Incidental Mutation 'R7971:Ifi206'
| ID |
650588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifi206
|
| Ensembl Gene |
ENSMUSG00000037849 |
| Gene Name |
interferon activated gene 206 |
| Synonyms |
Pyblhin-C, Gm4955 |
| MMRRC Submission |
046014-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R7971 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173296051-173318607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 173298976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 877
(W877R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160565]
[ENSMUST00000169797]
|
| AlphaFold |
G3UZV2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000160565
AA Change: W877R
|
| SMART Domains |
Protein: ENSMUSP00000134646
Gene: ENSMUSG00000037849
AA Change: W877R
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
84 |
5.7e-21 |
SMART |
|
low complexity region
|
97 |
108 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
154 |
349 |
6.25e-15 |
PROSPERO |
|
internal_repeat_1
|
342 |
575 |
6.25e-15 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169797
|
| SMART Domains |
Protein: ENSMUSP00000133809
Gene: ENSMUSG00000037849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HIN
|
1 |
142 |
8.8e-66 |
PFAM |
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530401A14Rik |
G |
A |
11: 81,754,526 (GRCm39) |
A16T |
unknown |
Het |
| Abcc1 |
T |
A |
16: 14,266,443 (GRCm39) |
D880E |
probably benign |
Het |
| Adamts2 |
G |
A |
11: 50,647,523 (GRCm39) |
V299I |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,186,578 (GRCm39) |
S1331P |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,605,661 (GRCm39) |
L1968S |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,976,409 (GRCm39) |
M277L |
possibly damaging |
Het |
| Cd80 |
T |
A |
16: 38,294,391 (GRCm39) |
Y91* |
probably null |
Het |
| Cfap46 |
A |
G |
7: 139,215,043 (GRCm39) |
S1561P |
unknown |
Het |
| Clasp1 |
C |
T |
1: 118,449,559 (GRCm39) |
R647W |
probably damaging |
Het |
| Creld1 |
T |
C |
6: 113,468,933 (GRCm39) |
V299A |
probably benign |
Het |
| Csk |
C |
A |
9: 57,535,970 (GRCm39) |
G260V |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dgkg |
G |
A |
16: 22,388,966 (GRCm39) |
Q403* |
probably null |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,119 (GRCm39) |
D314G |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,376,499 (GRCm39) |
L1428Q |
probably damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,537,703 (GRCm39) |
V293A |
probably benign |
Het |
| Gm4353 |
C |
A |
7: 115,682,747 (GRCm39) |
S278I |
possibly damaging |
Het |
| Hmgb2 |
A |
G |
8: 57,966,168 (GRCm39) |
M75V |
possibly damaging |
Het |
| Hoxa4 |
G |
A |
6: 52,168,711 (GRCm39) |
|
probably benign |
Het |
| Ifi44 |
T |
A |
3: 151,454,857 (GRCm39) |
I123F |
possibly damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,908,353 (GRCm39) |
Y323C |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,351,631 (GRCm39) |
T858A |
probably benign |
Het |
| Mest |
T |
A |
6: 30,740,734 (GRCm39) |
I38N |
|
Het |
| Npy2r |
A |
T |
3: 82,448,175 (GRCm39) |
I200N |
probably damaging |
Het |
| Olfm4 |
T |
A |
14: 80,259,240 (GRCm39) |
M496K |
probably damaging |
Het |
| Olfml2a |
A |
T |
2: 38,831,794 (GRCm39) |
|
probably null |
Het |
| Omd |
A |
T |
13: 49,743,730 (GRCm39) |
H260L |
probably benign |
Het |
| Or8c16 |
G |
T |
9: 38,130,843 (GRCm39) |
L238F |
probably benign |
Het |
| Pigk |
C |
A |
3: 152,450,176 (GRCm39) |
Q274K |
probably benign |
Het |
| Pmpca |
G |
A |
2: 26,283,164 (GRCm39) |
G352R |
probably damaging |
Het |
| Prex1 |
C |
T |
2: 166,423,859 (GRCm39) |
S1181N |
probably damaging |
Het |
| Prkg2 |
A |
T |
5: 99,079,873 (GRCm39) |
F762Y |
probably damaging |
Het |
| Rcc1l |
A |
G |
5: 134,194,208 (GRCm39) |
S250P |
probably damaging |
Het |
| Rufy1 |
A |
T |
11: 50,312,498 (GRCm39) |
F152Y |
probably damaging |
Het |
| Scaf1 |
T |
A |
7: 44,652,965 (GRCm39) |
T1179S |
unknown |
Het |
| Sh3d19 |
A |
G |
3: 86,022,103 (GRCm39) |
D511G |
probably benign |
Het |
| Shroom3 |
C |
T |
5: 93,098,933 (GRCm39) |
S1471L |
probably damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,248,695 (GRCm39) |
L484P |
probably damaging |
Het |
| Slc35a1 |
T |
C |
4: 34,664,161 (GRCm39) |
D319G |
probably benign |
Het |
| Synm |
T |
C |
7: 67,384,983 (GRCm39) |
E893G |
possibly damaging |
Het |
| Tatdn2 |
A |
G |
6: 113,687,235 (GRCm39) |
|
probably null |
Het |
| Thada |
T |
A |
17: 84,580,197 (GRCm39) |
D1419V |
possibly damaging |
Het |
| Tmem87b |
A |
G |
2: 128,692,250 (GRCm39) |
D535G |
probably null |
Het |
| Tnfrsf25 |
A |
C |
4: 152,204,193 (GRCm39) |
Q378P |
probably damaging |
Het |
| Trim34a |
T |
C |
7: 103,897,025 (GRCm39) |
C30R |
probably damaging |
Het |
| Triml2 |
T |
C |
8: 43,643,313 (GRCm39) |
S212P |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
|
| Other mutations in Ifi206 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01509:Ifi206
|
APN |
1 |
173,313,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02044:Ifi206
|
APN |
1 |
173,308,557 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02118:Ifi206
|
APN |
1 |
173,309,334 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02476:Ifi206
|
APN |
1 |
173,309,132 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02824:Ifi206
|
APN |
1 |
173,309,438 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03375:Ifi206
|
APN |
1 |
173,308,344 (GRCm39) |
missense |
probably benign |
0.06 |
|
PIT4142001:Ifi206
|
UTSW |
1 |
173,308,730 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0069:Ifi206
|
UTSW |
1 |
173,314,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0741:Ifi206
|
UTSW |
1 |
173,301,315 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1572:Ifi206
|
UTSW |
1 |
173,314,419 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1742:Ifi206
|
UTSW |
1 |
173,309,537 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4109:Ifi206
|
UTSW |
1 |
173,308,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4707:Ifi206
|
UTSW |
1 |
173,308,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4783:Ifi206
|
UTSW |
1 |
173,308,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4785:Ifi206
|
UTSW |
1 |
173,308,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4805:Ifi206
|
UTSW |
1 |
173,308,952 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4918:Ifi206
|
UTSW |
1 |
173,309,610 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5043:Ifi206
|
UTSW |
1 |
173,314,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5080:Ifi206
|
UTSW |
1 |
173,301,414 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5419:Ifi206
|
UTSW |
1 |
173,308,797 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5420:Ifi206
|
UTSW |
1 |
173,308,599 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5777:Ifi206
|
UTSW |
1 |
173,308,928 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5988:Ifi206
|
UTSW |
1 |
173,308,906 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6772:Ifi206
|
UTSW |
1 |
173,308,773 (GRCm39) |
missense |
unknown |
|
|
R6782:Ifi206
|
UTSW |
1 |
173,308,923 (GRCm39) |
missense |
unknown |
|
|
R6806:Ifi206
|
UTSW |
1 |
173,309,137 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7042:Ifi206
|
UTSW |
1 |
173,308,808 (GRCm39) |
missense |
|
|
|
R7091:Ifi206
|
UTSW |
1 |
173,301,441 (GRCm39) |
missense |
unknown |
|
|
R7292:Ifi206
|
UTSW |
1 |
173,301,428 (GRCm39) |
missense |
unknown |
|
|
R7429:Ifi206
|
UTSW |
1 |
173,308,157 (GRCm39) |
missense |
|
|
|
R7499:Ifi206
|
UTSW |
1 |
173,309,607 (GRCm39) |
missense |
|
|
|
R7772:Ifi206
|
UTSW |
1 |
173,308,640 (GRCm39) |
missense |
|
|
|
R7853:Ifi206
|
UTSW |
1 |
173,299,100 (GRCm39) |
nonsense |
probably null |
|
|
R8079:Ifi206
|
UTSW |
1 |
173,308,724 (GRCm39) |
missense |
|
|
|
R8205:Ifi206
|
UTSW |
1 |
173,309,450 (GRCm39) |
missense |
|
|
|
R8289:Ifi206
|
UTSW |
1 |
173,308,032 (GRCm39) |
missense |
|
|
|
R8390:Ifi206
|
UTSW |
1 |
173,308,511 (GRCm39) |
missense |
|
|
|
R8500:Ifi206
|
UTSW |
1 |
173,314,311 (GRCm39) |
missense |
|
|
|
R8712:Ifi206
|
UTSW |
1 |
173,308,074 (GRCm39) |
missense |
|
|
|
R8753:Ifi206
|
UTSW |
1 |
173,301,223 (GRCm39) |
missense |
unknown |
|
|
R8875:Ifi206
|
UTSW |
1 |
173,301,353 (GRCm39) |
missense |
unknown |
|
|
R9128:Ifi206
|
UTSW |
1 |
173,299,022 (GRCm39) |
missense |
unknown |
|
|
R9369:Ifi206
|
UTSW |
1 |
173,301,489 (GRCm39) |
missense |
unknown |
|
|
R9569:Ifi206
|
UTSW |
1 |
173,314,209 (GRCm39) |
missense |
|
|
|
R9676:Ifi206
|
UTSW |
1 |
173,308,718 (GRCm39) |
missense |
|
|
|
R9695:Ifi206
|
UTSW |
1 |
173,301,249 (GRCm39) |
missense |
unknown |
|
|
R9776:Ifi206
|
UTSW |
1 |
173,308,075 (GRCm39) |
missense |
|
|
|
X0052:Ifi206
|
UTSW |
1 |
173,309,535 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1088:Ifi206
|
UTSW |
1 |
173,301,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ifi206
|
UTSW |
1 |
173,309,614 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATAGTGAGTTCCAGGACAGCC -3'
(R):5'- CTGGCACATTCCTCAAAAGATG -3'
Sequencing Primer
(F):5'- TCCAGGACAGCCAGGAC -3'
(R):5'- AAGTGGTGGTCTACGGA -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation