Incidental Mutation 'R3422:Ifit1bl1'
| ID |
334588 |
| 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 |
040640-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3422 (G1)
|
| Quality Score |
48 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
34570291-34579356 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 34571350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 369
(N369T)
|
| 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: N369T
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108086
Gene: ENSMUSG00000079339
AA Change: N369T
| 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: N369T
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000132781
Gene: ENSMUSG00000079339
AA Change: N369T
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
G |
6: 34,770,900 (GRCm39) |
T132A |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,983,072 (GRCm39) |
D1452G |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,984,116 (GRCm39) |
D1800G |
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,518,686 (GRCm39) |
D51N |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,466,586 (GRCm39) |
T2117A |
possibly damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,782,292 (GRCm39) |
K216M |
probably null |
Het |
| Ccdc73 |
G |
A |
2: 104,782,293 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,400,597 (GRCm39) |
W650R |
probably damaging |
Het |
| D930048N14Rik |
T |
C |
11: 51,545,785 (GRCm39) |
*226R |
probably null |
Het |
| Grin1 |
C |
T |
2: 25,193,926 (GRCm39) |
G390D |
probably damaging |
Het |
| Kcnip1 |
A |
G |
11: 33,595,594 (GRCm39) |
V43A |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,621,595 (GRCm39) |
I81N |
probably damaging |
Het |
| Me2 |
C |
T |
18: 73,924,265 (GRCm39) |
A316T |
probably damaging |
Het |
| Mgat4d |
T |
C |
8: 84,084,772 (GRCm39) |
S172P |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nmt2 |
A |
G |
2: 3,285,425 (GRCm39) |
E31G |
possibly damaging |
Het |
| Nuak2 |
A |
G |
1: 132,259,818 (GRCm39) |
D532G |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,882,536 (GRCm39) |
V63L |
possibly damaging |
Het |
| Odad2 |
T |
C |
18: 7,223,523 (GRCm39) |
|
probably benign |
Het |
| Or1e1 |
A |
G |
11: 73,245,460 (GRCm39) |
N294D |
probably damaging |
Het |
| Or4k15b |
T |
C |
14: 50,271,997 (GRCm39) |
T288A |
possibly damaging |
Het |
| Otub1 |
C |
T |
19: 7,176,424 (GRCm39) |
D237N |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,254,738 (GRCm39) |
F416L |
probably damaging |
Het |
| Psmb2 |
T |
C |
4: 126,571,630 (GRCm39) |
M28T |
probably damaging |
Het |
| Saysd1 |
T |
A |
14: 20,132,994 (GRCm39) |
K54N |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,012,407 (GRCm39) |
V359A |
probably benign |
Het |
| Slc7a3 |
T |
A |
X: 100,124,481 (GRCm39) |
|
probably benign |
Het |
| Soat2 |
T |
C |
15: 102,065,244 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,143,311 (GRCm39) |
K756R |
probably benign |
Het |
| Tafa1 |
C |
A |
6: 96,626,099 (GRCm39) |
D112E |
probably damaging |
Het |
| Tlr4 |
A |
G |
4: 66,757,773 (GRCm39) |
I189V |
probably benign |
Het |
| Vsig2 |
G |
A |
9: 37,452,775 (GRCm39) |
V195I |
possibly damaging |
Het |
| Zfp217 |
A |
G |
2: 169,961,937 (GRCm39) |
F130S |
possibly damaging |
Het |
| Zfp91 |
G |
A |
19: 12,747,656 (GRCm39) |
A489V |
probably benign |
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 |
|
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 |
|
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'- CCCAAGTTTTCCAGGACATGATC -3'
(R):5'- TTCAAACATGCAACCAAGAGGG -3'
Sequencing Primer
(F):5'- AGGACATGATCTTCCTTGCG -3'
(R):5'- CATGCAACCAAGAGGGGAAGATAG -3'
|
| Posted On |
2015-09-16 |
Incidental Mutation