Incidental Mutation 'IGL03054:Tnfrsf22'
| ID |
453023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfrsf22
|
| Ensembl Gene |
ENSMUSG00000010751 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 22 |
| Synonyms |
C130035G06Rik, mDcTrailr2, Tnfrh2, 2810028K06Rik, SOBa |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL03054 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
143188543-143203398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143194532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 132
(Y132H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075588]
[ENSMUST00000084396]
[ENSMUST00000146692]
[ENSMUST00000171066]
|
| AlphaFold |
Q9ER62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075588
AA Change: Y132H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075018
Gene: ENSMUSG00000010751
AA Change: Y132H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
|
TNFR
|
48 |
82 |
9.53e-2 |
SMART |
|
TNFR
|
85 |
124 |
3.31e-10 |
SMART |
|
TNFR
|
126 |
165 |
6.48e-4 |
SMART |
|
transmembrane domain
|
177 |
196 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084396
AA Change: Y132H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081432
Gene: ENSMUSG00000010751
AA Change: Y132H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
|
TNFR
|
48 |
82 |
9.53e-2 |
SMART |
|
TNFR
|
85 |
124 |
3.31e-10 |
SMART |
|
TNFR
|
126 |
165 |
6.48e-4 |
SMART |
|
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146692
AA Change: Y132H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119297
Gene: ENSMUSG00000010751
AA Change: Y132H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
34 |
N/A |
INTRINSIC |
|
TNFR
|
48 |
82 |
9.53e-2 |
SMART |
|
TNFR
|
85 |
124 |
3.31e-10 |
SMART |
|
TNFR
|
126 |
165 |
6.48e-4 |
SMART |
|
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171066
|
| SMART Domains |
Protein: ENSMUSP00000126384
Gene: ENSMUSG00000010751
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_H
|
1 |
93 |
4e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207189
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Acsbg3 |
A |
G |
17: 57,193,528 (GRCm39) |
T625A |
possibly damaging |
Het |
| Aloxe3 |
T |
C |
11: 69,020,433 (GRCm39) |
V159A |
possibly damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,734,279 (GRCm39) |
C1134S |
possibly damaging |
Het |
| Ccdc40 |
G |
A |
11: 119,154,027 (GRCm39) |
E1100K |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,493,379 (GRCm39) |
T801S |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Col4a2 |
T |
C |
8: 11,498,270 (GRCm39) |
I1693T |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dab2 |
G |
T |
15: 6,447,707 (GRCm39) |
|
probably benign |
Het |
| Dao |
T |
C |
5: 114,162,963 (GRCm39) |
L345P |
probably damaging |
Het |
| Dis3l |
A |
G |
9: 64,217,722 (GRCm39) |
|
probably null |
Het |
| Egr3 |
C |
T |
14: 70,316,561 (GRCm39) |
T124M |
probably damaging |
Het |
| Gng7 |
G |
T |
10: 80,787,485 (GRCm39) |
F59L |
probably damaging |
Het |
| Itgb4 |
C |
A |
11: 115,891,166 (GRCm39) |
Y1190* |
probably null |
Het |
| Lacc1 |
T |
C |
14: 77,268,355 (GRCm39) |
M319V |
possibly damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,845,881 (GRCm39) |
T417A |
probably damaging |
Het |
| Mier3 |
C |
T |
13: 111,822,848 (GRCm39) |
|
probably benign |
Het |
| Mlxipl |
A |
G |
5: 135,162,110 (GRCm39) |
D569G |
possibly damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mrpl15 |
A |
G |
1: 4,855,794 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,161,334 (GRCm39) |
N2153D |
probably damaging |
Het |
| Nlrp9c |
A |
G |
7: 26,081,701 (GRCm39) |
|
probably null |
Het |
| Npepps |
C |
T |
11: 97,132,614 (GRCm39) |
|
probably benign |
Het |
| Or13a17 |
T |
G |
7: 140,271,623 (GRCm39) |
S268R |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,266,944 (GRCm39) |
H52L |
possibly damaging |
Het |
| Or52z12 |
C |
A |
7: 103,234,047 (GRCm39) |
H273N |
probably benign |
Het |
| Psmc4 |
T |
C |
7: 27,746,605 (GRCm39) |
Y160C |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,360,333 (GRCm39) |
Y131C |
probably damaging |
Het |
| Riok1 |
G |
A |
13: 38,231,291 (GRCm39) |
G183D |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,023 (GRCm39) |
I413F |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,726,104 (GRCm39) |
|
probably benign |
Het |
| Tulp1 |
A |
G |
17: 28,578,287 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
C |
A |
10: 122,961,836 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
G |
T |
18: 63,958,192 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tnfrsf22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Tnfrsf22
|
APN |
7 |
143,197,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01959:Tnfrsf22
|
APN |
7 |
143,197,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02395:Tnfrsf22
|
APN |
7 |
143,197,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02608:Tnfrsf22
|
APN |
7 |
143,198,533 (GRCm39) |
nonsense |
probably null |
|
|
R1987:Tnfrsf22
|
UTSW |
7 |
143,192,126 (GRCm39) |
unclassified |
probably benign |
|
|
R2228:Tnfrsf22
|
UTSW |
7 |
143,198,513 (GRCm39) |
splice site |
probably null |
|
|
R2229:Tnfrsf22
|
UTSW |
7 |
143,198,513 (GRCm39) |
splice site |
probably null |
|
|
R4562:Tnfrsf22
|
UTSW |
7 |
143,203,313 (GRCm39) |
missense |
unknown |
|
|
R4829:Tnfrsf22
|
UTSW |
7 |
143,197,067 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6486:Tnfrsf22
|
UTSW |
7 |
143,194,493 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6903:Tnfrsf22
|
UTSW |
7 |
143,193,641 (GRCm39) |
unclassified |
probably benign |
|
|
R7146:Tnfrsf22
|
UTSW |
7 |
143,194,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7406:Tnfrsf22
|
UTSW |
7 |
143,194,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8108:Tnfrsf22
|
UTSW |
7 |
143,192,110 (GRCm39) |
missense |
unknown |
|
|
R8969:Tnfrsf22
|
UTSW |
7 |
143,192,173 (GRCm39) |
missense |
unknown |
|
|
R9613:Tnfrsf22
|
UTSW |
7 |
143,198,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGAAGTCCTGTACCACC -3'
(R):5'- CTTAGCACTCCGTACATCTGTG -3'
Sequencing Primer
(F):5'- GAAGTCCTGTACCACCCAGAC -3'
(R):5'- CACTCCGTACATCTGTGATGGG -3'
|
| Posted On |
2017-01-24 |
Incidental Mutation