Incidental Mutation 'R7288:Khdrbs3'
ID 566192
Institutional Source Beutler Lab
Gene Symbol Khdrbs3
Ensembl Gene ENSMUSG00000022332
Gene Name KH domain containing, RNA binding, signal transduction associated 3
Synonyms Etle, SLM-2, T-STAR, Salp
MMRRC Submission 045395-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7288 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 68800269-68973060 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68921262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 281 (E281G)
Ref Sequence ENSEMBL: ENSMUSP00000022954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022954] [ENSMUST00000229234] [ENSMUST00000229683] [ENSMUST00000230847]
AlphaFold Q9R226
Predicted Effect possibly damaging
Transcript: ENSMUST00000022954
AA Change: E281G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022954
Gene: ENSMUSG00000022332
AA Change: E281G

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 possibly damaging
Transcript: ENSMUST00000229234
AA Change: E281G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229683
AA Change: E281G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000230847
AA Change: E193G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,771,131 (GRCm39) D204E probably benign Het
Adh1 T G 3: 137,988,493 (GRCm39) D155E probably benign Het
Akt1s1 T C 7: 44,498,571 (GRCm39) L2P unknown Het
Ash1l T A 3: 88,873,199 (GRCm39) probably benign Het
Bend7 C T 2: 4,757,641 (GRCm39) P228S probably damaging Het
Bpifc T C 10: 85,824,585 (GRCm39) E218G possibly damaging Het
Cdk6 T A 5: 3,479,001 (GRCm39) F127Y probably benign Het
Cgnl1 A T 9: 71,632,846 (GRCm39) H168Q possibly damaging Het
Chd7 C T 4: 8,847,093 (GRCm39) T1612I possibly damaging Het
Col4a4 A T 1: 82,470,184 (GRCm39) C782S unknown Het
Copg2 T A 6: 30,801,341 (GRCm39) I364L probably damaging Het
Crygb A G 1: 65,121,084 (GRCm39) L81P probably benign Het
Cyp4f18 A T 8: 72,747,017 (GRCm39) M326K probably damaging Het
Dhx34 A G 7: 15,949,361 (GRCm39) S356P probably benign Het
Dmbt1 C T 7: 130,685,519 (GRCm39) Q855* probably null Het
Dnai3 T C 3: 145,787,007 (GRCm39) T343A probably damaging Het
Dnph1 A G 17: 46,809,938 (GRCm39) N160S probably benign Het
Esrra A T 19: 6,890,139 (GRCm39) C228* probably null Het
Evpl T C 11: 116,114,775 (GRCm39) N972D probably benign Het
Fat3 T C 9: 15,909,888 (GRCm39) D2038G probably damaging Het
Fhit T A 14: 9,763,784 (GRCm38) R102W probably damaging Het
Gal3st1 A T 11: 3,948,609 (GRCm39) D272V probably damaging Het
Gal3st1 T A 11: 3,948,651 (GRCm39) V286D probably damaging Het
Gemin4 A T 11: 76,104,206 (GRCm39) M185K possibly damaging Het
Hecw1 T C 13: 14,490,821 (GRCm39) I311V probably benign Het
Ift172 T C 5: 31,442,630 (GRCm39) Y179C probably damaging Het
Ighv7-3 C T 12: 114,116,963 (GRCm39) W66* probably null Het
Iqgap3 T A 3: 88,016,142 (GRCm39) I975N probably damaging Het
Lamb2 A T 9: 108,365,523 (GRCm39) T1369S probably benign Het
Mettl8 A T 2: 70,812,382 (GRCm39) D84E probably benign Het
Mrgprb3 C A 7: 48,293,059 (GRCm39) C164F probably damaging Het
Mtg2 A G 2: 179,725,180 (GRCm39) Y131C probably damaging Het
Nacc1 C T 8: 85,403,174 (GRCm39) A234T probably benign Het
Nsmaf C T 4: 6,416,641 (GRCm39) V551I probably benign Het
Or13a26 T A 7: 140,284,942 (GRCm39) C259* probably null Het
Or7e175 T A 9: 20,048,737 (GRCm39) Y108* probably null Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Pcdhb12 T A 18: 37,569,068 (GRCm39) D71E probably benign Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pkm A G 9: 59,576,196 (GRCm39) S127G probably benign Het
Plxna2 T A 1: 194,479,227 (GRCm39) L1296H probably damaging Het
Ppil6 C G 10: 41,374,524 (GRCm39) T135R probably benign Het
Ppp2r3d T C 9: 101,004,203 (GRCm39) Y378C probably damaging Het
Rabep2 C T 7: 126,043,377 (GRCm39) R426C probably damaging Het
Rad21 A T 15: 51,845,976 (GRCm39) H31Q possibly damaging Het
Rad50 G T 11: 53,545,776 (GRCm39) Y1182* probably null Het
Serpinb9c C T 13: 33,335,883 (GRCm39) A218T possibly damaging Het
Slc34a1 C A 13: 24,003,095 (GRCm39) H248Q probably benign Het
Slc45a4 C A 15: 73,458,785 (GRCm39) E255* probably null Het
Slc8a3 T A 12: 81,263,598 (GRCm39) K596N possibly damaging Het
Tbc1d32 A C 10: 55,927,483 (GRCm39) probably null Het
Tbl2 T A 5: 135,183,253 (GRCm39) I112N possibly damaging Het
Tchp A C 5: 114,853,630 (GRCm39) K238T probably damaging Het
Tfap2d G A 1: 19,189,207 (GRCm39) G251D probably damaging Het
Thrb T A 14: 18,030,186 (GRCm38) M324K probably damaging Het
Tmem259 A T 10: 79,814,300 (GRCm39) L328Q probably damaging Het
Tmtc2 T C 10: 105,249,469 (GRCm39) H88R probably damaging Het
Tnfrsf21 A G 17: 43,348,709 (GRCm39) H107R possibly damaging Het
Trib1 T C 15: 59,526,471 (GRCm39) V347A probably benign Het
Ung T A 5: 114,269,315 (GRCm39) L9* probably null Het
Vmn1r195 G T 13: 22,463,174 (GRCm39) V215F probably damaging Het
Wdr90 A G 17: 26,065,286 (GRCm39) S1657P probably benign Het
Wdsub1 A T 2: 59,708,487 (GRCm39) Y129N possibly damaging Het
Zfp369 T G 13: 65,432,832 (GRCm39) probably null Het
Zfp770 G T 2: 114,026,142 (GRCm39) C642* probably null Het
Zfp981 C T 4: 146,622,100 (GRCm39) R342C probably benign Het
Zhx3 A C 2: 160,623,042 (GRCm39) V375G probably damaging Het
Other mutations in Khdrbs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02333:Khdrbs3 APN 15 68,921,243 (GRCm39) missense probably damaging 1.00
IGL02756:Khdrbs3 APN 15 68,896,685 (GRCm39) missense probably benign 0.28
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
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
Predicted Primers PCR Primer
(F):5'- AGACAATCTGGGAGCTTCTTGC -3'
(R):5'- TCCACGTGCGATGATGTATGC -3'

Sequencing Primer
(F):5'- GCTTCTTGCTCTGACAGTTTGACTG -3'
(R):5'- ATGCTATTTGGAAGTGGACTCTAC -3'
Posted On 2019-06-26