Incidental Mutation 'IGL00706:Ifit1bl2'
| ID |
8433 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ifit1bl2
|
| Ensembl Gene |
ENSMUSG00000067297 |
| Gene Name |
interferon induced protein with tetratricopeptide repeats 1B like 2 |
| Synonyms |
2010002M12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00706
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
34594449-34618143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34596282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 445
(T445S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087357]
[ENSMUST00000112463]
|
| AlphaFold |
Q3U687 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087357
AA Change: T445S
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000093816
Gene: ENSMUSG00000067297
AA Change: T445S
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
60 |
93 |
2.92e1 |
SMART |
|
TPR
|
100 |
133 |
6.24e1 |
SMART |
|
TPR
|
144 |
179 |
4.32e1 |
SMART |
|
low complexity region
|
217 |
230 |
N/A |
INTRINSIC |
|
TPR
|
249 |
282 |
2.24e1 |
SMART |
|
TPR
|
334 |
367 |
4.55e1 |
SMART |
|
low complexity region
|
411 |
421 |
N/A |
INTRINSIC |
|
TPR
|
429 |
462 |
1.45e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112463
AA Change: T445S
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000108082
Gene: ENSMUSG00000067297
AA Change: T445S
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
60 |
93 |
2.92e1 |
SMART |
|
TPR
|
100 |
133 |
6.24e1 |
SMART |
|
TPR
|
144 |
179 |
4.32e1 |
SMART |
|
low complexity region
|
217 |
230 |
N/A |
INTRINSIC |
|
TPR
|
249 |
282 |
2.24e1 |
SMART |
|
TPR
|
334 |
367 |
4.55e1 |
SMART |
|
low complexity region
|
411 |
421 |
N/A |
INTRINSIC |
|
TPR
|
429 |
462 |
1.45e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
C |
A |
19: 8,991,094 (GRCm39) |
S4126* |
probably null |
Het |
| Arhgap26 |
T |
A |
18: 39,419,604 (GRCm39) |
N521K |
probably damaging |
Het |
| Bard1 |
C |
T |
1: 71,070,585 (GRCm39) |
R633H |
probably benign |
Het |
| Cntn3 |
C |
T |
6: 102,180,910 (GRCm39) |
V762I |
probably benign |
Het |
| Cyp2e1 |
T |
C |
7: 140,349,066 (GRCm39) |
I132T |
probably benign |
Het |
| Cyp2t4 |
T |
C |
7: 26,854,583 (GRCm39) |
I13T |
probably benign |
Het |
| Dhx36 |
A |
T |
3: 62,404,263 (GRCm39) |
C227S |
probably damaging |
Het |
| Fetub |
A |
G |
16: 22,754,446 (GRCm39) |
T138A |
probably benign |
Het |
| Gab3 |
C |
T |
X: 74,048,965 (GRCm39) |
S362N |
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,751,584 (GRCm39) |
L501P |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,383,597 (GRCm39) |
D779E |
possibly damaging |
Het |
| Ms4a5 |
C |
T |
19: 11,261,142 (GRCm39) |
V6I |
probably benign |
Het |
| Rgl3 |
A |
G |
9: 21,888,535 (GRCm39) |
F425S |
probably damaging |
Het |
| Rnf6 |
T |
C |
5: 146,148,715 (GRCm39) |
D112G |
possibly damaging |
Het |
| Spink12 |
G |
A |
18: 44,240,872 (GRCm39) |
C86Y |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,928,121 (GRCm39) |
E497G |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,055,416 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ifit1bl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Ifit1bl2
|
APN |
19 |
34,597,319 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01322:Ifit1bl2
|
APN |
19 |
34,596,404 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01362:Ifit1bl2
|
APN |
19 |
34,596,884 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03061:Ifit1bl2
|
APN |
19 |
34,597,124 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0039:Ifit1bl2
|
UTSW |
19 |
34,596,846 (GRCm39) |
nonsense |
probably null |
|
|
R1079:Ifit1bl2
|
UTSW |
19 |
34,596,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1438:Ifit1bl2
|
UTSW |
19 |
34,596,569 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2050:Ifit1bl2
|
UTSW |
19 |
34,596,870 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2104:Ifit1bl2
|
UTSW |
19 |
34,596,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2228:Ifit1bl2
|
UTSW |
19 |
34,596,630 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2229:Ifit1bl2
|
UTSW |
19 |
34,596,630 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4468:Ifit1bl2
|
UTSW |
19 |
34,596,468 (GRCm39) |
nonsense |
probably null |
|
|
R4517:Ifit1bl2
|
UTSW |
19 |
34,607,164 (GRCm39) |
start gained |
probably benign |
|
|
R5723:Ifit1bl2
|
UTSW |
19 |
34,597,458 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5935:Ifit1bl2
|
UTSW |
19 |
34,597,128 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6024:Ifit1bl2
|
UTSW |
19 |
34,597,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6083:Ifit1bl2
|
UTSW |
19 |
34,597,217 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6085:Ifit1bl2
|
UTSW |
19 |
34,597,217 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6280:Ifit1bl2
|
UTSW |
19 |
34,597,534 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6368:Ifit1bl2
|
UTSW |
19 |
34,596,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6905:Ifit1bl2
|
UTSW |
19 |
34,596,990 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7048:Ifit1bl2
|
UTSW |
19 |
34,596,551 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7355:Ifit1bl2
|
UTSW |
19 |
34,597,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Ifit1bl2
|
UTSW |
19 |
34,596,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7661:Ifit1bl2
|
UTSW |
19 |
34,596,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9500:Ifit1bl2
|
UTSW |
19 |
34,596,508 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation