Incidental Mutation 'IGL01284:Rbm33'
ID72643
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm33
Ensembl Gene ENSMUSG00000048271
Gene NameRNA binding motif protein 33
Synonyms6430512A10Rik, 3200001K10Rik, Prr8
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01284
Quality Score
Status
Chromosome5
Chromosomal Location28317121-28419239 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 28410709 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 17 (T17A)
Ref Sequence ENSEMBL: ENSMUSP00000122901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059644] [ENSMUST00000114884] [ENSMUST00000133313]
Predicted Effect unknown
Transcript: ENSMUST00000059644
AA Change: T1170A
SMART Domains Protein: ENSMUSP00000062449
Gene: ENSMUSG00000048271
AA Change: T1170A

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 unknown
Transcript: ENSMUST00000114884
AA Change: T1130A
SMART Domains Protein: ENSMUSP00000110534
Gene: ENSMUSG00000048271
AA Change: T1130A

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
Predicted Effect probably damaging
Transcript: ENSMUST00000133313
AA Change: T17A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122901
Gene: ENSMUSG00000048271
AA Change: T17A

DomainStartEndE-ValueType
Pfam:RRM_1 8 65 3.2e-6 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000144967
AA Change: T321A
SMART Domains Protein: ENSMUSP00000121879
Gene: ENSMUSG00000048271
AA Change: T321A

DomainStartEndE-ValueType
RRM 119 186 1.12e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A T 4: 35,218,808 I17N probably damaging Het
Aak1 A T 6: 86,850,053 M1L possibly damaging Het
Agr2 A G 12: 35,995,581 D22G possibly damaging Het
Cck G T 9: 121,490,170 N82K probably benign Het
Cdh23 A T 10: 60,466,097 I402N possibly damaging Het
Cfap157 T C 2: 32,781,479 D105G possibly damaging Het
Dhx9 C A 1: 153,464,898 L665F probably damaging Het
Dlg5 T C 14: 24,146,197 E1621G probably damaging Het
Dst A G 1: 34,163,928 Y713C probably damaging Het
Fbp2 T C 13: 62,840,285 S271G probably benign Het
Gp5 G T 16: 30,309,210 S215R probably benign Het
Kpnb1 A G 11: 97,166,102 M647T probably damaging Het
Masp2 A G 4: 148,614,007 E515G probably damaging Het
Mfge8 A G 7: 79,136,782 S290P probably damaging Het
Negr1 C T 3: 157,146,217 P219S probably damaging Het
Nkx2-6 T C 14: 69,171,877 S26P probably benign Het
Olfr517 C T 7: 108,868,275 R293K possibly damaging Het
Pdzd9 A C 7: 120,660,271 Y165D possibly damaging Het
Pik3ca C T 3: 32,462,584 A987V probably damaging Het
Pomp T A 5: 147,860,681 probably benign Het
Skiv2l T C 17: 34,839,688 probably benign Het
Slc4a4 G A 5: 89,129,673 A334T probably benign Het
Tecta A G 9: 42,345,620 F1587L probably damaging Het
Tex29 C A 8: 11,844,231 Y46* probably null Het
Tgm5 A G 2: 121,052,547 S410P possibly damaging Het
Tmtc2 A G 10: 105,271,511 Y714H possibly damaging Het
Tubgcp6 C T 15: 89,110,055 R468Q probably damaging Het
Other mutations in Rbm33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Rbm33 APN 5 28387848 missense probably damaging 1.00
IGL01565:Rbm33 APN 5 28391079 unclassified probably benign
IGL02119:Rbm33 APN 5 28339017 missense probably damaging 1.00
IGL02740:Rbm33 APN 5 28331123 missense probably damaging 1.00
IGL02869:Rbm33 APN 5 28410755 missense probably damaging 0.99
IGL03355:Rbm33 APN 5 28391061 unclassified probably benign
IGL03381:Rbm33 APN 5 28394392 missense unknown
FR4449:Rbm33 UTSW 5 28394168 small deletion probably benign
FR4548:Rbm33 UTSW 5 28394201 small deletion probably benign
R0091:Rbm33 UTSW 5 28352606 missense possibly damaging 0.94
R0725:Rbm33 UTSW 5 28394483 missense unknown
R1522:Rbm33 UTSW 5 28337004 missense probably damaging 1.00
R1918:Rbm33 UTSW 5 28387917 missense probably damaging 1.00
R2186:Rbm33 UTSW 5 28394230 missense unknown
R2448:Rbm33 UTSW 5 28342417 missense probably benign 0.01
R4151:Rbm33 UTSW 5 28387940 missense probably damaging 1.00
R4685:Rbm33 UTSW 5 28408282 unclassified probably benign
R4787:Rbm33 UTSW 5 28342437 intron probably null
R4954:Rbm33 UTSW 5 28339276 missense probably damaging 1.00
R5013:Rbm33 UTSW 5 28342411 missense probably benign 0.05
R5141:Rbm33 UTSW 5 28352689 missense probably damaging 1.00
R5248:Rbm33 UTSW 5 28337052 critical splice donor site probably null
R5259:Rbm33 UTSW 5 28352774 intron probably null
R5695:Rbm33 UTSW 5 28339012 missense probably damaging 1.00
R5790:Rbm33 UTSW 5 28339298 missense probably damaging 1.00
R6591:Rbm33 UTSW 5 28352546 missense probably damaging 0.99
R6668:Rbm33 UTSW 5 28342500 missense probably benign 0.01
R6691:Rbm33 UTSW 5 28352546 missense probably damaging 0.99
R6930:Rbm33 UTSW 5 28352506 missense probably benign 0.09
R6931:Rbm33 UTSW 5 28410745 missense probably damaging 1.00
R7034:Rbm33 UTSW 5 28394498 missense unknown
R7056:Rbm33 UTSW 5 28394003 unclassified probably benign
R7224:Rbm33 UTSW 5 28394324 missense
R7579:Rbm33 UTSW 5 28368266 missense probably damaging 1.00
R7922:Rbm33 UTSW 5 28368399 intron probably null
RF011:Rbm33 UTSW 5 28394181 small deletion probably benign
RF026:Rbm33 UTSW 5 28394181 small deletion probably benign
RF047:Rbm33 UTSW 5 28394162 small insertion probably benign
Posted On2013-10-07