Incidental Mutation 'IGL02830:Kif19a'
ID361395
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: 0.125) question?
Stock #IGL02830
Quality Score
Status
Chromosome11
Chromosomal Location114765388-114790739 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 114781208 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 207 (T207M)
Ref Sequence ENSEMBL: ENSMUSP00000081398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084368] [ENSMUST00000138804]
Predicted Effect probably damaging
Transcript: ENSMUST00000084368
AA Change: T207M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021
AA Change: T207M

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: ENSMUST00000137326
Predicted Effect
SMART Domains Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021
AA Change: T165M

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T A 17: 48,037,426 E67D possibly damaging Het
9530053A07Rik C A 7: 28,162,923 H2471Q probably damaging Het
Acad11 T A 9: 104,075,919 F116I probably damaging Het
Acox2 G A 14: 8,255,298 T160I probably damaging Het
Anxa7 A T 14: 20,456,540 M444K possibly damaging Het
Atg2a A G 19: 6,247,681 D423G probably benign Het
Cela3a T C 4: 137,401,635 N282S probably benign Het
Cyp2c50 G A 19: 40,098,056 V296I probably benign Het
Fgd3 A G 13: 49,264,631 probably benign Het
Gimap8 G A 6: 48,656,305 A353T probably benign Het
Grin3a T A 4: 49,702,787 M900L possibly damaging Het
H1f0 T G 15: 79,029,311 probably benign Het
Heatr1 T C 13: 12,426,212 V1456A possibly damaging Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Kbtbd3 T A 9: 4,330,096 S157T possibly damaging Het
Klc1 T C 12: 111,776,907 Y223H probably damaging Het
Klhl33 C T 14: 50,891,757 V672M probably damaging Het
Lrrc49 G A 9: 60,685,110 L34F probably damaging Het
Nalcn C T 14: 123,293,469 V1386I probably damaging Het
Olfr142 A T 2: 90,252,781 I69N probably damaging Het
Olfr201 A G 16: 59,269,053 S205P possibly damaging Het
Olfr292 T G 7: 86,695,174 C239W probably damaging Het
Olfr65 C T 7: 103,906,444 P2S probably benign Het
Orc5 A T 5: 22,529,267 L173Q probably damaging Het
Otud4 T G 8: 79,673,301 D880E probably benign Het
Pde12 T C 14: 26,668,585 Y323C probably damaging Het
Pde8b G T 13: 95,052,901 D198E probably benign Het
Prom2 T A 2: 127,535,069 I542F possibly damaging Het
Ptprj G A 2: 90,453,144 T952I probably benign Het
Ribc2 T A 15: 85,132,257 probably benign Het
Sec31b C T 19: 44,531,703 R214K probably damaging Het
Senp5 G A 16: 31,983,485 probably benign Het
Sh3pxd2a G A 19: 47,283,078 R249W probably damaging Het
Sorcs3 G A 19: 48,723,002 probably null Het
Spata31d1c A G 13: 65,035,366 T241A probably benign Het
Tac1 G A 6: 7,555,650 V13I probably benign Het
Tnnc2 T A 2: 164,777,510 D138V probably null Het
Tspan32 T A 7: 143,017,592 M159K possibly damaging Het
Tsta3 C T 15: 75,925,588 V275I probably benign Het
Ttc28 A T 5: 111,286,239 T2380S probably benign Het
Ubc T A 5: 125,387,313 I317F probably damaging Het
Usp24 T C 4: 106,347,387 S268P possibly damaging Het
Vmn2r91 C A 17: 18,136,622 H850Q probably benign Het
Xrn1 T C 9: 96,018,181 probably null Het
Zfp329 A C 7: 12,810,116 C494G probably damaging Het
Zfp54 T C 17: 21,433,456 S71P 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
IGL02735:Kif19a APN 11 114785567 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 On2015-12-18