probably benign Het
Sprtn T A 8: 124,903,387 V473E probably benign Het
Styxl1 A G 5: 135,759,142 I165T probably damaging Het
Tal2 T A 4: 53,785,906 I29N probably damaging Het
Tas2r134 T C 2: 51,627,827 I106T probably damaging Het
Tmem259 G A 10: 79,979,139 T217I probably damaging Het
Trpc6 T C 9: 8,655,338 I723T probably damaging Het
Vmn1r211 A T 13: 22,852,248 V83D probably damaging Het
Vmn2r103 G T 17: 19,812,248 M761I probably benign Het
Ybey A T 10: 76,468,326 I14N probably damaging Het
Other mutations in Kif19a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Kif19a APN 11 114779585 missense probably damaging 1.00
IGL00743:Kif19a APN 11 114784773 missense probably damaging 1.00
IGL00763:Kif19a APN 11 114767168 missense probably benign 0.00
IGL01327:Kif19a APN 11 114781799 splice site probably benign
IGL02422:Kif19a APN 11 114789361 missense probably damaging 1.00
IGL02481:Kif19a APN 11 114789153 missense probably benign 0.28
IGL02496:Kif19a APN 11 114779644 missense probably damaging 0.99
IGL02830:Kif19a APN 11 114781208 missense probably damaging 1.00
IGL02902:Kif19a APN 11 114785570 missense possibly damaging 0.46
IGL03372:Kif19a APN 11 114779218 missense probably damaging 0.99
PIT4520001:Kif19a UTSW 11 114781208 missense probably damaging 1.00
R0212:Kif19a UTSW 11 114784910 missense possibly damaging 0.48
R0383:Kif19a UTSW 11 114765514 start codon destroyed possibly damaging 0.63
R0850:Kif19a UTSW 11 114780787 missense probably damaging 0.99
R1343:Kif19a UTSW 11 114785827 missense probably benign 0.08
R1422:Kif19a UTSW 11 114785809 missense probably benign 0.01
R1547:Kif19a UTSW 11 114786572 missense probably benign 0.41
R1591:Kif19a UTSW 11 114789231 missense probably benign
R2148:Kif19a UTSW 11 114780768 missense probably damaging 1.00
R2291:Kif19a UTSW 11 114790193 missense probably damaging 1.00
R3814:Kif19a UTSW 11 114781919 missense probably damaging 1.00
R3944:Kif19a UTSW 11 114786735 missense probably benign 0.34
R4631:Kif19a UTSW 11 114784847 missense possibly damaging 0.95
R4866:Kif19a UTSW 11 114767227 missense probably benign 0.00
R4867:Kif19a UTSW 11 114767227 missense probably benign 0.00
R5022:Kif19a UTSW 11 114767227 missense probably benign 0.00
R5071:Kif19a UTSW 11 114767227 missense probably benign 0.00
R5072:Kif19a UTSW 11 114767227 missense probably benign 0.00
R5073:Kif19a UTSW 11 114767227 missense probably benign 0.00
R5074:Kif19a UTSW 11 114767227 missense probably benign 0.00
R5091:Kif19a UTSW 11 114783097 missense probably damaging 1.00
R5640:Kif19a UTSW 11 114779215 missense probably benign 0.25
R5646:Kif19a UTSW 11 114779654 missense probably damaging 1.00
R5786:Kif19a UTSW 11 114779223 nonsense probably null
R5890:Kif19a UTSW 11 114789438 missense possibly damaging 0.92
R6344:Kif19a UTSW 11 114781951 critical splice donor site probably null
R6522:Kif19a UTSW 11 114785779 missense probably damaging 1.00
R6570:Kif19a UTSW 11 114784905 missense possibly damaging 0.63
R6879:Kif19a UTSW 11 114781333 missense probably benign 0.03
R7028:Kif19a UTSW 11 114781208 missense probably damaging 1.00
R7274:Kif19a UTSW 11 114765455 start gained probably benign
R7492:Kif19a UTSW 11 114790239 missense probably benign 0.36
Posted On2015-04-16