Incidental Mutation 'R0626:Relt'
ID 57495
Institutional Source Beutler Lab
Gene Symbol Relt
Ensembl Gene ENSMUSG00000008318
Gene Name RELT tumor necrosis factor receptor
Synonyms Tnfrsf19l, E430021K24Rik
MMRRC Submission 038815-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R0626 (G1)
Quality Score 165
Status Not validated
Chromosome 7
Chromosomal Location 100495054-100512653 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100498023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 237 (L237Q)
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: L237Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008462
Gene: ENSMUSG00000008318
AA Change: L237Q

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: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.2%
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: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,679,547 (GRCm39) probably benign Het
6430571L13Rik T A 9: 107,219,707 (GRCm39) D53E possibly damaging Het
A2ml1 T A 6: 128,527,736 (GRCm39) N1018I probably damaging Het
Abi3 C A 11: 95,727,937 (GRCm39) A85S probably benign Het
Acsl5 A T 19: 55,272,904 (GRCm39) M340L probably benign Het
Adam29 T A 8: 56,324,612 (GRCm39) H614L probably benign Het
Adgrg6 A T 10: 14,312,628 (GRCm39) S720T probably damaging Het
Adrb2 G T 18: 62,312,441 (GRCm39) A128E probably damaging Het
Afap1l1 T C 18: 61,872,291 (GRCm39) E510G probably benign Het
Angel1 A G 12: 86,764,487 (GRCm39) probably null Het
Aox3 T G 1: 58,211,458 (GRCm39) I1005S possibly damaging Het
Apc C A 18: 34,451,507 (GRCm39) P2767Q probably damaging Het
Apob T G 12: 8,066,193 (GRCm39) D4387E probably benign Het
Apobr T C 7: 126,185,827 (GRCm39) V446A possibly damaging Het
Arhgap28 A T 17: 68,203,108 (GRCm39) probably null Het
Aspm G T 1: 139,419,339 (GRCm39) K3001N probably damaging Het
Asxl3 G T 18: 22,655,937 (GRCm39) V1316F probably benign Het
Atp2a1 T A 7: 126,046,162 (GRCm39) probably null Het
Bach1 A G 16: 87,526,359 (GRCm39) D607G possibly damaging Het
Batf3 A G 1: 190,832,935 (GRCm39) D27G probably damaging Het
Baz1a G T 12: 55,022,055 (GRCm39) Q76K probably damaging Het
Bdnf G A 2: 109,553,883 (GRCm39) V86M probably benign Het
Birc7 A G 2: 180,573,098 (GRCm39) I172V probably benign Het
Bod1l A C 5: 41,988,880 (GRCm39) V409G probably damaging Het
Cacna1e T A 1: 154,364,563 (GRCm39) E337V probably damaging Het
Cacna1h A G 17: 25,612,520 (GRCm39) F287L possibly damaging Het
Ces1e A G 8: 93,950,671 (GRCm39) Y37H probably benign Het
Clasrp A T 7: 19,318,418 (GRCm39) probably benign Het
Clec2d T A 6: 129,160,090 (GRCm39) S35T probably damaging Het
Cntn4 T A 6: 106,639,539 (GRCm39) D556E probably benign Het
Cntnap5c A T 17: 58,349,422 (GRCm39) D245V probably benign Het
Col5a1 T A 2: 27,818,255 (GRCm39) L160* probably null Het
Col6a6 T C 9: 105,654,943 (GRCm39) E926G probably benign Het
Cpsf2 T A 12: 101,951,490 (GRCm39) H142Q probably benign Het
Cr2 A C 1: 194,853,419 (GRCm39) S20A possibly damaging Het
Ct45a G A X: 55,590,399 (GRCm39) P134L probably benign Het
Cyp2j5 A T 4: 96,547,749 (GRCm39) H164Q probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dmbt1 G A 7: 130,703,811 (GRCm39) V1124M probably damaging Het
Dmxl2 T C 9: 54,323,838 (GRCm39) H1182R probably damaging Het
Dnah2 A T 11: 69,368,509 (GRCm39) S1709T probably benign Het
Dop1b T C 16: 93,560,844 (GRCm39) V776A probably damaging Het
Emc3 T C 6: 113,492,992 (GRCm39) T220A probably benign Het
Entpd1 A C 19: 40,715,769 (GRCm39) N312T probably benign Het
Fam8a1 A T 13: 46,824,699 (GRCm39) I229F probably damaging Het
Fancc G A 13: 63,465,205 (GRCm39) P501S probably damaging Het
Fasn T C 11: 120,702,751 (GRCm39) R1704G probably damaging Het
Fsip2 A G 2: 82,819,302 (GRCm39) I5012V probably benign Het
Glce T C 9: 61,968,282 (GRCm39) T290A probably benign Het
Gns G A 10: 121,219,349 (GRCm39) probably null Het
Gsdma2 A G 11: 98,542,810 (GRCm39) N190S probably damaging Het
Hectd4 T A 5: 121,415,887 (GRCm39) S563T probably benign Het
Hmcn1 T C 1: 150,674,470 (GRCm39) probably null Het
Jup A T 11: 100,267,589 (GRCm39) M578K probably benign Het
Kir3dl1 G A X: 135,434,594 (GRCm39) probably null Het
Krt75 A G 15: 101,482,025 (GRCm39) F81S probably benign Het
Lrp1 G T 10: 127,403,233 (GRCm39) D2113E probably damaging Het
Maged2 T A X: 149,594,830 (GRCm39) N176Y probably damaging Het
Mrc1 T A 2: 14,333,382 (GRCm39) C1354* probably null Het
Mup7 A C 4: 60,069,742 (GRCm39) V74G possibly damaging Het
Naca A G 10: 127,877,031 (GRCm39) probably benign Het
Nav3 T G 10: 109,659,325 (GRCm39) Y764S probably damaging Het
Nkpd1 A T 7: 19,257,099 (GRCm39) T293S probably benign Het
Numb A G 12: 83,842,614 (GRCm39) Y510H probably damaging Het
Nynrin T G 14: 56,105,492 (GRCm39) L834R probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2ak5 G T 11: 58,611,347 (GRCm39) H176N probably benign Het
Or8g18 T A 9: 39,149,162 (GRCm39) N186I possibly damaging Het
Otog T C 7: 45,920,797 (GRCm39) V1000A possibly damaging Het
Pafah1b3 A G 7: 24,996,554 (GRCm39) V43A possibly damaging Het
Pcnx1 A G 12: 82,030,450 (GRCm39) Y1775C possibly damaging Het
Phka1 G A X: 101,564,437 (GRCm39) R1074C probably damaging Het
Pi4ka T A 16: 17,111,765 (GRCm39) Y1570F probably benign Het
Piezo2 T C 18: 63,152,329 (GRCm39) K2588E probably damaging Het
Pkd1 A G 17: 24,794,549 (GRCm39) T2079A probably damaging Het
Plekhd1 G T 12: 80,764,075 (GRCm39) Q212H probably damaging Het
Plekhh1 C T 12: 79,087,359 (GRCm39) R16* probably null Het
Polm C A 11: 5,786,207 (GRCm39) R120L probably damaging Het
Ptpn22 T C 3: 103,767,721 (GRCm39) M1T probably null Het
Ptprh G A 7: 4,567,271 (GRCm39) L534F probably benign Het
Rabl6 C T 2: 25,482,778 (GRCm39) probably null Het
Rap2a A G 14: 120,716,403 (GRCm39) S89G probably damaging Het
Rara A T 11: 98,862,406 (GRCm39) probably null Het
Reck A G 4: 43,930,295 (GRCm39) D623G probably benign Het
Rngtt A G 4: 33,329,598 (GRCm39) probably null Het
Rtn4rl2 T G 2: 84,710,763 (GRCm39) Y167S probably damaging Het
Sec24c C T 14: 20,738,505 (GRCm39) R353C probably damaging Het
Slc35g2 T C 9: 100,435,495 (GRCm39) S59G probably benign Het
Smarcd2 A T 11: 106,158,241 (GRCm39) M107K probably benign Het
Smg1 T C 7: 117,781,606 (GRCm39) N1227S possibly damaging Het
Snrnp200 A G 2: 127,063,734 (GRCm39) N638D possibly damaging Het
Sntb1 A G 15: 55,506,179 (GRCm39) S465P probably benign Het
Sp4 A G 12: 118,263,314 (GRCm39) L244P probably damaging Het
Sulf1 A G 1: 12,887,716 (GRCm39) probably null Het
Tbc1d17 T C 7: 44,492,509 (GRCm39) T385A probably benign Het
Tbx10 C A 19: 4,047,873 (GRCm39) D206E probably benign Het
Tcea2 C T 2: 181,329,431 (GRCm39) P275S probably damaging Het
Tns3 C A 11: 8,443,121 (GRCm39) R414L probably benign Het
Trip11 T C 12: 101,852,235 (GRCm39) R610G possibly damaging Het
Ugt2b1 T C 5: 87,073,720 (GRCm39) K213R probably null Het
Unc80 A G 1: 66,647,601 (GRCm39) S1514G probably benign Het
Usp7 G T 16: 8,511,778 (GRCm39) Q867K possibly damaging Het
Vim T C 2: 13,579,463 (GRCm39) V74A probably benign Het
Vmn1r234 A G 17: 21,450,007 (GRCm39) Y307C probably benign Het
Vmn2r74 A T 7: 85,610,517 (GRCm39) Y58* probably null Het
Wdr36 C A 18: 32,983,584 (GRCm39) A445E probably damaging Het
Xpo5 T A 17: 46,532,359 (GRCm39) W465R probably damaging Het
Zscan4d T A 7: 10,898,946 (GRCm39) R110S 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
R1582:Relt UTSW 7 100,500,560 (GRCm39) critical splice donor site probably null
R1802:Relt UTSW 7 100,499,401 (GRCm39) missense probably damaging 0.98
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'- AAAATGCAGCACCCAGGGTCAG -3'
(R):5'- GGCCAAGAAAGGTCCAGTGACTATC -3'

Sequencing Primer
(F):5'- GAGCCCCCATCAAACTGAGG -3'
(R):5'- TAGCCCACTGGTAATGGACTTAG -3'
Posted On 2013-07-11