Incidental Mutation 'IGL02792:Relb'
ID 359768
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 # IGL02792
Quality Score
Status
Chromosome 7
Chromosomal Location 19340142-19363352 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19347789 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q04863
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: 48,401,107 (GRCm39) V131M probably benign Het
Abca6 A T 11: 110,079,507 (GRCm39) C1216S probably damaging Het
Acly T C 11: 100,369,236 (GRCm39) K1018E probably damaging Het
Acsl5 G A 19: 55,282,163 (GRCm39) probably null Het
Adgrb1 C A 15: 74,419,471 (GRCm39) L771I probably damaging Het
Adh7 A T 3: 137,929,498 (GRCm39) K89I probably damaging Het
Adora2b A T 11: 62,156,309 (GRCm39) I253F possibly damaging Het
Akna G A 4: 63,295,943 (GRCm39) P975S possibly damaging Het
Alg9 T C 9: 50,754,048 (GRCm39) L576P possibly damaging Het
Arhgap20 A G 9: 51,761,218 (GRCm39) E1023G possibly damaging Het
Astn2 A T 4: 65,563,058 (GRCm39) S908T probably benign Het
Atp1a4 C T 1: 172,054,866 (GRCm39) probably null Het
Cabin1 T C 10: 75,582,573 (GRCm39) Y281C probably damaging Het
Cdc42bpb G T 12: 111,265,995 (GRCm39) F1312L probably benign Het
Cfap65 A C 1: 74,966,337 (GRCm39) F330C probably damaging Het
Col27a1 C T 4: 63,233,820 (GRCm39) P689S unknown Het
Col4a3 A T 1: 82,696,524 (GRCm39) K1643N probably damaging Het
Dop1b T A 16: 93,598,460 (GRCm39) V1875D possibly damaging Het
Eftud2 A G 11: 102,761,082 (GRCm39) probably benign Het
Ergic3 C A 2: 155,859,770 (GRCm39) T357K probably damaging Het
Glra1 A T 11: 55,427,226 (GRCm39) D36E probably damaging Het
Gpatch1 A G 7: 35,001,018 (GRCm39) Y330H probably damaging Het
Hmcn2 T C 2: 31,236,602 (GRCm39) S382P probably damaging Het
Kat6a G A 8: 23,428,316 (GRCm39) E1224K probably damaging Het
Klk13 A G 7: 43,370,838 (GRCm39) E29G possibly damaging Het
Klra9 T C 6: 130,165,643 (GRCm39) D124G probably benign Het
Lrmda T C 14: 22,069,978 (GRCm39) probably null Het
Ltbp1 G A 17: 75,589,989 (GRCm39) V539M probably damaging Het
Ngfr A C 11: 95,462,687 (GRCm39) L317R probably damaging Het
Nlrp6 C A 7: 140,502,348 (GRCm39) H151Q probably damaging Het
Nnt A G 13: 119,494,182 (GRCm39) L633P probably damaging Het
Nxpe3 C T 16: 55,686,535 (GRCm39) V158M probably damaging Het
Or11i1 T C 3: 106,729,456 (GRCm39) T140A probably damaging Het
Or2d36 T C 7: 106,747,425 (GRCm39) F301L probably benign Het
Or7g16 C T 9: 18,727,254 (GRCm39) S112N probably benign Het
Pla2g4f T C 2: 120,133,850 (GRCm39) Y517C probably damaging Het
Poc1a A T 9: 106,172,393 (GRCm39) I207F possibly damaging Het
Polr2a A G 11: 69,636,938 (GRCm39) S338P probably damaging Het
Ptprz1 T C 6: 22,959,722 (GRCm39) V73A probably damaging Het
Rrp8 A T 7: 105,383,018 (GRCm39) L382* probably null Het
Setd1a C T 7: 127,390,522 (GRCm39) S523F unknown Het
Slamf8 A G 1: 172,415,697 (GRCm39) I47T probably damaging Het
Slc16a4 G A 3: 107,206,193 (GRCm39) A88T probably benign Het
Sox6 C T 7: 115,140,884 (GRCm39) M532I probably benign Het
Tcp11l1 T A 2: 104,512,165 (GRCm39) Y489F probably benign Het
Tdrd6 T G 17: 43,935,918 (GRCm39) D1710A probably benign Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Vangl1 A T 3: 102,070,739 (GRCm39) I399N probably damaging Het
Vmn1r201 T C 13: 22,659,014 (GRCm39) L76P probably damaging Het
Vmn1r58 T C 7: 5,414,228 (GRCm39) M1V probably null Het
Wdfy4 T C 14: 32,817,262 (GRCm39) I1561V probably benign Het
Xkr9 A G 1: 13,771,027 (GRCm39) D181G probably damaging Het
Zfp318 T C 17: 46,720,104 (GRCm39) F1101L probably damaging Het
Zfpm2 C A 15: 40,966,409 (GRCm39) Q833K probably benign Het
Other mutations in Relb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Relb APN 7 19,356,849 (GRCm39) critical splice donor site probably null
IGL00661:Relb APN 7 19,350,336 (GRCm39) missense possibly damaging 0.92
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
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 2015-12-18