Incidental Mutation 'IGL00517:Sigirr'
| ID |
5098 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.082)
|
| Stock # |
IGL00517
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140671088-140680485 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140672147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 266
(E266G)
|
| 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
| 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 benign
Transcript: ENSMUST00000097958
AA Change: E266G
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095571
Gene: ENSMUSG00000025494
AA Change: E266G
| 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 benign
Transcript: ENSMUST00000210167
AA Change: E266G
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209294
AA Change: E266G
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210978
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209887
|
| Coding Region Coverage |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
C |
T |
7: 101,037,256 (GRCm39) |
R180W |
probably damaging |
Het |
| Atg4a |
T |
A |
X: 139,945,488 (GRCm39) |
M345K |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,015,077 (GRCm39) |
V408A |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,884,988 (GRCm39) |
G551D |
probably damaging |
Het |
| Cdh2 |
A |
C |
18: 16,760,693 (GRCm39) |
V558G |
possibly damaging |
Het |
| Col9a1 |
T |
A |
1: 24,234,615 (GRCm39) |
|
probably benign |
Het |
| Fbxo15 |
T |
A |
18: 84,977,225 (GRCm39) |
F46I |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,653,478 (GRCm39) |
I497T |
probably damaging |
Het |
| Gtf2f2 |
A |
G |
14: 76,232,941 (GRCm39) |
V75A |
probably benign |
Het |
| Hpse |
T |
C |
5: 100,839,196 (GRCm39) |
H384R |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 27,073,326 (GRCm39) |
T1044S |
probably benign |
Het |
| Lamp2 |
T |
C |
X: 37,545,186 (GRCm39) |
|
probably benign |
Het |
| Lipe |
C |
A |
7: 25,087,985 (GRCm39) |
|
probably null |
Het |
| Marf1 |
T |
C |
16: 13,933,606 (GRCm39) |
E1594G |
possibly damaging |
Het |
| Mettl24 |
T |
C |
10: 40,686,496 (GRCm39) |
V291A |
probably benign |
Het |
| Patj |
G |
T |
4: 98,329,308 (GRCm39) |
V521F |
possibly damaging |
Het |
| Prkg1 |
A |
T |
19: 30,872,068 (GRCm39) |
D242E |
probably benign |
Het |
| Qsox2 |
T |
C |
2: 26,112,267 (GRCm39) |
I92V |
probably benign |
Het |
| Rasgrf1 |
T |
C |
9: 89,852,534 (GRCm39) |
Y367H |
probably damaging |
Het |
| Rpl21-ps4 |
T |
C |
14: 11,227,544 (GRCm38) |
|
noncoding transcript |
Het |
| Slitrk6 |
T |
C |
14: 110,988,547 (GRCm39) |
T387A |
probably benign |
Het |
| Smim22 |
T |
C |
16: 4,825,860 (GRCm39) |
L54P |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,566,206 (GRCm39) |
|
probably benign |
Het |
| Trappc14 |
A |
G |
5: 138,259,967 (GRCm39) |
V363A |
possibly damaging |
Het |
| Zswim3 |
T |
C |
2: 164,663,011 (GRCm39) |
L497S |
probably damaging |
Het |
|
| Other mutations in Sigirr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation