Incidental Mutation 'IGL01951:Trafd1'
ID |
181043 |
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 # |
IGL01951
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
121509788-121523695 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 121512094 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 399
(R399C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042312]
[ENSMUST00000120784]
[ENSMUST00000152265]
[ENSMUST00000155379]
[ENSMUST00000156158]
|
AlphaFold |
Q3UDK1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042312
AA Change: R399C
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000047475 Gene: ENSMUSG00000042726 AA Change: R399C
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: R399C
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113910 Gene: ENSMUSG00000042726 AA Change: R399C
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: 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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
A |
G |
4: 103,092,865 (GRCm39) |
I152T |
probably damaging |
Het |
A2m |
C |
T |
6: 121,644,149 (GRCm39) |
T949I |
possibly damaging |
Het |
Begain |
T |
A |
12: 108,999,571 (GRCm39) |
Y605F |
probably benign |
Het |
Cavin2 |
A |
G |
1: 51,328,570 (GRCm39) |
E9G |
possibly damaging |
Het |
Cdh16 |
A |
G |
8: 105,344,323 (GRCm39) |
V72A |
probably damaging |
Het |
Dgkd |
T |
C |
1: 87,844,638 (GRCm39) |
L268P |
probably damaging |
Het |
Eps8 |
T |
A |
6: 137,514,669 (GRCm39) |
Y28F |
possibly damaging |
Het |
Erap1 |
T |
C |
13: 74,823,414 (GRCm39) |
I816T |
probably damaging |
Het |
Fli1 |
A |
T |
9: 32,372,660 (GRCm39) |
F126Y |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21957 |
A |
T |
7: 124,819,004 (GRCm39) |
|
noncoding transcript |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Hectd1 |
T |
A |
12: 51,841,280 (GRCm39) |
R618* |
probably null |
Het |
Homez |
T |
C |
14: 55,095,633 (GRCm39) |
E25G |
probably damaging |
Het |
Ifngr1 |
C |
A |
10: 19,485,202 (GRCm39) |
N400K |
possibly damaging |
Het |
Lin7a |
G |
A |
10: 107,247,886 (GRCm39) |
V186I |
possibly damaging |
Het |
Lpcat2 |
G |
T |
8: 93,644,675 (GRCm39) |
S448I |
probably damaging |
Het |
Lrp10 |
C |
A |
14: 54,706,119 (GRCm39) |
Y436* |
probably null |
Het |
Myef2l |
G |
A |
3: 10,154,118 (GRCm39) |
V296M |
probably damaging |
Het |
Myo1f |
A |
G |
17: 33,816,991 (GRCm39) |
H707R |
possibly damaging |
Het |
Neurl4 |
A |
G |
11: 69,800,449 (GRCm39) |
N1147D |
probably damaging |
Het |
Or4b1b |
G |
T |
2: 90,112,351 (GRCm39) |
D189E |
probably damaging |
Het |
Or6b3 |
T |
C |
1: 92,438,853 (GRCm39) |
D299G |
probably null |
Het |
Pak6 |
T |
C |
2: 118,523,741 (GRCm39) |
S299P |
probably benign |
Het |
Panx2 |
A |
G |
15: 88,952,970 (GRCm39) |
D487G |
probably damaging |
Het |
Sbspon |
T |
C |
1: 15,929,158 (GRCm39) |
N211S |
probably benign |
Het |
Sgsm1 |
T |
A |
5: 113,434,633 (GRCm39) |
|
probably benign |
Het |
Slc38a4 |
T |
C |
15: 96,917,644 (GRCm39) |
Y27C |
probably benign |
Het |
Sorbs1 |
A |
G |
19: 40,306,460 (GRCm39) |
|
probably benign |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Ssh1 |
A |
T |
5: 114,104,308 (GRCm39) |
Y35N |
possibly damaging |
Het |
Stx2 |
A |
T |
5: 129,069,329 (GRCm39) |
F127L |
probably damaging |
Het |
Synm |
A |
T |
7: 67,388,885 (GRCm39) |
I325N |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,233,690 (GRCm39) |
|
probably benign |
Het |
Tbc1d23 |
A |
G |
16: 57,007,048 (GRCm39) |
|
probably benign |
Het |
Tmem50a |
T |
C |
4: 134,625,739 (GRCm39) |
|
probably benign |
Het |
Tpx2 |
T |
G |
2: 152,726,096 (GRCm39) |
L354V |
probably benign |
Het |
Trem3 |
C |
T |
17: 48,556,903 (GRCm39) |
R125W |
probably damaging |
Het |
Ubp1 |
T |
A |
9: 113,780,686 (GRCm39) |
Y92* |
probably null |
Het |
Wnk1 |
T |
A |
6: 119,940,446 (GRCm39) |
T62S |
probably damaging |
Het |
Zbtb6 |
T |
C |
2: 37,319,343 (GRCm39) |
E195G |
probably benign |
Het |
Zc3h15 |
A |
G |
2: 83,491,829 (GRCm39) |
D306G |
probably damaging |
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 |
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 |
2014-05-07 |