Incidental Mutation 'IGL01774:Trafd1'
| ID |
154040 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01774
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121509788-121523695 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121513113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 375
(V375A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042312]
[ENSMUST00000120784]
[ENSMUST00000146185]
[ENSMUST00000152265]
[ENSMUST00000155379]
[ENSMUST00000156158]
|
| AlphaFold |
Q3UDK1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042312
AA Change: V375A
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000047475
Gene: ENSMUSG00000042726
AA Change: V375A
| 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 |
possibly damaging
Transcript: ENSMUST00000120784
AA Change: V375A
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113910
Gene: ENSMUSG00000042726
AA Change: V375A
| 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: ENSMUST00000133138
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146185
|
| Predicted Effect |
probably benign
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 benign
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 |
probably benign
Transcript: ENSMUST00000202064
|
| Coding Region Coverage |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,077,058 (GRCm39) |
D708G |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,021,024 (GRCm39) |
|
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,197,207 (GRCm39) |
D674G |
probably damaging |
Het |
| Abr |
A |
G |
11: 76,355,125 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,619,363 (GRCm39) |
I4T |
possibly damaging |
Het |
| Btla |
A |
G |
16: 45,070,911 (GRCm39) |
N290S |
possibly damaging |
Het |
| Catip |
C |
A |
1: 74,407,642 (GRCm39) |
R325S |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,839,902 (GRCm39) |
L786P |
possibly damaging |
Het |
| Cnot8 |
A |
G |
11: 58,006,133 (GRCm39) |
I221V |
probably benign |
Het |
| Eloc |
A |
T |
1: 16,716,013 (GRCm39) |
D37E |
probably benign |
Het |
| Fabp12 |
A |
C |
3: 10,312,754 (GRCm39) |
N89K |
probably benign |
Het |
| Ficd |
G |
T |
5: 113,877,073 (GRCm39) |
R416L |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,106,075 (GRCm39) |
Y574H |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,540,047 (GRCm39) |
|
probably benign |
Het |
| Gatc |
G |
A |
5: 115,479,076 (GRCm39) |
Q45* |
probably null |
Het |
| Gm5414 |
T |
C |
15: 101,535,410 (GRCm39) |
D225G |
probably benign |
Het |
| Itpkc |
G |
T |
7: 26,911,795 (GRCm39) |
A592E |
probably benign |
Het |
| Kl |
G |
T |
5: 150,911,948 (GRCm39) |
V566L |
probably benign |
Het |
| Lpin1 |
T |
A |
12: 16,608,477 (GRCm39) |
D545V |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,692,880 (GRCm39) |
Y483C |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,112,982 (GRCm39) |
W67* |
probably null |
Het |
| Nrarp |
T |
C |
2: 25,071,298 (GRCm39) |
V59A |
possibly damaging |
Het |
| Nuf2 |
G |
A |
1: 169,333,641 (GRCm39) |
T345M |
probably benign |
Het |
| Or52n20 |
T |
C |
7: 104,320,149 (GRCm39) |
I80T |
probably benign |
Het |
| Pacs2 |
T |
A |
12: 113,020,462 (GRCm39) |
H278Q |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,753,276 (GRCm39) |
K420R |
probably benign |
Het |
| Rag2 |
A |
G |
2: 101,460,392 (GRCm39) |
Y234C |
probably damaging |
Het |
| Ralgds |
C |
T |
2: 28,440,554 (GRCm39) |
Q88* |
probably null |
Het |
| Rictor |
T |
C |
15: 6,799,258 (GRCm39) |
S365P |
probably damaging |
Het |
| Slco1a1 |
G |
A |
6: 141,871,339 (GRCm39) |
Q276* |
probably null |
Het |
| Tas2r134 |
C |
T |
2: 51,518,160 (GRCm39) |
T213I |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,148,358 (GRCm39) |
I349T |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,907,813 (GRCm39) |
S1286P |
probably damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,889 (GRCm39) |
I229L |
probably benign |
Het |
| Vnn1 |
T |
C |
10: 23,776,608 (GRCm39) |
Y320H |
probably benign |
Het |
| Zfp990 |
T |
C |
4: 145,263,518 (GRCm39) |
V172A |
probably benign |
Het |
|
| Other mutations in Trafd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4536:Trafd1
|
UTSW |
5 |
121,517,746 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation