Incidental Mutation 'IGL01338:Relb'
ID278287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Relb
Ensembl Gene ENSMUSG00000002983
Gene Nameavian reticuloendotheliosis viral (v-rel) oncogene related B
Synonymsshep
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.923) question?
Stock #IGL01338
Quality Score
Status
Chromosome7
Chromosomal Location19606217-19629438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 19616373 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 218 (I218V)
Ref Sequence ENSEMBL: ENSMUSP00000050166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049912] [ENSMUST00000094762] [ENSMUST00000098754] [ENSMUST00000141586] [ENSMUST00000153309] [ENSMUST00000208087]
Predicted Effect probably benign
Transcript: ENSMUST00000049912
AA Change: I218V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000050166
Gene: ENSMUSG00000002983
AA Change: I218V

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
low complexity region 73 82 N/A INTRINSIC
Pfam:RHD 102 270 1.3e-65 PFAM
IPT 277 373 1.26e-24 SMART
low complexity region 449 464 N/A INTRINSIC
low complexity region 478 506 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094762
AA Change: I221V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000092355
Gene: ENSMUSG00000002983
AA Change: I221V

DomainStartEndE-ValueType
Pfam:RelB_leu_zip 1 84 1.2e-43 PFAM
Pfam:RHD_DNA_bind 105 273 3.7e-66 PFAM
IPT 280 376 1.26e-24 SMART
Pfam:RelB_transactiv 381 558 3.2e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098754
AA Change: I221V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000096350
Gene: ENSMUSG00000002983
AA Change: I221V

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
low complexity region 76 85 N/A INTRINSIC
Pfam:RHD 105 273 3.7e-66 PFAM
IPT 280 376 1.26e-24 SMART
low complexity region 452 467 N/A INTRINSIC
low complexity region 481 509 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137615
Predicted Effect probably benign
Transcript: ENSMUST00000141586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148040
Predicted Effect probably benign
Transcript: ENSMUST00000153309
Predicted Effect probably benign
Transcript: ENSMUST00000208087
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutant homozygotes die prematurely with phenotypes including inflammatory cell infiltration of organs, myeloid hyperplasia, splenomegaly, reduction in thymic dendritic cells, impaired cellular immunity, hyperkeratosis, epidermal hyperplasia, or hepatitiswith mononuclear infiltration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik T C 16: 90,926,048 N266S possibly damaging Het
Adam23 A G 1: 63,551,855 T494A possibly damaging Het
Adamts16 C T 13: 70,836,115 C143Y probably damaging Het
Cacna1i A G 15: 80,348,380 I195V probably damaging Het
Casp7 T C 19: 56,404,464 S17P probably benign Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpvl T A 6: 53,974,655 S48C possibly damaging Het
Cyp2b19 G T 7: 26,759,417 M138I probably benign Het
Dennd5a T C 7: 109,919,404 Y510C possibly damaging Het
Derl2 A G 11: 71,010,355 F229S possibly damaging Het
Dlec1 A G 9: 119,120,911 E452G probably damaging Het
Dsc2 T C 18: 20,047,157 K180E probably benign Het
Dus1l G A 11: 120,793,092 R177C possibly damaging Het
Egfr A G 11: 16,863,020 I167V probably damaging Het
Fam219b A T 9: 57,538,022 probably null Het
Fn1 T C 1: 71,626,210 E916G probably damaging Het
Gm2058 C T 7: 39,589,156 noncoding transcript Het
Gpd1 T A 15: 99,718,175 V22E probably damaging Het
Hsf2 T C 10: 57,501,379 F124L probably damaging Het
I0C0044D17Rik A G 4: 98,820,099 probably benign Het
Igfbp3 A T 11: 7,208,478 F262I possibly damaging Het
Klhl18 A G 9: 110,455,433 Y62H probably damaging Het
Lama2 C T 10: 27,188,272 E1238K probably benign Het
Man1b1 A G 2: 25,338,227 K170E probably benign Het
Mcrs1 A T 15: 99,249,501 I39N probably damaging Het
Mug2 T C 6: 122,049,628 probably benign Het
Neu3 C A 7: 99,813,422 G365W probably damaging Het
Nipal3 A C 4: 135,471,883 probably null Het
Nrxn3 A G 12: 89,255,034 I528V possibly damaging Het
Olfr122 A T 17: 37,771,839 H71L possibly damaging Het
Osbpl8 A G 10: 111,267,747 K204R probably damaging Het
Pax8 A G 2: 24,435,919 S318P possibly damaging Het
Pcdh18 T A 3: 49,756,141 N242Y probably damaging Het
Pkd1l2 T A 8: 117,059,520 K649* probably null Het
Ppm1n A T 7: 19,279,254 D257E probably benign Het
Pxdn A G 12: 30,002,797 E811G probably damaging Het
Rreb1 T C 13: 37,931,034 C790R probably benign Het
Rtkn2 G T 10: 68,025,519 C258F possibly damaging Het
Scn11a G A 9: 119,784,161 probably benign Het
Snx8 G A 5: 140,358,096 R96C probably damaging Het
Syne2 A T 12: 76,060,226 T5649S possibly damaging Het
Tm2d3 T A 7: 65,695,222 C82* probably null Het
Tnpo2 T C 8: 85,040,526 L55P probably damaging Het
Tsc22d2 T C 3: 58,417,415 probably benign Het
Ttll3 T G 6: 113,394,729 V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 I86V probably benign Het
Vps13d G A 4: 145,088,322 T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 I753T probably damaging Het
Other mutations in Relb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Relb APN 7 19622924 critical splice donor site probably null
IGL00661:Relb APN 7 19616411 missense possibly damaging 0.92
IGL01340:Relb APN 7 19616373 missense probably benign 0.03
IGL01341:Relb APN 7 19616373 missense probably benign 0.03
IGL01576:Relb APN 7 19612601 missense probably benign 0.07
IGL01672:Relb APN 7 19611694 missense probably benign 0.44
IGL01953:Relb APN 7 19615557 critical splice donor site probably null
IGL02792:Relb APN 7 19613864 missense probably damaging 1.00
IGL03117:Relb APN 7 19612657 missense probably damaging 1.00
R0940:Relb UTSW 7 19611842 missense probably damaging 1.00
R2164:Relb UTSW 7 19613761 unclassified probably null
R3878:Relb UTSW 7 19617844 missense probably damaging 1.00
R4747:Relb UTSW 7 19627922 critical splice donor site probably null
R4795:Relb UTSW 7 19619839 missense probably damaging 1.00
R4996:Relb UTSW 7 19615603 missense probably benign 0.01
R5330:Relb UTSW 7 19606705 missense possibly damaging 0.69
R7252:Relb UTSW 7 19612613 nonsense probably null
X0023:Relb UTSW 7 19612667 missense probably benign 0.22
X0066:Relb UTSW 7 19619750 missense probably damaging 1.00
Posted On2015-04-16