Incidental Mutation 'R1547:Kif19a'
ID 172282
Institutional Source Beutler Lab
Gene Symbol Kif19a
Ensembl Gene ENSMUSG00000010021
Gene Name kinesin family member 19A
Synonyms N-8 kinesin
MMRRC Submission 039586-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R1547 (G1)
Quality Score 121
Status Not validated
Chromosome 11
Chromosomal Location 114656227-114681565 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114677398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 594 (E594G)
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: E594G

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021
AA Change: E594G

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: ENSMUST00000138804
AA Change: E552G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021
AA Change: E552G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156192
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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.3%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A C 12: 21,403,958 (GRCm39) V96G probably damaging Het
Adam5 G T 8: 25,300,729 (GRCm39) Q267K probably benign Het
Adamts6 A G 13: 104,581,383 (GRCm39) T833A probably benign Het
Ago4 C T 4: 126,405,206 (GRCm39) E456K probably benign Het
Anapc1 T C 2: 128,459,476 (GRCm39) Q1861R probably benign Het
Apob A T 12: 8,053,368 (GRCm39) D1270V probably benign Het
Arb2a T C 13: 77,973,509 (GRCm39) probably null Het
Arhgef11 T A 3: 87,602,709 (GRCm39) I196N possibly damaging Het
Armh4 A T 14: 50,010,953 (GRCm39) D251E probably benign Het
Capzb G A 4: 138,989,409 (GRCm39) probably null Het
Ccdc183 T A 2: 25,499,362 (GRCm39) T466S probably benign Het
Cd101 T C 3: 100,926,267 (GRCm39) T151A possibly damaging Het
Cdc42bpa A T 1: 179,902,209 (GRCm39) I489F probably damaging Het
Cetn4 T C 3: 37,363,600 (GRCm39) K52R possibly damaging Het
Dock6 C T 9: 21,725,884 (GRCm39) E1440K probably damaging Het
Edem2 A G 2: 155,564,436 (GRCm39) F94L probably damaging Het
Elp1 C A 4: 56,792,090 (GRCm39) R226L probably damaging Het
Elp1 C T 4: 56,798,810 (GRCm39) V51M probably damaging Het
Entrep1 T C 19: 23,957,065 (GRCm39) D315G probably damaging Het
Etl4 T C 2: 20,790,039 (GRCm39) S881P probably damaging Het
Fat2 G A 11: 55,143,081 (GRCm39) P4256L probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Kifap3 A G 1: 163,621,655 (GRCm39) D101G probably benign Het
Klhl6 T C 16: 19,784,832 (GRCm39) D102G probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lamb2 A G 9: 108,359,824 (GRCm39) H388R probably benign Het
Lmna T C 3: 88,389,658 (GRCm39) S656G probably benign Het
Map3k12 T A 15: 102,412,287 (GRCm39) I285F probably damaging Het
Map3k7 A G 4: 31,991,796 (GRCm39) I345V probably benign Het
Mcph1 A G 8: 18,672,702 (GRCm39) R111G possibly damaging Het
Mfsd6l T A 11: 68,447,434 (GRCm39) V95D probably damaging Het
Mogs T A 6: 83,093,006 (GRCm39) M118K possibly damaging Het
Npy5r T C 8: 67,133,686 (GRCm39) E369G possibly damaging Het
Nudt16l2 A T 9: 105,021,889 (GRCm39) F52L probably damaging Het
Or10j3 T A 1: 173,031,239 (GRCm39) Y105* probably null Het
Or2t49 A G 11: 58,392,651 (GRCm39) S244P probably damaging Het
Or8b12b A C 9: 37,683,960 (GRCm39) T2P probably benign Het
Pde7b C A 10: 20,310,340 (GRCm39) L207F probably damaging Het
Pigo A G 4: 43,020,689 (GRCm39) V751A probably benign Het
Polr2a T C 11: 69,625,381 (GRCm39) Y1923C probably benign Het
Prokr2 T C 2: 132,215,522 (GRCm39) Y152C probably damaging Het
Rab40c A G 17: 26,102,724 (GRCm39) S223P probably damaging Het
Recql4 A C 15: 76,590,511 (GRCm39) C658G probably damaging Het
Sgca T C 11: 94,860,259 (GRCm39) T46A probably damaging Het
Slc39a4 G T 15: 76,498,347 (GRCm39) C363* probably null Het
Snap25 A T 2: 136,619,389 (GRCm39) I181F possibly damaging Het
Snx32 T A 19: 5,547,339 (GRCm39) Q256L possibly damaging Het
Soat1 A G 1: 156,267,331 (GRCm39) V284A probably damaging Het
Sox6 G A 7: 115,300,957 (GRCm39) T170M possibly damaging Het
Spag16 G T 1: 69,912,402 (GRCm39) V246F possibly damaging Het
St6galnac6 T C 2: 32,504,977 (GRCm39) V141A possibly damaging Het
Sult2a7 T A 7: 14,211,047 (GRCm39) probably null Het
Syngr3 A T 17: 24,906,698 (GRCm39) V39E probably damaging Het
Tango6 A G 8: 107,508,418 (GRCm39) T917A probably damaging Het
Tas1r1 A G 4: 152,112,876 (GRCm39) S726P probably damaging Het
Zeb1 C T 18: 5,767,450 (GRCm39) R654C possibly 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
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
Predicted Primers PCR Primer
(F):5'- GTCACAGGGCATGGTTGAGTCAAG -3'
(R):5'- AGACTTCGTAGAGTTCCTCCAGGTG -3'

Sequencing Primer
(F):5'- GGGCTAACCTATACTTGGAGTACC -3'
(R):5'- CGGGGAACCTCCAGATTGTAG -3'
Posted On 2014-04-13