Incidental Mutation 'R6085:Ifit1bl2'
| ID |
482455 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6085 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
34594449-34618143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 34597217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 133
(F133C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087357]
[ENSMUST00000112463]
|
| AlphaFold |
Q3U687 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087357
AA Change: F133C
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093816
Gene: ENSMUSG00000067297
AA Change: F133C
| 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 |
possibly damaging
Transcript: ENSMUST00000112463
AA Change: F133C
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108082
Gene: ENSMUSG00000067297
AA Change: F133C
| 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 |
|
| Meta Mutation Damage Score |
0.2849 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Boc |
G |
T |
16: 44,308,970 (GRCm39) |
D847E |
probably damaging |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,134,255 (GRCm39) |
I1051T |
unknown |
Het |
| Ciita |
A |
G |
16: 10,330,029 (GRCm39) |
E771G |
probably benign |
Het |
| Cul2 |
T |
C |
18: 3,431,508 (GRCm39) |
F638L |
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,429,866 (GRCm39) |
Y293H |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,655,139 (GRCm39) |
R1050W |
probably damaging |
Het |
| Etv1 |
G |
A |
12: 38,904,194 (GRCm39) |
D285N |
probably damaging |
Het |
| Hs3st3a1 |
G |
A |
11: 64,327,004 (GRCm39) |
V38I |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,615,156 (GRCm39) |
T1360I |
probably benign |
Het |
| Mgrn1 |
A |
G |
16: 4,738,240 (GRCm39) |
T265A |
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,177,842 (GRCm39) |
V1075A |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,859,950 (GRCm39) |
Y35C |
|
Het |
| Pld4 |
A |
G |
12: 112,733,320 (GRCm39) |
T299A |
probably benign |
Het |
| Prr5 |
T |
A |
15: 84,572,106 (GRCm39) |
I38N |
probably damaging |
Het |
| Slc25a47 |
A |
G |
12: 108,820,254 (GRCm39) |
Y86C |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,817,308 (GRCm39) |
I241M |
possibly damaging |
Het |
| Synrg |
A |
T |
11: 83,930,487 (GRCm39) |
E1276D |
possibly damaging |
Het |
| Taar7e |
T |
C |
10: 23,913,761 (GRCm39) |
F84L |
probably benign |
Het |
| Tssk1 |
G |
A |
16: 17,712,848 (GRCm39) |
C211Y |
possibly damaging |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Xpo7 |
A |
T |
14: 70,934,051 (GRCm39) |
S236T |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACATCTGCATAGCCAGCGTTG -3'
(R):5'- ATCCCATCTACAGCATCGGG -3'
Sequencing Primer
(F):5'- ATAGCCAGCGTTGTACTCAG -3'
(R):5'- CCTACGTGAGGCACCTGAAAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation