Incidental Mutation 'IGL02374:Rell1'
ID 291038
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 # IGL02374
Quality Score
Status
Chromosome 5
Chromosomal Location 63908897-63968897 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63937808 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 105 (I105K)
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 possibly damaging
Transcript: ENSMUST00000154169
AA Change: I105K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118125
Gene: ENSMUSG00000047881
AA Change: I105K

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl5b T C 2: 15,068,192 Y35H probably damaging Het
Ccdc144b T C 3: 36,019,959 Q347R possibly damaging Het
Cnksr3 A G 10: 7,120,335 S300P probably damaging Het
Col27a1 T C 4: 63,293,249 S1013P possibly damaging Het
Cyp39a1 A G 17: 43,749,981 probably benign Het
Deptor G T 15: 55,180,961 L174F probably damaging Het
Fah T C 7: 84,605,701 E8G probably benign Het
Fastk C A 5: 24,444,249 A47S possibly damaging Het
Foxl2 C T 9: 98,955,832 L58F probably damaging Het
Igf2bp2 G T 16: 22,081,868 H106Q probably benign Het
Igkv12-47 T C 6: 69,750,975 T71A probably benign Het
Ino80d T C 1: 63,086,061 I81V possibly damaging Het
Ints9 G A 14: 65,039,333 E650K probably benign Het
Klc2 T C 19: 5,110,410 N408S possibly damaging Het
Klhl32 A T 4: 24,743,856 probably null Het
Ksr1 C T 11: 79,028,491 G504D probably benign Het
Lonp2 C A 8: 86,709,045 D636E probably damaging Het
Lpin3 G A 2: 160,895,838 probably benign Het
Mcmdc2 C T 1: 9,911,982 A56V possibly damaging Het
Olfr1208 A T 2: 88,897,459 I46N probably damaging Het
Olfr129 A T 17: 38,055,521 V24D probably damaging Het
Pex1 T C 5: 3,635,481 I1163T probably benign Het
Ppp1r3a C T 6: 14,718,600 V772I probably damaging Het
Ptbp2 A T 3: 119,720,693 probably benign Het
Sis A T 3: 72,925,456 S1003T probably benign Het
Slc26a3 T A 12: 31,470,833 probably benign Het
Stap1 G A 5: 86,096,551 G264R probably damaging Het
Tmem176b T C 6: 48,834,626 N30D possibly damaging Het
Tmprss15 A T 16: 79,035,168 Y367N probably benign Het
Ttc41 A G 10: 86,775,951 D1061G probably damaging Het
Ufl1 A C 4: 25,259,237 D460E probably benign Het
Vmn2r104 T C 17: 20,042,786 I138V probably benign Het
Wdfy2 T C 14: 62,934,384 S194P probably benign Het
Zfp408 A C 2: 91,645,811 C333G probably damaging Het
Zfp592 T C 7: 81,024,983 V565A probably damaging Het
Other mutations in Rell1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00806:Rell1 APN 5 63937814 missense probably damaging 1.00
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 2015-04-16