Incidental Mutation 'R2191:Khdrbs3'
ID 238139
Institutional Source Beutler Lab
Gene Symbol Khdrbs3
Ensembl Gene ENSMUSG00000022332
Gene Name KH domain containing, RNA binding, signal transduction associated 3
Synonyms T-STAR, SLM-2, Etle, Salp
MMRRC Submission 040193-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R2191 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 68928420-69101211 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 69092960 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 249 (V249F)
Ref Sequence ENSEMBL: ENSMUSP00000154871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022954] [ENSMUST00000229234] [ENSMUST00000229683] [ENSMUST00000230847]
AlphaFold Q9R226
Predicted Effect possibly damaging
Transcript: ENSMUST00000022954
AA Change: V337F

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022954
Gene: ENSMUSG00000022332
AA Change: V337F

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: V337F

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229683
AA Change: V337F

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000230847
AA Change: V249F

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.1%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,078,866 S716P possibly damaging Het
Abcb5 A C 12: 118,867,956 N1220K probably damaging Het
Acsl3 A T 1: 78,699,140 E479D probably damaging Het
Actn1 A T 12: 80,171,802 L736* probably null Het
Adcyap1 A G 17: 93,200,026 S5G possibly damaging Het
Adgrv1 T C 13: 81,566,290 N958S possibly damaging Het
Armc1 T A 3: 19,134,061 N274Y probably damaging Het
Atp9b G A 18: 80,753,051 R926W probably damaging Het
Cacna1e G T 1: 154,443,845 Q1370K probably damaging Het
Ccdc129 A T 6: 55,967,719 Q475L probably benign Het
Cdip1 C T 16: 4,770,063 S12N probably benign Het
Chrna3 T A 9: 55,016,045 I160F probably damaging Het
Cnot1 A G 8: 95,761,426 I534T probably damaging Het
Cr2 T A 1: 195,163,381 I465F possibly damaging Het
Daw1 A G 1: 83,192,663 D232G probably benign Het
Dcaf6 T C 1: 165,422,864 T144A probably benign Het
Dhx30 A T 9: 110,086,118 probably null Het
Dnah7a A G 1: 53,605,875 S1001P possibly damaging Het
Dnajb9 T C 12: 44,207,073 T184A probably benign Het
Dsg1b T C 18: 20,409,618 *1061Q probably null Het
Dvl1 G A 4: 155,847,816 V28I possibly damaging Het
Edem3 T A 1: 151,796,883 V450D probably damaging Het
Ephb6 G T 6: 41,616,085 R419L possibly damaging Het
Fbxo10 G C 4: 45,044,811 P608R probably damaging Het
Flrt1 A G 19: 7,095,829 I451T probably damaging Het
Gm6309 A T 5: 146,168,871 V161E possibly damaging Het
Gm884 A C 11: 103,618,967 probably benign Het
Heatr5b A G 17: 78,773,677 L1382P probably damaging Het
Igsf1 C A X: 49,783,150 L714F probably damaging Het
Inpp4b C T 8: 81,997,302 P488S probably damaging Het
Ints6l T A X: 56,504,750 H678Q probably benign Het
Kdm2a A T 19: 4,356,931 probably null Het
Kmt2d A T 15: 98,861,049 probably null Het
Laptm4a T C 12: 8,922,296 probably null Het
Lrp2bp C T 8: 46,013,169 T105I probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,185,261 probably null Het
Mtmr3 A T 11: 4,499,032 W244R probably damaging Het
Myo18a A G 11: 77,818,615 D138G probably damaging Het
Nlrp9b A T 7: 20,023,662 I275L probably benign Het
Nol6 C T 4: 41,118,720 R719H probably benign Het
Olfr191 A T 16: 59,085,675 D269E probably benign Het
Olfr441 T C 6: 43,116,065 S108P probably benign Het
Olfr937 A T 9: 39,060,405 I87K probably benign Het
Omt2b G A 9: 78,328,175 probably benign Het
Pclo C T 5: 14,713,848 L4112F unknown Het
Pglyrp2 T C 17: 32,415,957 N477S probably benign Het
Phf20 T C 2: 156,276,654 V426A probably benign Het
Pla2g4e CTT CTTT 2: 120,191,199 probably null Het
Plagl1 A C 10: 13,128,941 probably benign Het
Ppip5k2 A G 1: 97,744,110 V479A probably damaging Het
Prkdc A C 16: 15,698,824 T1021P probably damaging Het
Rdh7 C T 10: 127,888,598 V6I probably benign Het
Rictor A T 15: 6,759,614 H237L probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,579,907 probably benign Het
Rttn T C 18: 89,095,648 probably null Het
Setd5 C T 6: 113,111,429 Q173* probably null Het
Sipa1l1 T A 12: 82,396,691 Y918* probably null Het
Slc13a1 T G 6: 24,134,397 E162D possibly damaging Het
Slc39a9 G A 12: 80,662,527 A52T probably damaging Het
Srebf1 T C 11: 60,220,539 D2G probably damaging Het
Stab1 T C 14: 31,159,270 N601S probably damaging Het
Stab1 A T 14: 31,142,800 M66K probably benign Het
Sv2b C T 7: 75,124,088 G545D probably damaging Het
Syt5 G A 7: 4,543,089 Q101* probably null Het
Thada A G 17: 84,446,521 F341L probably benign Het
Tln2 T G 9: 67,355,221 I585L probably damaging Het
Tmem67 C G 4: 12,069,413 probably null Het
Tonsl G T 15: 76,632,680 L917M probably damaging Het
Ttk A G 9: 83,862,183 K519E probably damaging Het
Ttn T C 2: 76,707,134 T34817A probably benign Het
Ubr1 A T 2: 120,926,047 S700T probably damaging Het
Unc13b C A 4: 43,245,566 C1312* probably null Het
Usp36 A G 11: 118,285,023 L104P possibly damaging Het
Vmn1r216 T C 13: 23,099,233 F29L probably benign Het
Vmn1r225 T C 17: 20,502,885 I196T probably damaging Het
Vmn1r50 T C 6: 90,108,139 F289L probably benign Het
Ythdf3 T C 3: 16,203,211 probably benign Het
Zfp507 T A 7: 35,794,843 K258N probably damaging Het
Zscan5b A G 7: 6,231,443 H156R possibly damaging Het
Other mutations in Khdrbs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02333:Khdrbs3 APN 15 69049394 missense probably damaging 1.00
IGL02756:Khdrbs3 APN 15 69024836 missense probably benign 0.28
IGL03303:Khdrbs3 APN 15 69024823 missense probably benign 0.00
R0014:Khdrbs3 UTSW 15 69024835 missense probably benign 0.00
R0066:Khdrbs3 UTSW 15 68995037 splice site probably benign
R0487:Khdrbs3 UTSW 15 69017361 missense probably damaging 1.00
R1500:Khdrbs3 UTSW 15 68928786 missense possibly damaging 0.90
R1871:Khdrbs3 UTSW 15 69049442 missense probably damaging 1.00
R2002:Khdrbs3 UTSW 15 69013479 intron probably benign
R2111:Khdrbs3 UTSW 15 69024824 missense probably benign 0.25
R2290:Khdrbs3 UTSW 15 69029761 missense probably damaging 1.00
R2516:Khdrbs3 UTSW 15 69024695 splice site probably benign
R2940:Khdrbs3 UTSW 15 69049390 missense probably damaging 1.00
R3418:Khdrbs3 UTSW 15 69049375 splice site probably benign
R5770:Khdrbs3 UTSW 15 69049463 critical splice donor site probably null
R5885:Khdrbs3 UTSW 15 69024698 critical splice acceptor site probably null
R6829:Khdrbs3 UTSW 15 69092961 missense possibly damaging 0.58
R7288:Khdrbs3 UTSW 15 69049413 missense possibly damaging 0.95
R9215:Khdrbs3 UTSW 15 69092949 missense probably damaging 0.99
R9732:Khdrbs3 UTSW 15 69013363 missense probably damaging 1.00
Z1176:Khdrbs3 UTSW 15 69017467 missense probably damaging 1.00
Z1177:Khdrbs3 UTSW 15 68928831 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGCCATCTTGTTGCTGATGAC -3'
(R):5'- GCTTCAACAAAGTGGCTTTAAGTTC -3'

Sequencing Primer
(F):5'- CATCTTGTTGCTGATGACATGATC -3'
(R):5'- CAAAGTGGCTTTAAGTTCCATCC -3'
Posted On 2014-10-02