Incidental Mutation 'R6466:Qki'
ID 516606
Institutional Source Beutler Lab
Gene Symbol Qki
Ensembl Gene ENSMUSG00000062078
Gene Name quaking, KH domain containing RNA binding
Synonyms l17Wis1, l(17)-1Wis, QkI, 1110003F05Rik, Qk
MMRRC Submission 044599-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6466 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 10425480-10538706 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10434394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 315 (E315G)
Ref Sequence ENSEMBL: ENSMUSP00000046740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042296] [ENSMUST00000097414]
AlphaFold Q9QYS9
PDB Structure Crystal structure of the Quaking Qua1 homodimerization domain [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000042296
AA Change: E315G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046740
Gene: ENSMUSG00000062078
AA Change: E315G

DomainStartEndE-ValueType
KH 80 174 4.74e-9 SMART
low complexity region 211 226 N/A INTRINSIC
low complexity region 230 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097414
SMART Domains Protein: ENSMUSP00000095025
Gene: ENSMUSG00000062078

DomainStartEndE-ValueType
Pfam:STAR_dimer 10 68 9.4e-31 PFAM
KH 80 174 4.74e-9 SMART
low complexity region 211 226 N/A INTRINSIC
low complexity region 230 250 N/A INTRINSIC
Pfam:Quaking_NLS 312 341 5.5e-24 PFAM
Meta Mutation Damage Score 0.5157 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.1%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation and may play a role in schizophrenia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Knock-out mice die in utero with defects in embryo turning, blood vessel, smooth muscle, cardiac and neural tube development. Homozygotes for a spontaneous allele are viable but show myelin, spermatogenic and behavioral defects, hind leg tremors and seizures. Most ENU-induced mutants die in utero. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190005I06Rik A T 8: 121,335,735 (GRCm39) D69E probably damaging Het
AAdacl4fm3 T A 4: 144,430,437 (GRCm39) D184V probably damaging Het
Adgrv1 G T 13: 81,723,220 (GRCm39) probably null Het
Ahr A T 12: 35,554,031 (GRCm39) V696E probably benign Het
Akap13 A G 7: 75,376,792 (GRCm39) T2007A probably benign Het
Arid1b T C 17: 5,377,953 (GRCm39) F753S probably damaging Het
Bpifb3 G T 2: 153,764,108 (GRCm39) K105N probably damaging Het
C2cd2 A G 16: 97,680,822 (GRCm39) C331R probably benign Het
Chrm1 T A 19: 8,655,542 (GRCm39) Y82* probably null Het
Clcn3 A C 8: 61,382,595 (GRCm39) V331G probably damaging Het
Dchs1 A T 7: 105,413,748 (GRCm39) D1022E probably benign Het
Dnah2 T A 11: 69,430,241 (GRCm39) T106S probably benign Het
Fam171a2 T A 11: 102,330,711 (GRCm39) D256V probably damaging Het
Firrm G T 1: 163,781,734 (GRCm39) R898S probably benign Het
Fmn2 T A 1: 174,437,149 (GRCm39) probably benign Het
Fut11 C T 14: 20,745,377 (GRCm39) R103W probably damaging Het
Gas2l2 A C 11: 83,320,179 (GRCm39) S26A probably damaging Het
Gramd1a A T 7: 30,843,221 (GRCm39) I29N probably benign Het
Grem2 A G 1: 174,664,450 (GRCm39) V133A probably damaging Het
Hydin T A 8: 111,233,600 (GRCm39) S1813T possibly damaging Het
Igkv3-2 T C 6: 70,676,023 (GRCm39) F111L probably benign Het
Ints8 T C 4: 11,252,878 (GRCm39) Q68R probably damaging Het
Irx5 A G 8: 93,086,354 (GRCm39) I146V probably damaging Het
Kcnh3 T C 15: 99,136,124 (GRCm39) L707P probably damaging Het
Kcnk4 T A 19: 6,905,665 (GRCm39) I101F probably damaging Het
Klhl9 A G 4: 88,639,399 (GRCm39) Y281H probably benign Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Lmbr1 C T 5: 29,583,166 (GRCm39) A9T probably benign Het
Map10 G T 8: 126,399,123 (GRCm39) E839* probably null Het
Nectin4 C A 1: 171,214,321 (GRCm39) A492D probably damaging Het
Nfat5 T A 8: 108,082,140 (GRCm39) probably null Het
Or5p5 A G 7: 107,413,901 (GRCm39) T37A probably benign Het
Plec A G 15: 76,062,084 (GRCm39) Y2608H probably benign Het
Pold3 A G 7: 99,749,839 (GRCm39) S42P probably benign Het
Ppp2r1a G T 17: 21,180,893 (GRCm39) G432* probably null Het
Rfx2 C T 17: 57,091,397 (GRCm39) V354I probably benign Het
Rp1 T C 1: 4,418,109 (GRCm39) Y1001C probably benign Het
Sez6l A G 5: 112,609,007 (GRCm39) probably null Het
Slc39a14 A G 14: 70,547,335 (GRCm39) I337T probably damaging Het
Slc3a2 G T 19: 8,686,683 (GRCm39) L76M probably damaging Het
Slco1a5 T C 6: 142,183,260 (GRCm39) T555A probably benign Het
Sprr2e A T 3: 92,260,341 (GRCm39) K57N unknown Het
Syne2 A G 12: 75,990,675 (GRCm39) T1886A probably damaging Het
Tenm3 A T 8: 48,689,098 (GRCm39) I2147N probably damaging Het
Thbs1 G T 2: 117,950,328 (GRCm39) G654W probably damaging Het
Tigd5 A G 15: 75,782,352 (GRCm39) Y238C possibly damaging Het
Tmem221 A G 8: 72,010,493 (GRCm39) F126S probably damaging Het
Trp63 C A 16: 25,582,108 (GRCm39) P52Q probably damaging Het
Ugp2 A T 11: 21,278,883 (GRCm39) S434R probably benign Het
Vmn2r69 A C 7: 85,056,378 (GRCm39) F587V probably benign Het
Vps13d T A 4: 144,784,065 (GRCm39) N3872I possibly damaging Het
Wdfy2 A G 14: 63,186,115 (GRCm39) Y250C probably damaging Het
Zbtb16 T C 9: 48,576,619 (GRCm39) D487G possibly damaging Het
Other mutations in Qki
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0165:Qki UTSW 17 10,457,892 (GRCm39) missense probably damaging 1.00
R0268:Qki UTSW 17 10,428,575 (GRCm39) splice site probably benign
R3963:Qki UTSW 17 10,435,394 (GRCm39) splice site probably benign
R4732:Qki UTSW 17 10,435,217 (GRCm39) missense probably damaging 0.98
R4733:Qki UTSW 17 10,435,217 (GRCm39) missense probably damaging 0.98
R5153:Qki UTSW 17 10,457,820 (GRCm39) critical splice donor site probably null
R5161:Qki UTSW 17 10,434,419 (GRCm39) splice site probably null
R5368:Qki UTSW 17 10,457,964 (GRCm39) missense probably damaging 0.98
R5833:Qki UTSW 17 10,435,316 (GRCm39) missense probably damaging 1.00
R6880:Qki UTSW 17 10,434,376 (GRCm39) missense probably benign 0.00
R8068:Qki UTSW 17 10,537,732 (GRCm39) missense possibly damaging 0.57
R8474:Qki UTSW 17 10,537,747 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- TAGGAGTCAACAGCAGGCAC -3'
(R):5'- AGAGCTTCACTACCCAAAATTAGG -3'

Sequencing Primer
(F):5'- GTCAACAGCAGGCACACAGC -3'
(R):5'- AGTTTCAGTTTTAAGGGTTTTCAGC -3'
Posted On 2018-05-21