Incidental Mutation 'R4536:Trafd1'
| ID |
333320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trafd1
|
| Ensembl Gene |
ENSMUSG00000042726 |
| Gene Name |
TRAF type zinc finger domain containing 1 |
| Synonyms |
Fln29, 1110008K06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4536 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121509788-121523695 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 121517746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042312]
[ENSMUST00000120784]
[ENSMUST00000146185]
[ENSMUST00000152265]
[ENSMUST00000155379]
[ENSMUST00000156158]
|
| AlphaFold |
Q3UDK1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042312
|
| SMART Domains |
Protein: ENSMUSP00000047475
Gene: ENSMUSG00000042726
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
37 |
59 |
1.55e1 |
SMART |
|
PDB:2D9K|A
|
78 |
137 |
7e-33 |
PDB |
|
low complexity region
|
211 |
228 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
291 |
316 |
2.57e2 |
SMART |
|
internal_repeat_1
|
364 |
390 |
2.73e-6 |
PROSPERO |
|
low complexity region
|
534 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
561 |
573 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120784
|
| SMART Domains |
Protein: ENSMUSP00000113910
Gene: ENSMUSG00000042726
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
37 |
59 |
1.55e1 |
SMART |
|
PDB:2D9K|A
|
78 |
137 |
7e-33 |
PDB |
|
low complexity region
|
211 |
228 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
291 |
316 |
2.57e2 |
SMART |
|
internal_repeat_1
|
364 |
390 |
3.07e-6 |
PROSPERO |
|
low complexity region
|
531 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
569 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126550
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146185
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152265
|
| SMART Domains |
Protein: ENSMUSP00000115159
Gene: ENSMUSG00000042726
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
37 |
59 |
1.55e1 |
SMART |
|
PDB:2D9K|A
|
78 |
137 |
6e-35 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155379
|
| SMART Domains |
Protein: ENSMUSP00000118351
Gene: ENSMUSG00000042726
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
37 |
59 |
1.55e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156158
|
| SMART Domains |
Protein: ENSMUSP00000143426
Gene: ENSMUSG00000042726
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2D9K|A
|
1 |
32 |
3e-15 |
PDB |
|
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200668
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The innate immune system confers host defense against viral and microbial infection, and TRAFD1 is a negative feedback regulator that controls excessive immune responses (Sanada et al., 2008 [PubMed 18849341]).[supplied by OMIM, Dec 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit increased susceptibility to endotoxin shock and decreased susceptibility to viral infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amot |
A |
G |
X: 144,263,138 (GRCm39) |
S398P |
probably benign |
Het |
| Arhgef17 |
G |
C |
7: 100,579,061 (GRCm39) |
S629C |
probably damaging |
Het |
| Atg5lrt |
G |
A |
10: 95,972,564 (GRCm39) |
A34T |
probably benign |
Het |
| Atp5if1 |
A |
C |
4: 132,260,870 (GRCm39) |
S4A |
possibly damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,849,091 (GRCm39) |
A1081V |
probably benign |
Het |
| Atr |
A |
G |
9: 95,756,471 (GRCm39) |
D867G |
probably benign |
Het |
| C1qtnf3 |
G |
A |
15: 10,972,113 (GRCm39) |
S206N |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,444,867 (GRCm39) |
|
probably null |
Het |
| Cetn1 |
T |
C |
18: 9,618,998 (GRCm39) |
E141G |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,130,363 (GRCm39) |
S879R |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,385,781 (GRCm39) |
N269K |
probably damaging |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Frmd4b |
T |
A |
6: 97,287,693 (GRCm39) |
Q241L |
possibly damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| Gls2 |
G |
A |
10: 128,036,806 (GRCm39) |
V196I |
probably benign |
Het |
| Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Klhl1 |
A |
C |
14: 96,374,019 (GRCm39) |
|
probably null |
Het |
| Mettl4 |
C |
A |
17: 95,042,933 (GRCm39) |
S301I |
possibly damaging |
Het |
| Mlxip |
G |
A |
5: 123,588,566 (GRCm39) |
D819N |
probably damaging |
Het |
| Or10d5 |
A |
T |
9: 39,861,731 (GRCm39) |
L112Q |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,772,424 (GRCm39) |
K440* |
probably null |
Het |
| Phldb2 |
T |
C |
16: 45,591,044 (GRCm39) |
M996V |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,825,251 (GRCm39) |
M464L |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,850 (GRCm39) |
S591G |
possibly damaging |
Het |
| Rfx6 |
A |
G |
10: 51,599,880 (GRCm39) |
N542S |
probably benign |
Het |
| Slc44a4 |
T |
A |
17: 35,142,815 (GRCm39) |
C254S |
probably damaging |
Het |
| Sptbn2 |
C |
T |
19: 4,782,630 (GRCm39) |
A522V |
probably damaging |
Het |
| Syt10 |
C |
T |
15: 89,666,825 (GRCm39) |
D509N |
probably damaging |
Het |
| Tango2 |
A |
G |
16: 18,142,219 (GRCm39) |
|
probably null |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Tysnd1 |
G |
A |
10: 61,531,832 (GRCm39) |
W161* |
probably null |
Het |
| Uggt2 |
A |
T |
14: 119,256,970 (GRCm39) |
M1088K |
probably benign |
Het |
|
| Other mutations in Trafd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01774:Trafd1
|
APN |
5 |
121,513,113 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01951:Trafd1
|
APN |
5 |
121,512,094 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01955:Trafd1
|
APN |
5 |
121,513,217 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1136:Trafd1
|
UTSW |
5 |
121,511,387 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1386:Trafd1
|
UTSW |
5 |
121,517,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Trafd1
|
UTSW |
5 |
121,517,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Trafd1
|
UTSW |
5 |
121,511,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2989:Trafd1
|
UTSW |
5 |
121,517,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3895:Trafd1
|
UTSW |
5 |
121,516,804 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4419:Trafd1
|
UTSW |
5 |
121,511,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4814:Trafd1
|
UTSW |
5 |
121,512,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4822:Trafd1
|
UTSW |
5 |
121,516,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Trafd1
|
UTSW |
5 |
121,513,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5560:Trafd1
|
UTSW |
5 |
121,511,366 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5849:Trafd1
|
UTSW |
5 |
121,511,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5980:Trafd1
|
UTSW |
5 |
121,511,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5982:Trafd1
|
UTSW |
5 |
121,511,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6919:Trafd1
|
UTSW |
5 |
121,522,137 (GRCm39) |
nonsense |
probably null |
|
|
R8128:Trafd1
|
UTSW |
5 |
121,510,465 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8265:Trafd1
|
UTSW |
5 |
121,511,340 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8756:Trafd1
|
UTSW |
5 |
121,513,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9046:Trafd1
|
UTSW |
5 |
121,513,189 (GRCm39) |
missense |
probably benign |
|
|
R9130:Trafd1
|
UTSW |
5 |
121,516,573 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9173:Trafd1
|
UTSW |
5 |
121,516,598 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9513:Trafd1
|
UTSW |
5 |
121,516,837 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9699:Trafd1
|
UTSW |
5 |
121,517,727 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Trafd1
|
UTSW |
5 |
121,515,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGAGTCAATCCAGTGGCC -3'
(R):5'- AACAATCATTAGGCGGGCC -3'
Sequencing Primer
(F):5'- AGTCAATCCAGTGGCCCTGTC -3'
(R):5'- GAGACGAAAATCCAGGTCTTTTCTGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation