Incidental Mutation 'IGL02697:Rell1'
ID 303959
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 # IGL02697
Quality Score
Status
Chromosome 5
Chromosomal Location 63908897-63968897 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63927011 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 221 (V221I)
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 noncoding transcript
Transcript: ENSMUST00000128967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153089
Predicted Effect probably damaging
Transcript: ENSMUST00000154169
AA Change: V221I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118125
Gene: ENSMUSG00000047881
AA Change: V221I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154532
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 A T 4: 47,471,772 N345K probably damaging Het
Atp13a5 T A 16: 29,348,532 H151L probably benign Het
C2cd3 T C 7: 100,427,169 probably benign Het
Cep57l1 G T 10: 41,722,954 P212T possibly damaging Het
Coch G A 12: 51,597,038 A135T probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cul5 A G 9: 53,655,331 S134P probably benign Het
Cyp4f14 T C 17: 32,905,623 T485A probably damaging Het
Dennd3 T C 15: 73,524,236 F198S possibly damaging Het
Dennd5a C A 7: 109,894,781 A1239S probably damaging Het
Dhx8 T C 11: 101,754,781 I822T probably damaging Het
Dnah5 A T 15: 28,445,143 M4142L probably benign Het
Dyrk4 T A 6: 126,899,008 N88I possibly damaging Het
Emc1 T C 4: 139,352,644 F9L probably benign Het
Gga1 A G 15: 78,885,346 E173G probably damaging Het
H1fnt T C 15: 98,257,169 K33R probably benign Het
Hepacam2 A T 6: 3,476,036 H296Q possibly damaging Het
Ipo9 G T 1: 135,390,576 Q699K probably benign Het
Jmy A T 13: 93,459,701 Y473* probably null Het
Kdm5b A T 1: 134,588,773 probably benign Het
Kit A G 5: 75,607,259 S101G probably benign Het
Krtap4-9 T A 11: 99,785,748 V165E unknown Het
Lnpep T A 17: 17,553,193 M639L probably benign Het
Lrp10 C T 14: 54,469,697 P664S probably damaging Het
Nrde2 A T 12: 100,131,207 L778H probably damaging Het
Oat A T 7: 132,569,955 probably null Het
Pfkl A T 10: 77,999,918 S219T probably benign Het
Phtf1 C T 3: 103,997,563 A509V probably benign Het
Pigz T A 16: 31,944,759 probably null Het
Pltp T A 2: 164,840,526 Y344F probably benign Het
Ppp6r2 A G 15: 89,256,755 Y107C probably benign Het
Ptprk A G 10: 28,575,618 D1034G possibly damaging Het
Skint5 A G 4: 113,479,713 F1429S probably benign Het
Slc22a28 T A 19: 8,117,127 T177S probably benign Het
Stxbp5 G T 10: 9,762,956 S1033* probably null Het
Tgs1 A G 4: 3,585,564 D147G probably benign Het
Thumpd3 T A 6: 113,067,295 N423K probably benign Het
Tns3 G T 11: 8,492,346 D672E probably benign Het
Vmn2r61 T A 7: 42,275,468 V482E possibly damaging Het
Vmn2r72 G T 7: 85,738,671 Q562K probably benign Het
Zan T C 5: 137,400,548 T4185A unknown Het
Other mutations in Rell1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00806:Rell1 APN 5 63937814 missense probably damaging 1.00
IGL02374:Rell1 APN 5 63937808 missense possibly damaging 0.94
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 2015-04-16