Incidental Mutation 'IGL02837:Tnfrsf8'
| ID |
391903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfrsf8
|
| Ensembl Gene |
ENSMUSG00000028602 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 8 |
| Synonyms |
CD30 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL02837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
144993707-145041734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144995568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 497
(E497G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030339]
[ENSMUST00000123027]
|
| AlphaFold |
Q60846 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030339
AA Change: E497G
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000030339
Gene: ENSMUSG00000028602
AA Change: E497G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
TNFR
|
29 |
65 |
2.33e0 |
SMART |
|
TNFR
|
69 |
105 |
5.51e-7 |
SMART |
|
TNFR
|
107 |
146 |
2.87e-5 |
SMART |
|
low complexity region
|
149 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
288 |
310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123027
|
| SMART Domains |
Protein: ENSMUSP00000118714
Gene: ENSMUSG00000028602
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
TNFR
|
29 |
65 |
2.33e0 |
SMART |
|
TNFR
|
69 |
105 |
5.51e-7 |
SMART |
|
TNFR
|
107 |
146 |
2.87e-5 |
SMART |
|
low complexity region
|
149 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
313 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display an enlarged thymus, impaired activation-induced death of double-positive thymocytes after CD3 cross-linking, and decreased susceptibility to graft versus host disease. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
T |
17: 36,268,473 (GRCm39) |
V786I |
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,881,432 (GRCm39) |
N803S |
probably benign |
Het |
| Ago4 |
C |
G |
4: 126,391,093 (GRCm39) |
G730R |
possibly damaging |
Het |
| Amn |
T |
A |
12: 111,238,333 (GRCm39) |
M55K |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,055,102 (GRCm39) |
Y1334F |
probably damaging |
Het |
| Arl14ep |
A |
C |
2: 106,799,574 (GRCm39) |
L89R |
probably damaging |
Het |
| Bcam |
T |
G |
7: 19,498,111 (GRCm39) |
E304A |
probably damaging |
Het |
| Car10 |
A |
T |
11: 93,488,077 (GRCm39) |
Y258F |
probably damaging |
Het |
| Cerk |
T |
A |
15: 86,028,896 (GRCm39) |
K82* |
probably null |
Het |
| Chac2 |
T |
C |
11: 30,927,496 (GRCm39) |
N141S |
probably damaging |
Het |
| Clpx |
T |
G |
9: 65,231,541 (GRCm39) |
L556R |
probably damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,101,364 (GRCm39) |
I55V |
probably benign |
Het |
| Cul1 |
T |
C |
6: 47,500,139 (GRCm39) |
V650A |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,269,546 (GRCm39) |
E895D |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,765,022 (GRCm39) |
K3841E |
probably damaging |
Het |
| Dpys |
A |
G |
15: 39,720,701 (GRCm39) |
S20P |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,470,471 (GRCm39) |
V1490I |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,109,044 (GRCm39) |
C357W |
probably damaging |
Het |
| Flt1 |
T |
A |
5: 147,591,980 (GRCm39) |
D494V |
probably benign |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,513 (GRCm39) |
D173E |
probably benign |
Het |
| Gm2666 |
G |
T |
1: 85,412,824 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3867 |
C |
A |
9: 36,169,096 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5436 |
A |
T |
12: 84,305,374 (GRCm39) |
|
noncoding transcript |
Het |
| Kit |
G |
A |
5: 75,799,668 (GRCm39) |
V467I |
probably benign |
Het |
| Krtap4-16 |
A |
G |
11: 99,741,863 (GRCm39) |
V179A |
unknown |
Het |
| Lrp8 |
C |
A |
4: 107,718,478 (GRCm39) |
H693Q |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,517,605 (GRCm39) |
S75P |
probably benign |
Het |
| Ltbp4 |
C |
A |
7: 27,013,806 (GRCm39) |
V1068L |
probably damaging |
Het |
| Magel2 |
C |
T |
7: 62,028,008 (GRCm39) |
P304L |
possibly damaging |
Het |
| Muc19 |
T |
A |
15: 91,766,850 (GRCm39) |
|
noncoding transcript |
Het |
| Npas3 |
T |
C |
12: 53,993,980 (GRCm39) |
V175A |
possibly damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,352,342 (GRCm39) |
H8Q |
probably benign |
Het |
| Ntsr2 |
G |
A |
12: 16,703,876 (GRCm39) |
V126M |
probably damaging |
Het |
| Odf2 |
A |
T |
2: 29,816,725 (GRCm39) |
T725S |
probably damaging |
Het |
| Or52e19b |
C |
T |
7: 103,032,822 (GRCm39) |
C129Y |
probably damaging |
Het |
| Or5h17 |
C |
T |
16: 58,820,909 (GRCm39) |
P287L |
probably damaging |
Het |
| Or9s13 |
T |
C |
1: 92,548,404 (GRCm39) |
Y259H |
possibly damaging |
Het |
| Pgr |
T |
C |
9: 8,946,639 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,603,562 (GRCm39) |
C249* |
probably null |
Het |
| Plcd3 |
C |
T |
11: 102,961,929 (GRCm39) |
V726M |
possibly damaging |
Het |
| Prl8a1 |
A |
G |
13: 27,759,617 (GRCm39) |
L140P |
probably damaging |
Het |
| Prpf6 |
C |
A |
2: 181,264,056 (GRCm39) |
D239E |
probably damaging |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Rimbp2 |
G |
T |
5: 128,874,809 (GRCm39) |
Q268K |
probably damaging |
Het |
| Rps19-ps13 |
A |
T |
18: 40,859,447 (GRCm39) |
|
noncoding transcript |
Het |
| Sema4c |
C |
A |
1: 36,591,965 (GRCm39) |
G266V |
probably damaging |
Het |
| Sema4g |
T |
C |
19: 44,985,150 (GRCm39) |
F156S |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Speer4f1 |
G |
T |
5: 17,685,381 (GRCm39) |
L225F |
unknown |
Het |
| Thrap3 |
T |
C |
4: 126,059,157 (GRCm39) |
|
probably benign |
Het |
| Trim3 |
T |
C |
7: 105,261,863 (GRCm39) |
N631S |
probably damaging |
Het |
| Trim45 |
C |
T |
3: 100,838,943 (GRCm39) |
|
probably benign |
Het |
| Wdr43 |
A |
G |
17: 71,949,731 (GRCm39) |
D445G |
probably benign |
Het |
|
| Other mutations in Tnfrsf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Tnfrsf8
|
APN |
4 |
145,019,161 (GRCm39) |
splice site |
probably null |
|
|
IGL02815:Tnfrsf8
|
APN |
4 |
145,025,348 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02819:Tnfrsf8
|
APN |
4 |
144,995,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03033:Tnfrsf8
|
APN |
4 |
145,019,219 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03105:Tnfrsf8
|
APN |
4 |
145,025,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Tnfrsf8
|
UTSW |
4 |
145,014,617 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0326:Tnfrsf8
|
UTSW |
4 |
145,015,029 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0594:Tnfrsf8
|
UTSW |
4 |
145,023,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Tnfrsf8
|
UTSW |
4 |
145,014,597 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0826:Tnfrsf8
|
UTSW |
4 |
145,011,708 (GRCm39) |
splice site |
probably benign |
|
|
R3056:Tnfrsf8
|
UTSW |
4 |
145,011,895 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4700:Tnfrsf8
|
UTSW |
4 |
145,029,692 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4765:Tnfrsf8
|
UTSW |
4 |
145,023,447 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5149:Tnfrsf8
|
UTSW |
4 |
145,029,675 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5452:Tnfrsf8
|
UTSW |
4 |
145,019,214 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5632:Tnfrsf8
|
UTSW |
4 |
145,019,203 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5673:Tnfrsf8
|
UTSW |
4 |
145,011,905 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5877:Tnfrsf8
|
UTSW |
4 |
145,019,257 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6243:Tnfrsf8
|
UTSW |
4 |
145,029,671 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6259:Tnfrsf8
|
UTSW |
4 |
145,004,094 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6326:Tnfrsf8
|
UTSW |
4 |
144,995,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6603:Tnfrsf8
|
UTSW |
4 |
145,019,168 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7025:Tnfrsf8
|
UTSW |
4 |
145,000,973 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7156:Tnfrsf8
|
UTSW |
4 |
145,041,654 (GRCm39) |
start codon destroyed |
unknown |
|
|
R7313:Tnfrsf8
|
UTSW |
4 |
145,000,952 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7505:Tnfrsf8
|
UTSW |
4 |
144,995,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8255:Tnfrsf8
|
UTSW |
4 |
145,041,653 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8354:Tnfrsf8
|
UTSW |
4 |
145,014,553 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8406:Tnfrsf8
|
UTSW |
4 |
145,019,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8454:Tnfrsf8
|
UTSW |
4 |
145,014,553 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8554:Tnfrsf8
|
UTSW |
4 |
145,023,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8894:Tnfrsf8
|
UTSW |
4 |
145,001,038 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9125:Tnfrsf8
|
UTSW |
4 |
145,023,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Tnfrsf8
|
UTSW |
4 |
145,019,668 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Tnfrsf8
|
UTSW |
4 |
145,019,279 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTGAGTGCCCACTGATG -3'
(R):5'- ATGAAGGCCGACACAGTGATC -3'
Sequencing Primer
(F):5'- CACTGATGGGGCCCAGG -3'
(R):5'- GGCTCTGTAAAAACTGAAGTCCCTG -3'
|
| Posted On |
2016-06-08 |
Incidental Mutation