Incidental Mutation 'IGL02166:Sigirr'
| ID |
282712 |
| 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: 0.086)
|
| Stock # |
IGL02166
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140671088-140680485 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140672140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 268
(I268M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066873]
[ENSMUST00000097958]
[ENSMUST00000106039]
[ENSMUST00000209294]
[ENSMUST00000210167]
[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 benign
Transcript: ENSMUST00000097958
AA Change: I268M
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000095571
Gene: ENSMUSG00000025494
AA Change: I268M
| 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: ENSMUST00000209294
AA Change: I268M
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210167
AA Change: I268M
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210978
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209887
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209352
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aopep |
A |
G |
13: 63,163,267 (GRCm39) |
H96R |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,917,083 (GRCm39) |
D344G |
probably damaging |
Het |
| Ciao3 |
A |
G |
17: 25,999,294 (GRCm39) |
D236G |
possibly damaging |
Het |
| Cltc |
T |
C |
11: 86,594,914 (GRCm39) |
I1399V |
probably benign |
Het |
| Col4a1 |
A |
T |
8: 11,294,509 (GRCm39) |
|
probably benign |
Het |
| Crtc3 |
C |
T |
7: 80,327,147 (GRCm39) |
G60R |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,594,999 (GRCm39) |
V701M |
probably damaging |
Het |
| Eif3b |
T |
A |
5: 140,425,705 (GRCm39) |
C632S |
possibly damaging |
Het |
| Ephb3 |
G |
A |
16: 21,039,499 (GRCm39) |
R417Q |
probably damaging |
Het |
| Fpr3 |
T |
C |
17: 18,190,726 (GRCm39) |
|
probably benign |
Het |
| Hpdl |
A |
G |
4: 116,678,149 (GRCm39) |
V104A |
probably damaging |
Het |
| Ighv1-55 |
T |
C |
12: 115,171,840 (GRCm39) |
S76G |
probably benign |
Het |
| Ikbip |
T |
C |
10: 90,931,652 (GRCm39) |
S99P |
probably damaging |
Het |
| Lnpk |
T |
C |
2: 74,360,061 (GRCm39) |
E318G |
probably damaging |
Het |
| Lrrc66 |
G |
A |
5: 73,764,634 (GRCm39) |
T803M |
probably damaging |
Het |
| Nxf2 |
C |
A |
X: 133,857,878 (GRCm39) |
W89L |
possibly damaging |
Het |
| Or2y11 |
A |
G |
11: 49,442,757 (GRCm39) |
Y61C |
probably damaging |
Het |
| Or5d46 |
A |
T |
2: 88,170,022 (GRCm39) |
I38F |
probably damaging |
Het |
| Or6c3b |
T |
A |
10: 129,527,782 (GRCm39) |
I43F |
probably benign |
Het |
| Osbp2 |
A |
T |
11: 3,667,983 (GRCm39) |
C5S |
probably damaging |
Het |
| Ovol2 |
T |
C |
2: 144,147,650 (GRCm39) |
N200S |
possibly damaging |
Het |
| Ppp4r1 |
A |
G |
17: 66,120,487 (GRCm39) |
D207G |
probably benign |
Het |
| Prdm11 |
C |
T |
2: 92,843,208 (GRCm39) |
V84M |
probably damaging |
Het |
| Rspo3 |
T |
A |
10: 29,411,275 (GRCm39) |
E17V |
possibly damaging |
Het |
| Scarf2 |
A |
G |
16: 17,621,620 (GRCm39) |
N357D |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,323,447 (GRCm39) |
D1447E |
possibly damaging |
Het |
| Sdad1 |
G |
A |
5: 92,439,621 (GRCm39) |
T433I |
probably benign |
Het |
| Seh1l |
A |
G |
18: 67,918,093 (GRCm39) |
N149S |
probably damaging |
Het |
| Slc35d2 |
A |
G |
13: 64,246,162 (GRCm39) |
F282S |
probably damaging |
Het |
| Slc4a1 |
A |
T |
11: 102,245,159 (GRCm39) |
M596K |
probably damaging |
Het |
| Spta1 |
G |
A |
1: 174,017,797 (GRCm39) |
E494K |
probably damaging |
Het |
| Stk32b |
C |
A |
5: 37,656,374 (GRCm39) |
|
probably benign |
Het |
| Tex13b |
T |
C |
X: 139,713,475 (GRCm39) |
E122G |
probably damaging |
Het |
| Tmem35a |
A |
G |
X: 133,205,357 (GRCm39) |
N91S |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,047,313 (GRCm39) |
V841A |
possibly damaging |
Het |
| Trdv2-1 |
A |
G |
14: 54,184,068 (GRCm39) |
D100G |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,468,346 (GRCm39) |
S112P |
probably benign |
Het |
| Tssc4 |
T |
C |
7: 142,623,938 (GRCm39) |
M82T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,562,723 (GRCm39) |
S28744P |
probably damaging |
Het |
| Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
| Vim |
T |
C |
2: 13,579,405 (GRCm39) |
S55P |
probably damaging |
Het |
| Zmat5 |
T |
A |
11: 4,687,363 (GRCm39) |
Y139N |
possibly damaging |
Het |
| Zswim2 |
G |
A |
2: 83,745,750 (GRCm39) |
Q563* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation