Incidental Mutation 'IGL00321:Ifit1bl2'
| ID |
13244 |
| 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 # |
IGL00321
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
34594449-34618143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34597319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 99
(S99N)
|
| 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: S99N
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000093816
Gene: ENSMUSG00000067297
AA Change: S99N
| 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: S99N
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108082
Gene: ENSMUSG00000067297
AA Change: S99N
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,078,418 (GRCm39) |
I602T |
probably benign |
Het |
| Adam39 |
A |
G |
8: 41,279,783 (GRCm39) |
R725G |
possibly damaging |
Het |
| Arid2 |
A |
G |
15: 96,186,970 (GRCm39) |
E74G |
probably damaging |
Het |
| Carf |
T |
A |
1: 60,164,001 (GRCm39) |
|
probably benign |
Het |
| Cit |
A |
T |
5: 115,984,524 (GRCm39) |
Q32L |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,178,514 (GRCm39) |
T526A |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,327,202 (GRCm39) |
E717G |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,290,029 (GRCm39) |
I968N |
probably damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,296,942 (GRCm39) |
Y297F |
probably damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,249,489 (GRCm39) |
L543P |
probably benign |
Het |
| Hid1 |
A |
T |
11: 115,249,895 (GRCm39) |
D84E |
probably benign |
Het |
| Kpna3 |
A |
G |
14: 61,629,302 (GRCm39) |
|
probably benign |
Het |
| Myadm |
C |
A |
7: 3,345,739 (GRCm39) |
P167Q |
possibly damaging |
Het |
| Ociad1 |
C |
T |
5: 73,461,886 (GRCm39) |
|
probably benign |
Het |
| Or2t43 |
A |
C |
11: 58,457,593 (GRCm39) |
Y193D |
probably damaging |
Het |
| Pcdh11x |
A |
T |
X: 119,502,265 (GRCm39) |
K1029N |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,026 (GRCm39) |
T119A |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,592,617 (GRCm39) |
R926G |
probably damaging |
Het |
| Ppwd1 |
A |
G |
13: 104,353,651 (GRCm39) |
F369S |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,100,472 (GRCm39) |
M201K |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,802,235 (GRCm39) |
I795N |
probably damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,368,261 (GRCm39) |
W510R |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,968,576 (GRCm39) |
L589P |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,572,717 (GRCm39) |
D176G |
probably null |
Het |
| Tom1 |
T |
A |
8: 75,778,802 (GRCm39) |
S24T |
probably benign |
Het |
| Vmn2r66 |
T |
A |
7: 84,656,299 (GRCm39) |
Q239L |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,993,040 (GRCm39) |
T149A |
probably benign |
Het |
| Zc3h3 |
A |
G |
15: 75,651,162 (GRCm39) |
I686T |
probably damaging |
Het |
|
| Other mutations in Ifit1bl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00706:Ifit1bl2
|
APN |
19 |
34,596,282 (GRCm39) |
missense |
probably benign |
0.09 |
|
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