Incidental Mutation 'IGL02261:Rbm46'
ID286766
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm46
Ensembl Gene ENSMUSG00000033882
Gene NameRNA binding motif protein 46
SynonymsENSMUSG00000033882, LOC329687
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.220) question?
Stock #IGL02261
Quality Score
Status
Chromosome3
Chromosomal Location82837228-82876483 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 82864416 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 297 (D297E)
Ref Sequence ENSEMBL: ENSMUSP00000138728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048647] [ENSMUST00000182637] [ENSMUST00000182818]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048647
AA Change: D297E

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045511
Gene: ENSMUSG00000033882
AA Change: D297E

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
RRM 62 135 8.13e-15 SMART
RRM 142 219 1.36e-7 SMART
RRM 237 304 4.23e-13 SMART
Pfam:DND1_DSRM 392 468 9.4e-30 PFAM
low complexity region 494 514 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000182637
AA Change: D297E

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138728
Gene: ENSMUSG00000033882
AA Change: D297E

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
RRM 62 135 8.13e-15 SMART
RRM 142 219 1.36e-7 SMART
RRM 237 304 4.23e-13 SMART
Pfam:DND1_DSRM 392 468 1.3e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000182818
AA Change: D297E

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138429
Gene: ENSMUSG00000033882
AA Change: D297E

DomainStartEndE-ValueType
low complexity region 46 60 N/A INTRINSIC
RRM 62 135 8.13e-15 SMART
RRM 142 219 1.36e-7 SMART
RRM 237 304 4.23e-13 SMART
Pfam:DND1_DSRM 392 468 2.1e-29 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,456,948 V27M probably damaging Het
Ank1 A G 8: 23,087,999 N222D probably damaging Het
Bcas3 A T 11: 85,531,930 T542S probably damaging Het
Btbd1 A T 7: 81,805,759 I288N probably damaging Het
Ctps C T 4: 120,542,579 V500I possibly damaging Het
Cul5 A C 9: 53,635,037 V345G probably damaging Het
Dchs1 A G 7: 105,772,569 Y215H probably damaging Het
Dmxl1 T A 18: 49,840,499 M67K possibly damaging Het
Egln2 C T 7: 27,159,866 E353K possibly damaging Het
Fbxw5 G T 2: 25,503,734 A325S probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gaa A G 11: 119,281,265 *207W probably null Het
Herc2 A G 7: 56,206,744 T3947A probably damaging Het
Ifit2 T A 19: 34,574,224 I388N probably damaging Het
Ikzf4 T C 10: 128,636,722 T209A possibly damaging Het
Il17re A T 6: 113,468,511 probably benign Het
Insrr T A 3: 87,800,722 L157Q probably damaging Het
Kcnq2 T G 2: 181,081,690 Y631S probably damaging Het
Lrrfip1 A G 1: 91,112,168 I198V probably benign Het
Mir7684 A T 15: 82,389,144 probably benign Het
Mphosph9 C T 5: 124,260,087 E1049K probably damaging Het
Mroh1 G A 15: 76,429,160 R611Q probably benign Het
Mynn A T 3: 30,607,131 I121F possibly damaging Het
Ndrg2 G A 14: 51,911,109 R32C probably damaging Het
Olfr1178 A G 2: 88,391,381 I45V probably benign Het
Olfr324 T C 11: 58,597,804 I138T probably benign Het
Ppp1r9b A G 11: 95,002,110 E260G probably damaging Het
Psd4 A G 2: 24,401,744 S652G probably damaging Het
Psg25 C T 7: 18,521,343 R416H probably benign Het
Pygm T A 19: 6,388,271 N171K probably damaging Het
Selenov T A 7: 28,290,579 T167S probably benign Het
Serpina10 T C 12: 103,616,949 Y358C probably damaging Het
Slc27a3 T C 3: 90,387,695 R352G probably benign Het
Snx33 T C 9: 56,926,578 D69G probably benign Het
St8sia2 G T 7: 73,966,846 P127H probably damaging Het
Thbd T C 2: 148,406,481 K489R probably benign Het
Ttn A T 2: 76,936,705 C3039S probably damaging Het
Vmn1r167 T C 7: 23,504,836 M252V probably benign Het
Xdh A G 17: 73,913,965 S590P possibly damaging Het
Zfp827 G A 8: 79,180,079 V907I probably damaging Het
Other mutations in Rbm46
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0048:Rbm46 UTSW 3 82864230 missense probably damaging 0.96
R0554:Rbm46 UTSW 3 82865268 missense probably damaging 1.00
R1606:Rbm46 UTSW 3 82864541 missense probably damaging 1.00
R2200:Rbm46 UTSW 3 82864044 missense probably benign 0.00
R2357:Rbm46 UTSW 3 82864458 missense probably benign 0.00
R4646:Rbm46 UTSW 3 82864458 missense probably benign 0.00
R4647:Rbm46 UTSW 3 82864458 missense probably benign 0.00
R4648:Rbm46 UTSW 3 82864458 missense probably benign 0.00
R5584:Rbm46 UTSW 3 82864158 missense probably benign
R5722:Rbm46 UTSW 3 82865333 missense possibly damaging 0.95
R6393:Rbm46 UTSW 3 82863955 missense probably benign 0.03
R7228:Rbm46 UTSW 3 82842533 missense probably benign
R7438:Rbm46 UTSW 3 82842488 nonsense probably null
R7445:Rbm46 UTSW 3 82864210 missense probably damaging 0.99
R7452:Rbm46 UTSW 3 82864121 missense probably benign 0.01
R8195:Rbm46 UTSW 3 82865468 missense probably benign 0.01
R8196:Rbm46 UTSW 3 82865468 missense probably benign 0.01
R8211:Rbm46 UTSW 3 82865468 missense probably benign 0.01
R8212:Rbm46 UTSW 3 82865468 missense probably benign 0.01
R8235:Rbm46 UTSW 3 82865468 missense probably benign 0.01
R8239:Rbm46 UTSW 3 82865468 missense probably benign 0.01
R8276:Rbm46 UTSW 3 82864588 missense probably damaging 0.99
Z1177:Rbm46 UTSW 3 82837318 missense probably damaging 0.99
Posted On2015-04-16