Incidental Mutation 'R8051:Rbm33'
ID 619044
Institutional Source Beutler Lab
Gene Symbol Rbm33
Ensembl Gene ENSMUSG00000048271
Gene Name RNA binding motif protein 33
Synonyms 3200001K10Rik, 6430512A10Rik, Prr8
MMRRC Submission 067488-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8051 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 28522119-28624237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28557623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 279 (N279D)
Ref Sequence ENSEMBL: ENSMUSP00000030920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030920] [ENSMUST00000059644] [ENSMUST00000090355] [ENSMUST00000114884]
AlphaFold Q9CXK9
Predicted Effect probably damaging
Transcript: ENSMUST00000030920
AA Change: N279D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030920
Gene: ENSMUSG00000048271
AA Change: N279D

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 36 55 N/A INTRINSIC
low complexity region 59 81 N/A INTRINSIC
low complexity region 109 124 N/A INTRINSIC
low complexity region 191 202 N/A INTRINSIC
low complexity region 241 253 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000059644
AA Change: N279D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062449
Gene: ENSMUSG00000048271
AA Change: N279D

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 36 55 N/A INTRINSIC
low complexity region 59 81 N/A INTRINSIC
low complexity region 109 124 N/A INTRINSIC
low complexity region 191 202 N/A INTRINSIC
low complexity region 241 253 N/A INTRINSIC
low complexity region 282 301 N/A INTRINSIC
low complexity region 307 327 N/A INTRINSIC
low complexity region 362 407 N/A INTRINSIC
low complexity region 444 460 N/A INTRINSIC
low complexity region 625 707 N/A INTRINSIC
low complexity region 817 837 N/A INTRINSIC
coiled coil region 846 891 N/A INTRINSIC
RRM 1160 1227 1.12e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000090355
AA Change: N239D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091512
Gene: ENSMUSG00000048271
AA Change: N239D

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 36 55 N/A INTRINSIC
low complexity region 59 81 N/A INTRINSIC
low complexity region 109 124 N/A INTRINSIC
low complexity region 201 213 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114884
AA Change: N239D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110534
Gene: ENSMUSG00000048271
AA Change: N239D

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 36 55 N/A INTRINSIC
low complexity region 59 81 N/A INTRINSIC
low complexity region 109 124 N/A INTRINSIC
low complexity region 201 213 N/A INTRINSIC
low complexity region 242 261 N/A INTRINSIC
low complexity region 267 287 N/A INTRINSIC
low complexity region 322 367 N/A INTRINSIC
low complexity region 404 420 N/A INTRINSIC
low complexity region 585 667 N/A INTRINSIC
low complexity region 777 797 N/A INTRINSIC
coiled coil region 806 851 N/A INTRINSIC
RRM 1120 1187 4.7e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T A 7: 78,750,527 (GRCm39) L1766Q probably damaging Het
Adgrl3 A G 5: 81,613,113 (GRCm39) Y114C probably damaging Het
Ano9 T A 7: 140,684,445 (GRCm39) I472F probably damaging Het
Arhgap10 A G 8: 78,244,309 (GRCm39) F35S probably damaging Het
Bltp2 G A 11: 78,164,238 (GRCm39) probably benign Het
Btnl2 T A 17: 34,582,473 (GRCm39) D346E probably damaging Het
C4bp A T 1: 130,583,705 (GRCm39) C88S probably damaging Het
Cavin2 A T 1: 51,340,283 (GRCm39) Q320L probably benign Het
Chtf18 C A 17: 25,942,453 (GRCm39) V462L probably benign Het
Crisp3 A T 17: 40,543,451 (GRCm39) S134R probably benign Het
Dlg4 C A 11: 69,922,468 (GRCm39) probably benign Het
Dsc3 A T 18: 20,114,270 (GRCm39) M328K probably damaging Het
Efemp2 T A 19: 5,526,095 (GRCm39) D73E probably damaging Het
Fbn1 C T 2: 125,148,383 (GRCm39) A2622T possibly damaging Het
Flt1 T C 5: 147,519,501 (GRCm39) H938R probably benign Het
Flt3 T G 5: 147,295,765 (GRCm39) probably benign Het
Fnbp4 T C 2: 90,608,083 (GRCm39) V935A possibly damaging Het
Frem2 T C 3: 53,442,776 (GRCm39) N2587S probably benign Het
Gabbr2 C T 4: 46,736,349 (GRCm39) probably null Het
Gm36864 A T 7: 43,891,976 (GRCm39) I385F probably benign Het
Il17re G T 6: 113,436,328 (GRCm39) R47L probably benign Het
Il27ra A G 8: 84,760,578 (GRCm39) probably null Het
Irf4 A G 13: 30,945,456 (GRCm39) I401V probably damaging Het
Kat6a T C 8: 23,400,265 (GRCm39) L342S probably damaging Het
Klc1 T A 12: 111,748,384 (GRCm39) C390S possibly damaging Het
Klhl22 A T 16: 17,610,443 (GRCm39) I565F probably damaging Het
Krt26 A T 11: 99,228,672 (GRCm39) L20Q probably damaging Het
Lamb3 T C 1: 193,012,375 (GRCm39) V384A possibly damaging Het
Lmo2 T A 2: 103,801,045 (GRCm39) L80Q possibly damaging Het
Lrrc37a T G 11: 103,393,952 (GRCm39) E491A possibly damaging Het
Ninj1 T A 13: 49,347,288 (GRCm39) M51K probably damaging Het
Or11g26 C A 14: 50,753,100 (GRCm39) N146K probably benign Het
Or12d17 G A 17: 37,777,213 (GRCm39) G39R probably damaging Het
Plppr3 T A 10: 79,702,838 (GRCm39) T142S probably damaging Het
Rab2b T C 14: 52,506,153 (GRCm39) D103G probably damaging Het
Rap1gap2 G T 11: 74,286,651 (GRCm39) R550S probably damaging Het
Rhox9 C T X: 36,990,253 (GRCm39) G40R probably benign Het
Selplg G A 5: 113,957,502 (GRCm39) T268I probably damaging Het
Slc20a1 T C 2: 129,050,120 (GRCm39) M426T possibly damaging Het
Spata18 A T 5: 73,827,063 (GRCm39) Y220F Het
Spns1 T C 7: 125,971,708 (GRCm39) T281A probably benign Het
Sptan1 C T 2: 29,920,171 (GRCm39) R2288C probably damaging Het
Tacstd2 T C 6: 67,512,383 (GRCm39) D103G probably damaging Het
Tmem121 C T 12: 113,152,487 (GRCm39) A235V probably benign Het
Try4 A G 6: 41,281,996 (GRCm39) D194G probably damaging Het
Tyrp1 C A 4: 80,755,897 (GRCm39) T222K probably damaging Het
Zfp57 T A 17: 37,320,785 (GRCm39) V213D probably damaging Het
Zfy2 A T Y: 2,117,380 (GRCm39) probably benign Het
Zkscan4 G A 13: 21,668,823 (GRCm39) G454R not run Het
Other mutations in Rbm33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Rbm33 APN 5 28,615,707 (GRCm39) missense probably damaging 0.98
IGL01470:Rbm33 APN 5 28,592,846 (GRCm39) missense probably damaging 1.00
IGL01565:Rbm33 APN 5 28,596,077 (GRCm39) unclassified probably benign
IGL02119:Rbm33 APN 5 28,544,015 (GRCm39) missense probably damaging 1.00
IGL02740:Rbm33 APN 5 28,536,121 (GRCm39) missense probably damaging 1.00
IGL02869:Rbm33 APN 5 28,615,753 (GRCm39) missense probably damaging 0.99
IGL03355:Rbm33 APN 5 28,596,059 (GRCm39) unclassified probably benign
IGL03381:Rbm33 APN 5 28,599,390 (GRCm39) missense unknown
FR4449:Rbm33 UTSW 5 28,599,166 (GRCm39) small deletion probably benign
FR4548:Rbm33 UTSW 5 28,599,199 (GRCm39) small deletion probably benign
R0091:Rbm33 UTSW 5 28,557,604 (GRCm39) missense possibly damaging 0.94
R0725:Rbm33 UTSW 5 28,599,481 (GRCm39) missense unknown
R1522:Rbm33 UTSW 5 28,542,002 (GRCm39) missense probably damaging 1.00
R1918:Rbm33 UTSW 5 28,592,915 (GRCm39) missense probably damaging 1.00
R2186:Rbm33 UTSW 5 28,599,228 (GRCm39) missense unknown
R2448:Rbm33 UTSW 5 28,547,415 (GRCm39) missense probably benign 0.01
R4151:Rbm33 UTSW 5 28,592,938 (GRCm39) missense probably damaging 1.00
R4685:Rbm33 UTSW 5 28,613,280 (GRCm39) unclassified probably benign
R4787:Rbm33 UTSW 5 28,547,435 (GRCm39) splice site probably null
R4954:Rbm33 UTSW 5 28,544,274 (GRCm39) missense probably damaging 1.00
R5013:Rbm33 UTSW 5 28,547,409 (GRCm39) missense probably benign 0.05
R5141:Rbm33 UTSW 5 28,557,687 (GRCm39) missense probably damaging 1.00
R5248:Rbm33 UTSW 5 28,542,050 (GRCm39) critical splice donor site probably null
R5259:Rbm33 UTSW 5 28,557,772 (GRCm39) splice site probably null
R5695:Rbm33 UTSW 5 28,544,010 (GRCm39) missense probably damaging 1.00
R5790:Rbm33 UTSW 5 28,544,296 (GRCm39) missense probably damaging 1.00
R6591:Rbm33 UTSW 5 28,557,544 (GRCm39) missense probably damaging 0.99
R6668:Rbm33 UTSW 5 28,547,498 (GRCm39) missense probably benign 0.01
R6691:Rbm33 UTSW 5 28,557,544 (GRCm39) missense probably damaging 0.99
R6930:Rbm33 UTSW 5 28,557,504 (GRCm39) missense probably benign 0.09
R6931:Rbm33 UTSW 5 28,615,743 (GRCm39) missense probably damaging 1.00
R7034:Rbm33 UTSW 5 28,599,496 (GRCm39) missense unknown
R7056:Rbm33 UTSW 5 28,599,001 (GRCm39) unclassified probably benign
R7224:Rbm33 UTSW 5 28,599,322 (GRCm39) missense
R7579:Rbm33 UTSW 5 28,573,264 (GRCm39) missense probably damaging 1.00
R7839:Rbm33 UTSW 5 28,573,397 (GRCm39) splice site probably null
R7961:Rbm33 UTSW 5 28,599,606 (GRCm39) missense
R8009:Rbm33 UTSW 5 28,599,606 (GRCm39) missense
R8265:Rbm33 UTSW 5 28,599,322 (GRCm39) missense
R8461:Rbm33 UTSW 5 28,592,970 (GRCm39) missense probably damaging 1.00
R8734:Rbm33 UTSW 5 28,557,874 (GRCm39) intron probably benign
R9206:Rbm33 UTSW 5 28,557,584 (GRCm39) missense probably damaging 1.00
R9233:Rbm33 UTSW 5 28,544,239 (GRCm39) missense probably benign 0.00
R9376:Rbm33 UTSW 5 28,544,164 (GRCm39) missense probably damaging 1.00
R9731:Rbm33 UTSW 5 28,544,242 (GRCm39) missense probably damaging 1.00
RF011:Rbm33 UTSW 5 28,599,179 (GRCm39) small deletion probably benign
RF026:Rbm33 UTSW 5 28,599,179 (GRCm39) small deletion probably benign
RF047:Rbm33 UTSW 5 28,599,160 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- CCAGGCACTTTGAGCTGTAC -3'
(R):5'- TGAGCATAGCACAACTGGGC -3'

Sequencing Primer
(F):5'- AAGTGACTGTGTACTCATTCTCTC -3'
(R):5'- GCACCAGCCTCACTTATACCATG -3'
Posted On 2020-01-23