Incidental Mutation 'R5094:Ifit3b'
| ID |
388009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifit3b
|
| Ensembl Gene |
ENSMUSG00000062488 |
| Gene Name |
interferon-induced protein with tetratricopeptide repeats 3B |
| Synonyms |
I830012O16Rik |
| MMRRC Submission |
042683-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5094 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
34585370-34590801 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34589948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 375
(S375T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076249]
[ENSMUST00000087357]
[ENSMUST00000112463]
|
| AlphaFold |
E9PV48 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076249
AA Change: S375T
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075599
Gene: ENSMUSG00000062488
AA Change: S375T
| 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 |
5e-6 |
BLAST |
|
TPR
|
241 |
274 |
1.02e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087357
|
| SMART Domains |
Protein: ENSMUSP00000093816
Gene: ENSMUSG00000067297
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108082
Gene: ENSMUSG00000067297
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
91% (40/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
G |
T |
15: 81,946,883 (GRCm39) |
G260V |
possibly damaging |
Het |
| Agap3 |
T |
C |
5: 24,656,319 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,709,296 (GRCm39) |
S1173P |
probably damaging |
Het |
| C3 |
A |
T |
17: 57,532,033 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
G |
A |
15: 22,714,625 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,402,892 (GRCm39) |
K2274E |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,734,861 (GRCm39) |
|
probably benign |
Het |
| Chat |
T |
A |
14: 32,130,896 (GRCm39) |
I582F |
probably damaging |
Het |
| Chrnb4 |
T |
C |
9: 54,942,597 (GRCm39) |
I226V |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,981,730 (GRCm39) |
T139A |
probably damaging |
Het |
| Eml1 |
T |
C |
12: 108,502,570 (GRCm39) |
F712S |
probably benign |
Het |
| Fgfr1 |
C |
T |
8: 26,060,181 (GRCm39) |
S524L |
probably damaging |
Het |
| Gimap3 |
T |
C |
6: 48,742,306 (GRCm39) |
E208G |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,798,375 (GRCm39) |
D706V |
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,865,443 (GRCm39) |
V639D |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,007,893 (GRCm39) |
F1497S |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,293,554 (GRCm39) |
D612G |
probably benign |
Het |
| Mucl1 |
A |
G |
15: 103,785,669 (GRCm39) |
S13P |
possibly damaging |
Het |
| Or5w12 |
C |
T |
2: 87,502,174 (GRCm39) |
C179Y |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,384 (GRCm39) |
Y149F |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,374,081 (GRCm39) |
Y78* |
probably null |
Het |
| Pex13 |
A |
G |
11: 23,605,441 (GRCm39) |
V263A |
probably benign |
Het |
| Pfdn2 |
T |
A |
1: 171,184,067 (GRCm39) |
|
probably benign |
Het |
| Phip |
C |
T |
9: 82,753,897 (GRCm39) |
V1616I |
probably benign |
Het |
| Pigg |
A |
G |
5: 108,484,123 (GRCm39) |
S457G |
possibly damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,810,044 (GRCm39) |
S97P |
probably benign |
Het |
| Slc22a6 |
T |
C |
19: 8,603,541 (GRCm39) |
L535P |
probably damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,315,624 (GRCm39) |
T548A |
probably damaging |
Het |
| Smtnl2 |
T |
A |
11: 72,291,211 (GRCm39) |
S346C |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,852,858 (GRCm39) |
|
probably null |
Het |
| Tlcd2 |
T |
C |
11: 75,360,640 (GRCm39) |
S228P |
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,793,001 (GRCm39) |
L411P |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,611,872 (GRCm39) |
V170A |
probably benign |
Het |
|
| Other mutations in Ifit3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Galilee
|
UTSW |
19 |
34,588,925 (GRCm39) |
missense |
probably benign |
|
|
negev
|
UTSW |
19 |
34,588,860 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1528:Ifit3b
|
UTSW |
19 |
34,589,072 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1996:Ifit3b
|
UTSW |
19 |
34,588,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2680:Ifit3b
|
UTSW |
19 |
34,589,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2971:Ifit3b
|
UTSW |
19 |
34,589,417 (GRCm39) |
nonsense |
probably null |
|
|
R4395:Ifit3b
|
UTSW |
19 |
34,589,951 (GRCm39) |
nonsense |
probably null |
|
|
R4719:Ifit3b
|
UTSW |
19 |
34,590,030 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4726:Ifit3b
|
UTSW |
19 |
34,588,860 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5958:Ifit3b
|
UTSW |
19 |
34,589,142 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5987:Ifit3b
|
UTSW |
19 |
34,589,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6381:Ifit3b
|
UTSW |
19 |
34,589,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6614:Ifit3b
|
UTSW |
19 |
34,588,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6662:Ifit3b
|
UTSW |
19 |
34,589,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6804:Ifit3b
|
UTSW |
19 |
34,588,947 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6847:Ifit3b
|
UTSW |
19 |
34,588,925 (GRCm39) |
missense |
probably benign |
|
|
R7685:Ifit3b
|
UTSW |
19 |
34,589,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGCAGAAGACTCTTCAGAGG -3'
(R):5'- TTCATGGTGCCAGGAAAAGC -3'
Sequencing Primer
(F):5'- GAGGCGAAGTCCTTTGAACTC -3'
(R):5'- AAGTGTGTTGCCTCCCAAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation