Incidental Mutation 'IGL02792:Relb'
ID359768
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: 0.951) question?
Stock #IGL02792
Quality Score
Status
Chromosome7
Chromosomal Location19606217-19629438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 19613864 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 281 (L281Q)
Ref Sequence ENSEMBL: ENSMUSP00000096350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049912] [ENSMUST00000094762] [ENSMUST00000098754] [ENSMUST00000141586] [ENSMUST00000153309] [ENSMUST00000208087]
Predicted Effect probably damaging
Transcript: ENSMUST00000049912
AA Change: L278Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050166
Gene: ENSMUSG00000002983
AA Change: L278Q

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 damaging
Transcript: ENSMUST00000094762
AA Change: L281Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092355
Gene: ENSMUSG00000002983
AA Change: L281Q

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 damaging
Transcript: ENSMUST00000098754
AA Change: L281Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096350
Gene: ENSMUSG00000002983
AA Change: L281Q

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G A 17: 48,090,587 V131M probably benign Het
Abca6 A T 11: 110,188,681 C1216S probably damaging Het
Acly T C 11: 100,478,410 K1018E probably damaging Het
Acsl5 G A 19: 55,293,731 probably null Het
Adgrb1 C A 15: 74,547,622 L771I probably damaging Het
Adh7 A T 3: 138,223,737 K89I probably damaging Het
Adora2b A T 11: 62,265,483 I253F possibly damaging Het
Akna G A 4: 63,377,706 P975S possibly damaging Het
Alg9 T C 9: 50,842,748 L576P possibly damaging Het
Arhgap20 A G 9: 51,849,918 E1023G possibly damaging Het
Astn2 A T 4: 65,644,821 S908T probably benign Het
Atp1a4 C T 1: 172,227,299 probably null Het
Cabin1 T C 10: 75,746,739 Y281C probably damaging Het
Cdc42bpb G T 12: 111,299,561 F1312L probably benign Het
Cfap65 A C 1: 74,927,178 F330C probably damaging Het
Col27a1 C T 4: 63,315,583 P689S unknown Het
Col4a3 A T 1: 82,718,803 K1643N probably damaging Het
Dopey2 T A 16: 93,801,572 V1875D possibly damaging Het
Eftud2 A G 11: 102,870,256 probably benign Het
Ergic3 C A 2: 156,017,850 T357K probably damaging Het
Glra1 A T 11: 55,536,400 D36E probably damaging Het
Gpatch1 A G 7: 35,301,593 Y330H probably damaging Het
Hmcn2 T C 2: 31,346,590 S382P probably damaging Het
Kat6a G A 8: 22,938,300 E1224K probably damaging Het
Klk13 A G 7: 43,721,414 E29G possibly damaging Het
Klra9 T C 6: 130,188,680 D124G probably benign Het
Lrmda T C 14: 22,019,910 probably null Het
Ltbp1 G A 17: 75,282,994 V539M probably damaging Het
Ngfr A C 11: 95,571,861 L317R probably damaging Het
Nlrp6 C A 7: 140,922,435 H151Q probably damaging Het
Nnt A G 13: 119,357,646 L633P probably damaging Het
Nxpe3 C T 16: 55,866,172 V158M probably damaging Het
Olfr266 T C 3: 106,822,140 T140A probably damaging Het
Olfr716 T C 7: 107,148,218 F301L probably benign Het
Olfr828 C T 9: 18,815,958 S112N probably benign Het
Pla2g4f T C 2: 120,303,369 Y517C probably damaging Het
Poc1a A T 9: 106,295,194 I207F possibly damaging Het
Polr2a A G 11: 69,746,112 S338P probably damaging Het
Ptprz1 T C 6: 22,959,723 V73A probably damaging Het
Rrp8 A T 7: 105,733,811 L382* probably null Het
Setd1a C T 7: 127,791,350 S523F unknown Het
Slamf8 A G 1: 172,588,130 I47T probably damaging Het
Slc16a4 G A 3: 107,298,877 A88T probably benign Het
Sox6 C T 7: 115,541,649 M532I probably benign Het
Tcp11l1 T A 2: 104,681,820 Y489F probably benign Het
Tdrd6 T G 17: 43,625,027 D1710A probably benign Het
Trim58 C T 11: 58,640,466 probably benign Het
Vangl1 A T 3: 102,163,423 I399N probably damaging Het
Vmn1r201 T C 13: 22,474,844 L76P probably damaging Het
Vmn1r58 T C 7: 5,411,229 M1V probably null Het
Wdfy4 T C 14: 33,095,305 I1561V probably benign Het
Xkr9 A G 1: 13,700,803 D181G probably damaging Het
Zfp318 T C 17: 46,409,178 F1101L probably damaging Het
Zfpm2 C A 15: 41,103,013 Q833K probably benign 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
IGL01338:Relb APN 7 19616373 missense probably benign 0.03
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
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
R7648:Relb UTSW 7 19619842 missense possibly damaging 0.94
X0023:Relb UTSW 7 19612667 missense probably benign 0.22
X0066:Relb UTSW 7 19619750 missense probably damaging 1.00
Posted On2015-12-18