Incidental Mutation 'IGL01955:Trafd1'
| ID |
181404 |
| 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 # |
IGL01955
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121509788-121523695 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 121513217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 340
(N340K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042312]
[ENSMUST00000120784]
[ENSMUST00000146185]
[ENSMUST00000152265]
[ENSMUST00000155379]
[ENSMUST00000156158]
|
| AlphaFold |
Q3UDK1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042312
AA Change: N340K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000047475
Gene: ENSMUSG00000042726
AA Change: N340K
| 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 benign
Transcript: ENSMUST00000120784
AA Change: N340K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113910
Gene: ENSMUSG00000042726
AA Change: N340K
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
T |
7: 29,273,420 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc1 |
T |
A |
16: 14,228,659 (GRCm39) |
I302N |
probably damaging |
Het |
| Abhd16a |
A |
G |
17: 35,320,316 (GRCm39) |
S394G |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,330,902 (GRCm39) |
Y71C |
probably damaging |
Het |
| Apol8 |
A |
G |
15: 77,633,899 (GRCm39) |
C226R |
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,664,471 (GRCm39) |
S45P |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,529,149 (GRCm39) |
Y1575C |
probably damaging |
Het |
| Cckbr |
T |
A |
7: 105,084,169 (GRCm39) |
V301E |
probably damaging |
Het |
| Cwc27 |
A |
G |
13: 104,944,245 (GRCm39) |
Y79H |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,406,798 (GRCm39) |
T2236A |
probably benign |
Het |
| Ddx50 |
T |
C |
10: 62,482,962 (GRCm39) |
R36G |
probably benign |
Het |
| Extl3 |
T |
A |
14: 65,313,415 (GRCm39) |
Y589F |
probably benign |
Het |
| Gab2 |
T |
C |
7: 96,953,430 (GRCm39) |
V601A |
probably damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,760,463 (GRCm39) |
N176I |
probably benign |
Het |
| L3mbtl3 |
A |
T |
10: 26,194,336 (GRCm39) |
S420R |
unknown |
Het |
| Odad2 |
C |
T |
18: 7,127,291 (GRCm39) |
R974Q |
possibly damaging |
Het |
| Or2ak6 |
T |
C |
11: 58,592,955 (GRCm39) |
S143P |
probably damaging |
Het |
| Or52e2 |
T |
A |
7: 102,804,061 (GRCm39) |
K298* |
probably null |
Het |
| Or5g23 |
A |
G |
2: 85,439,051 (GRCm39) |
F68L |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,632,674 (GRCm39) |
D974G |
probably damaging |
Het |
| Ptges3l |
T |
C |
11: 101,314,644 (GRCm39) |
K13E |
possibly damaging |
Het |
| Ptprk |
A |
G |
10: 28,471,861 (GRCm39) |
|
probably benign |
Het |
| Rassf3 |
T |
C |
10: 121,253,027 (GRCm39) |
Y60C |
probably damaging |
Het |
| Rnf157 |
T |
C |
11: 116,250,722 (GRCm39) |
T160A |
probably damaging |
Het |
| Secisbp2l |
A |
G |
2: 125,585,732 (GRCm39) |
|
probably null |
Het |
| Setd2 |
A |
G |
9: 110,378,386 (GRCm39) |
T734A |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,480,933 (GRCm39) |
|
probably null |
Het |
| Slc38a9 |
A |
G |
13: 112,831,952 (GRCm39) |
|
probably benign |
Het |
| Snx17 |
T |
G |
5: 31,354,426 (GRCm39) |
|
probably benign |
Het |
| Tas2r113 |
A |
T |
6: 132,870,817 (GRCm39) |
M282L |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,805,766 (GRCm39) |
N404D |
probably benign |
Het |
| Tmem63c |
A |
T |
12: 87,123,982 (GRCm39) |
I487F |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,995,742 (GRCm39) |
M164V |
probably benign |
Het |
| Trpv4 |
T |
A |
5: 114,760,743 (GRCm39) |
K863* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,627,696 (GRCm39) |
M13003K |
possibly damaging |
Het |
| Tulp1 |
G |
A |
17: 28,575,398 (GRCm39) |
T103M |
probably damaging |
Het |
| Unc5b |
T |
C |
10: 60,614,034 (GRCm39) |
T272A |
probably benign |
Het |
| Vmn1r82 |
A |
C |
7: 12,039,650 (GRCm39) |
|
probably null |
Het |
| Zc3h7b |
A |
G |
15: 81,676,205 (GRCm39) |
N704D |
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 |
|
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 |
2014-05-07 |
Incidental Mutation