Incidental Mutation 'IGL02185:Ifrd2'
| ID |
283586 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ifrd2
|
| Ensembl Gene |
ENSMUSG00000010048 |
| Gene Name |
interferon-related developmental regulator 2 |
| Synonyms |
1810034A24Rik, SKMc15 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
IGL02185
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
107464917-107470237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107468290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 253
(I253F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010192]
[ENSMUST00000040059]
[ENSMUST00000148440]
[ENSMUST00000149487]
[ENSMUST00000195725]
|
| AlphaFold |
Q9D8U0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010192
AA Change: I253F
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000010192
Gene: ENSMUSG00000010048
AA Change: I253F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
Pfam:IFRD
|
31 |
340 |
7.3e-101 |
PFAM |
|
Pfam:IFRD_C
|
385 |
438 |
1.1e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040059
|
| SMART Domains |
Protein: ENSMUSP00000042667
Gene: ENSMUSG00000036091
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_56
|
25 |
354 |
4.8e-122 |
PFAM |
|
EGF
|
356 |
408 |
2.9e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148440
|
| SMART Domains |
Protein: ENSMUSP00000119499
Gene: ENSMUSG00000036091
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_56
|
21 |
355 |
2.6e-127 |
PFAM |
|
EGF
|
356 |
408 |
2.9e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149487
|
| SMART Domains |
Protein: ENSMUSP00000117845
Gene: ENSMUSG00000036091
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_56
|
21 |
301 |
4.9e-103 |
PFAM |
|
Pfam:Glyco_hydro_56
|
291 |
325 |
6.9e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162027
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192888
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195725
AA Change: H143L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141718
Gene: ENSMUSG00000010048
AA Change: H143L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
Pfam:IFRD
|
32 |
139 |
5.7e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192996
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193153
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193140
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195746
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh5 |
A |
G |
3: 138,156,815 (GRCm39) |
D167G |
probably benign |
Het |
| C9orf72 |
A |
T |
4: 35,197,046 (GRCm39) |
W340R |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,766,471 (GRCm39) |
A359T |
probably benign |
Het |
| Cnnm2 |
T |
C |
19: 46,751,434 (GRCm39) |
V408A |
probably benign |
Het |
| Eloa |
A |
G |
4: 135,740,290 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,772,598 (GRCm39) |
|
probably benign |
Het |
| Hs6st3 |
A |
G |
14: 120,106,296 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,233,108 (GRCm39) |
I1736F |
possibly damaging |
Het |
| Kctd7 |
G |
A |
5: 130,181,299 (GRCm39) |
V241I |
possibly damaging |
Het |
| Lcp1 |
T |
C |
14: 75,466,740 (GRCm39) |
F616L |
possibly damaging |
Het |
| Lyst |
C |
T |
13: 13,835,678 (GRCm39) |
Q1787* |
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 119,845,144 (GRCm39) |
T342S |
possibly damaging |
Het |
| Mcph1 |
A |
G |
8: 18,719,006 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,730,571 (GRCm39) |
H868R |
probably benign |
Het |
| Mefv |
T |
C |
16: 3,533,714 (GRCm39) |
T186A |
probably benign |
Het |
| Nol9 |
T |
A |
4: 152,142,368 (GRCm39) |
I666N |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,597,721 (GRCm39) |
N16K |
probably damaging |
Het |
| Or6c205 |
G |
T |
10: 129,086,904 (GRCm39) |
C167F |
possibly damaging |
Het |
| Or8b8 |
A |
C |
9: 37,809,531 (GRCm39) |
Y277S |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,798,955 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
A |
C |
14: 52,349,685 (GRCm39) |
K24N |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,797,548 (GRCm39) |
T122S |
probably damaging |
Het |
| Sfn |
A |
G |
4: 133,328,636 (GRCm39) |
S149P |
probably benign |
Het |
| Slc27a2 |
T |
A |
2: 126,409,736 (GRCm39) |
V306D |
probably damaging |
Het |
| Slc35a1 |
A |
G |
4: 34,675,584 (GRCm39) |
V81A |
probably benign |
Het |
| Trav21-dv12 |
A |
T |
14: 54,113,955 (GRCm39) |
D25V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,598,878 (GRCm39) |
H11018R |
possibly damaging |
Het |
| Txn1 |
A |
T |
4: 57,950,883 (GRCm39) |
Y49N |
probably benign |
Het |
| Ulk2 |
C |
T |
11: 61,672,886 (GRCm39) |
A903T |
probably damaging |
Het |
| Vmn2r77 |
G |
A |
7: 86,444,360 (GRCm39) |
M4I |
unknown |
Het |
| Vmn2r85 |
G |
T |
10: 130,254,561 (GRCm39) |
L708I |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Vrk2 |
T |
A |
11: 26,485,638 (GRCm39) |
R117* |
probably null |
Het |
| Xpo6 |
A |
T |
7: 125,712,980 (GRCm39) |
|
probably benign |
Het |
| Zdhhc14 |
C |
A |
17: 5,803,157 (GRCm39) |
T420K |
probably benign |
Het |
| Zfp334 |
G |
T |
2: 165,228,869 (GRCm39) |
|
probably benign |
Het |
| Zfp958 |
T |
A |
8: 4,678,990 (GRCm39) |
C338* |
probably null |
Het |
|
| Other mutations in Ifrd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01772:Ifrd2
|
APN |
9 |
107,469,331 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02737:Ifrd2
|
APN |
9 |
107,469,369 (GRCm39) |
missense |
probably benign |
|
|
R0104:Ifrd2
|
UTSW |
9 |
107,465,116 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2072:Ifrd2
|
UTSW |
9 |
107,469,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2850:Ifrd2
|
UTSW |
9 |
107,468,908 (GRCm39) |
splice site |
probably benign |
|
|
R3015:Ifrd2
|
UTSW |
9 |
107,467,221 (GRCm39) |
missense |
probably null |
1.00 |
|
R3727:Ifrd2
|
UTSW |
9 |
107,468,881 (GRCm39) |
nonsense |
probably null |
|
|
R5175:Ifrd2
|
UTSW |
9 |
107,467,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Ifrd2
|
UTSW |
9 |
107,469,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5593:Ifrd2
|
UTSW |
9 |
107,467,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6255:Ifrd2
|
UTSW |
9 |
107,469,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6905:Ifrd2
|
UTSW |
9 |
107,465,089 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R7414:Ifrd2
|
UTSW |
9 |
107,467,370 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7532:Ifrd2
|
UTSW |
9 |
107,469,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8934:Ifrd2
|
UTSW |
9 |
107,469,469 (GRCm39) |
splice site |
probably benign |
|
|
R9369:Ifrd2
|
UTSW |
9 |
107,467,802 (GRCm39) |
nonsense |
probably null |
|
|
R9553:Ifrd2
|
UTSW |
9 |
107,468,285 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Posted On |
2015-04-16 |
Incidental Mutation