Incidental Mutation 'IGL02756:Khdrbs3'
ID 306464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Khdrbs3
Ensembl Gene ENSMUSG00000022332
Gene Name KH domain containing, RNA binding, signal transduction associated 3
Synonyms Etle, SLM-2, T-STAR, Salp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02756
Quality Score
Status
Chromosome 15
Chromosomal Location 68800269-68973060 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 68896685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 115 (T115I)
Ref Sequence ENSEMBL: ENSMUSP00000154871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022954] [ENSMUST00000229234] [ENSMUST00000229683] [ENSMUST00000230073] [ENSMUST00000230847]
AlphaFold Q9R226
Predicted Effect probably benign
Transcript: ENSMUST00000022954
AA Change: T203I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000022954
Gene: ENSMUSG00000022332
AA Change: T203I

DomainStartEndE-ValueType
PDB:2XA6|B 2 27 2e-7 PDB
low complexity region 30 44 N/A INTRINSIC
KH 54 152 8.92e-5 SMART
Pfam:Sam68-YY 266 320 3.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229234
AA Change: T203I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000229683
AA Change: T203I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000230073
Predicted Effect probably benign
Transcript: ENSMUST00000230847
AA Change: T115I

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with no detectable spatial memory deficits. Males sire slightly smaller litters than control males. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,000,970 (GRCm39) D54V probably damaging Het
Adamts18 C A 8: 114,440,976 (GRCm39) probably benign Het
Angptl3 T A 4: 98,919,399 (GRCm39) L53Q probably damaging Het
Apc A G 18: 34,447,588 (GRCm39) T1461A probably damaging Het
Arl11 T A 14: 61,548,535 (GRCm39) V115D probably damaging Het
Cabp4 C A 19: 4,188,560 (GRCm39) V173L possibly damaging Het
Casq1 T A 1: 172,042,672 (GRCm39) D230V probably damaging Het
Cdc42bpa A G 1: 179,936,824 (GRCm39) I821V possibly damaging Het
Cfap65 T C 1: 74,944,239 (GRCm39) Y1494C probably benign Het
Chd1 T A 17: 15,951,069 (GRCm39) S215T probably damaging Het
Csf2rb2 T C 15: 78,169,049 (GRCm39) E593G possibly damaging Het
Cstf1 A G 2: 172,217,795 (GRCm39) D136G probably damaging Het
Ddx19b T C 8: 111,737,910 (GRCm39) probably benign Het
Dido1 A T 2: 180,303,716 (GRCm39) L1396Q probably benign Het
Ermn A G 2: 57,937,824 (GRCm39) I263T probably damaging Het
F12 T A 13: 55,568,880 (GRCm39) Q294L possibly damaging Het
Far2 A T 6: 148,058,889 (GRCm39) I192F probably damaging Het
Fshb T A 2: 106,889,218 (GRCm39) I29F probably damaging Het
Gcgr T A 11: 120,427,811 (GRCm39) Y251N probably benign Het
Gpr158 A G 2: 21,831,890 (GRCm39) I997V possibly damaging Het
Gprc5d A G 6: 135,093,613 (GRCm39) V98A probably damaging Het
H2-T23 T C 17: 36,342,580 (GRCm39) E186G probably damaging Het
Kifap3 C T 1: 163,689,597 (GRCm39) T527M probably damaging Het
Mfsd2a C T 4: 122,842,332 (GRCm39) A512T probably benign Het
Mmp9 A G 2: 164,791,235 (GRCm39) D135G probably benign Het
Mylk T C 16: 34,784,016 (GRCm39) V1394A probably benign Het
Nek9 A C 12: 85,358,110 (GRCm39) probably null Het
Or51q1c T C 7: 103,652,866 (GRCm39) I128T probably damaging Het
Or8k16 T C 2: 85,520,402 (GRCm39) S210P probably damaging Het
P2rx2 T A 5: 110,490,276 (GRCm39) probably benign Het
P4htm A G 9: 108,456,977 (GRCm39) L410P probably damaging Het
Pik3c2a A T 7: 115,963,748 (GRCm39) W921R probably benign Het
Pnisr T C 4: 21,862,175 (GRCm39) F288L probably benign Het
Ppp4r3a C T 12: 101,024,582 (GRCm39) probably null Het
Prss34 T C 17: 25,518,251 (GRCm39) S144P probably damaging Het
Qrsl1 T C 10: 43,758,110 (GRCm39) T328A probably benign Het
Rab33b A T 3: 51,391,945 (GRCm39) T65S probably damaging Het
Rdh8 A G 9: 20,736,637 (GRCm39) S235G possibly damaging Het
Rrp12 T C 19: 41,884,500 (GRCm39) K6R probably benign Het
Sec24a T C 11: 51,587,560 (GRCm39) D1025G probably benign Het
Sgo2a T G 1: 58,055,509 (GRCm39) N564K probably damaging Het
Slc43a3 A T 2: 84,774,612 (GRCm39) M130L probably benign Het
Soat1 T C 1: 156,274,145 (GRCm39) I89V probably benign Het
St3gal5 A G 6: 72,126,157 (GRCm39) D307G probably null Het
Stxbp3-ps C T 19: 9,535,193 (GRCm39) noncoding transcript Het
Tacr2 A G 10: 62,097,469 (GRCm39) probably benign Het
Tg C T 15: 66,606,435 (GRCm39) T193I probably benign Het
Tnik A G 3: 28,596,179 (GRCm39) T191A probably damaging Het
Trim27 T C 13: 21,374,256 (GRCm39) probably benign Het
Usf2 A T 7: 30,646,417 (GRCm39) C134* probably null Het
Usp14 A G 18: 10,001,769 (GRCm39) probably null Het
Usp47 T C 7: 111,692,270 (GRCm39) S911P possibly damaging Het
Vmn1r73 T A 7: 11,490,574 (GRCm39) S131T possibly damaging Het
Vmn2r80 T C 10: 79,030,145 (GRCm39) I657T probably damaging Het
Zfp935 A T 13: 62,602,701 (GRCm39) C166* probably null Het
Other mutations in Khdrbs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02333:Khdrbs3 APN 15 68,921,243 (GRCm39) missense probably damaging 1.00
IGL03303:Khdrbs3 APN 15 68,896,672 (GRCm39) missense probably benign 0.00
R0014:Khdrbs3 UTSW 15 68,896,684 (GRCm39) missense probably benign 0.00
R0066:Khdrbs3 UTSW 15 68,866,886 (GRCm39) splice site probably benign
R0487:Khdrbs3 UTSW 15 68,889,210 (GRCm39) missense probably damaging 1.00
R1500:Khdrbs3 UTSW 15 68,800,635 (GRCm39) missense possibly damaging 0.90
R1871:Khdrbs3 UTSW 15 68,921,291 (GRCm39) missense probably damaging 1.00
R2002:Khdrbs3 UTSW 15 68,885,328 (GRCm39) intron probably benign
R2111:Khdrbs3 UTSW 15 68,896,673 (GRCm39) missense probably benign 0.25
R2191:Khdrbs3 UTSW 15 68,964,809 (GRCm39) missense probably damaging 0.96
R2290:Khdrbs3 UTSW 15 68,901,610 (GRCm39) missense probably damaging 1.00
R2516:Khdrbs3 UTSW 15 68,896,544 (GRCm39) splice site probably benign
R2940:Khdrbs3 UTSW 15 68,921,239 (GRCm39) missense probably damaging 1.00
R3418:Khdrbs3 UTSW 15 68,921,224 (GRCm39) splice site probably benign
R5770:Khdrbs3 UTSW 15 68,921,312 (GRCm39) critical splice donor site probably null
R5885:Khdrbs3 UTSW 15 68,896,547 (GRCm39) critical splice acceptor site probably null
R6829:Khdrbs3 UTSW 15 68,964,810 (GRCm39) missense possibly damaging 0.58
R7288:Khdrbs3 UTSW 15 68,921,262 (GRCm39) missense possibly damaging 0.95
R9215:Khdrbs3 UTSW 15 68,964,798 (GRCm39) missense probably damaging 0.99
R9732:Khdrbs3 UTSW 15 68,885,212 (GRCm39) missense probably damaging 1.00
Z1176:Khdrbs3 UTSW 15 68,889,316 (GRCm39) missense probably damaging 1.00
Z1177:Khdrbs3 UTSW 15 68,800,680 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16