Incidental Mutation 'R5368:Qki'
ID 478326
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 043204-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5368 (G1)
Quality Score 166
Status Validated
Chromosome 17
Chromosomal Location 10425480-10538706 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 10457964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 135 (E135A)
Ref Sequence ENSEMBL: ENSMUSP00000095025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042296] [ENSMUST00000097414]
AlphaFold Q9QYS9
Predicted Effect probably damaging
Transcript: ENSMUST00000042296
AA Change: E135A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046740
Gene: ENSMUSG00000062078
AA Change: E135A

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 damaging
Transcript: ENSMUST00000097414
AA Change: E135A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095025
Gene: ENSMUSG00000062078
AA Change: E135A

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 0.2485 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (61/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 130,740,925 (GRCm39) H97L possibly damaging Het
Abca9 T A 11: 110,036,372 (GRCm39) N579I probably damaging Het
Acbd3 A T 1: 180,549,660 (GRCm39) probably benign Het
Ankrd50 A T 3: 38,509,199 (GRCm39) I1056N probably damaging Het
Ceacam18 T C 7: 43,291,458 (GRCm39) V300A probably benign Het
Cfap46 C A 7: 139,207,389 (GRCm39) R1843S possibly damaging Het
D430041D05Rik A G 2: 104,078,629 (GRCm39) V1229A probably damaging Het
Dbx2 G A 15: 95,538,522 (GRCm39) S206L probably benign Het
Dnah11 A T 12: 117,918,628 (GRCm39) D1530E probably damaging Het
Ecm2 A C 13: 49,674,419 (GRCm39) T280P probably benign Het
Emc2 G A 15: 43,375,207 (GRCm39) probably null Het
Epb42 C T 2: 120,849,943 (GRCm39) V689I probably benign Het
Fam114a1 T A 5: 65,163,452 (GRCm39) M209K possibly damaging Het
Fam117a C T 11: 95,266,459 (GRCm39) S193F probably damaging Het
Foxp2 A T 6: 15,377,913 (GRCm39) probably benign Het
Frmd6 T A 12: 70,910,874 (GRCm39) C19* probably null Het
Fyb1 A G 15: 6,610,159 (GRCm39) probably null Het
Gata6 C A 18: 11,063,059 (GRCm39) H442Q possibly damaging Het
Gldc A G 19: 30,135,921 (GRCm39) S160P probably benign Het
Gm3952 A G 8: 129,472,455 (GRCm39) S1626P possibly damaging Het
Gm9762 T A 3: 78,873,742 (GRCm39) noncoding transcript Het
Gtpbp2 T C 17: 46,477,230 (GRCm39) probably benign Het
Hgd A T 16: 37,410,113 (GRCm39) T50S probably benign Het
Itpr1 C T 6: 108,364,459 (GRCm39) T22M probably damaging Het
Kif26b G A 1: 178,743,449 (GRCm39) E1182K probably damaging Het
Kirrel3 A G 9: 34,919,034 (GRCm39) E230G probably damaging Het
Leng8 A G 7: 4,142,987 (GRCm39) Y88C probably damaging Het
Lpo T C 11: 87,711,895 (GRCm39) D54G possibly damaging Het
Lypd2 G T 15: 74,604,908 (GRCm39) A29E probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mical3 T C 6: 120,936,434 (GRCm39) Y1364C probably damaging Het
Mroh2b A G 15: 4,935,054 (GRCm39) N163S probably damaging Het
Mtf1 G A 4: 124,718,872 (GRCm39) C295Y probably damaging Het
Nbn T A 4: 15,969,391 (GRCm39) L212Q probably damaging Het
Obscn A T 11: 58,959,852 (GRCm39) probably null Het
Or10ag56 T A 2: 87,139,126 (GRCm39) probably null Het
Or4c110 A G 2: 88,832,435 (GRCm39) S66P probably damaging Het
Peli1 A G 11: 21,098,389 (GRCm39) T375A probably damaging Het
Picalm T C 7: 89,856,803 (GRCm39) *611Q probably null Het
Plch1 G T 3: 63,609,394 (GRCm39) Q938K possibly damaging Het
Plxnb2 A G 15: 89,043,796 (GRCm39) V1352A possibly damaging Het
Pmepa1 G A 2: 173,070,115 (GRCm39) R147W probably damaging Het
Prdm16 T G 4: 154,429,848 (GRCm39) K373Q probably damaging Het
Rad50 T C 11: 53,575,073 (GRCm39) K556E probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sin3a T A 9: 57,018,084 (GRCm39) D834E possibly damaging Het
Smg8 G A 11: 86,971,086 (GRCm39) S895L probably benign Het
Sorl1 T C 9: 41,890,686 (GRCm39) I1944M probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tmprss7 A T 16: 45,481,252 (GRCm39) W645R probably damaging Het
Tns1 T C 1: 73,980,176 (GRCm39) M1111V probably benign Het
Ttn A C 2: 76,608,726 (GRCm39) D17763E probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubr4 G A 4: 139,124,839 (GRCm39) probably benign Het
Usp31 T C 7: 121,260,588 (GRCm39) H637R probably damaging Het
Vps50 A C 6: 3,567,739 (GRCm39) E545A possibly damaging Het
Wdfy3 G T 5: 102,020,724 (GRCm39) L2527M probably damaging Het
Wfdc2 T C 2: 164,405,354 (GRCm39) V85A 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
R5833:Qki UTSW 17 10,435,316 (GRCm39) missense probably damaging 1.00
R6466:Qki UTSW 17 10,434,394 (GRCm39) missense probably benign
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'- GGCTAGTTAGGCTTGTTTCTCTACC -3'
(R):5'- GTCCCATTGCAAGGCTTTTG -3'

Sequencing Primer
(F):5'- AGCAGGGATTTTTGAGCAATCC -3'
(R):5'- GTCCCATTGCAAGGCTTTTGATTAC -3'
Posted On 2017-06-23