Incidental Mutation 'R2442:Ifit1bl1'
ID |
249849 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifit1bl1
|
Ensembl Gene |
ENSMUSG00000079339 |
Gene Name |
interferon induced protein with tetratricpeptide repeats 1B like 1 |
Synonyms |
Gm14446 |
MMRRC Submission |
040400-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2442 (G1)
|
Quality Score |
197 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
34570291-34579356 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 34572289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 56
(A56V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132781
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112467]
[ENSMUST00000168254]
|
AlphaFold |
D3Z6F0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000112467
AA Change: A56V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000108086 Gene: ENSMUSG00000079339 AA Change: A56V
Domain | Start | End | E-Value | Type |
TPR
|
60 |
93 |
3.41e1 |
SMART |
TPR
|
100 |
133 |
6.24e1 |
SMART |
TPR
|
146 |
179 |
3.69e1 |
SMART |
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
TPR
|
249 |
282 |
6.75e1 |
SMART |
TPR
|
338 |
371 |
1.64e1 |
SMART |
low complexity region
|
417 |
429 |
N/A |
INTRINSIC |
TPR
|
433 |
466 |
1.08e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168254
AA Change: A56V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000132781 Gene: ENSMUSG00000079339 AA Change: A56V
Domain | Start | End | E-Value | Type |
TPR
|
60 |
93 |
3.41e1 |
SMART |
TPR
|
100 |
133 |
6.24e1 |
SMART |
TPR
|
146 |
179 |
3.69e1 |
SMART |
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
TPR
|
249 |
282 |
6.75e1 |
SMART |
TPR
|
338 |
371 |
1.64e1 |
SMART |
low complexity region
|
417 |
429 |
N/A |
INTRINSIC |
TPR
|
433 |
466 |
1.08e1 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,547,606 (GRCm39) |
V256A |
probably benign |
Het |
Acap1 |
T |
C |
11: 69,780,317 (GRCm39) |
N42S |
possibly damaging |
Het |
Apoo-ps |
C |
A |
13: 107,551,140 (GRCm39) |
|
noncoding transcript |
Het |
Bri3 |
C |
T |
5: 144,181,411 (GRCm39) |
T39I |
probably benign |
Het |
Bsn |
A |
G |
9: 107,984,119 (GRCm39) |
S3312P |
unknown |
Het |
Camkmt |
C |
A |
17: 85,398,203 (GRCm39) |
A17E |
possibly damaging |
Het |
Cc2d2a |
G |
T |
5: 43,828,647 (GRCm39) |
|
probably null |
Het |
Ccdc122 |
G |
T |
14: 77,329,398 (GRCm39) |
M150I |
possibly damaging |
Het |
Celf4 |
A |
G |
18: 25,886,516 (GRCm39) |
F57L |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,957,759 (GRCm39) |
F564Y |
possibly damaging |
Het |
Ces1c |
T |
C |
8: 93,849,840 (GRCm39) |
D38G |
probably damaging |
Het |
Cts7 |
C |
A |
13: 61,503,431 (GRCm39) |
G178* |
probably null |
Het |
Dcc |
A |
T |
18: 71,589,954 (GRCm39) |
Y681N |
probably damaging |
Het |
Dhx29 |
A |
G |
13: 113,083,508 (GRCm39) |
E521G |
possibly damaging |
Het |
Dnase2a |
T |
C |
8: 85,635,622 (GRCm39) |
V35A |
probably damaging |
Het |
Eif3l |
A |
G |
15: 78,969,807 (GRCm39) |
M268V |
probably damaging |
Het |
Foxc1 |
A |
G |
13: 31,992,781 (GRCm39) |
M531V |
unknown |
Het |
Grin2c |
A |
G |
11: 115,141,960 (GRCm39) |
Y820H |
probably damaging |
Het |
Iqsec1 |
T |
C |
6: 90,666,865 (GRCm39) |
E524G |
possibly damaging |
Het |
Kcnt2 |
A |
G |
1: 140,304,091 (GRCm39) |
I154V |
possibly damaging |
Het |
Kdm1b |
T |
A |
13: 47,216,451 (GRCm39) |
Y274N |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,948,922 (GRCm39) |
L1889Q |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,075,312 (GRCm39) |
T1010A |
probably benign |
Het |
Mmp11 |
T |
C |
10: 75,763,079 (GRCm39) |
N171S |
probably benign |
Het |
Myom1 |
A |
G |
17: 71,417,730 (GRCm39) |
E1409G |
probably damaging |
Het |
N4bp1 |
A |
G |
8: 87,588,668 (GRCm39) |
I90T |
probably damaging |
Het |
Or4c52 |
T |
C |
2: 89,845,685 (GRCm39) |
V137A |
probably benign |
Het |
Plcb4 |
T |
C |
2: 135,792,302 (GRCm39) |
S342P |
probably damaging |
Het |
Plg |
A |
G |
17: 12,629,847 (GRCm39) |
E627G |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Slc7a14 |
A |
G |
3: 31,284,469 (GRCm39) |
I289T |
probably damaging |
Het |
Srpra |
G |
A |
9: 35,123,297 (GRCm39) |
G43S |
possibly damaging |
Het |
Tbc1d9 |
T |
C |
8: 83,892,705 (GRCm39) |
M1T |
probably null |
Het |
Tcte2 |
A |
T |
17: 13,934,339 (GRCm39) |
I90N |
possibly damaging |
Het |
Trim30c |
G |
A |
7: 104,031,481 (GRCm39) |
P445S |
probably damaging |
Het |
Trrap |
A |
G |
5: 144,754,776 (GRCm39) |
Q1984R |
probably damaging |
Het |
Ubn2 |
T |
C |
6: 38,467,940 (GRCm39) |
S885P |
probably benign |
Het |
Unc45a |
A |
G |
7: 79,989,417 (GRCm39) |
F17S |
probably damaging |
Het |
Uts2b |
C |
T |
16: 27,179,782 (GRCm39) |
V75I |
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 19,993,793 (GRCm39) |
K57E |
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,221,210 (GRCm39) |
S524G |
probably damaging |
Het |
|
Other mutations in Ifit1bl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4544001:Ifit1bl1
|
UTSW |
19 |
34,571,415 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0420:Ifit1bl1
|
UTSW |
19 |
34,571,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R1161:Ifit1bl1
|
UTSW |
19 |
34,571,096 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1310:Ifit1bl1
|
UTSW |
19 |
34,571,096 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1483:Ifit1bl1
|
UTSW |
19 |
34,572,041 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1606:Ifit1bl1
|
UTSW |
19 |
34,571,444 (GRCm39) |
missense |
probably benign |
0.00 |
R1753:Ifit1bl1
|
UTSW |
19 |
34,571,260 (GRCm39) |
missense |
probably benign |
0.15 |
R1778:Ifit1bl1
|
UTSW |
19 |
34,571,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R2204:Ifit1bl1
|
UTSW |
19 |
34,571,741 (GRCm39) |
missense |
probably benign |
0.23 |
R2205:Ifit1bl1
|
UTSW |
19 |
34,571,741 (GRCm39) |
missense |
probably benign |
0.23 |
R2858:Ifit1bl1
|
UTSW |
19 |
34,571,722 (GRCm39) |
missense |
probably benign |
0.01 |
R3422:Ifit1bl1
|
UTSW |
19 |
34,571,350 (GRCm39) |
missense |
probably benign |
0.04 |
R4081:Ifit1bl1
|
UTSW |
19 |
34,572,040 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4125:Ifit1bl1
|
UTSW |
19 |
34,572,188 (GRCm39) |
missense |
probably damaging |
0.99 |
R4616:Ifit1bl1
|
UTSW |
19 |
34,572,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R4731:Ifit1bl1
|
UTSW |
19 |
34,571,721 (GRCm39) |
missense |
probably benign |
0.02 |
R4732:Ifit1bl1
|
UTSW |
19 |
34,571,721 (GRCm39) |
missense |
probably benign |
0.02 |
R4849:Ifit1bl1
|
UTSW |
19 |
34,572,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R5026:Ifit1bl1
|
UTSW |
19 |
34,571,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R5049:Ifit1bl1
|
UTSW |
19 |
34,571,481 (GRCm39) |
nonsense |
probably null |
|
R5414:Ifit1bl1
|
UTSW |
19 |
34,571,324 (GRCm39) |
missense |
probably damaging |
0.99 |
R5561:Ifit1bl1
|
UTSW |
19 |
34,571,197 (GRCm39) |
nonsense |
probably null |
|
R5586:Ifit1bl1
|
UTSW |
19 |
34,571,677 (GRCm39) |
missense |
probably damaging |
0.98 |
R6345:Ifit1bl1
|
UTSW |
19 |
34,571,570 (GRCm39) |
nonsense |
probably null |
|
R6382:Ifit1bl1
|
UTSW |
19 |
34,572,283 (GRCm39) |
missense |
probably benign |
0.16 |
R6515:Ifit1bl1
|
UTSW |
19 |
34,571,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R7073:Ifit1bl1
|
UTSW |
19 |
34,576,667 (GRCm39) |
critical splice donor site |
probably null |
|
R7180:Ifit1bl1
|
UTSW |
19 |
34,571,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R7210:Ifit1bl1
|
UTSW |
19 |
34,571,564 (GRCm39) |
missense |
probably benign |
0.00 |
R7665:Ifit1bl1
|
UTSW |
19 |
34,572,283 (GRCm39) |
missense |
probably benign |
0.16 |
R7724:Ifit1bl1
|
UTSW |
19 |
34,571,405 (GRCm39) |
missense |
probably benign |
0.00 |
R7783:Ifit1bl1
|
UTSW |
19 |
34,571,336 (GRCm39) |
missense |
probably benign |
0.01 |
R7944:Ifit1bl1
|
UTSW |
19 |
34,571,224 (GRCm39) |
missense |
probably benign |
0.00 |
R8251:Ifit1bl1
|
UTSW |
19 |
34,572,232 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8427:Ifit1bl1
|
UTSW |
19 |
34,576,666 (GRCm39) |
critical splice donor site |
probably null |
|
R8474:Ifit1bl1
|
UTSW |
19 |
34,572,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R8933:Ifit1bl1
|
UTSW |
19 |
34,571,413 (GRCm39) |
missense |
probably damaging |
0.99 |
R9095:Ifit1bl1
|
UTSW |
19 |
34,571,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R9282:Ifit1bl1
|
UTSW |
19 |
34,571,908 (GRCm39) |
missense |
probably benign |
0.28 |
R9314:Ifit1bl1
|
UTSW |
19 |
34,576,693 (GRCm39) |
missense |
probably benign |
0.08 |
R9432:Ifit1bl1
|
UTSW |
19 |
34,571,498 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAAATTCCTTGCACACCTTC -3'
(R):5'- TGTGGTTTGTCCCCAGTACAC -3'
Sequencing Primer
(F):5'- CAAGCTGCCCCTGTGGTAATG -3'
(R):5'- GGTTTGTCCCCAGTACACAGAATTTG -3'
|
Posted On |
2014-11-12 |