Incidental Mutation 'IGL02468:Ifi47'
| ID |
294637 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ifi47
|
| Ensembl Gene |
ENSMUSG00000078920 |
| Gene Name |
interferon gamma inducible protein 47 |
| Synonyms |
47kDa, IRG-47, Igrd, Iigp4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL02468
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
48967414-48987801 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48986810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 192
(S192R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150940
(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: S192R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041975
Gene: ENSMUSG00000078920
AA Change: S192R
| 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: S192R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104825
Gene: ENSMUSG00000078920
AA Change: S192R
| 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: 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: S192R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214804
AA Change: S192R
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
A |
T |
3: 148,596,116 (GRCm39) |
D73E |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,408,688 (GRCm39) |
Y2525C |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cep89 |
T |
G |
7: 35,102,577 (GRCm39) |
S97A |
probably benign |
Het |
| Clec16a |
T |
A |
16: 10,559,742 (GRCm39) |
I1005N |
probably benign |
Het |
| Cog5 |
T |
C |
12: 31,887,357 (GRCm39) |
|
probably null |
Het |
| Crybg2 |
T |
C |
4: 133,809,898 (GRCm39) |
S1217P |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cytip |
A |
T |
2: 58,024,025 (GRCm39) |
M265K |
probably benign |
Het |
| Ddx60 |
T |
G |
8: 62,411,676 (GRCm39) |
S509R |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,037,195 (GRCm39) |
S3616P |
probably benign |
Het |
| Galnt9 |
T |
C |
5: 110,762,089 (GRCm39) |
F409S |
possibly damaging |
Het |
| Hrh2 |
T |
C |
13: 54,368,828 (GRCm39) |
V268A |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,034,114 (GRCm39) |
Y596H |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,364,348 (GRCm39) |
C1096R |
probably damaging |
Het |
| Marchf1 |
A |
G |
8: 66,871,563 (GRCm39) |
Q109R |
probably damaging |
Het |
| Or2y1d |
A |
T |
11: 49,321,941 (GRCm39) |
I213F |
probably damaging |
Het |
| Or7d9 |
T |
C |
9: 20,197,574 (GRCm39) |
L201P |
probably damaging |
Het |
| Or7g32 |
G |
T |
9: 19,408,473 (GRCm39) |
C143F |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,909,574 (GRCm39) |
V500D |
probably damaging |
Het |
| Pbx3 |
A |
T |
2: 34,114,589 (GRCm39) |
L57H |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,231 (GRCm39) |
V394A |
probably benign |
Het |
| Pogz |
A |
G |
3: 94,786,394 (GRCm39) |
N994S |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,187,040 (GRCm39) |
M406L |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,212,387 (GRCm39) |
S323G |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,121,504 (GRCm39) |
T854A |
probably benign |
Het |
| Puf60 |
A |
C |
15: 75,947,685 (GRCm39) |
|
probably benign |
Het |
| Six2 |
C |
T |
17: 85,992,931 (GRCm39) |
E191K |
possibly damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,497,753 (GRCm39) |
F40L |
probably benign |
Het |
| Tektip1 |
G |
T |
10: 81,201,563 (GRCm39) |
L20I |
possibly damaging |
Het |
| Thsd7a |
A |
G |
6: 12,318,170 (GRCm39) |
V1600A |
probably damaging |
Het |
| Tm4sf19 |
C |
A |
16: 32,226,533 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf1a |
A |
G |
6: 125,334,824 (GRCm39) |
T33A |
probably benign |
Het |
| Troap |
A |
T |
15: 98,973,242 (GRCm39) |
T3S |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,688,389 (GRCm39) |
I3074L |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation