Incidental Mutation 'R5722:Rbm46'
ID 452254
Institutional Source Beutler Lab
Gene Symbol Rbm46
Ensembl Gene ENSMUSG00000033882
Gene Name RNA binding motif protein 46
Synonyms ENSMUSG00000033882, LOC329687
MMRRC Submission 043340-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R5722 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 82744535-82783790 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82772640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 164 (V164A)
Ref Sequence ENSEMBL: ENSMUSP00000045511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048647] [ENSMUST00000182637] [ENSMUST00000182818]
AlphaFold P86049
Predicted Effect possibly damaging
Transcript: ENSMUST00000048647
AA Change: V164A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045511
Gene: ENSMUSG00000033882
AA Change: V164A

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: V164A

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138728
Gene: ENSMUSG00000033882
AA Change: V164A

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 probably benign
Transcript: ENSMUST00000182818
AA Change: V164A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138429
Gene: ENSMUSG00000033882
AA Change: V164A

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a G A 3: 32,772,194 (GRCm39) R164H probably damaging Het
Afg3l2 A G 18: 67,573,269 (GRCm39) Y178H probably benign Het
Agtr1a A G 13: 30,566,016 (GRCm39) *360W probably null Het
Arfgef1 A G 1: 10,209,109 (GRCm39) V1830A probably benign Het
Asic2 A T 11: 81,858,806 (GRCm39) S69T probably benign Het
Axin1 A T 17: 26,401,531 (GRCm39) N368Y probably damaging Het
Brme1 A G 8: 84,898,473 (GRCm39) E537G probably damaging Het
Ces1d G A 8: 93,904,756 (GRCm39) P328L probably benign Het
Cndp2 T A 18: 84,686,203 (GRCm39) K461* probably null Het
Cntnap5c A T 17: 58,620,852 (GRCm39) H977L probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Glg1 T C 8: 111,896,194 (GRCm39) T177A possibly damaging Het
Gm7168 T C 17: 14,169,824 (GRCm39) V397A probably benign Het
Hif1a T A 12: 73,988,533 (GRCm39) D535E probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ice1 T C 13: 70,763,219 (GRCm39) E173G possibly damaging Het
Ighmbp2 A G 19: 3,329,909 (GRCm39) V115A probably damaging Het
Irf2 A T 8: 47,271,831 (GRCm39) E101D possibly damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kyat1 C T 2: 30,078,123 (GRCm39) C127Y probably damaging Het
Mrgpra4 T C 7: 47,630,755 (GRCm39) H282R probably benign Het
Npsr1 C A 9: 24,225,096 (GRCm39) P368Q probably damaging Het
Nwd1 G A 8: 73,401,872 (GRCm39) V839M probably damaging Het
Or51a43 T A 7: 103,717,930 (GRCm39) M103L probably damaging Het
Or6n2 G T 1: 173,897,436 (GRCm39) D191Y probably damaging Het
P4ha3 A G 7: 99,955,198 (GRCm39) D351G probably benign Het
Pard3b T A 1: 62,479,160 (GRCm39) probably null Het
Pgap6 CGGGG CGGGGG 17: 26,339,536 (GRCm39) probably null Het
Pik3c2b G T 1: 133,031,574 (GRCm39) G1505W probably damaging Het
Plppr5 A T 3: 117,414,714 (GRCm39) I112L probably benign Het
Potefam1 T A 2: 111,034,468 (GRCm39) T355S probably benign Het
Ptprq A G 10: 107,522,226 (GRCm39) I575T possibly damaging Het
Ranbp3l A G 15: 9,029,656 (GRCm39) E46G probably damaging Het
Sap25 A G 5: 137,639,713 (GRCm39) E13G probably benign Het
Setbp1 A T 18: 78,899,860 (GRCm39) V1269E possibly damaging Het
Smgc T A 15: 91,726,109 (GRCm39) S18R possibly damaging Het
Snrk T C 9: 121,993,072 (GRCm39) I345T probably benign Het
Sp4 T A 12: 118,262,976 (GRCm39) I357F possibly damaging Het
Sra1 A G 18: 36,808,031 (GRCm39) L399P probably damaging Het
Stat6 A G 10: 127,494,242 (GRCm39) T658A probably benign Het
Sv2a G A 3: 96,092,339 (GRCm39) R13H probably benign Het
Thoc3 G T 13: 54,608,014 (GRCm39) T310N probably damaging Het
Tox3 A C 8: 91,074,489 (GRCm39) probably null Het
Trpc6 A G 9: 8,680,550 (GRCm39) E848G possibly damaging Het
Ttn T A 2: 76,538,590 (GRCm39) T34703S possibly damaging Het
Ttn T C 2: 76,776,312 (GRCm39) I1577V probably damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Ugt2b36 C T 5: 87,240,297 (GRCm39) W29* probably null Het
Wdr17 C T 8: 55,113,806 (GRCm39) probably null Het
Zfp790 C A 7: 29,529,514 (GRCm39) S733* probably null Het
Other mutations in Rbm46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02261:Rbm46 APN 3 82,771,723 (GRCm39) missense possibly damaging 0.85
R0048:Rbm46 UTSW 3 82,771,537 (GRCm39) missense probably damaging 0.96
R0554:Rbm46 UTSW 3 82,772,575 (GRCm39) missense probably damaging 1.00
R1606:Rbm46 UTSW 3 82,771,848 (GRCm39) missense probably damaging 1.00
R2200:Rbm46 UTSW 3 82,771,351 (GRCm39) missense probably benign 0.00
R2357:Rbm46 UTSW 3 82,771,765 (GRCm39) missense probably benign 0.00
R4646:Rbm46 UTSW 3 82,771,765 (GRCm39) missense probably benign 0.00
R4647:Rbm46 UTSW 3 82,771,765 (GRCm39) missense probably benign 0.00
R4648:Rbm46 UTSW 3 82,771,765 (GRCm39) missense probably benign 0.00
R5584:Rbm46 UTSW 3 82,771,465 (GRCm39) missense probably benign
R6393:Rbm46 UTSW 3 82,771,262 (GRCm39) missense probably benign 0.03
R7228:Rbm46 UTSW 3 82,749,840 (GRCm39) missense probably benign
R7438:Rbm46 UTSW 3 82,749,795 (GRCm39) nonsense probably null
R7445:Rbm46 UTSW 3 82,771,517 (GRCm39) missense probably damaging 0.99
R7452:Rbm46 UTSW 3 82,771,428 (GRCm39) missense probably benign 0.01
R8195:Rbm46 UTSW 3 82,772,775 (GRCm39) missense probably benign 0.01
R8196:Rbm46 UTSW 3 82,772,775 (GRCm39) missense probably benign 0.01
R8211:Rbm46 UTSW 3 82,772,775 (GRCm39) missense probably benign 0.01
R8212:Rbm46 UTSW 3 82,772,775 (GRCm39) missense probably benign 0.01
R8235:Rbm46 UTSW 3 82,772,775 (GRCm39) missense probably benign 0.01
R8239:Rbm46 UTSW 3 82,772,775 (GRCm39) missense probably benign 0.01
R8276:Rbm46 UTSW 3 82,771,895 (GRCm39) missense probably damaging 0.99
R9610:Rbm46 UTSW 3 82,771,541 (GRCm39) missense probably benign 0.03
Z1177:Rbm46 UTSW 3 82,744,625 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTCTTCATGTGGCATTATATAGC -3'
(R):5'- CCTGTATTTGAAAGAGCTGGGAAG -3'

Sequencing Primer
(F):5'- AATCAGCTTTCTCCTGGC -3'
(R):5'- TTAGTGGTGAAAATAGAGGTTATGC -3'
Posted On 2017-01-03