Incidental Mutation 'IGL01772:Ifrd2'
| ID |
153698 |
| 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 # |
IGL01772
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
107464917-107470237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107469331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 360
(S360G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010192]
[ENSMUST00000040059]
[ENSMUST00000195725]
|
| AlphaFold |
Q9D8U0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010192
AA Change: S360G
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000010192
Gene: ENSMUSG00000010048
AA Change: S360G
| 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 |
noncoding transcript
Transcript: ENSMUST00000162027
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192996
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000193140
AA Change: S16G
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000195746
AA Change: S67G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195725
|
| SMART Domains |
Protein: ENSMUSP00000141718
Gene: ENSMUSG00000010048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
Pfam:IFRD
|
32 |
139 |
5.7e-28 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
C |
T |
11: 58,313,710 (GRCm39) |
P113S |
probably benign |
Het |
| Ano2 |
T |
C |
6: 126,013,821 (GRCm39) |
Y881H |
probably damaging |
Het |
| Coro2b |
G |
T |
9: 62,333,090 (GRCm39) |
P131T |
probably damaging |
Het |
| Glra3 |
A |
G |
8: 56,542,090 (GRCm39) |
I278V |
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,507,890 (GRCm39) |
D392G |
probably benign |
Het |
| Kdelr3 |
A |
T |
15: 79,407,121 (GRCm39) |
|
probably benign |
Het |
| Mtdh |
T |
A |
15: 34,140,027 (GRCm39) |
S345R |
probably damaging |
Het |
| Mtrex |
A |
G |
13: 113,027,859 (GRCm39) |
F667S |
probably benign |
Het |
| Ncor1 |
G |
A |
11: 62,240,173 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,281,075 (GRCm39) |
V110D |
probably damaging |
Het |
| Nlk |
T |
A |
11: 78,480,201 (GRCm39) |
H256L |
probably damaging |
Het |
| Or52w1 |
A |
T |
7: 105,017,641 (GRCm39) |
D36V |
probably benign |
Het |
| Or52z13 |
T |
A |
7: 103,247,120 (GRCm39) |
I199N |
probably benign |
Het |
| Or8c16 |
A |
T |
9: 38,130,905 (GRCm39) |
Y262F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,946,637 (GRCm39) |
|
probably benign |
Het |
| Ptprn |
A |
G |
1: 75,228,914 (GRCm39) |
Y834H |
probably damaging |
Het |
| Rbfox3 |
G |
T |
11: 118,387,797 (GRCm39) |
A241E |
probably damaging |
Het |
| Tarbp1 |
G |
A |
8: 127,173,970 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,598,055 (GRCm39) |
D19619E |
probably damaging |
Het |
| Unc13d |
C |
A |
11: 115,967,358 (GRCm39) |
E45D |
possibly damaging |
Het |
| Vil1 |
A |
G |
1: 74,454,278 (GRCm39) |
I14V |
probably benign |
Het |
|
| Other mutations in Ifrd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02185:Ifrd2
|
APN |
9 |
107,468,290 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2014-02-04 |
Incidental Mutation