Incidental Mutation 'R8412:Ifi47'
| ID |
652756 |
| 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 |
067816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R8412 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
48967414-48987801 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 48986425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 64
(Q64P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041975
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046704]
[ENSMUST00000056759]
[ENSMUST00000102785]
[ENSMUST00000109202]
[ENSMUST00000152914]
[ENSMUST00000179282]
[ENSMUST00000203149]
[ENSMUST00000203810]
[ENSMUST00000213728]
[ENSMUST00000214804]
|
| AlphaFold |
Q61635 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046704
AA Change: Q64P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041975
Gene: ENSMUSG00000078920
AA Change: Q64P
| 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 damaging
Transcript: ENSMUST00000109202
AA Change: Q64P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104825
Gene: ENSMUSG00000078920
AA Change: Q64P
| 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 |
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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213728
AA Change: Q64P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214804
AA Change: Q64P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
T |
A |
1: 183,765,356 (GRCm39) |
R234S |
probably damaging |
Het |
| Ace |
T |
A |
11: 105,870,092 (GRCm39) |
F806Y |
probably benign |
Het |
| Ak8 |
A |
G |
2: 28,629,643 (GRCm39) |
T286A |
probably benign |
Het |
| Apba2 |
T |
A |
7: 64,395,546 (GRCm39) |
F674Y |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,058,069 (GRCm39) |
I2184V |
probably benign |
Het |
| Arhgap23 |
C |
T |
11: 97,356,854 (GRCm39) |
P884L |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,294,554 (GRCm39) |
L90P |
probably damaging |
Het |
| Bhmt2 |
T |
A |
13: 93,798,820 (GRCm39) |
I334F |
possibly damaging |
Het |
| Bmi1 |
C |
T |
2: 18,689,114 (GRCm39) |
T266I |
probably damaging |
Het |
| Cdh26 |
A |
G |
2: 178,104,517 (GRCm39) |
I301V |
probably damaging |
Het |
| Cenpx |
A |
T |
11: 120,602,558 (GRCm39) |
H68Q |
unknown |
Het |
| Cnot10 |
T |
C |
9: 114,439,738 (GRCm39) |
R524G |
probably benign |
Het |
| Cnpy1 |
A |
T |
5: 28,414,206 (GRCm39) |
Y22* |
probably null |
Het |
| Csmd3 |
C |
T |
15: 47,499,794 (GRCm39) |
R2114H |
|
Het |
| Defa29 |
T |
A |
8: 21,816,062 (GRCm39) |
T102S |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,744,711 (GRCm39) |
I582T |
probably benign |
Het |
| Gm14295 |
G |
A |
2: 176,501,422 (GRCm39) |
C304Y |
probably damaging |
Het |
| Gucy2d |
T |
C |
7: 98,093,046 (GRCm39) |
V141A |
possibly damaging |
Het |
| Irx3 |
G |
T |
8: 92,527,028 (GRCm39) |
S225R |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,340,581 (GRCm39) |
H289R |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,802,128 (GRCm39) |
D512G |
probably damaging |
Het |
| Mcm3 |
C |
T |
1: 20,886,980 (GRCm39) |
V142I |
probably benign |
Het |
| Med23 |
C |
A |
10: 24,784,632 (GRCm39) |
F1200L |
probably benign |
Het |
| Ndst4 |
A |
T |
3: 125,364,439 (GRCm39) |
D372V |
possibly damaging |
Het |
| Nob1 |
T |
A |
8: 108,148,230 (GRCm39) |
K71* |
probably null |
Het |
| Ntrk3 |
A |
G |
7: 78,005,897 (GRCm39) |
I488T |
probably benign |
Het |
| Pds5b |
G |
T |
5: 150,643,424 (GRCm39) |
C82F |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,360,022 (GRCm39) |
V969E |
possibly damaging |
Het |
| Ppme1 |
A |
T |
7: 99,984,298 (GRCm39) |
N307K |
probably benign |
Het |
| Pus7l |
C |
T |
15: 94,425,856 (GRCm39) |
C515Y |
probably benign |
Het |
| Rpp21 |
T |
A |
17: 36,568,591 (GRCm39) |
H22L |
possibly damaging |
Het |
| Scamp3 |
T |
C |
3: 89,088,525 (GRCm39) |
F244L |
probably damaging |
Het |
| Scgb1b7 |
A |
T |
7: 31,412,379 (GRCm39) |
K52* |
probably null |
Het |
| Slc12a3 |
T |
C |
8: 95,060,695 (GRCm39) |
I261T |
probably damaging |
Het |
| Slc19a3 |
C |
T |
1: 82,992,533 (GRCm39) |
R396H |
probably damaging |
Het |
| Slc22a14 |
T |
C |
9: 119,009,922 (GRCm39) |
I58V |
probably benign |
Het |
| Slc9a9 |
A |
C |
9: 95,111,092 (GRCm39) |
T637P |
probably damaging |
Het |
| Snrnp40 |
T |
A |
4: 130,278,316 (GRCm39) |
C274S |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,088,457 (GRCm39) |
V905A |
probably damaging |
Het |
| Taok3 |
A |
G |
5: 117,404,102 (GRCm39) |
D759G |
possibly damaging |
Het |
| Tas1r1 |
T |
C |
4: 152,117,033 (GRCm39) |
I200M |
probably benign |
Het |
| Tnfrsf25 |
T |
C |
4: 152,204,139 (GRCm39) |
V360A |
possibly damaging |
Het |
| Trim12a |
A |
T |
7: 103,953,544 (GRCm39) |
M189K |
possibly damaging |
Het |
| Tspan32 |
T |
C |
7: 142,559,695 (GRCm39) |
F41L |
probably benign |
Het |
| Tube1 |
T |
A |
10: 39,021,657 (GRCm39) |
S301T |
possibly damaging |
Het |
| Usp8 |
T |
C |
2: 126,584,578 (GRCm39) |
S596P |
probably benign |
Het |
| Virma |
T |
A |
4: 11,521,261 (GRCm39) |
|
probably null |
Het |
| Vmn2r58 |
T |
C |
7: 41,513,722 (GRCm39) |
D307G |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,888,964 (GRCm39) |
K327R |
probably damaging |
Het |
| Zfp54 |
C |
T |
17: 21,654,910 (GRCm39) |
T468M |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,551 (GRCm39) |
I668N |
possibly damaging |
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 |
|
R5262:Ifi47
|
UTSW |
11 |
48,986,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TGCCATGGATCAGTTCATCTC -3'
(R):5'- CAGGTCCCAGAAGATCACTTTG -3'
Sequencing Primer
(F):5'- ATGGATCAGTTCATCTCAGCCTTC -3'
(R):5'- CCAGAAGATCACTTTGGGATATTTTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation