Incidental Mutation 'R5262:Ifi47'
ID |
401513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ifi47
|
Ensembl Gene |
ENSMUSG00000078920 |
Gene Name |
interferon gamma inducible protein 47 |
Synonyms |
47kDa, IRG-47, Igrd, Iigp4 |
MMRRC Submission |
042857-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R5262 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
48967414-48987801 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48986559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 109
(T109A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150940
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046704]
[ENSMUST00000056759]
[ENSMUST00000102785]
[ENSMUST00000109202]
[ENSMUST00000152914]
[ENSMUST00000179282]
[ENSMUST00000203149]
[ENSMUST00000214804]
[ENSMUST00000213728]
[ENSMUST00000203810]
|
AlphaFold |
Q61635 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046704
AA Change: T109A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000041975 Gene: ENSMUSG00000078920 AA Change: T109A
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
40 |
414 |
1.7e-177 |
PFAM |
Pfam:MMR_HSR1
|
76 |
219 |
9e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000056759
|
SMART Domains |
Protein: ENSMUSP00000058544 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
4 |
227 |
5.7e-7 |
PFAM |
Pfam:7tm_1
|
10 |
259 |
1.5e-33 |
PFAM |
Pfam:7tm_4
|
108 |
252 |
1.7e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102785
|
SMART Domains |
Protein: ENSMUSP00000099846 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
4 |
227 |
5.7e-7 |
PFAM |
Pfam:7tm_1
|
10 |
259 |
1.5e-33 |
PFAM |
Pfam:7tm_4
|
108 |
252 |
1.7e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109202
AA Change: T109A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000104825 Gene: ENSMUSG00000078920 AA Change: T109A
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
40 |
414 |
3.1e-175 |
PFAM |
Pfam:Miro
|
76 |
191 |
2.4e-6 |
PFAM |
Pfam:MMR_HSR1
|
76 |
211 |
3.9e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152914
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179282
|
SMART Domains |
Protein: ENSMUSP00000136647 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
1 |
276 |
3.6e-51 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
4 |
227 |
5.7e-7 |
PFAM |
Pfam:7tm_1
|
10 |
259 |
3.8e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203149
|
SMART Domains |
Protein: ENSMUSP00000145429 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
32 |
308 |
2.6e-51 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
36 |
253 |
3.8e-7 |
PFAM |
Pfam:7tm_1
|
42 |
291 |
2.5e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203412
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214804
AA Change: T109A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213728
AA Change: T109A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203810
|
SMART Domains |
Protein: ENSMUSP00000144951 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
32 |
308 |
2.6e-51 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
36 |
253 |
3.8e-7 |
PFAM |
Pfam:7tm_1
|
42 |
291 |
2.5e-26 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
Validation Efficiency |
98% (61/62) |
MGI Phenotype |
PHENOTYPE: In the absence of infection, mice show no overt phenotype. Resistance to protozoan parasitic infection is impaired in homozygous mutant mice, whereas resistance to bacterial and viral infection are normal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago4 |
T |
A |
4: 126,390,557 (GRCm39) |
D821V |
possibly damaging |
Het |
Ankdd1b |
C |
A |
13: 96,557,281 (GRCm39) |
R384L |
probably damaging |
Het |
Ces1e |
A |
G |
8: 93,950,586 (GRCm39) |
F65S |
probably damaging |
Het |
Cfap53 |
A |
C |
18: 74,462,530 (GRCm39) |
S425R |
probably benign |
Het |
Corin |
A |
G |
5: 72,462,298 (GRCm39) |
V837A |
probably damaging |
Het |
Cyp2d34 |
A |
T |
15: 82,502,572 (GRCm39) |
V188E |
probably damaging |
Het |
Defb26 |
A |
T |
2: 152,349,878 (GRCm39) |
M134K |
unknown |
Het |
Dnah10 |
A |
C |
5: 124,862,220 (GRCm39) |
K2158N |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 66,003,159 (GRCm39) |
V882M |
probably benign |
Het |
Dpyd |
C |
A |
3: 118,591,071 (GRCm39) |
Y186* |
probably null |
Het |
Elovl1 |
G |
A |
4: 118,288,124 (GRCm39) |
|
probably benign |
Het |
Fars2 |
T |
A |
13: 36,526,001 (GRCm39) |
I329N |
probably damaging |
Het |
Gstm1 |
T |
A |
3: 107,923,679 (GRCm39) |
M109L |
probably benign |
Het |
Gtf2e1 |
T |
C |
16: 37,356,293 (GRCm39) |
T80A |
probably damaging |
Het |
Gtf2h2 |
A |
G |
13: 100,618,356 (GRCm39) |
|
probably benign |
Het |
Hrh4 |
G |
T |
18: 13,148,870 (GRCm39) |
L77F |
probably damaging |
Het |
Igsf5 |
G |
T |
16: 96,192,237 (GRCm39) |
E179* |
probably null |
Het |
Ints8 |
A |
G |
4: 11,211,916 (GRCm39) |
I885T |
probably damaging |
Het |
Iqgap1 |
T |
G |
7: 80,376,490 (GRCm39) |
I1341L |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,269,219 (GRCm39) |
L2567P |
probably damaging |
Het |
Lilrb4a |
T |
C |
10: 51,369,303 (GRCm39) |
|
probably null |
Het |
Maip1 |
G |
A |
1: 57,446,131 (GRCm39) |
R67H |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,237,375 (GRCm39) |
I254F |
possibly damaging |
Het |
Nfkb1 |
A |
T |
3: 135,318,173 (GRCm39) |
|
probably null |
Het |
Nlrp4a |
T |
C |
7: 26,159,236 (GRCm39) |
|
probably null |
Het |
Nrap |
A |
T |
19: 56,308,655 (GRCm39) |
I1477N |
possibly damaging |
Het |
Pdgfa |
A |
G |
5: 138,979,049 (GRCm39) |
S52P |
probably benign |
Het |
Pou1f1 |
G |
T |
16: 65,328,868 (GRCm39) |
E196* |
probably null |
Het |
Ppp2r5e |
G |
A |
12: 75,640,045 (GRCm39) |
R19W |
probably damaging |
Het |
Ptn |
T |
A |
6: 36,721,419 (GRCm39) |
Q7L |
probably benign |
Het |
Rbp3 |
G |
T |
14: 33,676,807 (GRCm39) |
A252S |
probably damaging |
Het |
Rcor2 |
G |
T |
19: 7,251,426 (GRCm39) |
V313L |
probably damaging |
Het |
Rtp3 |
A |
T |
9: 110,815,195 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,787,323 (GRCm39) |
T1017A |
probably damaging |
Het |
Scgb2b11 |
T |
C |
7: 31,908,776 (GRCm39) |
N108S |
probably benign |
Het |
Sgo2b |
C |
A |
8: 64,396,171 (GRCm39) |
L28F |
probably damaging |
Het |
Shroom3 |
A |
G |
5: 93,112,432 (GRCm39) |
E1850G |
probably damaging |
Het |
Slc16a14 |
A |
G |
1: 84,890,612 (GRCm39) |
L231P |
probably benign |
Het |
Slfn5 |
A |
G |
11: 82,847,496 (GRCm39) |
E127G |
possibly damaging |
Het |
Snx16 |
C |
T |
3: 10,502,892 (GRCm39) |
M118I |
probably damaging |
Het |
Snx21 |
T |
C |
2: 164,633,741 (GRCm39) |
F176L |
probably damaging |
Het |
Tap2 |
A |
G |
17: 34,432,990 (GRCm39) |
N424S |
probably benign |
Het |
Tcf7l1 |
T |
C |
6: 72,613,449 (GRCm39) |
|
probably benign |
Het |
Trappc8 |
C |
T |
18: 20,951,247 (GRCm39) |
V1400I |
probably benign |
Het |
Trim58 |
T |
C |
11: 58,542,494 (GRCm39) |
Y485H |
possibly damaging |
Het |
U2af1l4 |
C |
T |
7: 30,263,638 (GRCm39) |
T65I |
probably benign |
Het |
Ufl1 |
G |
T |
4: 25,251,294 (GRCm39) |
|
probably benign |
Het |
Usp8 |
A |
G |
2: 126,593,031 (GRCm39) |
N762S |
probably damaging |
Het |
Virma |
A |
T |
4: 11,539,926 (GRCm39) |
D1465V |
probably benign |
Het |
Vmn1r48 |
A |
T |
6: 90,013,016 (GRCm39) |
S270T |
probably benign |
Het |
Vrk2 |
T |
A |
11: 26,541,697 (GRCm39) |
Y9F |
possibly damaging |
Het |
Wwp1 |
A |
G |
4: 19,631,057 (GRCm39) |
F659L |
probably damaging |
Het |
Zbtb24 |
C |
T |
10: 41,340,556 (GRCm39) |
Q529* |
probably null |
Het |
Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ifi47 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00508:Ifi47
|
APN |
11 |
48,986,241 (GRCm39) |
nonsense |
probably null |
|
IGL00811:Ifi47
|
APN |
11 |
48,986,244 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02451:Ifi47
|
APN |
11 |
48,986,604 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02468:Ifi47
|
APN |
11 |
48,986,810 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02902:Ifi47
|
APN |
11 |
48,986,617 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03260:Ifi47
|
APN |
11 |
48,986,932 (GRCm39) |
missense |
probably damaging |
0.99 |
R0111:Ifi47
|
UTSW |
11 |
48,986,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R0636:Ifi47
|
UTSW |
11 |
48,987,478 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1548:Ifi47
|
UTSW |
11 |
48,986,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R2255:Ifi47
|
UTSW |
11 |
48,987,474 (GRCm39) |
missense |
probably benign |
0.02 |
R3703:Ifi47
|
UTSW |
11 |
48,986,352 (GRCm39) |
missense |
probably benign |
0.01 |
R5071:Ifi47
|
UTSW |
11 |
48,986,361 (GRCm39) |
missense |
probably benign |
0.01 |
R5073:Ifi47
|
UTSW |
11 |
48,986,361 (GRCm39) |
missense |
probably benign |
0.01 |
R5074:Ifi47
|
UTSW |
11 |
48,986,361 (GRCm39) |
missense |
probably benign |
0.01 |
R5902:Ifi47
|
UTSW |
11 |
48,986,213 (GRCm39) |
splice site |
probably null |
|
R6745:Ifi47
|
UTSW |
11 |
48,986,329 (GRCm39) |
missense |
probably benign |
0.38 |
R7155:Ifi47
|
UTSW |
11 |
48,987,369 (GRCm39) |
missense |
probably benign |
0.39 |
R7535:Ifi47
|
UTSW |
11 |
48,987,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R8330:Ifi47
|
UTSW |
11 |
48,986,637 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8412:Ifi47
|
UTSW |
11 |
48,986,425 (GRCm39) |
missense |
probably damaging |
0.98 |
R9076:Ifi47
|
UTSW |
11 |
48,986,842 (GRCm39) |
missense |
probably benign |
|
R9487:Ifi47
|
UTSW |
11 |
48,986,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R9747:Ifi47
|
UTSW |
11 |
48,987,367 (GRCm39) |
missense |
possibly damaging |
0.93 |
Z1177:Ifi47
|
UTSW |
11 |
48,987,102 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTCACTGGTATTCACAAAGCC -3'
(R):5'- TTATTTTCTGAGCCAGGAGAGC -3'
Sequencing Primer
(F):5'- TGGTATTCACAAAGCCCTCCAGG -3'
(R):5'- TTCTGAGCCAGGAGAGCATCATTG -3'
|
Posted On |
2016-07-06 |