Incidental Mutation 'R3015:Ifrd2'
| ID |
257645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifrd2
|
| Ensembl Gene |
ENSMUSG00000010048 |
| Gene Name |
interferon-related developmental regulator 2 |
| Synonyms |
1810034A24Rik, SKMc15 |
| MMRRC Submission |
040536-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R3015 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107464917-107470237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107467221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 60
(G60S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010192]
[ENSMUST00000010192]
[ENSMUST00000040059]
[ENSMUST00000148440]
[ENSMUST00000149487]
[ENSMUST00000195725]
[ENSMUST00000195725]
|
| AlphaFold |
Q9D8U0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000010192
AA Change: G60S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000010192
Gene: ENSMUSG00000010048
AA Change: G60S
| 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 null
Transcript: ENSMUST00000010192
AA Change: G60S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000010192
Gene: ENSMUSG00000010048
AA Change: G60S
| 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 damaging
Transcript: ENSMUST00000195725
AA Change: G60S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141718
Gene: ENSMUSG00000010048
AA Change: G60S
| 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 damaging
Transcript: ENSMUST00000195725
AA Change: G60S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141718
Gene: ENSMUSG00000010048
AA Change: G60S
| 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: ENSMUST00000194932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193153
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192996
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193140
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195746
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,849,913 (GRCm39) |
H380R |
probably benign |
Het |
| Aff3 |
A |
T |
1: 38,249,649 (GRCm39) |
I486N |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 36,929,611 (GRCm39) |
F76Y |
probably damaging |
Het |
| Cfap44 |
A |
C |
16: 44,230,832 (GRCm39) |
D271A |
probably benign |
Het |
| Dbndd2 |
T |
A |
2: 164,330,270 (GRCm39) |
V34D |
probably damaging |
Het |
| Erc2 |
T |
A |
14: 27,733,732 (GRCm39) |
|
probably null |
Het |
| Fcgbp |
T |
C |
7: 27,774,838 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,417,402 (GRCm39) |
S2036P |
probably damaging |
Het |
| Golph3l |
A |
G |
3: 95,499,024 (GRCm39) |
|
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Ints9 |
T |
A |
14: 65,187,727 (GRCm39) |
W3R |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 66,993,711 (GRCm39) |
E64G |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,465,512 (GRCm39) |
H1321Q |
probably damaging |
Het |
| Matn3 |
A |
C |
12: 9,002,217 (GRCm39) |
Q143P |
probably damaging |
Het |
| Myo18a |
A |
T |
11: 77,749,846 (GRCm39) |
|
probably benign |
Het |
| Nop9 |
T |
C |
14: 55,988,631 (GRCm39) |
S358P |
probably benign |
Het |
| Pard3b |
T |
C |
1: 62,384,037 (GRCm39) |
S801P |
probably damaging |
Het |
| Pax2 |
T |
C |
19: 44,804,463 (GRCm39) |
F268L |
probably damaging |
Het |
| Pik3r1 |
A |
G |
13: 101,823,771 (GRCm39) |
I538T |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,599,107 (GRCm39) |
S214P |
probably benign |
Het |
| Ppme1 |
T |
C |
7: 99,981,084 (GRCm39) |
H352R |
probably damaging |
Het |
| Ppp1r26 |
A |
C |
2: 28,342,314 (GRCm39) |
D648A |
probably damaging |
Het |
| Prom1 |
C |
A |
5: 44,191,733 (GRCm39) |
V337F |
probably damaging |
Het |
| Rapgef4 |
T |
C |
2: 72,028,717 (GRCm39) |
I378T |
probably damaging |
Het |
| Rnf115 |
T |
C |
3: 96,661,675 (GRCm39) |
S43P |
probably damaging |
Het |
| Rnf216 |
A |
G |
5: 143,061,480 (GRCm39) |
|
probably null |
Het |
| Scn7a |
G |
T |
2: 66,530,240 (GRCm39) |
Q702K |
probably benign |
Het |
| Shisal2b |
T |
A |
13: 104,994,899 (GRCm39) |
I83F |
possibly damaging |
Het |
| Slc2a1 |
T |
A |
4: 118,989,340 (GRCm39) |
N13K |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,715,829 (GRCm39) |
I864V |
probably benign |
Het |
| Tspyl3 |
A |
T |
2: 153,066,650 (GRCm39) |
M196K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Umod |
T |
C |
7: 119,071,763 (GRCm39) |
D326G |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 5,980,890 (GRCm39) |
D492G |
unknown |
Het |
| Vash1 |
A |
G |
12: 86,732,194 (GRCm39) |
T126A |
probably benign |
Het |
| Vsig10l |
T |
A |
7: 43,116,881 (GRCm39) |
I574K |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTCACCCTTCACAGGTAGAAG -3'
(R):5'- TTTGTCATCGGCTGAACGGG -3'
Sequencing Primer
(F):5'- CTTCACAGGTAGAAGCTGGTC -3'
(R):5'- AGCAGCCAGAGGTACCTC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation