Incidental Mutation 'IGL00661:Relb'
ID 13798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Relb
Ensembl Gene ENSMUSG00000002983
Gene Name avian reticuloendotheliosis viral (v-rel) oncogene related B
Synonyms shep
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # IGL00661
Quality Score
Status
Chromosome 7
Chromosomal Location 19340142-19363352 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19350336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 208 (V208A)
Ref Sequence ENSEMBL: ENSMUSP00000096350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049912] [ENSMUST00000094762] [ENSMUST00000098754] [ENSMUST00000141586] [ENSMUST00000208087] [ENSMUST00000153309]
AlphaFold Q04863
Predicted Effect possibly damaging
Transcript: ENSMUST00000049912
AA Change: V205A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050166
Gene: ENSMUSG00000002983
AA Change: V205A

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 possibly damaging
Transcript: ENSMUST00000094762
AA Change: V208A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092355
Gene: ENSMUSG00000002983
AA Change: V208A

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 possibly damaging
Transcript: ENSMUST00000098754
AA Change: V208A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096350
Gene: ENSMUSG00000002983
AA Change: V208A

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 probably benign
Transcript: ENSMUST00000208087
Predicted Effect probably benign
Transcript: ENSMUST00000153309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148040
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,430,263 (GRCm39) V242A possibly damaging Het
Antxr2 T C 5: 98,152,155 (GRCm39) D152G probably benign Het
Blmh A T 11: 76,856,758 (GRCm39) K118* probably null Het
Bnip3 G A 7: 138,499,801 (GRCm39) P62L probably damaging Het
Catsperb A T 12: 101,554,357 (GRCm39) T684S probably damaging Het
Chd3 C A 11: 69,248,209 (GRCm39) K894N possibly damaging Het
Chkb T A 15: 89,311,794 (GRCm39) R133S probably benign Het
Dennd5a T C 7: 109,507,579 (GRCm39) N803S probably benign Het
Dync2li1 A T 17: 84,956,668 (GRCm39) D276V possibly damaging Het
Erap1 T C 13: 74,822,908 (GRCm39) probably benign Het
Hgsnat C T 8: 26,462,965 (GRCm39) V70M probably benign Het
Leprot T C 4: 101,509,673 (GRCm39) probably null Het
Lhcgr G A 17: 89,057,546 (GRCm39) A315V probably benign Het
Lrrn4 C T 2: 132,712,588 (GRCm39) V412I probably benign Het
Macrod2 G A 2: 140,261,824 (GRCm39) probably null Het
Mmaa G A 8: 80,008,199 (GRCm39) R13C probably damaging Het
Plpp4 T A 7: 128,918,023 (GRCm39) I66N probably damaging Het
Prl4a1 T C 13: 28,205,359 (GRCm39) V108A probably benign Het
Prss1 G T 6: 41,439,553 (GRCm39) K95N possibly damaging Het
Rasa2 C T 9: 96,459,606 (GRCm39) probably benign Het
Sema3d T C 5: 12,555,806 (GRCm39) S178P probably damaging Het
Slc18a1 A T 8: 69,526,383 (GRCm39) W102R probably benign Het
Slc39a8 A C 3: 135,563,873 (GRCm39) K239N probably benign Het
Stap1 A G 5: 86,229,132 (GRCm39) H100R probably benign Het
Suz12 T A 11: 79,889,918 (GRCm39) V143E probably damaging Het
Tmf1 A G 6: 97,153,455 (GRCm39) V206A probably benign Het
Trim16 T A 11: 62,728,058 (GRCm39) probably benign Het
Ube2b C T 11: 51,891,119 (GRCm39) probably null Het
Vmn1r223 T C 13: 23,434,254 (GRCm39) S283P probably damaging Het
Wrn T A 8: 33,809,173 (GRCm39) probably benign Het
Other mutations in Relb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Relb APN 7 19,356,849 (GRCm39) critical splice donor site probably null
IGL01338:Relb APN 7 19,350,298 (GRCm39) missense probably benign 0.03
IGL01340:Relb APN 7 19,350,298 (GRCm39) missense probably benign 0.03
IGL01341:Relb APN 7 19,350,298 (GRCm39) missense probably benign 0.03
IGL01576:Relb APN 7 19,346,526 (GRCm39) missense probably benign 0.07
IGL01672:Relb APN 7 19,345,619 (GRCm39) missense probably benign 0.44
IGL01953:Relb APN 7 19,349,482 (GRCm39) critical splice donor site probably null
IGL02792:Relb APN 7 19,347,789 (GRCm39) missense probably damaging 1.00
IGL03117:Relb APN 7 19,346,582 (GRCm39) missense probably damaging 1.00
R0940:Relb UTSW 7 19,345,767 (GRCm39) missense probably damaging 1.00
R2164:Relb UTSW 7 19,347,686 (GRCm39) splice site probably null
R3878:Relb UTSW 7 19,351,769 (GRCm39) missense probably damaging 1.00
R4747:Relb UTSW 7 19,361,847 (GRCm39) critical splice donor site probably null
R4795:Relb UTSW 7 19,353,764 (GRCm39) missense probably damaging 1.00
R4996:Relb UTSW 7 19,349,528 (GRCm39) missense probably benign 0.01
R5330:Relb UTSW 7 19,340,630 (GRCm39) missense possibly damaging 0.69
R7252:Relb UTSW 7 19,346,538 (GRCm39) nonsense probably null
R7648:Relb UTSW 7 19,353,767 (GRCm39) missense possibly damaging 0.94
R8818:Relb UTSW 7 19,353,762 (GRCm39) missense probably damaging 1.00
R8836:Relb UTSW 7 19,345,799 (GRCm39) missense possibly damaging 0.80
R9148:Relb UTSW 7 19,350,276 (GRCm39) missense probably damaging 1.00
X0023:Relb UTSW 7 19,346,592 (GRCm39) missense probably benign 0.22
X0066:Relb UTSW 7 19,353,675 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06