Incidental Mutation 'R1802:Relt'
ID 203212
Institutional Source Beutler Lab
Gene Symbol Relt
Ensembl Gene ENSMUSG00000008318
Gene Name RELT tumor necrosis factor receptor
Synonyms Tnfrsf19l, E430021K24Rik
MMRRC Submission 039832-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R1802 (G1)
Quality Score 211
Status Not validated
Chromosome 7
Chromosomal Location 100495054-100512653 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100499401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 173 (I173V)
Ref Sequence ENSEMBL: ENSMUSP00000008462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008462] [ENSMUST00000136231] [ENSMUST00000139604] [ENSMUST00000142885] [ENSMUST00000155413] [ENSMUST00000156855]
AlphaFold Q8BX43
Predicted Effect probably damaging
Transcript: ENSMUST00000008462
AA Change: I173V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000008462
Gene: ENSMUSG00000008318
AA Change: I173V

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
TNFR 58 97 2e-4 SMART
low complexity region 132 138 N/A INTRINSIC
Pfam:RELT 170 209 1.8e-21 PFAM
coiled coil region 233 255 N/A INTRINSIC
low complexity region 273 289 N/A INTRINSIC
low complexity region 313 336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136231
SMART Domains Protein: ENSMUSP00000121443
Gene: ENSMUSG00000008318

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
TNFR 58 97 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139604
SMART Domains Protein: ENSMUSP00000119208
Gene: ENSMUSG00000008318

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
TNFR 58 97 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142885
Predicted Effect probably benign
Transcript: ENSMUST00000155413
SMART Domains Protein: ENSMUSP00000118150
Gene: ENSMUSG00000008318

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
TNFR 58 97 2e-4 SMART
low complexity region 132 138 N/A INTRINSIC
Pfam:RELT 170 218 1.4e-20 PFAM
low complexity region 285 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156855
SMART Domains Protein: ENSMUSP00000120042
Gene: ENSMUSG00000008318

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
TNFR 58 97 2e-4 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 G T 15: 91,047,305 (GRCm39) R583S probably benign Het
Ago2 A T 15: 72,993,029 (GRCm39) F492Y probably damaging Het
Ano4 T A 10: 88,816,878 (GRCm39) D610V probably damaging Het
Atp6v0d2 A G 4: 19,922,366 (GRCm39) probably null Het
Atxn7 T G 14: 14,089,419 (GRCm38) S312A probably benign Het
Azgp1 A G 5: 137,983,493 (GRCm39) Y56C probably damaging Het
Bcan A G 3: 87,900,415 (GRCm39) V606A possibly damaging Het
Btnl9 T A 11: 49,066,617 (GRCm39) I335F probably benign Het
Ccdc63 T C 5: 122,267,940 (GRCm39) R9G probably damaging Het
Cdyl T A 13: 36,056,619 (GRCm39) L534* probably null Het
Celf2 T C 2: 6,554,744 (GRCm39) E445G probably damaging Het
Cfap97d1 T A 11: 101,879,302 (GRCm39) Y25N possibly damaging Het
Cimap3 T A 3: 105,921,866 (GRCm39) Q19L possibly damaging Het
Cnot8 T C 11: 58,008,361 (GRCm39) C276R probably benign Het
Dock4 A G 12: 40,844,597 (GRCm39) I1135V possibly damaging Het
Edc3 A G 9: 57,634,598 (GRCm39) D205G probably damaging Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Fancl T G 11: 26,409,709 (GRCm39) S188R probably benign Het
Fbn2 T A 18: 58,186,048 (GRCm39) K1767* probably null Het
Glrb A T 3: 80,769,264 (GRCm39) H154Q probably damaging Het
Gm19965 C T 1: 116,748,633 (GRCm39) R105* probably null Het
Grhpr C A 4: 44,988,950 (GRCm39) Y202* probably null Het
Herc2 A G 7: 55,834,080 (GRCm39) E3095G probably damaging Het
Il22ra2 A T 10: 19,502,447 (GRCm39) N89Y probably damaging Het
Itgb6 T C 2: 60,483,625 (GRCm39) D261G probably benign Het
Jmjd7 C T 2: 119,860,589 (GRCm39) L39F probably damaging Het
Kif1a T A 1: 92,993,871 (GRCm39) I360F probably damaging Het
Kmt2d T C 15: 98,760,866 (GRCm39) Q828R unknown Het
Marchf10 C A 11: 105,280,741 (GRCm39) A515S probably benign Het
Mios T A 6: 8,216,385 (GRCm39) Y436* probably null Het
Mprip C T 11: 59,645,867 (GRCm39) L684F probably damaging Het
Mybpc2 T A 7: 44,161,894 (GRCm39) N519Y possibly damaging Het
Naga C T 15: 82,221,669 (GRCm39) R24Q probably benign Het
Nr2c1 G A 10: 93,999,648 (GRCm39) V103M possibly damaging Het
Oca2 A G 7: 55,904,728 (GRCm39) S65G possibly damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or52ab7 A G 7: 102,977,854 (GRCm39) I54V probably benign Het
Phyhipl A T 10: 70,434,855 (GRCm39) I28N probably benign Het
Pik3cb C A 9: 98,983,342 (GRCm39) E89* probably null Het
Plekhm2 A T 4: 141,361,658 (GRCm39) S262T probably benign Het
Ppm1a T A 12: 72,840,481 (GRCm39) probably null Het
Rfx7 T A 9: 72,526,919 (GRCm39) S1370T possibly damaging Het
Rps7 G A 12: 28,684,258 (GRCm39) R81C probably benign Het
Saa3 T C 7: 46,361,550 (GRCm39) *123W probably null Het
Serpina3b C A 12: 104,104,896 (GRCm39) H357Q probably damaging Het
Slc9c1 T A 16: 45,378,644 (GRCm39) N493K probably benign Het
Spata31 T C 13: 65,070,197 (GRCm39) Y782H probably benign Het
Tfap2a T C 13: 40,878,646 (GRCm39) D166G probably damaging Het
Thada A T 17: 84,771,835 (GRCm39) M9K probably benign Het
Tmem269 A T 4: 119,068,070 (GRCm39) probably null Het
Tnxb C A 17: 34,922,863 (GRCm39) P2482Q probably damaging Het
Vit T C 17: 78,912,940 (GRCm39) V291A possibly damaging Het
Zfp930 G T 8: 69,679,046 (GRCm39) A18S possibly damaging Het
Zup1 A T 10: 33,819,714 (GRCm39) V200D probably damaging Het
Other mutations in Relt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Relt APN 7 100,500,905 (GRCm39) missense probably damaging 1.00
IGL01958:Relt APN 7 100,500,350 (GRCm39) missense probably benign 0.16
ANU22:Relt UTSW 7 100,500,905 (GRCm39) missense probably damaging 1.00
P4717OSA:Relt UTSW 7 100,496,788 (GRCm39) missense probably damaging 1.00
R0026:Relt UTSW 7 100,499,428 (GRCm39) nonsense probably null
R0384:Relt UTSW 7 100,496,712 (GRCm39) missense probably benign 0.26
R0437:Relt UTSW 7 100,497,991 (GRCm39) unclassified probably benign
R0626:Relt UTSW 7 100,498,023 (GRCm39) missense probably damaging 1.00
R1582:Relt UTSW 7 100,500,560 (GRCm39) critical splice donor site probably null
R5977:Relt UTSW 7 100,512,355 (GRCm39) intron probably benign
R6924:Relt UTSW 7 100,496,468 (GRCm39) missense probably damaging 1.00
R6994:Relt UTSW 7 100,502,321 (GRCm39) splice site probably benign
R7403:Relt UTSW 7 100,500,655 (GRCm39) missense probably damaging 1.00
R8551:Relt UTSW 7 100,512,409 (GRCm39) intron probably benign
R8829:Relt UTSW 7 100,499,479 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AAGCCTAGTCTCCCCATGTC -3'
(R):5'- CCACCATCTTGTCTGTGGTG -3'

Sequencing Primer
(F):5'- TAGTCTCCCCATGTCGACCCAG -3'
(R):5'- ACCAGCCCAGCAACTTCTTTATG -3'
Posted On 2014-06-23