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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |