Incidental Mutation 'IGL00743:Kif19a'
ID 11616
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif19a
Ensembl Gene ENSMUSG00000010021
Gene Name kinesin family member 19A
Synonyms N-8 kinesin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # IGL00743
Quality Score
Status
Chromosome 11
Chromosomal Location 114656227-114681565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114675599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 357 (V357A)
Ref Sequence ENSEMBL: ENSMUSP00000081398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084368] [ENSMUST00000138804]
AlphaFold Q99PT9
Predicted Effect probably damaging
Transcript: ENSMUST00000084368
AA Change: V357A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021
AA Change: V357A

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
SMART Domains Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021
AA Change: V315A

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 T C 2: 150,461,606 (GRCm39) E659G probably benign Het
Adgrg6 A C 10: 14,411,703 (GRCm39) probably benign Het
Als2cl A G 9: 110,718,227 (GRCm39) K323E possibly damaging Het
Atm A C 9: 53,424,416 (GRCm39) S628R probably benign Het
Baz2a T C 10: 127,950,395 (GRCm39) V443A probably benign Het
Bclaf3 T A X: 158,341,357 (GRCm39) F545Y probably benign Het
Calcr T C 6: 3,717,196 (GRCm39) Y88C probably damaging Het
Ccdc178 C T 18: 22,278,501 (GRCm39) probably benign Het
Cdh20 A G 1: 104,875,153 (GRCm39) T312A probably benign Het
Chrnd G A 1: 87,120,649 (GRCm39) W91* probably null Het
Cntln T C 4: 84,897,652 (GRCm39) F413S probably benign Het
Ctsq A T 13: 61,183,998 (GRCm39) I308N probably damaging Het
Cyp2d34 A T 15: 82,501,736 (GRCm39) V258D probably damaging Het
Dnajc13 G A 9: 104,039,979 (GRCm39) P2044S probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Hps6 A T 19: 45,992,099 (GRCm39) D12V probably damaging Het
Hpse T C 5: 100,846,865 (GRCm39) D188G probably benign Het
Id2 C A 12: 25,145,355 (GRCm39) E123* probably null Het
Ints10 C T 8: 69,271,985 (GRCm39) P562L probably damaging Het
Kctd10 G A 5: 114,505,410 (GRCm39) R195C probably damaging Het
Kel A C 6: 41,665,509 (GRCm39) L537R probably damaging Het
Lrrtm3 A T 10: 63,924,988 (GRCm39) S60T probably damaging Het
Myof C A 19: 37,949,382 (GRCm39) R608L probably benign Het
Naa35 A T 13: 59,778,485 (GRCm39) I669F probably benign Het
Or8g2b A T 9: 39,751,002 (GRCm39) I91F probably benign Het
Or8g53 A G 9: 39,683,407 (GRCm39) S230P possibly damaging Het
Pclo G T 5: 14,728,035 (GRCm39) probably benign Het
Pik3c3 C T 18: 30,407,417 (GRCm39) S55F probably damaging Het
Prdm6 T G 18: 53,673,300 (GRCm39) D153E possibly damaging Het
Rnf183 T C 4: 62,346,610 (GRCm39) T63A probably benign Het
Samd4b A C 7: 28,101,302 (GRCm39) I108S probably damaging Het
Slc9a7 T C X: 19,972,260 (GRCm39) D708G possibly damaging Het
Stim2 A G 5: 54,210,835 (GRCm39) D90G probably benign Het
Tmem52b A G 6: 129,493,678 (GRCm39) D97G probably damaging Het
Tnfsf15 T C 4: 63,652,518 (GRCm39) R98G probably benign Het
Uxs1 C T 1: 43,796,173 (GRCm39) V310I probably benign Het
Vcan A C 13: 89,873,425 (GRCm39) M143R probably damaging Het
Vmn2r93 T C 17: 18,546,504 (GRCm39) F792S probably damaging Het
Zfp455 T C 13: 67,355,962 (GRCm39) I345T probably benign Het
Zfp938 A T 10: 82,062,317 (GRCm39) M101K probably benign Het
Zkscan2 A G 7: 123,079,195 (GRCm39) S921P probably damaging Het
Other mutations in Kif19a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Kif19a APN 11 114,670,411 (GRCm39) missense probably damaging 1.00
IGL00763:Kif19a APN 11 114,657,994 (GRCm39) missense probably benign 0.00
IGL01327:Kif19a APN 11 114,672,625 (GRCm39) splice site probably benign
IGL02422:Kif19a APN 11 114,680,187 (GRCm39) missense probably damaging 1.00
IGL02481:Kif19a APN 11 114,679,979 (GRCm39) missense probably benign 0.28
IGL02496:Kif19a APN 11 114,670,470 (GRCm39) missense probably damaging 0.99
IGL02735:Kif19a APN 11 114,676,393 (GRCm39) missense probably damaging 1.00
IGL02830:Kif19a APN 11 114,672,034 (GRCm39) missense probably damaging 1.00
IGL02902:Kif19a APN 11 114,676,396 (GRCm39) missense possibly damaging 0.46
IGL03372:Kif19a APN 11 114,670,044 (GRCm39) missense probably damaging 0.99
PIT4520001:Kif19a UTSW 11 114,672,034 (GRCm39) missense probably damaging 1.00
R0212:Kif19a UTSW 11 114,675,736 (GRCm39) missense possibly damaging 0.48
R0383:Kif19a UTSW 11 114,656,340 (GRCm39) start codon destroyed possibly damaging 0.63
R0850:Kif19a UTSW 11 114,671,613 (GRCm39) missense probably damaging 0.99
R1343:Kif19a UTSW 11 114,676,653 (GRCm39) missense probably benign 0.08
R1422:Kif19a UTSW 11 114,676,635 (GRCm39) missense probably benign 0.01
R1547:Kif19a UTSW 11 114,677,398 (GRCm39) missense probably benign 0.41
R1591:Kif19a UTSW 11 114,680,057 (GRCm39) missense probably benign
R2148:Kif19a UTSW 11 114,671,594 (GRCm39) missense probably damaging 1.00
R2291:Kif19a UTSW 11 114,681,019 (GRCm39) missense probably damaging 1.00
R3814:Kif19a UTSW 11 114,672,745 (GRCm39) missense probably damaging 1.00
R3944:Kif19a UTSW 11 114,677,561 (GRCm39) missense probably benign 0.34
R4631:Kif19a UTSW 11 114,675,673 (GRCm39) missense possibly damaging 0.95
R4866:Kif19a UTSW 11 114,658,053 (GRCm39) missense probably benign 0.00
R4867:Kif19a UTSW 11 114,658,053 (GRCm39) missense probably benign 0.00
R5022:Kif19a UTSW 11 114,658,053 (GRCm39) missense probably benign 0.00
R5071:Kif19a UTSW 11 114,658,053 (GRCm39) missense probably benign 0.00
R5072:Kif19a UTSW 11 114,658,053 (GRCm39) missense probably benign 0.00
R5073:Kif19a UTSW 11 114,658,053 (GRCm39) missense probably benign 0.00
R5074:Kif19a UTSW 11 114,658,053 (GRCm39) missense probably benign 0.00
R5091:Kif19a UTSW 11 114,673,923 (GRCm39) missense probably damaging 1.00
R5640:Kif19a UTSW 11 114,670,041 (GRCm39) missense probably benign 0.25
R5646:Kif19a UTSW 11 114,670,480 (GRCm39) missense probably damaging 1.00
R5786:Kif19a UTSW 11 114,670,049 (GRCm39) nonsense probably null
R5890:Kif19a UTSW 11 114,680,264 (GRCm39) missense possibly damaging 0.92
R6344:Kif19a UTSW 11 114,672,777 (GRCm39) critical splice donor site probably null
R6522:Kif19a UTSW 11 114,676,605 (GRCm39) missense probably damaging 1.00
R6570:Kif19a UTSW 11 114,675,731 (GRCm39) missense possibly damaging 0.63
R6879:Kif19a UTSW 11 114,672,159 (GRCm39) missense probably benign 0.03
R7028:Kif19a UTSW 11 114,672,034 (GRCm39) missense probably damaging 1.00
R7274:Kif19a UTSW 11 114,656,281 (GRCm39) start gained probably benign
R7492:Kif19a UTSW 11 114,681,065 (GRCm39) missense probably benign 0.36
R7782:Kif19a UTSW 11 114,672,748 (GRCm39) missense probably damaging 1.00
R8473:Kif19a UTSW 11 114,678,377 (GRCm39) missense probably damaging 1.00
R8712:Kif19a UTSW 11 114,675,599 (GRCm39) missense probably damaging 1.00
R9332:Kif19a UTSW 11 114,680,033 (GRCm39) missense possibly damaging 0.49
R9596:Kif19a UTSW 11 114,676,752 (GRCm39) missense probably benign 0.31
Z1176:Kif19a UTSW 11 114,680,655 (GRCm39) missense probably benign 0.12
Z1176:Kif19a UTSW 11 114,677,416 (GRCm39) missense probably damaging 1.00
Z1177:Kif19a UTSW 11 114,675,730 (GRCm39) missense probably benign 0.33
Z1177:Kif19a UTSW 11 114,672,141 (GRCm39) missense probably benign 0.33
Posted On 2012-12-06