Incidental Mutation 'R4419:Trafd1'
ID |
326993 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trafd1
|
Ensembl Gene |
ENSMUSG00000042726 |
Gene Name |
TRAF type zinc finger domain containing 1 |
Synonyms |
Fln29, 1110008K06Rik |
MMRRC Submission |
041140-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4419 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
121509788-121523695 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121511396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 474
(D474G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042312]
[ENSMUST00000042614]
[ENSMUST00000120784]
[ENSMUST00000156158]
|
AlphaFold |
Q3UDK1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042312
AA Change: D474G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000047475 Gene: ENSMUSG00000042726 AA Change: D474G
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: ENSMUST00000042614
|
SMART Domains |
Protein: ENSMUSP00000048345 Gene: ENSMUSG00000042744
Domain | Start | End | E-Value | Type |
low complexity region
|
224 |
234 |
N/A |
INTRINSIC |
low complexity region
|
266 |
282 |
N/A |
INTRINSIC |
low complexity region
|
553 |
564 |
N/A |
INTRINSIC |
low complexity region
|
725 |
735 |
N/A |
INTRINSIC |
low complexity region
|
1252 |
1265 |
N/A |
INTRINSIC |
coiled coil region
|
1372 |
1398 |
N/A |
INTRINSIC |
low complexity region
|
1551 |
1562 |
N/A |
INTRINSIC |
low complexity region
|
1725 |
1741 |
N/A |
INTRINSIC |
low complexity region
|
1892 |
1904 |
N/A |
INTRINSIC |
low complexity region
|
2656 |
2666 |
N/A |
INTRINSIC |
low complexity region
|
2857 |
2872 |
N/A |
INTRINSIC |
low complexity region
|
2901 |
2917 |
N/A |
INTRINSIC |
low complexity region
|
2921 |
2933 |
N/A |
INTRINSIC |
low complexity region
|
3232 |
3246 |
N/A |
INTRINSIC |
low complexity region
|
3275 |
3335 |
N/A |
INTRINSIC |
low complexity region
|
3441 |
3448 |
N/A |
INTRINSIC |
low complexity region
|
3473 |
3506 |
N/A |
INTRINSIC |
low complexity region
|
3512 |
3533 |
N/A |
INTRINSIC |
low complexity region
|
3540 |
3554 |
N/A |
INTRINSIC |
low complexity region
|
3794 |
3822 |
N/A |
INTRINSIC |
HECTc
|
4048 |
4412 |
4.78e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120784
AA Change: D474G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113910 Gene: ENSMUSG00000042726 AA Change: D474G
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: 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
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 |
Amdhd2 |
G |
A |
17: 24,377,652 (GRCm39) |
P126L |
probably benign |
Het |
Arfip2 |
T |
C |
7: 105,288,270 (GRCm39) |
T44A |
probably damaging |
Het |
B4galt1 |
A |
G |
4: 40,853,537 (GRCm39) |
V90A |
probably benign |
Het |
Bad |
C |
A |
19: 6,928,053 (GRCm39) |
A115E |
probably benign |
Het |
Bicc1 |
A |
G |
10: 70,782,804 (GRCm39) |
L521P |
possibly damaging |
Het |
Caskin1 |
T |
C |
17: 24,723,683 (GRCm39) |
S824P |
probably damaging |
Het |
Cblb |
T |
A |
16: 51,867,621 (GRCm39) |
D76E |
possibly damaging |
Het |
Celsr3 |
G |
T |
9: 108,720,443 (GRCm39) |
A2572S |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,567,707 (GRCm39) |
Q2152R |
probably damaging |
Het |
D2hgdh |
T |
A |
1: 93,757,535 (GRCm39) |
V150E |
probably damaging |
Het |
Ddn |
C |
A |
15: 98,703,492 (GRCm39) |
W600L |
probably benign |
Het |
Dicer1 |
A |
T |
12: 104,671,373 (GRCm39) |
Y966N |
probably damaging |
Het |
Dsp |
T |
A |
13: 38,379,108 (GRCm39) |
I1352N |
probably damaging |
Het |
Duox1 |
G |
A |
2: 122,157,607 (GRCm39) |
A578T |
probably benign |
Het |
Dysf |
T |
C |
6: 84,184,224 (GRCm39) |
|
probably null |
Het |
Elmo2 |
T |
C |
2: 165,153,675 (GRCm39) |
|
probably null |
Het |
Heg1 |
A |
T |
16: 33,547,805 (GRCm39) |
E864V |
probably benign |
Het |
Hoxb9 |
T |
C |
11: 96,162,807 (GRCm39) |
V147A |
probably benign |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Ky |
G |
A |
9: 102,419,909 (GRCm39) |
V639I |
probably damaging |
Het |
Med16 |
G |
A |
10: 79,734,216 (GRCm39) |
A566V |
probably benign |
Het |
Mettl17 |
G |
T |
14: 52,124,729 (GRCm39) |
G167C |
possibly damaging |
Het |
Mgat4b |
T |
C |
11: 50,123,813 (GRCm39) |
F318L |
probably damaging |
Het |
Mug2 |
C |
A |
6: 122,056,589 (GRCm39) |
A1178D |
probably damaging |
Het |
Myo3b |
A |
G |
2: 69,926,706 (GRCm39) |
D51G |
probably damaging |
Het |
Naip2 |
T |
C |
13: 100,297,133 (GRCm39) |
N968D |
probably benign |
Het |
Nbea |
T |
C |
3: 55,917,021 (GRCm39) |
H820R |
probably damaging |
Het |
Nqo1 |
C |
T |
8: 108,118,749 (GRCm39) |
|
probably null |
Het |
Or10ak7 |
A |
T |
4: 118,791,586 (GRCm39) |
I153N |
possibly damaging |
Het |
Or6c68 |
T |
C |
10: 129,157,684 (GRCm39) |
F64S |
possibly damaging |
Het |
Or8b51 |
C |
T |
9: 38,569,365 (GRCm39) |
V108I |
probably benign |
Het |
Ppargc1a |
T |
C |
5: 51,652,044 (GRCm39) |
D218G |
probably damaging |
Het |
Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
Scn3a |
C |
A |
2: 65,297,304 (GRCm39) |
G1452C |
probably damaging |
Het |
Slc22a2 |
C |
A |
17: 12,831,473 (GRCm39) |
S421* |
probably null |
Het |
Slc39a10 |
A |
G |
1: 46,849,226 (GRCm39) |
F797L |
probably benign |
Het |
Spta1 |
T |
A |
1: 174,074,990 (GRCm39) |
Y2405* |
probably null |
Het |
Ss18 |
A |
G |
18: 14,766,662 (GRCm39) |
Y359H |
unknown |
Het |
St14 |
C |
T |
9: 31,008,224 (GRCm39) |
C537Y |
probably damaging |
Het |
Tmem252 |
T |
A |
19: 24,654,910 (GRCm39) |
Y96N |
probably damaging |
Het |
Trmt1l |
A |
G |
1: 151,316,559 (GRCm39) |
I20M |
probably damaging |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Vmn1r43 |
A |
G |
6: 89,846,629 (GRCm39) |
S286P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGCATTATTCTGCATGTGTG -3'
(R):5'- TGTCTGCCATGACAGTCTGC -3'
Sequencing Primer
(F):5'- GTTTCTGAAGATCAAACTCAGGCC -3'
(R):5'- TGCCATGACAGTCTGCTAGTAACAG -3'
|
Posted On |
2015-07-07 |