Incidental Mutation 'R2471:Sigirr'
ID 253092
Institutional Source Beutler Lab
Gene Symbol Sigirr
Ensembl Gene ENSMUSG00000025494
Gene Name single immunoglobulin and toll-interleukin 1 receptor (TIR) domain
Synonyms Sigirr, Tir8
MMRRC Submission 040403-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R2471 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 140671088-140680485 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140672510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 204 (L204S)
Ref Sequence ENSEMBL: ENSMUSP00000147280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066873] [ENSMUST00000097958] [ENSMUST00000106039] [ENSMUST00000210167] [ENSMUST00000209294] [ENSMUST00000209199] [ENSMUST00000209352]
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: L204S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095571
Gene: ENSMUSG00000025494
AA Change: L204S

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: L204S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000209294
AA Change: L204S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000209199
Predicted Effect probably benign
Transcript: ENSMUST00000209887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161142
Predicted Effect probably benign
Transcript: ENSMUST00000209352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210941
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A T 9: 55,888,147 (GRCm39) M390K probably benign Het
Bicra A G 7: 15,706,257 (GRCm39) S1395P probably benign Het
Cacnb2 G A 2: 14,989,125 (GRCm39) D402N probably damaging Het
Csmd1 T A 8: 16,261,776 (GRCm39) D907V probably damaging Het
Cstl1 T A 2: 148,593,041 (GRCm39) Y65* probably null Het
Dnajc1 T C 2: 18,224,627 (GRCm39) I213V possibly damaging Het
Emcn C T 3: 137,109,772 (GRCm39) T138M probably damaging Het
F3 G T 3: 121,518,689 (GRCm39) W51L probably damaging Het
Far2 A G 6: 148,040,192 (GRCm39) Y41C probably damaging Het
Flrt1 A T 19: 7,073,856 (GRCm39) D230E probably damaging Het
Gimap7 G A 6: 48,700,986 (GRCm39) V191M probably damaging Het
Gm19402 A T 10: 77,526,354 (GRCm39) probably benign Het
Ipo5 A C 14: 121,159,574 (GRCm39) K134T probably benign Het
Kcnf1 T C 12: 17,225,531 (GRCm39) E230G probably damaging Het
Mad1l1 T C 5: 140,247,307 (GRCm39) E340G probably benign Het
Map4k5 T C 12: 69,903,620 (GRCm39) I62V probably benign Het
Marchf7 A G 2: 60,067,244 (GRCm39) K588R possibly damaging Het
Mctp2 T A 7: 71,810,909 (GRCm39) K52* probably null Het
Nr1h4 A T 10: 89,309,756 (GRCm39) F310L probably damaging Het
Ofcc1 G A 13: 40,250,501 (GRCm39) S605F probably damaging Het
Or2w1b A T 13: 21,300,599 (GRCm39) T246S probably damaging Het
Or5ac25 A T 16: 59,181,944 (GRCm39) S212R possibly damaging Het
Or5b97 G A 19: 12,878,679 (GRCm39) T155I probably benign Het
Pcdh20 T G 14: 88,704,672 (GRCm39) E876A probably benign Het
Plce1 C T 19: 38,768,370 (GRCm39) A2215V probably damaging Het
Ptprg T C 14: 12,210,327 (GRCm38) Y128H probably damaging Het
Slc2a12 A T 10: 22,540,706 (GRCm39) Y187F probably damaging Het
Slc31a2 A T 4: 62,214,312 (GRCm39) R86W probably null Het
Smc1b T C 15: 84,976,218 (GRCm39) K830E probably damaging Het
Ssrp1 A G 2: 84,872,642 (GRCm39) N427D possibly damaging Het
Taar9 A T 10: 23,985,289 (GRCm39) F48L probably benign Het
Taok2 T C 7: 126,474,272 (GRCm39) E319G probably damaging Het
Try10 T C 6: 41,333,680 (GRCm39) S142P probably damaging Het
Tsc22d1 A G 14: 76,655,644 (GRCm39) T626A probably benign Het
Zfp101 T C 17: 33,599,950 (GRCm39) E602G possibly 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
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
R5615:Sigirr UTSW 7 140,672,632 (GRCm39) missense probably damaging 0.99
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'- TCTGAAAGAACCACGATGAGAC -3'
(R):5'- AGTGTCTCAGAAGGGCACAG -3'

Sequencing Primer
(F):5'- CACGATGAGACGCCGACAG -3'
(R):5'- CTGAACATGGACTAGAGGTGCCTC -3'
Posted On 2014-12-04