Incidental Mutation 'R5615:Sigirr'
ID438194
Institutional Source Beutler Lab
Gene Symbol Sigirr
Ensembl Gene ENSMUSG00000025494
Gene Namesingle immunoglobulin and toll-interleukin 1 receptor (TIR) domain
SynonymsTir8, Sigirr
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #R5615 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location141091175-141100572 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 141092719 bp
ZygosityHeterozygous
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] [ENSMUST00000209199] [ENSMUST00000209294] [ENSMUST00000209352] [ENSMUST00000210167]
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 noncoding transcript
Transcript: ENSMUST00000161142
Predicted Effect probably benign
Transcript: ENSMUST00000209199
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: ENSMUST00000209352
Predicted Effect probably benign
Transcript: ENSMUST00000209887
Predicted Effect probably damaging
Transcript: ENSMUST00000210167
AA Change: L163F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210978
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
0610010F05Rik A T 11: 23,606,759 L407H probably damaging Het
Abca12 A T 1: 71,307,059 L884H probably damaging Het
Ahr A G 12: 35,503,885 V745A probably benign Het
Ankrd17 A T 5: 90,283,436 S830T possibly damaging Het
Aox1 A G 1: 58,096,966 T1123A probably benign Het
Arhgef11 T C 3: 87,722,485 probably null Het
Bcas3 T A 11: 85,470,761 C250S probably damaging Het
Bckdk T C 7: 127,907,317 I272T probably damaging Het
Cacna1e T C 1: 154,412,170 K1897E probably damaging Het
Cd180 A T 13: 102,706,203 I586F probably benign Het
Cep290 A G 10: 100,531,150 D1121G probably damaging Het
Clasrp A G 7: 19,586,447 probably benign Het
Col27a1 G T 4: 63,281,114 K912N probably damaging Het
Dock4 G T 12: 40,649,480 R231L probably benign Het
Ell G A 8: 70,590,732 S505N probably benign Het
Ephb6 A G 6: 41,619,291 T833A probably benign Het
Hemk1 T A 9: 107,330,824 probably null Het
Hjurp GT GTT 1: 88,266,524 probably null Het
Hspa12a T C 19: 58,804,650 I368V possibly damaging Het
Igkv3-3 A T 6: 70,687,230 T19S probably benign Het
Itpr1 G A 6: 108,488,600 A2158T possibly damaging Het
Lancl2 T C 6: 57,722,511 Y104H probably damaging Het
Leng8 G T 7: 4,144,958 E634* probably null Het
Lrrk1 A T 7: 66,287,615 C930S probably damaging Het
Lvrn C T 18: 46,850,328 S46L possibly damaging Het
Mcidas G A 13: 112,997,425 V148I probably benign Het
Mprip A T 11: 59,758,487 T1006S probably benign Het
Mrgprb3 T A 7: 48,643,486 M106L probably benign Het
Mroh2a GCCC GC 1: 88,232,257 probably null Het
Mtor G A 4: 148,538,276 V1938I possibly damaging Het
Muc2 A G 7: 141,691,203 D46G probably damaging Het
Nfkb2 G T 19: 46,307,567 E170D probably benign Het
Olfr1113 T A 2: 87,213,739 F282L probably benign Het
Olfr811 A T 10: 129,801,767 C253S probably damaging Het
Osbp2 C T 11: 3,863,356 G171D probably benign Het
Otud6b A T 4: 14,818,187 M238K possibly damaging Het
Pcdhac2 G A 18: 37,146,423 G819R probably benign Het
Pcdhac2 G T 18: 37,146,424 G819V probably benign Het
Pcdhga12 T G 18: 37,768,079 S655A probably damaging Het
Pkd1l3 A G 8: 109,630,210 I756V probably benign Het
Plekhd1 T A 12: 80,720,590 S251T probably damaging Het
Ppp2r1a A T 17: 20,958,987 T96S probably benign Het
Qser1 A C 2: 104,789,694 S258A possibly damaging Het
Rsph4a G A 10: 33,909,328 A412T probably benign Het
Sass6 T A 3: 116,607,486 C159S probably benign Het
Scaf4 T C 16: 90,251,960 Q322R unknown Het
Sema6d C T 2: 124,656,901 H244Y probably damaging Het
Spata31d1c C A 13: 65,035,264 L207I possibly damaging Het
Tacstd2 A G 6: 67,535,049 F220L probably damaging Het
Tdpoz4 A T 3: 93,797,499 T368S probably benign Het
Tnxb C A 17: 34,683,418 Q1082K probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,807,365 probably benign Het
Trpm6 C T 19: 18,829,933 R1014C probably damaging Het
Ugt1a10 TTCATCA TTCA 1: 88,216,158 probably benign Het
Vmn2r114 ATTT ATT 17: 23,290,932 probably null Het
Vmn2r61 A G 7: 42,300,493 E779G probably damaging Het
Vmn2r61 T A 7: 42,267,253 M430K probably benign Het
Zfp599 T C 9: 22,253,869 D70G probably benign Het
Zmym1 A T 4: 127,049,398 I301N probably damaging Het
Other mutations in Sigirr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Sigirr APN 7 141092234 missense probably benign 0.29
IGL02166:Sigirr APN 7 141092227 missense probably benign 0.02
IGL02662:Sigirr APN 7 141094794 start gained probably benign
R0044:Sigirr UTSW 7 141092313 unclassified probably null
R0081:Sigirr UTSW 7 141091372 missense probably damaging 1.00
R0512:Sigirr UTSW 7 141092420 missense probably benign 0.01
R0651:Sigirr UTSW 7 141093067 missense possibly damaging 0.94
R0652:Sigirr UTSW 7 141093067 missense possibly damaging 0.94
R2471:Sigirr UTSW 7 141092597 missense probably damaging 0.97
R3028:Sigirr UTSW 7 141092279 missense probably damaging 0.99
R4786:Sigirr UTSW 7 141091433 missense probably benign 0.17
R4910:Sigirr UTSW 7 141093788 missense probably damaging 1.00
R5861:Sigirr UTSW 7 141091379 missense probably damaging 1.00
R5944:Sigirr UTSW 7 141091387 missense probably damaging 1.00
R6764:Sigirr UTSW 7 141093242 missense probably benign 0.01
R8076:Sigirr UTSW 7 141091872 missense probably benign 0.08
X0010:Sigirr UTSW 7 141093274 missense probably benign 0.00
X0058:Sigirr UTSW 7 141093912 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 On2016-10-26