Incidental Mutation 'R6745:Ifi47'
ID |
530542 |
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 |
044862-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R6745 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
48967414-48987801 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 48986329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 32
(I32S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150940
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046704]
[ENSMUST00000056759]
[ENSMUST00000102785]
[ENSMUST00000109202]
[ENSMUST00000152914]
[ENSMUST00000179282]
[ENSMUST00000213728]
[ENSMUST00000214804]
[ENSMUST00000203149]
[ENSMUST00000203810]
|
AlphaFold |
Q61635 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046704
AA Change: I32S
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000041975 Gene: ENSMUSG00000078920 AA Change: I32S
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: I32S
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000104825 Gene: ENSMUSG00000078920 AA Change: I32S
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: ENSMUST00000213728
AA Change: I32S
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214804
AA Change: I32S
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
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 |
noncoding transcript
Transcript: ENSMUST00000203412
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (43/43) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
G |
T |
10: 10,265,941 (GRCm39) |
T1040K |
probably damaging |
Het |
Adgrf3 |
A |
G |
5: 30,408,601 (GRCm39) |
V59A |
probably benign |
Het |
Ankk1 |
G |
T |
9: 49,327,480 (GRCm39) |
H566Q |
probably benign |
Het |
Avil |
A |
C |
10: 126,849,988 (GRCm39) |
D613A |
probably benign |
Het |
Bbs9 |
A |
G |
9: 22,582,132 (GRCm39) |
N613S |
probably benign |
Het |
Chd1 |
A |
G |
17: 17,607,429 (GRCm39) |
T326A |
probably benign |
Het |
Clasp2 |
A |
T |
9: 113,704,338 (GRCm39) |
R558* |
probably null |
Het |
Cmbl |
A |
G |
15: 31,589,933 (GRCm39) |
D221G |
possibly damaging |
Het |
Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
Creb5 |
A |
T |
6: 53,581,517 (GRCm39) |
M172L |
probably benign |
Het |
Crybg3 |
A |
G |
16: 59,372,607 (GRCm39) |
V2291A |
possibly damaging |
Het |
Cyp2g1 |
T |
G |
7: 26,513,604 (GRCm39) |
V181G |
probably damaging |
Het |
Dclk1 |
T |
A |
3: 55,385,229 (GRCm39) |
S40T |
probably damaging |
Het |
Dnah10 |
G |
T |
5: 124,885,876 (GRCm39) |
M3053I |
probably damaging |
Het |
Dnah12 |
T |
A |
14: 26,428,383 (GRCm39) |
I268K |
probably damaging |
Het |
Dock2 |
C |
G |
11: 34,596,669 (GRCm39) |
D396H |
probably damaging |
Het |
Dock2 |
T |
A |
11: 34,596,670 (GRCm39) |
K395N |
probably damaging |
Het |
Gpbp1 |
G |
A |
13: 111,589,919 (GRCm39) |
R59C |
probably benign |
Het |
Ighg3 |
A |
G |
12: 113,323,890 (GRCm39) |
V166A |
unknown |
Het |
Katnip |
T |
C |
7: 125,369,822 (GRCm39) |
S137P |
probably benign |
Het |
Kdm5d |
T |
A |
Y: 927,112 (GRCm39) |
C617S |
probably benign |
Homo |
Kif20b |
T |
G |
19: 34,906,276 (GRCm39) |
S55A |
possibly damaging |
Het |
Klhl1 |
C |
T |
14: 96,517,438 (GRCm39) |
|
probably null |
Het |
Kndc1 |
C |
T |
7: 139,500,892 (GRCm39) |
T727I |
probably benign |
Het |
Lrrk1 |
A |
T |
7: 65,922,749 (GRCm39) |
I298N |
probably damaging |
Het |
Ly75 |
C |
A |
2: 60,138,523 (GRCm39) |
R1448L |
probably damaging |
Het |
Mup4 |
C |
T |
4: 59,960,091 (GRCm39) |
V58M |
possibly damaging |
Het |
Nr2c1 |
T |
C |
10: 94,026,526 (GRCm39) |
F467S |
probably damaging |
Het |
Or14j9 |
T |
A |
17: 37,874,470 (GRCm39) |
H244L |
probably damaging |
Het |
Pla2g4a |
G |
T |
1: 149,761,981 (GRCm39) |
Q151K |
probably benign |
Het |
Pom121l2 |
A |
T |
13: 22,167,868 (GRCm39) |
Q713L |
probably benign |
Het |
Pomgnt1 |
T |
A |
4: 116,011,080 (GRCm39) |
S210T |
probably damaging |
Het |
Prb1a |
T |
C |
6: 132,186,383 (GRCm39) |
|
probably null |
Het |
Pyroxd2 |
T |
C |
19: 42,735,799 (GRCm39) |
D101G |
probably damaging |
Het |
Ranbp3 |
A |
G |
17: 57,016,308 (GRCm39) |
D359G |
probably benign |
Het |
Rgsl1 |
T |
A |
1: 153,698,063 (GRCm39) |
I531F |
probably benign |
Het |
Serpina1b |
T |
C |
12: 103,696,614 (GRCm39) |
N265S |
possibly damaging |
Het |
Slc51b |
T |
C |
9: 65,320,212 (GRCm39) |
E85G |
possibly damaging |
Het |
Stk32c |
T |
A |
7: 138,702,809 (GRCm39) |
R195W |
probably damaging |
Het |
Uggt2 |
T |
C |
14: 119,280,022 (GRCm39) |
T819A |
possibly damaging |
Het |
Ugt1a9 |
A |
T |
1: 87,998,898 (GRCm39) |
E116V |
probably benign |
Het |
Zswim5 |
C |
G |
4: 116,832,401 (GRCm39) |
P543A |
probably 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 |
|
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'- GGGCAGGTTTCTCTTTTATCAATCC -3'
(R):5'- TCCCAACATCAGCGGATTCATC -3'
Sequencing Primer
(F):5'- AATCCTCTCTCCTTACCTCTTTGG -3'
(R):5'- CCTCGAAGGGCATTTATAAAACTGG -3'
|
Posted On |
2018-08-01 |