Incidental Mutation 'IGL02442:Ifrd1'
| ID |
293486 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ifrd1
|
| Ensembl Gene |
ENSMUSG00000001627 |
| Gene Name |
interferon-related developmental regulator 1 |
| Synonyms |
PC4, Ifnl, Tis7 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.683)
|
| Stock # |
IGL02442
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
40253128-40273184 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 40266316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001672]
[ENSMUST00000164354]
[ENSMUST00000165027]
[ENSMUST00000169319]
[ENSMUST00000169926]
[ENSMUST00000171530]
|
| AlphaFold |
P19182 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001672
|
| SMART Domains |
Protein: ENSMUSP00000001672
Gene: ENSMUSG00000001627
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
Pfam:IFRD
|
40 |
345 |
1.1e-115 |
PFAM |
|
Pfam:IFRD_C
|
390 |
443 |
6.7e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164354
|
| SMART Domains |
Protein: ENSMUSP00000130846
Gene: ENSMUSG00000001627
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IFRD
|
1 |
87 |
1.1e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165027
|
| SMART Domains |
Protein: ENSMUSP00000133028
Gene: ENSMUSG00000001627
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IFRD
|
1 |
119 |
8.6e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169319
|
| SMART Domains |
Protein: ENSMUSP00000130824
Gene: ENSMUSG00000001627
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IFRD
|
1 |
100 |
8.9e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169926
|
| SMART Domains |
Protein: ENSMUSP00000127673
Gene: ENSMUSG00000001627
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IFRD
|
1 |
138 |
5.6e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170752
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171530
|
| SMART Domains |
Protein: ENSMUSP00000128635
Gene: ENSMUSG00000001627
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
Pfam:IFRD
|
40 |
137 |
1.8e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171553
|
| SMART Domains |
Protein: ENSMUSP00000127954
Gene: ENSMUSG00000001627
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
transmembrane domain
|
84 |
106 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygous null mice display impaired muscle regeneration and myogenic differentiation and decreased body weight in older mice. [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 |
|---|
| Adap2 |
A |
G |
11: 80,068,032 (GRCm39) |
E348G |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,981,380 (GRCm39) |
G888D |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cfap97d1 |
T |
C |
11: 101,881,652 (GRCm39) |
V116A |
probably benign |
Het |
| Csde1 |
T |
C |
3: 102,962,135 (GRCm39) |
C649R |
probably benign |
Het |
| Cym |
A |
C |
3: 107,121,601 (GRCm39) |
D230E |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,009,835 (GRCm39) |
I1911N |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,403,360 (GRCm39) |
H37R |
probably benign |
Het |
| Ggt6 |
T |
C |
11: 72,327,632 (GRCm39) |
V146A |
possibly damaging |
Het |
| Glud1 |
T |
A |
14: 34,057,395 (GRCm39) |
L54* |
probably null |
Het |
| Grk6 |
A |
G |
13: 55,606,750 (GRCm39) |
|
probably benign |
Het |
| Gsta4 |
G |
A |
9: 78,116,447 (GRCm39) |
V219I |
probably benign |
Het |
| Gucy1a2 |
G |
A |
9: 3,865,385 (GRCm39) |
V620M |
probably damaging |
Het |
| Hspe1 |
T |
C |
1: 55,128,201 (GRCm39) |
|
probably benign |
Het |
| Icmt |
T |
C |
4: 152,383,173 (GRCm39) |
V76A |
possibly damaging |
Het |
| Lgals12 |
T |
C |
19: 7,584,019 (GRCm39) |
|
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,902,610 (GRCm39) |
|
probably benign |
Het |
| Map1b |
A |
T |
13: 99,644,706 (GRCm39) |
W66R |
probably damaging |
Het |
| Matn3 |
T |
A |
12: 9,017,678 (GRCm39) |
C443* |
probably null |
Het |
| Mup8 |
T |
A |
4: 60,219,695 (GRCm39) |
R191W |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,551,811 (GRCm39) |
K140R |
probably benign |
Het |
| Ndfip1 |
C |
T |
18: 38,580,789 (GRCm39) |
S66L |
probably damaging |
Het |
| Neu1 |
A |
G |
17: 35,153,445 (GRCm39) |
I323V |
probably benign |
Het |
| Nup205 |
A |
T |
6: 35,167,003 (GRCm39) |
T341S |
probably benign |
Het |
| Or4f7 |
G |
A |
2: 111,644,336 (GRCm39) |
T245I |
probably benign |
Het |
| Or5b112 |
T |
A |
19: 13,319,484 (GRCm39) |
C121S |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,351 (GRCm39) |
N139K |
probably benign |
Het |
| Ovch2 |
T |
A |
7: 107,395,755 (GRCm39) |
I88F |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,784,200 (GRCm39) |
S249T |
probably benign |
Het |
| Plekhg3 |
A |
T |
12: 76,625,127 (GRCm39) |
Q1324L |
probably benign |
Het |
| Ppara |
T |
A |
15: 85,685,344 (GRCm39) |
V431E |
probably benign |
Het |
| Prkaa1 |
T |
G |
15: 5,206,369 (GRCm39) |
H408Q |
probably damaging |
Het |
| Sap25 |
T |
A |
5: 137,640,257 (GRCm39) |
N108K |
probably benign |
Het |
| Setd5 |
A |
C |
6: 113,087,341 (GRCm39) |
I81L |
possibly damaging |
Het |
| Sinhcaf |
A |
T |
6: 148,830,005 (GRCm39) |
|
probably null |
Het |
| Sri |
T |
A |
5: 8,112,411 (GRCm39) |
M78K |
probably damaging |
Het |
| Tyro3 |
A |
G |
2: 119,639,349 (GRCm39) |
N352S |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 38,038,145 (GRCm39) |
E332V |
possibly damaging |
Het |
| Vmn2r19 |
G |
T |
6: 123,286,621 (GRCm39) |
V85F |
possibly damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,315,656 (GRCm39) |
V721D |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,646,080 (GRCm39) |
M483V |
probably benign |
Het |
| Zfp786 |
T |
A |
6: 47,798,301 (GRCm39) |
Q212H |
probably benign |
Het |
|
| Other mutations in Ifrd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02186:Ifrd1
|
APN |
12 |
40,264,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02942:Ifrd1
|
APN |
12 |
40,267,375 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03119:Ifrd1
|
APN |
12 |
40,262,333 (GRCm39) |
missense |
probably null |
0.03 |
|
R0107:Ifrd1
|
UTSW |
12 |
40,264,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0138:Ifrd1
|
UTSW |
12 |
40,257,129 (GRCm39) |
splice site |
probably benign |
|
|
R0390:Ifrd1
|
UTSW |
12 |
40,264,093 (GRCm39) |
splice site |
probably null |
|
|
R0627:Ifrd1
|
UTSW |
12 |
40,256,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2061:Ifrd1
|
UTSW |
12 |
40,263,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5779:Ifrd1
|
UTSW |
12 |
40,253,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5915:Ifrd1
|
UTSW |
12 |
40,263,095 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6000:Ifrd1
|
UTSW |
12 |
40,266,243 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6539:Ifrd1
|
UTSW |
12 |
40,253,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Ifrd1
|
UTSW |
12 |
40,253,913 (GRCm39) |
splice site |
probably null |
|
|
R6800:Ifrd1
|
UTSW |
12 |
40,273,157 (GRCm39) |
unclassified |
probably benign |
|
|
R8117:Ifrd1
|
UTSW |
12 |
40,262,350 (GRCm39) |
missense |
probably benign |
|
|
R8795:Ifrd1
|
UTSW |
12 |
40,263,076 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9345:Ifrd1
|
UTSW |
12 |
40,267,458 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9507:Ifrd1
|
UTSW |
12 |
40,267,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation