Incidental Mutation 'R5615:Sigirr'
ID 438194
Institutional Source Beutler Lab
Gene Symbol Sigirr
Ensembl Gene ENSMUSG00000025494
Gene Name single immunoglobulin and toll-interleukin 1 receptor (TIR) domain
Synonyms Sigirr, Tir8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R5615 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 140671088-140680485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 140672632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 163 (L163F)
Ref Sequence ENSEMBL: ENSMUSP00000147280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066873] [ENSMUST00000097958] [ENSMUST00000106039] [ENSMUST00000210167] [ENSMUST00000209294] [ENSMUST00000209352] [ENSMUST00000209199]
AlphaFold Q9JLZ8
Predicted Effect probably benign
Transcript: ENSMUST00000066873
SMART Domains Protein: ENSMUSP00000069961
Gene: ENSMUSG00000054065

DomainStartEndE-ValueType
low complexity region 40 54 N/A INTRINSIC
low complexity region 139 150 N/A INTRINSIC
low complexity region 179 194 N/A INTRINSIC
low complexity region 219 228 N/A INTRINSIC
ARM 350 390 8.11e-5 SMART
ARM 392 432 3.24e-4 SMART
ARM 489 536 3.85e0 SMART
internal_repeat_1 605 702 2.91e-9 PROSPERO
low complexity region 717 731 N/A INTRINSIC
low complexity region 757 774 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097958
AA Change: L163F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095571
Gene: ENSMUSG00000025494
AA Change: L163F

DomainStartEndE-ValueType
IG 17 112 5.21e-2 SMART
transmembrane domain 117 139 N/A INTRINSIC
Pfam:TIR 163 327 2.2e-19 PFAM
Pfam:TIR_2 166 308 2.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106039
SMART Domains Protein: ENSMUSP00000101654
Gene: ENSMUSG00000054065

DomainStartEndE-ValueType
low complexity region 65 79 N/A INTRINSIC
low complexity region 164 175 N/A INTRINSIC
low complexity region 204 219 N/A INTRINSIC
low complexity region 244 253 N/A INTRINSIC
ARM 375 415 8.11e-5 SMART
ARM 417 457 3.24e-4 SMART
ARM 514 561 3.85e0 SMART
internal_repeat_1 630 727 4.99e-9 PROSPERO
low complexity region 742 756 N/A INTRINSIC
low complexity region 782 799 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160615
Predicted Effect probably damaging
Transcript: ENSMUST00000210167
AA Change: L163F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000209294
AA Change: L163F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000209887
Predicted Effect probably benign
Transcript: ENSMUST00000209352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210978
Predicted Effect probably benign
Transcript: ENSMUST00000209199
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: When challenged, homozygous mutant mice show an increased inflammatory response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,346,218 (GRCm39) L884H probably damaging Het
Ahr A G 12: 35,553,884 (GRCm39) V745A probably benign Het
Ankrd17 A T 5: 90,431,295 (GRCm39) S830T possibly damaging Het
Aox1 A G 1: 58,136,125 (GRCm39) T1123A probably benign Het
Arhgef11 T C 3: 87,629,792 (GRCm39) probably null Het
Bcas3 T A 11: 85,361,587 (GRCm39) C250S probably damaging Het
Bckdk T C 7: 127,506,489 (GRCm39) I272T probably damaging Het
Cacna1e T C 1: 154,287,916 (GRCm39) K1897E probably damaging Het
Cd180 A T 13: 102,842,711 (GRCm39) I586F probably benign Het
Cep290 A G 10: 100,367,012 (GRCm39) D1121G probably damaging Het
Clasrp A G 7: 19,320,372 (GRCm39) probably benign Het
Col27a1 G T 4: 63,199,351 (GRCm39) K912N probably damaging Het
Dock4 G T 12: 40,699,479 (GRCm39) R231L probably benign Het
Ell G A 8: 71,043,382 (GRCm39) S505N probably benign Het
Ephb6 A G 6: 41,596,225 (GRCm39) T833A probably benign Het
Hemk1 T A 9: 107,208,023 (GRCm39) probably null Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hspa12a T C 19: 58,793,082 (GRCm39) I368V possibly damaging Het
Igkv3-3 A T 6: 70,664,214 (GRCm39) T19S probably benign Het
Itpr1 G A 6: 108,465,561 (GRCm39) A2158T possibly damaging Het
Lancl2 T C 6: 57,699,496 (GRCm39) Y104H probably damaging Het
Leng8 G T 7: 4,147,957 (GRCm39) E634* probably null Het
Lrrk1 A T 7: 65,937,363 (GRCm39) C930S probably damaging Het
Lvrn C T 18: 46,983,395 (GRCm39) S46L possibly damaging Het
Mcidas G A 13: 113,133,959 (GRCm39) V148I probably benign Het
Mprip A T 11: 59,649,313 (GRCm39) T1006S probably benign Het
Mrgprb3 T A 7: 48,293,234 (GRCm39) M106L probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtor G A 4: 148,622,733 (GRCm39) V1938I possibly damaging Het
Muc2 A G 7: 141,277,446 (GRCm39) D46G probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10ag52 T A 2: 87,044,083 (GRCm39) F282L probably benign Het
Or6c215 A T 10: 129,637,636 (GRCm39) C253S probably damaging Het
Osbp2 C T 11: 3,813,356 (GRCm39) G171D probably benign Het
Otud6b A T 4: 14,818,187 (GRCm39) M238K possibly damaging Het
Pcdhac2 G A 18: 37,279,476 (GRCm39) G819R probably benign Het
Pcdhac2 G T 18: 37,279,477 (GRCm39) G819V probably benign Het
Pcdhga12 T G 18: 37,901,132 (GRCm39) S655A probably damaging Het
Pkd1l3 A G 8: 110,356,842 (GRCm39) I756V probably benign Het
Plekhd1 T A 12: 80,767,364 (GRCm39) S251T probably damaging Het
Ppp2r1a A T 17: 21,179,249 (GRCm39) T96S probably benign Het
Qser1 A C 2: 104,620,039 (GRCm39) S258A possibly damaging Het
Rsph4a G A 10: 33,785,324 (GRCm39) A412T probably benign Het
Sanbr A T 11: 23,556,759 (GRCm39) L407H probably damaging Het
Sass6 T A 3: 116,401,135 (GRCm39) C159S probably benign Het
Scaf4 T C 16: 90,048,848 (GRCm39) Q322R unknown Het
Sema6d C T 2: 124,498,821 (GRCm39) H244Y probably damaging Het
Spata31d1c C A 13: 65,183,078 (GRCm39) L207I possibly damaging Het
Tacstd2 A G 6: 67,512,033 (GRCm39) F220L probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tnxb C A 17: 34,902,392 (GRCm39) Q1082K probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,698,192 (GRCm39) probably benign Het
Trpm6 C T 19: 18,807,297 (GRCm39) R1014C probably damaging Het
Ugt1a10 TTCATCA TTCA 1: 88,143,880 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r61 T A 7: 41,916,677 (GRCm39) M430K probably benign Het
Vmn2r61 A G 7: 41,949,917 (GRCm39) E779G probably damaging Het
Zfp599 T C 9: 22,165,165 (GRCm39) D70G probably benign Het
Zmym1 A T 4: 126,943,191 (GRCm39) I301N probably damaging Het
Other mutations in Sigirr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Sigirr APN 7 140,672,147 (GRCm39) missense probably benign 0.29
IGL02166:Sigirr APN 7 140,672,140 (GRCm39) missense probably benign 0.02
IGL02662:Sigirr APN 7 140,674,707 (GRCm39) start gained probably benign
R0044:Sigirr UTSW 7 140,672,226 (GRCm39) splice site probably null
R0081:Sigirr UTSW 7 140,671,285 (GRCm39) missense probably damaging 1.00
R0512:Sigirr UTSW 7 140,672,333 (GRCm39) missense probably benign 0.01
R0651:Sigirr UTSW 7 140,672,980 (GRCm39) missense possibly damaging 0.94
R0652:Sigirr UTSW 7 140,672,980 (GRCm39) missense possibly damaging 0.94
R2471:Sigirr UTSW 7 140,672,510 (GRCm39) missense probably damaging 0.97
R3028:Sigirr UTSW 7 140,672,192 (GRCm39) missense probably damaging 0.99
R4786:Sigirr UTSW 7 140,671,346 (GRCm39) missense probably benign 0.17
R4910:Sigirr UTSW 7 140,673,701 (GRCm39) missense probably damaging 1.00
R5861:Sigirr UTSW 7 140,671,292 (GRCm39) missense probably damaging 1.00
R5944:Sigirr UTSW 7 140,671,300 (GRCm39) missense probably damaging 1.00
R6764:Sigirr UTSW 7 140,673,155 (GRCm39) missense probably benign 0.01
R8076:Sigirr UTSW 7 140,671,785 (GRCm39) missense probably benign 0.08
R8266:Sigirr UTSW 7 140,671,662 (GRCm39) missense unknown
R9726:Sigirr UTSW 7 140,672,123 (GRCm39) missense probably damaging 1.00
X0010:Sigirr UTSW 7 140,673,187 (GRCm39) missense probably benign 0.00
X0058:Sigirr UTSW 7 140,673,825 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCACCAAAAGGTCGGCAGAG -3'
(R):5'- ATTAGGGCACAGGTTTCAGCC -3'

Sequencing Primer
(F):5'- CTCTGTAGGCAAGGGCGTG -3'
(R):5'- AAGCCGGGTTCAGTCCTAG -3'
Posted On 2016-10-26