Incidental Mutation 'IGL02737:Ifrd2'
| ID |
305690 |
| 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 # |
IGL02737
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
107464917-107470237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107469369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 372
(D372E)
|
| 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: D372E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000010192
Gene: ENSMUSG00000010048
AA Change: D372E
| 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: D28E
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000195746
AA Change: D79E
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,566,904 (GRCm39) |
H434Q |
possibly damaging |
Het |
| 5430401F13Rik |
A |
T |
6: 131,529,555 (GRCm39) |
I50L |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,981,957 (GRCm39) |
M1080I |
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,884,577 (GRCm39) |
K540R |
probably benign |
Het |
| Aplp2 |
T |
C |
9: 31,064,712 (GRCm39) |
M585V |
probably benign |
Het |
| C3 |
A |
G |
17: 57,511,281 (GRCm39) |
L1607P |
probably benign |
Het |
| C6 |
A |
G |
15: 4,826,396 (GRCm39) |
K660E |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,549,419 (GRCm39) |
T1329A |
probably benign |
Het |
| Ccdc141 |
T |
A |
2: 76,888,268 (GRCm39) |
N499I |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,869,560 (GRCm39) |
D762G |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,428,394 (GRCm39) |
R746G |
possibly damaging |
Het |
| Cps1 |
A |
T |
1: 67,187,933 (GRCm39) |
Q198L |
probably benign |
Het |
| Cstpp1 |
T |
A |
2: 91,135,142 (GRCm39) |
Q9L |
probably damaging |
Het |
| Eri3 |
T |
C |
4: 117,422,057 (GRCm39) |
F112L |
probably damaging |
Het |
| Fam180a |
C |
A |
6: 35,290,488 (GRCm39) |
R165L |
probably benign |
Het |
| Fkbp10 |
A |
C |
11: 100,313,481 (GRCm39) |
I252L |
probably benign |
Het |
| Gtf2f1 |
G |
T |
17: 57,310,918 (GRCm39) |
Q410K |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,439,579 (GRCm39) |
Y5535C |
probably damaging |
Het |
| Il3ra |
A |
G |
14: 14,350,760 (GRCm38) |
N165S |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,957,183 (GRCm39) |
N2164S |
probably benign |
Het |
| Krtap19-9a |
A |
G |
16: 88,721,099 (GRCm39) |
|
noncoding transcript |
Het |
| Nopchap1 |
T |
A |
10: 83,200,309 (GRCm39) |
M90K |
probably damaging |
Het |
| Or12d13 |
T |
A |
17: 37,647,664 (GRCm39) |
H153L |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,764,177 (GRCm39) |
S4217P |
unknown |
Het |
| Ppfibp1 |
G |
A |
6: 146,928,806 (GRCm39) |
V798I |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,170,775 (GRCm39) |
R165* |
probably null |
Het |
| Ptges |
T |
C |
2: 30,782,698 (GRCm39) |
Y118C |
probably damaging |
Het |
| Rab11fip5 |
C |
A |
6: 85,325,540 (GRCm39) |
G289W |
probably damaging |
Het |
| Rfc1 |
T |
C |
5: 65,468,506 (GRCm39) |
D69G |
possibly damaging |
Het |
| Scube1 |
A |
G |
15: 83,606,044 (GRCm39) |
|
probably benign |
Het |
| Slc5a6 |
G |
A |
5: 31,194,511 (GRCm39) |
P565L |
probably benign |
Het |
| Sncaip |
C |
A |
18: 53,040,128 (GRCm39) |
T774K |
probably benign |
Het |
| Spata31f1a |
C |
A |
4: 42,849,431 (GRCm39) |
L908F |
possibly damaging |
Het |
| Specc1l |
G |
A |
10: 75,082,158 (GRCm39) |
S535N |
probably damaging |
Het |
| Tbk1 |
C |
T |
10: 121,395,767 (GRCm39) |
G442E |
probably null |
Het |
| Thoc7 |
A |
T |
14: 13,953,443 (GRCm38) |
M78K |
possibly damaging |
Het |
| Usp15 |
A |
G |
10: 122,966,937 (GRCm39) |
F461S |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,911 (GRCm39) |
I308L |
possibly damaging |
Het |
| Zhx2 |
C |
A |
15: 57,685,663 (GRCm39) |
T344N |
probably damaging |
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 |
|
IGL02185:Ifrd2
|
APN |
9 |
107,468,290 (GRCm39) |
missense |
probably benign |
0.01 |
|
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