Incidental Mutation 'R1591:Kif19a'
ID 175515
Institutional Source Beutler Lab
Gene Symbol Kif19a
Ensembl Gene ENSMUSG00000010021
Gene Name kinesin family member 19A
Synonyms N-8 kinesin
MMRRC Submission 039628-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R1591 (G1)
Quality Score 126
Status Validated
Chromosome 11
Chromosomal Location 114656227-114681565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 114680057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 798 (H798P)
Ref Sequence ENSEMBL: ENSMUSP00000081398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000206] [ENSMUST00000084368] [ENSMUST00000138804]
AlphaFold Q99PT9
Predicted Effect probably benign
Transcript: ENSMUST00000000206
SMART Domains Protein: ENSMUSP00000000206
Gene: ENSMUSG00000000202

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 49 59 N/A INTRINSIC
BTB 63 162 2.01e-11 SMART
BACK 169 269 8.58e-19 SMART
Blast:BACK 425 460 1e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000084368
AA Change: H798P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021
AA Change: H798P

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 unknown
Transcript: ENSMUST00000138340
AA Change: H69P
SMART Domains Protein: ENSMUSP00000122743
Gene: ENSMUSG00000010021
AA Change: H69P

DomainStartEndE-ValueType
low complexity region 22 38 N/A INTRINSIC
low complexity region 79 87 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141481
Predicted Effect probably benign
Transcript: ENSMUST00000138804
SMART Domains Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021

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
Meta Mutation Damage Score 0.0713 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency 100% (80/80)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 G T 5: 100,957,505 (GRCm39) Q201K probably benign Het
Acacb A T 5: 114,341,484 (GRCm39) I829F possibly damaging Het
Acvr1b G T 15: 101,091,905 (GRCm39) V62L probably benign Het
Adam6b A T 12: 113,453,452 (GRCm39) I90F probably benign Het
Adgrf1 T C 17: 43,621,872 (GRCm39) L703P probably damaging Het
Arf3 T C 15: 98,640,669 (GRCm39) probably benign Het
Asns T C 6: 7,678,007 (GRCm39) D357G probably damaging Het
Atr T C 9: 95,827,438 (GRCm39) M2461T probably damaging Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Bod1l T C 5: 41,976,563 (GRCm39) I1584V probably benign Het
Bub3 T C 7: 131,163,337 (GRCm39) probably null Het
Camkk2 A G 5: 122,895,621 (GRCm39) probably null Het
Cand1 G T 10: 119,047,774 (GRCm39) T572K possibly damaging Het
Caprin2 A T 6: 148,774,606 (GRCm39) S235R possibly damaging Het
Cdh24 T C 14: 54,873,799 (GRCm39) T452A probably benign Het
Cdh4 T C 2: 179,528,657 (GRCm39) probably null Het
Cfap61 A G 2: 145,987,378 (GRCm39) R1060G probably benign Het
Chd9 A G 8: 91,710,166 (GRCm39) D314G probably damaging Het
Cplx3 C T 9: 57,523,085 (GRCm39) V125I probably benign Het
Csmd1 T A 8: 15,950,710 (GRCm39) I3500F probably damaging Het
Dnah1 G T 14: 30,994,289 (GRCm39) Q2858K probably benign Het
Dnah6 C T 6: 73,053,583 (GRCm39) E2884K probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Exosc10 T A 4: 148,652,840 (GRCm39) I485N probably benign Het
Fap T C 2: 62,384,201 (GRCm39) K2E probably damaging Het
Fgfr1 G A 8: 26,062,736 (GRCm39) G671D probably damaging Het
Fzr1 C T 10: 81,206,201 (GRCm39) R162Q possibly damaging Het
Grap2 A T 15: 80,532,649 (GRCm39) Y272F probably damaging Het
Il11ra1 T A 4: 41,766,200 (GRCm39) W246R probably damaging Het
Kcna3 A T 3: 106,944,345 (GRCm39) I203F probably damaging Het
Kcng1 T C 2: 168,110,630 (GRCm39) E178G possibly damaging Het
Kif21b T C 1: 136,077,055 (GRCm39) L359P probably damaging Het
Krt6a A T 15: 101,600,792 (GRCm39) probably null Het
Lrp1 C T 10: 127,441,475 (GRCm39) S216N probably benign Het
Lrp3 A G 7: 34,901,790 (GRCm39) V676A probably benign Het
Lrrc63 T A 14: 75,363,332 (GRCm39) K266N possibly damaging Het
Mccc1 C T 3: 36,044,006 (GRCm39) V246M probably damaging Het
Mdn1 T C 4: 32,700,092 (GRCm39) V1395A possibly damaging Het
Mmrn1 A T 6: 60,921,755 (GRCm39) R71* probably null Het
Mrps2 C T 2: 28,359,500 (GRCm39) A119V probably benign Het
Ogdh T C 11: 6,299,384 (GRCm39) F750S probably damaging Het
Or1ak2 C A 2: 36,827,990 (GRCm39) N286K probably damaging Het
Or51aa2 T G 7: 103,188,274 (GRCm39) T56P probably benign Het
Or5p60 T A 7: 107,723,571 (GRCm39) I300F possibly damaging Het
Or8b3 A G 9: 38,314,232 (GRCm39) T18A probably damaging Het
Or8b42 A T 9: 38,341,707 (GRCm39) N43I probably damaging Het
Osbpl11 A C 16: 33,030,353 (GRCm39) I194L probably benign Het
Pacsin2 T C 15: 83,269,252 (GRCm39) E14G probably damaging Het
Pate7 T C 9: 35,687,952 (GRCm39) D96G probably damaging Het
Pcdh7 A G 5: 57,877,764 (GRCm39) T440A probably damaging Het
Pcdhb17 T C 18: 37,618,878 (GRCm39) S223P probably damaging Het
Pik3c2g G A 6: 139,693,904 (GRCm39) R109K probably benign Het
Ppp2ca T C 11: 51,989,916 (GRCm39) I14T possibly damaging Het
Rdh12 A T 12: 79,258,278 (GRCm39) T102S probably damaging Het
Rsf1 T A 7: 97,288,520 (GRCm39) C132* probably null Het
Rufy1 G A 11: 50,285,755 (GRCm39) L621F probably damaging Het
Ruvbl2 C T 7: 45,074,135 (GRCm39) R253H possibly damaging Het
Sdf2 A G 11: 78,145,819 (GRCm39) E172G probably damaging Het
Skint5 C T 4: 113,856,651 (GRCm39) probably null Het
Slc25a27 A G 17: 43,964,315 (GRCm39) I185T probably benign Het
Slc41a3 A C 6: 90,610,677 (GRCm39) K180Q probably benign Het
Slc7a14 A C 3: 31,291,598 (GRCm39) F227V probably damaging Het
Smg1 T C 7: 117,756,142 (GRCm39) probably benign Het
St6galnac1 A T 11: 116,656,689 (GRCm39) D483E probably damaging Het
Tes A G 6: 17,097,441 (GRCm39) K183R probably damaging Het
Tgfbr1 G T 4: 47,403,471 (GRCm39) D290Y probably damaging Het
Tifab T A 13: 56,324,164 (GRCm39) Y93F probably benign Het
Tmem131l A G 3: 83,848,196 (GRCm39) probably null Het
Tnfrsf21 T A 17: 43,396,265 (GRCm39) S516R probably benign Het
Ttn T C 2: 76,606,389 (GRCm39) Y18140C probably damaging Het
Unc13b T A 4: 43,244,747 (GRCm39) S3692T probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Zfp113 T C 5: 138,149,459 (GRCm39) probably benign Het
Zfp26 T C 9: 20,348,921 (GRCm39) T548A probably benign Het
Zfp870 C T 17: 33,102,990 (GRCm39) G114D probably damaging Het
Other mutations in Kif19a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Kif19a APN 11 114,670,411 (GRCm39) missense probably damaging 1.00
IGL00743:Kif19a APN 11 114,675,599 (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
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
Predicted Primers PCR Primer
(F):5'- AAATTAAGGTCCCCAGGGTTCGC -3'
(R):5'- GCCTGTGCTGCTAGATAGATTGTCC -3'

Sequencing Primer
(F):5'- CCAAAGCTTCTCAGAGTCAGTG -3'
(R):5'- CTGCTAGATAGATTGTCCTCGCTG -3'
Posted On 2014-04-24