Incidental Mutation 'IGL00806:Rell1'
ID 13799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rell1
Ensembl Gene ENSMUSG00000047881
Gene Name RELT-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL00806
Quality Score
Status
Chromosome 5
Chromosomal Location 63908897-63968897 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63937814 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 103 (E103G)
Ref Sequence ENSEMBL: ENSMUSP00000118125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087327] [ENSMUST00000154169]
AlphaFold Q8K2J7
Predicted Effect probably benign
Transcript: ENSMUST00000087327
SMART Domains Protein: ENSMUSP00000084585
Gene: ENSMUSG00000047881

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000154169
AA Change: E103G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118125
Gene: ENSMUSG00000047881
AA Change: E103G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:RELT 59 103 1.2e-26 PFAM
low complexity region 149 168 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b A C 8: 43,521,342 Y208D probably damaging Het
Birc6 T A 17: 74,611,529 V18D possibly damaging Het
Copb2 T C 9: 98,570,664 C104R probably damaging Het
Eif2ak4 A G 2: 118,441,166 E76G probably benign Het
Flrt2 T C 12: 95,780,529 I547T probably damaging Het
Golga1 A T 2: 39,052,973 L95* probably null Het
Itga8 G A 2: 12,255,966 Q224* probably null Het
Kcnt2 T C 1: 140,523,211 Y693H probably damaging Het
Kctd4 A T 14: 75,963,008 T140S probably benign Het
Lpl T C 8: 68,902,366 S469P probably benign Het
Naf1 A G 8: 66,885,800 Q406R probably damaging Het
Pdgfd A G 9: 6,288,667 D107G probably benign Het
Rrm2b C T 15: 37,931,622 D45N probably benign Het
Setx A G 2: 29,127,026 Y47C probably damaging Het
Snx1 A T 9: 66,089,585 Y462* probably null Het
Tek A T 4: 94,798,719 N158I probably damaging Het
Other mutations in Rell1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02374:Rell1 APN 5 63937808 missense possibly damaging 0.94
IGL02697:Rell1 APN 5 63927011 missense probably damaging 0.96
R0648:Rell1 UTSW 5 63924745 missense probably benign 0.05
R1471:Rell1 UTSW 5 63936085 missense probably damaging 1.00
R3177:Rell1 UTSW 5 63926987 critical splice donor site probably null
R3277:Rell1 UTSW 5 63926987 critical splice donor site probably null
R4095:Rell1 UTSW 5 63968670 missense probably benign
R4921:Rell1 UTSW 5 63936033 missense probably damaging 1.00
R4952:Rell1 UTSW 5 63939667 intron probably benign
R6294:Rell1 UTSW 5 63939705 intron probably benign
R6692:Rell1 UTSW 5 63937867 missense probably damaging 1.00
R7297:Rell1 UTSW 5 63936075 missense possibly damaging 0.86
R8078:Rell1 UTSW 5 63939721 intron probably benign
R8385:Rell1 UTSW 5 63930518 nonsense probably null
X0028:Rell1 UTSW 5 63936095 critical splice acceptor site probably null
Posted On 2012-12-06