Incidental Mutation 'R1161:Ifit1bl1'
ID |
100433 |
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 |
039234-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1161 (G1)
|
Quality Score |
176 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
34570291-34579356 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34571096 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 454
(S454P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132781
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102825]
[ENSMUST00000112467]
[ENSMUST00000168254]
|
AlphaFold |
D3Z6F0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102825
|
SMART Domains |
Protein: ENSMUSP00000099889 Gene: ENSMUSG00000074896
Domain | Start | End | E-Value | Type |
TPR
|
51 |
84 |
7.69e1 |
SMART |
TPR
|
94 |
127 |
2.84e1 |
SMART |
TPR
|
136 |
169 |
5.69e0 |
SMART |
Blast:TPR
|
170 |
206 |
6e-6 |
BLAST |
low complexity region
|
209 |
218 |
N/A |
INTRINSIC |
TPR
|
241 |
274 |
1.02e1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112467
AA Change: S454P
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108086 Gene: ENSMUSG00000079339 AA Change: S454P
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 |
possibly damaging
Transcript: ENSMUST00000168254
AA Change: S454P
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132781 Gene: ENSMUSG00000079339 AA Change: S454P
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: 99.5%
- 3x: 98.4%
- 10x: 95.7%
- 20x: 89.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcl10 |
T |
G |
3: 145,636,180 (GRCm39) |
V26G |
probably damaging |
Het |
C4b |
A |
G |
17: 34,948,567 (GRCm39) |
V1581A |
probably damaging |
Het |
Camk1g |
T |
C |
1: 193,030,662 (GRCm39) |
D349G |
probably benign |
Het |
Ccdc106 |
G |
A |
7: 5,062,539 (GRCm39) |
D11N |
possibly damaging |
Het |
Ckap5 |
T |
G |
2: 91,429,720 (GRCm39) |
L1464R |
probably null |
Het |
Def6 |
G |
A |
17: 28,436,593 (GRCm39) |
V86I |
probably benign |
Het |
Dnm3 |
T |
A |
1: 162,181,143 (GRCm39) |
T179S |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Eme1 |
G |
A |
11: 94,536,368 (GRCm39) |
R534C |
probably damaging |
Het |
Fhip1a |
A |
G |
3: 85,579,775 (GRCm39) |
I810T |
probably damaging |
Het |
Fzd3 |
G |
A |
14: 65,449,537 (GRCm39) |
R514C |
probably damaging |
Het |
H2-T24 |
G |
T |
17: 36,325,888 (GRCm39) |
Y234* |
probably null |
Het |
Ipcef1 |
T |
A |
10: 6,930,288 (GRCm39) |
|
probably null |
Het |
Mmel1 |
C |
T |
4: 154,979,671 (GRCm39) |
R764C |
probably damaging |
Het |
Or7e166 |
A |
G |
9: 19,624,476 (GRCm39) |
M118V |
probably damaging |
Het |
Pde4c |
A |
G |
8: 71,202,572 (GRCm39) |
D592G |
possibly damaging |
Het |
Prx |
T |
C |
7: 27,219,102 (GRCm39) |
F1340S |
probably damaging |
Het |
Rgs7 |
T |
C |
1: 174,907,021 (GRCm39) |
T90A |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,584,123 (GRCm39) |
W1497* |
probably null |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Srrm3 |
CAAGAAGAAGAAGAA |
CAAGAAGAAGAA |
5: 135,883,246 (GRCm39) |
|
probably benign |
Het |
Svep1 |
T |
A |
4: 58,069,416 (GRCm39) |
Y2790F |
possibly damaging |
Het |
Tmeff2 |
T |
C |
1: 51,220,946 (GRCm39) |
V307A |
probably damaging |
Het |
Tmem38a |
T |
A |
8: 73,333,814 (GRCm39) |
F98I |
probably damaging |
Het |
Trp73 |
A |
G |
4: 154,165,780 (GRCm39) |
|
probably null |
Het |
Usp29 |
A |
G |
7: 6,964,529 (GRCm39) |
E124G |
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 |
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 |
R2442:Ifit1bl1
|
UTSW |
19 |
34,572,289 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2014-01-15 |