Incidental Mutation 'IGL01323:Tnfrsf22'
ID74111
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf22
Ensembl Gene ENSMUSG00000010751
Gene Nametumor necrosis factor receptor superfamily, member 22
SynonymsTnfrh2, mDcTrailr2, 2810028K06Rik, SOBa, C130035G06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL01323
Quality Score
Status
Chromosome7
Chromosomal Location143634806-143649661 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 143643374 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 76 (P76L)
Ref Sequence ENSEMBL: ENSMUSP00000119297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075588] [ENSMUST00000084396] [ENSMUST00000146692]
Predicted Effect probably damaging
Transcript: ENSMUST00000075588
AA Change: P76L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075018
Gene: ENSMUSG00000010751
AA Change: P76L

DomainStartEndE-ValueType
transmembrane domain 15 34 N/A INTRINSIC
TNFR 48 82 9.53e-2 SMART
TNFR 85 124 3.31e-10 SMART
TNFR 126 165 6.48e-4 SMART
transmembrane domain 177 196 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000084396
AA Change: P76L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081432
Gene: ENSMUSG00000010751
AA Change: P76L

DomainStartEndE-ValueType
transmembrane domain 15 34 N/A INTRINSIC
TNFR 48 82 9.53e-2 SMART
TNFR 85 124 3.31e-10 SMART
TNFR 126 165 6.48e-4 SMART
low complexity region 166 177 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000146692
AA Change: P76L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119297
Gene: ENSMUSG00000010751
AA Change: P76L

DomainStartEndE-ValueType
transmembrane domain 15 34 N/A INTRINSIC
TNFR 48 82 9.53e-2 SMART
TNFR 85 124 3.31e-10 SMART
TNFR 126 165 6.48e-4 SMART
low complexity region 166 177 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207189
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,871,495 D1272G probably damaging Het
Ascl2 A G 7: 142,968,388 S108P probably benign Het
B3gat1 T C 9: 26,755,910 V146A possibly damaging Het
Barhl1 C T 2: 28,915,546 S45N probably benign Het
Birc6 C T 17: 74,622,925 A2370V probably damaging Het
C1qtnf7 A G 5: 43,609,260 D67G possibly damaging Het
Cand2 A G 6: 115,785,125 T171A probably benign Het
Ccdc77 T C 6: 120,334,796 Q247R probably benign Het
Cenpp A T 13: 49,647,642 V100D probably damaging Het
Cep135 A G 5: 76,591,765 T3A probably benign Het
Eef2k T C 7: 120,884,815 probably benign Het
Fga T C 3: 83,030,211 S132P probably damaging Het
Gm4070 A G 7: 105,896,802 S2348P possibly damaging Het
Gpr6 T A 10: 41,071,559 N9I possibly damaging Het
Hacd3 A G 9: 64,998,305 F184L probably damaging Het
Heatr1 T C 13: 12,398,938 I132T possibly damaging Het
Igfbp7 A G 5: 77,352,037 probably benign Het
Ighv8-6 T C 12: 115,165,857 D93G possibly damaging Het
Izumo3 A G 4: 92,146,390 probably benign Het
Jade2 T C 11: 51,825,338 T347A possibly damaging Het
Kif18a A G 2: 109,298,442 T419A probably benign Het
Krt34 A G 11: 100,038,780 S267P possibly damaging Het
Krt4 T G 15: 101,920,281 K383Q probably damaging Het
Lgals7 G T 7: 28,865,564 E42D probably benign Het
Morc2b A G 17: 33,137,319 V493A possibly damaging Het
Mtif2 T A 11: 29,541,447 S557R probably damaging Het
Nup43 T A 10: 7,669,556 F83I probably benign Het
Olfr107 G T 17: 37,406,140 M197I probably benign Het
Oosp2 A G 19: 11,647,461 L155S probably damaging Het
Plxnd1 T A 6: 115,966,799 T1180S possibly damaging Het
Prpf39 T A 12: 65,042,724 F79I possibly damaging Het
Prph G A 15: 99,058,636 S465N possibly damaging Het
Purg A T 8: 33,386,603 I90L probably damaging Het
Pxdn C A 12: 29,987,137 Q305K probably benign Het
R3hdm1 G A 1: 128,216,543 S816N probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
Tmem201 G A 4: 149,719,588 probably benign Het
Triml1 T C 8: 43,138,563 probably null Het
Upp1 A G 11: 9,136,100 *312W probably null Het
Wdfy3 G T 5: 101,895,064 S1940R probably damaging Het
Xpc T C 6: 91,492,353 Y804C probably damaging Het
Xrn2 C T 2: 147,034,847 probably benign Het
Zfp106 A T 2: 120,524,464 D1275E possibly damaging Het
Other mutations in Tnfrsf22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Tnfrsf22 APN 7 143643275 critical splice donor site probably null
IGL02395:Tnfrsf22 APN 7 143643316 missense probably damaging 1.00
IGL02608:Tnfrsf22 APN 7 143644796 nonsense probably null
IGL03054:Tnfrsf22 UTSW 7 143640795 missense probably damaging 1.00
R1987:Tnfrsf22 UTSW 7 143638389 unclassified probably benign
R2228:Tnfrsf22 UTSW 7 143644776 splice site probably null
R2229:Tnfrsf22 UTSW 7 143644776 splice site probably null
R4562:Tnfrsf22 UTSW 7 143649576 missense unknown
R4829:Tnfrsf22 UTSW 7 143643330 missense possibly damaging 0.91
R6486:Tnfrsf22 UTSW 7 143640756 missense possibly damaging 0.93
R6903:Tnfrsf22 UTSW 7 143639904 unclassified probably benign
R7146:Tnfrsf22 UTSW 7 143640819 missense probably damaging 1.00
R7406:Tnfrsf22 UTSW 7 143640827 missense probably damaging 1.00
R8108:Tnfrsf22 UTSW 7 143638373 missense unknown
Posted On2013-10-07