Incidental Mutation 'R3727:Ifrd2'
| ID |
270838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifrd2
|
| Ensembl Gene |
ENSMUSG00000010048 |
| Gene Name |
interferon-related developmental regulator 2 |
| Synonyms |
1810034A24Rik, SKMc15 |
| MMRRC Submission |
040718-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R3727 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107464917-107470237 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 107468881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 40
(R40*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010192]
[ENSMUST00000040059]
[ENSMUST00000148440]
[ENSMUST00000195725]
|
| AlphaFold |
Q9D8U0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000010192
AA Change: R333*
|
| SMART Domains |
Protein: ENSMUSP00000010192
Gene: ENSMUSG00000010048
AA Change: R333*
| 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 |
noncoding transcript
Transcript: ENSMUST00000162027
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192996
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000195746
AA Change: R40*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193153
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194932
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193140
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
C |
T |
15: 72,985,706 (GRCm39) |
V630M |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,208,395 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a1 |
T |
A |
11: 100,921,246 (GRCm39) |
S243T |
probably benign |
Het |
| BC035044 |
C |
A |
6: 128,867,822 (GRCm39) |
G37* |
probably null |
Het |
| C3 |
G |
T |
17: 57,514,379 (GRCm39) |
N1435K |
possibly damaging |
Het |
| Caly |
T |
C |
7: 139,650,417 (GRCm39) |
E175G |
probably damaging |
Het |
| Ccng2 |
T |
C |
5: 93,422,810 (GRCm39) |
F330S |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,822,075 (GRCm39) |
A1157T |
probably benign |
Het |
| Cyp2c38 |
A |
G |
19: 39,380,739 (GRCm39) |
|
probably benign |
Het |
| Cypt1 |
T |
A |
X: 16,389,674 (GRCm39) |
L128* |
probably null |
Het |
| Dmgdh |
A |
G |
13: 93,828,575 (GRCm39) |
N239D |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 30,958,622 (GRCm39) |
Q2155* |
probably null |
Het |
| Dpp3 |
A |
G |
19: 4,973,213 (GRCm39) |
I127T |
probably benign |
Het |
| Eps15 |
G |
T |
4: 109,227,882 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,649,734 (GRCm39) |
D388G |
probably damaging |
Het |
| Flt3 |
C |
A |
5: 147,291,733 (GRCm39) |
R572S |
probably damaging |
Het |
| Gm44501 |
T |
C |
17: 40,887,506 (GRCm39) |
F8S |
unknown |
Het |
| Hormad2 |
C |
A |
11: 4,358,598 (GRCm39) |
G270C |
probably benign |
Het |
| Ina |
G |
A |
19: 47,004,158 (GRCm39) |
R322H |
possibly damaging |
Het |
| Kif13b |
A |
G |
14: 65,003,197 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,340,773 (GRCm39) |
N1034S |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,353,104 (GRCm39) |
E1770V |
probably damaging |
Het |
| Mpi |
T |
C |
9: 57,452,132 (GRCm39) |
I381M |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nt5c |
C |
T |
11: 115,381,474 (GRCm39) |
W185* |
probably null |
Het |
| Or2j3 |
A |
T |
17: 38,616,310 (GRCm39) |
I14N |
possibly damaging |
Het |
| Or2y1e |
G |
A |
11: 49,218,622 (GRCm39) |
R128H |
probably benign |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pdzrn3 |
T |
A |
6: 101,133,906 (GRCm39) |
D441V |
probably damaging |
Het |
| Rab42 |
A |
G |
4: 132,029,964 (GRCm39) |
M86T |
probably benign |
Het |
| Slc52a3 |
C |
T |
2: 151,847,701 (GRCm39) |
P270S |
probably benign |
Het |
| Stpg2 |
T |
C |
3: 139,004,257 (GRCm39) |
F278S |
probably damaging |
Het |
| Styxl2 |
G |
A |
1: 165,927,075 (GRCm39) |
R846C |
probably damaging |
Het |
| Tmem240 |
T |
C |
4: 155,824,235 (GRCm39) |
|
probably benign |
Het |
| Vmn2r22 |
A |
G |
6: 123,627,584 (GRCm39) |
L4P |
possibly damaging |
Het |
| Vmn2r95 |
C |
T |
17: 18,661,744 (GRCm39) |
Q497* |
probably null |
Het |
| Wnk1 |
T |
C |
6: 119,969,414 (GRCm39) |
H347R |
probably damaging |
Het |
| Zmym2 |
A |
T |
14: 57,156,806 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGAGGTGAACTGCCTGC -3'
(R):5'- TTCACCACCCTGTAGAGGAGAG -3'
Sequencing Primer
(F):5'- CAGTGAGTGGAAGAAAAGCTCTG -3'
(R):5'- CGGCTTGGGGATACATTTT -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation