Incidental Mutation 'IGL01672:Relb'
ID 103514
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 # IGL01672
Quality Score
Status
Chromosome 7
Chromosomal Location 19340142-19363352 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19345619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 406 (H406L)
Ref Sequence ENSEMBL: ENSMUSP00000096350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049912] [ENSMUST00000094762] [ENSMUST00000098754] [ENSMUST00000208087]
AlphaFold Q04863
Predicted Effect probably benign
Transcript: ENSMUST00000049912
AA Change: H403L

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000050166
Gene: ENSMUSG00000002983
AA Change: H403L

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: H406L

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000092355
Gene: ENSMUSG00000002983
AA Change: H406L

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: H406L

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096350
Gene: ENSMUSG00000002983
AA Change: H406L

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: ENSMUST00000208087
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,618,316 (GRCm39) E203G probably damaging Het
Ano1 G T 7: 144,209,412 (GRCm39) Q206K probably damaging Het
Ap4e1 T A 2: 126,894,109 (GRCm39) S620T probably damaging Het
Arfip1 A T 3: 84,455,339 (GRCm39) probably benign Het
Atp8a2 A T 14: 59,928,982 (GRCm39) M1024K probably benign Het
Brap T C 5: 121,816,908 (GRCm39) probably benign Het
Calcrl T A 2: 84,175,414 (GRCm39) T287S probably damaging Het
Clptm1l G A 13: 73,755,992 (GRCm39) probably null Het
Cpb1 T A 3: 20,329,585 (GRCm39) Q47L probably null Het
Cse1l T C 2: 166,771,887 (GRCm39) I402T probably damaging Het
Dnah17 A G 11: 117,932,986 (GRCm39) S3591P probably damaging Het
Dst T G 1: 34,264,774 (GRCm39) I2322S probably damaging Het
Dync2h1 G A 9: 7,118,884 (GRCm39) R2194* probably null Het
Ecpas A G 4: 58,814,041 (GRCm39) V1355A probably benign Het
Eno4 A G 19: 58,931,977 (GRCm39) N30S possibly damaging Het
Ero1a A C 14: 45,529,887 (GRCm39) S349A probably benign Het
Fat1 C T 8: 45,493,737 (GRCm39) T3938I probably benign Het
Focad T C 4: 88,278,827 (GRCm39) probably null Het
Gnai3 A T 3: 108,016,775 (GRCm39) I343N probably damaging Het
Golph3 T C 15: 12,349,643 (GRCm39) V221A probably benign Het
Gpr153 C A 4: 152,364,370 (GRCm39) S142* probably null Het
Itpr1 C A 6: 108,357,993 (GRCm39) Y557* probably null Het
Nat8f5 A G 6: 85,794,934 (GRCm39) Y9H probably damaging Het
Nbas T C 12: 13,429,650 (GRCm39) V1045A possibly damaging Het
Nol8 T C 13: 49,828,883 (GRCm39) V1047A possibly damaging Het
Or2t48 A C 11: 58,419,948 (GRCm39) L288R probably benign Het
Or5p1 T A 7: 107,916,725 (GRCm39) V208E probably benign Het
Osbpl1a G A 18: 12,899,881 (GRCm39) T178I probably damaging Het
Palld T A 8: 62,330,536 (GRCm39) I114F probably benign Het
Pcca A T 14: 122,927,557 (GRCm39) Y440F probably benign Het
Pclo T C 5: 14,728,549 (GRCm39) probably benign Het
Piwil1 T C 5: 128,827,037 (GRCm39) M599T possibly damaging Het
Pkd1l2 T A 8: 117,807,471 (GRCm39) Y189F possibly damaging Het
Plscr3 A G 11: 69,738,508 (GRCm39) K91R possibly damaging Het
Rars1 A T 11: 35,699,380 (GRCm39) C638S probably damaging Het
Ros1 G T 10: 51,977,899 (GRCm39) T1449K possibly damaging Het
Samd3 A T 10: 26,146,067 (GRCm39) N364I possibly damaging Het
Scn2a T A 2: 65,582,278 (GRCm39) I1542N probably damaging Het
Sdk1 T A 5: 142,170,930 (GRCm39) M1931K probably benign Het
Sphk2 T C 7: 45,361,077 (GRCm39) D309G possibly damaging Het
Stil T C 4: 114,889,986 (GRCm39) S825P probably damaging Het
Swt1 C T 1: 151,270,359 (GRCm39) probably null Het
Virma C T 4: 11,527,792 (GRCm39) R1228C probably damaging Het
Xirp2 T A 2: 67,338,846 (GRCm39) H362Q probably benign Het
Zfp451 C A 1: 33,801,247 (GRCm39) M1056I probably benign Het
Zfp458 T A 13: 67,405,300 (GRCm39) M380L 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
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 2014-01-21