Incidental Mutation 'IGL00508:Ifi47'
ID |
4611 |
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: 0.099)
|
Stock # |
IGL00508
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
48967414-48987801 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 48986241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 3
(Q3*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149108
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046704]
[ENSMUST00000056759]
[ENSMUST00000102785]
[ENSMUST00000109202]
[ENSMUST00000152914]
[ENSMUST00000179282]
[ENSMUST00000203149]
[ENSMUST00000214804]
[ENSMUST00000203810]
[ENSMUST00000213728]
|
AlphaFold |
Q61635 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046704
AA Change: Q3*
|
SMART Domains |
Protein: ENSMUSP00000041975 Gene: ENSMUSG00000078920 AA Change: Q3*
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 null
Transcript: ENSMUST00000109202
AA Change: Q3*
|
SMART Domains |
Protein: ENSMUSP00000104825 Gene: ENSMUSG00000078920 AA Change: Q3*
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 null
Transcript: ENSMUST00000152914
AA Change: Q3*
|
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 null
Transcript: ENSMUST00000214804
AA Change: Q3*
|
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 null
Transcript: ENSMUST00000213728
AA Change: Q3*
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
C |
13: 81,654,306 (GRCm39) |
D2188E |
probably damaging |
Het |
Atrx |
A |
G |
X: 104,867,405 (GRCm39) |
S2026P |
probably damaging |
Het |
Cacna1b |
A |
C |
2: 24,547,301 (GRCm39) |
|
probably null |
Het |
Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
Cfap57 |
C |
T |
4: 118,438,367 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
G |
2: 91,436,601 (GRCm39) |
V1567G |
probably damaging |
Het |
Cyp2c38 |
A |
T |
19: 39,449,169 (GRCm39) |
Y61* |
probably null |
Het |
D130052B06Rik |
A |
G |
11: 33,549,402 (GRCm39) |
E7G |
unknown |
Het |
Dhx38 |
A |
G |
8: 110,283,566 (GRCm39) |
L527P |
possibly damaging |
Het |
Dnaaf5 |
A |
G |
5: 139,163,701 (GRCm39) |
N653D |
probably benign |
Het |
Dnah8 |
T |
G |
17: 31,074,904 (GRCm39) |
M4541R |
probably damaging |
Het |
Dpyd |
A |
T |
3: 118,858,636 (GRCm39) |
T617S |
probably benign |
Het |
Fpr2 |
A |
T |
17: 18,113,034 (GRCm39) |
N10I |
probably damaging |
Het |
Frmd4a |
A |
T |
2: 4,599,545 (GRCm39) |
K524* |
probably null |
Het |
Gpr45 |
C |
T |
1: 43,071,452 (GRCm39) |
P32S |
possibly damaging |
Het |
H2-Eb2 |
A |
T |
17: 34,553,341 (GRCm39) |
I176F |
probably damaging |
Het |
Hcrtr1 |
T |
A |
4: 130,031,062 (GRCm39) |
N74I |
probably damaging |
Het |
Krt8 |
T |
A |
15: 101,906,460 (GRCm39) |
M350L |
probably benign |
Het |
Lilra6 |
A |
G |
7: 3,914,553 (GRCm39) |
S533P |
probably benign |
Het |
Map1b |
A |
T |
13: 99,565,741 (GRCm39) |
S2327T |
unknown |
Het |
Mcoln3 |
T |
A |
3: 145,839,683 (GRCm39) |
I345N |
probably damaging |
Het |
Mettl3 |
C |
A |
14: 52,532,436 (GRCm39) |
|
probably benign |
Het |
Mgat4a |
G |
A |
1: 37,488,204 (GRCm39) |
R472* |
probably null |
Het |
Micall1 |
A |
G |
15: 79,014,768 (GRCm39) |
K715E |
probably damaging |
Het |
Pak1 |
G |
T |
7: 97,503,775 (GRCm39) |
G37C |
probably benign |
Het |
Pomt2 |
T |
G |
12: 87,166,401 (GRCm39) |
H426P |
probably damaging |
Het |
Pou2f3 |
G |
A |
9: 43,051,258 (GRCm39) |
P155S |
probably benign |
Het |
Psg25 |
A |
G |
7: 18,263,656 (GRCm39) |
Y56H |
probably benign |
Het |
Rab9 |
G |
T |
X: 165,240,860 (GRCm39) |
Y150* |
probably null |
Het |
Rhox2g |
T |
A |
X: 36,824,463 (GRCm39) |
N152I |
probably damaging |
Het |
Sema6d |
T |
C |
2: 124,498,844 (GRCm39) |
|
probably benign |
Het |
Simc1 |
C |
A |
13: 54,672,989 (GRCm39) |
Q446K |
probably benign |
Het |
Svs5 |
G |
T |
2: 164,078,962 (GRCm39) |
T315K |
possibly damaging |
Het |
Syt9 |
C |
T |
7: 107,024,574 (GRCm39) |
R156* |
probably null |
Het |
Tmem260 |
A |
T |
14: 48,746,578 (GRCm39) |
Y618F |
probably damaging |
Het |
Wdr44 |
A |
G |
X: 23,666,783 (GRCm39) |
I719V |
possibly damaging |
Het |
Zfp518a |
T |
G |
19: 40,901,914 (GRCm39) |
I614M |
probably damaging |
Het |
|
Other mutations in Ifi47 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-04-20 |