Incidental Mutation 'R8756:Trafd1'
| ID |
664163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trafd1
|
| Ensembl Gene |
ENSMUSG00000042726 |
| Gene Name |
TRAF type zinc finger domain containing 1 |
| Synonyms |
Fln29, 1110008K06Rik |
| MMRRC Submission |
068597-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8756 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121509788-121523695 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121513878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 303
(E303G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042312]
[ENSMUST00000120784]
[ENSMUST00000146185]
[ENSMUST00000152265]
[ENSMUST00000155379]
[ENSMUST00000156158]
|
| AlphaFold |
Q3UDK1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042312
AA Change: E303G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047475
Gene: ENSMUSG00000042726
AA Change: E303G
| 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 damaging
Transcript: ENSMUST00000120784
AA Change: E303G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113910
Gene: ENSMUSG00000042726
AA Change: E303G
| 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 |
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 damaging
Transcript: ENSMUST00000156158
AA Change: E198G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143426
Gene: ENSMUSG00000042726
AA Change: E198G
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxr1 |
A |
T |
6: 87,165,235 (GRCm39) |
S401T |
probably damaging |
Het |
| Armh1 |
T |
A |
4: 117,094,861 (GRCm39) |
I60L |
probably benign |
Het |
| Atp8b5 |
T |
C |
4: 43,342,439 (GRCm39) |
V370A |
probably damaging |
Het |
| Atraid |
T |
A |
5: 31,211,385 (GRCm39) |
Y184N |
probably damaging |
Het |
| Cp |
G |
C |
3: 20,059,736 (GRCm39) |
|
probably null |
Het |
| Crebbp |
A |
G |
16: 3,903,767 (GRCm39) |
I1824T |
probably benign |
Het |
| Cyp2c65 |
A |
T |
19: 39,049,552 (GRCm39) |
R27* |
probably null |
Het |
| Dtl |
T |
C |
1: 191,271,371 (GRCm39) |
H725R |
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,583,261 (GRCm39) |
A453S |
probably benign |
Het |
| Fat3 |
T |
A |
9: 16,287,885 (GRCm39) |
D546V |
probably damaging |
Het |
| Flt1 |
T |
C |
5: 147,576,224 (GRCm39) |
T595A |
probably benign |
Het |
| Gtf2ird2 |
C |
T |
5: 134,226,090 (GRCm39) |
P179S |
possibly damaging |
Het |
| Hoga1 |
A |
G |
19: 42,048,716 (GRCm39) |
I145V |
probably benign |
Het |
| Igfn1 |
G |
T |
1: 135,895,698 (GRCm39) |
Q1623K |
probably benign |
Het |
| Jsrp1 |
T |
A |
10: 80,647,940 (GRCm39) |
|
probably null |
Het |
| Krt90 |
A |
C |
15: 101,470,779 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
T |
A |
16: 32,808,810 (GRCm39) |
S514T |
probably benign |
Het |
| Mad2l1 |
T |
C |
6: 66,512,569 (GRCm39) |
V20A |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 15,757,706 (GRCm39) |
|
probably null |
Het |
| Matn2 |
A |
C |
15: 34,423,876 (GRCm39) |
E578A |
possibly damaging |
Het |
| Myof |
A |
T |
19: 37,928,400 (GRCm39) |
W1050R |
probably benign |
Het |
| Nemp1 |
T |
A |
10: 127,528,845 (GRCm39) |
I183N |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,683,386 (GRCm39) |
T1155A |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,461,506 (GRCm39) |
S2681P |
probably benign |
Het |
| Onecut3 |
C |
A |
10: 80,349,750 (GRCm39) |
R415S |
probably damaging |
Het |
| Or2d2 |
T |
C |
7: 106,728,019 (GRCm39) |
T194A |
probably benign |
Het |
| Or4s2 |
T |
A |
2: 88,473,183 (GRCm39) |
V24E |
possibly damaging |
Het |
| Pclo |
T |
A |
5: 14,764,398 (GRCm39) |
S1005R |
|
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,552,073 (GRCm39) |
V357M |
probably damaging |
Het |
| Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
| Serpinh1 |
A |
G |
7: 98,996,359 (GRCm39) |
Y242H |
probably damaging |
Het |
| Slit2 |
G |
T |
5: 48,459,829 (GRCm39) |
E1370* |
probably null |
Het |
| Sos2 |
C |
A |
12: 69,695,310 (GRCm39) |
L142F |
probably damaging |
Het |
| Spag4 |
T |
C |
2: 155,908,493 (GRCm39) |
L141P |
possibly damaging |
Het |
| Sun1 |
T |
C |
5: 139,222,444 (GRCm39) |
L570P |
probably damaging |
Het |
| Tars2 |
A |
G |
3: 95,648,672 (GRCm39) |
V662A |
probably benign |
Het |
| Tmem245 |
C |
A |
4: 56,899,025 (GRCm39) |
|
probably null |
Het |
| Tpp2 |
T |
A |
1: 43,999,295 (GRCm39) |
Y356* |
probably null |
Het |
| Trim71 |
T |
C |
9: 114,342,605 (GRCm39) |
E559G |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,644,141 (GRCm39) |
V4501E |
possibly damaging |
Het |
| Vegfa |
T |
C |
17: 46,342,465 (GRCm39) |
T118A |
probably damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,294,094 (GRCm39) |
H727L |
probably benign |
Het |
| Zdhhc2 |
T |
A |
8: 40,920,551 (GRCm39) |
V270E |
probably damaging |
Het |
| Zfp112 |
T |
C |
7: 23,824,997 (GRCm39) |
S326P |
probably benign |
Het |
| Zfp37 |
T |
C |
4: 62,110,371 (GRCm39) |
D272G |
possibly 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 |
|
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 |
|
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'- CAGAACCAGACACAGTGCTG -3'
(R):5'- TGTGAAACCTCTCCTTGAATCGG -3'
Sequencing Primer
(F):5'- GTGTGCCCATGATCCCAGTTG -3'
(R):5'- GAAACCTCTCCTTGAATCGGTTTTGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation