Incidental Mutation 'R4682:Traf7'
ID |
397270 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Traf7
|
Ensembl Gene |
ENSMUSG00000052752 |
Gene Name |
TNF receptor-associated factor 7 |
Synonyms |
RFWD1 |
MMRRC Submission |
041934-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.644)
|
Stock # |
R4682 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24727824-24746912 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24732348 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 159
(K159E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135288
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024958]
[ENSMUST00000070777]
[ENSMUST00000088464]
[ENSMUST00000176086]
[ENSMUST00000176237]
[ENSMUST00000176353]
[ENSMUST00000176652]
[ENSMUST00000176324]
[ENSMUST00000176668]
[ENSMUST00000176178]
[ENSMUST00000177193]
[ENSMUST00000177154]
[ENSMUST00000177401]
[ENSMUST00000177025]
[ENSMUST00000177405]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024958
|
SMART Domains |
Protein: ENSMUSP00000024958 Gene: ENSMUSG00000033597
Domain | Start | End | E-Value | Type |
ANK
|
48 |
77 |
9.93e-5 |
SMART |
ANK
|
81 |
110 |
1.9e-1 |
SMART |
ANK
|
114 |
143 |
1.51e-4 |
SMART |
ANK
|
147 |
176 |
1.15e0 |
SMART |
ANK
|
188 |
217 |
2.6e-8 |
SMART |
ANK
|
220 |
249 |
3.31e-1 |
SMART |
SH3
|
284 |
346 |
3.62e-5 |
SMART |
Pfam:Caskin1-CID
|
373 |
421 |
3e-26 |
PFAM |
SAM
|
473 |
539 |
3.63e-15 |
SMART |
SAM
|
542 |
609 |
5.41e-14 |
SMART |
low complexity region
|
631 |
647 |
N/A |
INTRINSIC |
low complexity region
|
667 |
679 |
N/A |
INTRINSIC |
low complexity region
|
715 |
724 |
N/A |
INTRINSIC |
low complexity region
|
841 |
863 |
N/A |
INTRINSIC |
Pfam:Caskin-Pro-rich
|
878 |
966 |
3e-37 |
PFAM |
low complexity region
|
1163 |
1168 |
N/A |
INTRINSIC |
low complexity region
|
1190 |
1216 |
N/A |
INTRINSIC |
low complexity region
|
1222 |
1232 |
N/A |
INTRINSIC |
low complexity region
|
1269 |
1288 |
N/A |
INTRINSIC |
low complexity region
|
1294 |
1312 |
N/A |
INTRINSIC |
low complexity region
|
1315 |
1333 |
N/A |
INTRINSIC |
low complexity region
|
1344 |
1359 |
N/A |
INTRINSIC |
Pfam:Caskin-tail
|
1369 |
1431 |
7.2e-33 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070777
AA Change: K121E
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000069334 Gene: ENSMUSG00000052752 AA Change: K121E
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
RING
|
92 |
125 |
4.73e-6 |
SMART |
coiled coil region
|
264 |
332 |
N/A |
INTRINSIC |
WD40
|
344 |
383 |
8.35e-11 |
SMART |
WD40
|
387 |
424 |
8.42e-7 |
SMART |
WD40
|
427 |
463 |
2.09e-2 |
SMART |
WD40
|
468 |
504 |
1.92e0 |
SMART |
WD40
|
507 |
544 |
5.15e-2 |
SMART |
WD40
|
547 |
588 |
1.78e-5 |
SMART |
WD40
|
591 |
628 |
1.63e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088464
AA Change: K159E
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000085812 Gene: ENSMUSG00000052752 AA Change: K159E
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
low complexity region
|
90 |
104 |
N/A |
INTRINSIC |
low complexity region
|
109 |
117 |
N/A |
INTRINSIC |
RING
|
130 |
163 |
4.73e-6 |
SMART |
Pfam:zf-TRAF
|
221 |
277 |
3.4e-8 |
PFAM |
coiled coil region
|
304 |
372 |
N/A |
INTRINSIC |
WD40
|
384 |
423 |
8.35e-11 |
SMART |
WD40
|
427 |
464 |
8.42e-7 |
SMART |
WD40
|
467 |
503 |
2.09e-2 |
SMART |
WD40
|
508 |
544 |
1.92e0 |
SMART |
WD40
|
547 |
584 |
5.15e-2 |
SMART |
WD40
|
587 |
628 |
1.78e-5 |
SMART |
WD40
|
631 |
668 |
1.63e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175698
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175732
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176086
|
SMART Domains |
Protein: ENSMUSP00000135845 Gene: ENSMUSG00000052752
Domain | Start | End | E-Value | Type |
low complexity region
|
103 |
132 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176237
AA Change: K120E
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000134946 Gene: ENSMUSG00000052752 AA Change: K120E
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
RING
|
91 |
124 |
4.73e-6 |
SMART |
Pfam:zf-TRAF
|
182 |
238 |
8.4e-9 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176353
AA Change: K121E
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000135267 Gene: ENSMUSG00000052752 AA Change: K121E
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
RING
|
92 |
125 |
4.73e-6 |
SMART |
coiled coil region
|
264 |
332 |
N/A |
INTRINSIC |
WD40
|
344 |
383 |
8.35e-11 |
SMART |
WD40
|
387 |
424 |
8.42e-7 |
SMART |
WD40
|
427 |
463 |
2.09e-2 |
SMART |
WD40
|
468 |
504 |
1.92e0 |
SMART |
WD40
|
507 |
544 |
5.15e-2 |
SMART |
WD40
|
547 |
588 |
1.78e-5 |
SMART |
WD40
|
591 |
628 |
1.63e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176652
AA Change: K159E
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000134759 Gene: ENSMUSG00000052752 AA Change: K159E
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
low complexity region
|
90 |
104 |
N/A |
INTRINSIC |
low complexity region
|
109 |
117 |
N/A |
INTRINSIC |
RING
|
130 |
163 |
4.73e-6 |
SMART |
coiled coil region
|
304 |
372 |
N/A |
INTRINSIC |
WD40
|
384 |
423 |
8.35e-11 |
SMART |
WD40
|
427 |
464 |
8.42e-7 |
SMART |
WD40
|
467 |
503 |
2.09e-2 |
SMART |
WD40
|
508 |
544 |
1.92e0 |
SMART |
WD40
|
547 |
584 |
5.15e-2 |
SMART |
WD40
|
587 |
628 |
1.78e-5 |
SMART |
WD40
|
631 |
668 |
1.63e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176324
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176668
|
SMART Domains |
Protein: ENSMUSP00000135586 Gene: ENSMUSG00000052752
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176178
|
SMART Domains |
Protein: ENSMUSP00000134808 Gene: ENSMUSG00000052752
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176092
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176434
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176530
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176633
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176805
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177193
AA Change: K159E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135288 Gene: ENSMUSG00000052752 AA Change: K159E
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
low complexity region
|
90 |
104 |
N/A |
INTRINSIC |
low complexity region
|
109 |
117 |
N/A |
INTRINSIC |
RING
|
130 |
163 |
4.73e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177154
AA Change: K160E
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000135874 Gene: ENSMUSG00000052752 AA Change: K160E
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
low complexity region
|
91 |
105 |
N/A |
INTRINSIC |
low complexity region
|
110 |
118 |
N/A |
INTRINSIC |
RING
|
131 |
164 |
4.73e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177401
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177024
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177025
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177502
|
SMART Domains |
Protein: ENSMUSP00000134970 Gene: ENSMUSG00000052752
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
RING
|
24 |
68 |
4.24e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177405
|
SMART Domains |
Protein: ENSMUSP00000135127 Gene: ENSMUSG00000052752
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1093 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
94% (45/48) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc1 |
A |
G |
2: 128,505,925 (GRCm39) |
V637A |
probably benign |
Het |
Aurkc |
G |
A |
7: 6,998,538 (GRCm39) |
V33M |
probably null |
Het |
Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
Dapk1 |
T |
A |
13: 60,898,961 (GRCm39) |
S810R |
probably benign |
Het |
Dpm2 |
C |
T |
2: 32,462,290 (GRCm39) |
|
probably benign |
Het |
Fgb |
A |
T |
3: 82,950,572 (GRCm39) |
F394Y |
probably benign |
Het |
Fry |
A |
G |
5: 150,346,219 (GRCm39) |
Y1576C |
probably damaging |
Het |
Gabra4 |
T |
C |
5: 71,815,152 (GRCm39) |
M1V |
probably null |
Het |
Grhl1 |
T |
G |
12: 24,658,432 (GRCm39) |
V359G |
probably benign |
Het |
Hdac5 |
T |
C |
11: 102,097,456 (GRCm39) |
S158G |
probably null |
Het |
Hdgfl1 |
T |
C |
13: 26,953,230 (GRCm39) |
E281G |
possibly damaging |
Het |
Igfn1 |
T |
C |
1: 135,926,363 (GRCm39) |
E29G |
probably benign |
Het |
Inpp1 |
T |
C |
1: 52,833,760 (GRCm39) |
N112S |
probably benign |
Het |
Itih1 |
C |
A |
14: 30,659,800 (GRCm39) |
A279S |
probably damaging |
Het |
Mad1l1 |
A |
T |
5: 140,286,007 (GRCm39) |
M296K |
possibly damaging |
Het |
Mark4 |
T |
C |
7: 19,179,097 (GRCm39) |
|
probably null |
Het |
Mrpl48 |
T |
A |
7: 100,198,576 (GRCm39) |
D192V |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
Nckap5 |
A |
T |
1: 126,030,279 (GRCm39) |
|
probably null |
Het |
Nlrp4d |
T |
C |
7: 10,108,879 (GRCm39) |
T731A |
noncoding transcript |
Het |
Or4d6 |
T |
C |
19: 12,086,049 (GRCm39) |
Y287C |
probably damaging |
Het |
Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
Plekhm3 |
T |
C |
1: 64,977,086 (GRCm39) |
D128G |
possibly damaging |
Het |
Ppp1r9a |
A |
G |
6: 4,905,477 (GRCm39) |
T11A |
possibly damaging |
Het |
Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
Rnf138 |
T |
A |
18: 21,143,791 (GRCm39) |
Y112N |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,377,362 (GRCm39) |
V442E |
probably benign |
Het |
Slc36a4 |
C |
A |
9: 15,638,144 (GRCm39) |
S190* |
probably null |
Het |
Slc46a1 |
A |
G |
11: 78,359,502 (GRCm39) |
K378R |
possibly damaging |
Het |
Snai2 |
T |
C |
16: 14,526,150 (GRCm39) |
V267A |
probably benign |
Het |
Srrm2 |
T |
A |
17: 24,034,666 (GRCm39) |
S533T |
probably benign |
Het |
St6galnac4 |
T |
A |
2: 32,484,111 (GRCm39) |
M103K |
probably damaging |
Het |
Tap2 |
C |
A |
17: 34,433,006 (GRCm39) |
Y429* |
probably null |
Het |
Zfp111 |
T |
G |
7: 23,898,563 (GRCm39) |
K349N |
probably damaging |
Het |
Zfp462 |
A |
G |
4: 55,011,376 (GRCm39) |
Y1114C |
probably damaging |
Het |
|
Other mutations in Traf7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01674:Traf7
|
APN |
17 |
24,729,349 (GRCm39) |
unclassified |
probably benign |
|
IGL01821:Traf7
|
APN |
17 |
24,729,473 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02263:Traf7
|
APN |
17 |
24,732,020 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02307:Traf7
|
APN |
17 |
24,732,020 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02321:Traf7
|
APN |
17 |
24,732,020 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02323:Traf7
|
APN |
17 |
24,732,020 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02636:Traf7
|
APN |
17 |
24,731,964 (GRCm39) |
missense |
probably benign |
|
Antediluvian
|
UTSW |
17 |
24,729,015 (GRCm39) |
missense |
probably damaging |
1.00 |
Caveman
|
UTSW |
17 |
24,728,519 (GRCm39) |
missense |
probably damaging |
1.00 |
Oldhat
|
UTSW |
17 |
24,731,266 (GRCm39) |
missense |
probably benign |
0.28 |
R0109:Traf7
|
UTSW |
17 |
24,732,900 (GRCm39) |
missense |
probably benign |
0.12 |
R0109:Traf7
|
UTSW |
17 |
24,732,900 (GRCm39) |
missense |
probably benign |
0.12 |
R0193:Traf7
|
UTSW |
17 |
24,729,525 (GRCm39) |
missense |
probably benign |
0.22 |
R1426:Traf7
|
UTSW |
17 |
24,730,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R1484:Traf7
|
UTSW |
17 |
24,730,785 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1574:Traf7
|
UTSW |
17 |
24,729,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R1574:Traf7
|
UTSW |
17 |
24,729,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Traf7
|
UTSW |
17 |
24,731,353 (GRCm39) |
missense |
probably damaging |
0.98 |
R1729:Traf7
|
UTSW |
17 |
24,731,353 (GRCm39) |
missense |
probably damaging |
0.98 |
R1784:Traf7
|
UTSW |
17 |
24,731,353 (GRCm39) |
missense |
probably damaging |
0.98 |
R1959:Traf7
|
UTSW |
17 |
24,732,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R1994:Traf7
|
UTSW |
17 |
24,729,476 (GRCm39) |
missense |
probably damaging |
0.99 |
R2484:Traf7
|
UTSW |
17 |
24,730,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R4778:Traf7
|
UTSW |
17 |
24,729,412 (GRCm39) |
unclassified |
probably benign |
|
R4779:Traf7
|
UTSW |
17 |
24,729,412 (GRCm39) |
unclassified |
probably benign |
|
R4781:Traf7
|
UTSW |
17 |
24,729,412 (GRCm39) |
unclassified |
probably benign |
|
R5120:Traf7
|
UTSW |
17 |
24,737,718 (GRCm39) |
nonsense |
probably null |
|
R6594:Traf7
|
UTSW |
17 |
24,728,813 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6885:Traf7
|
UTSW |
17 |
24,731,266 (GRCm39) |
missense |
probably benign |
0.28 |
R7396:Traf7
|
UTSW |
17 |
24,728,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R7669:Traf7
|
UTSW |
17 |
24,732,282 (GRCm39) |
nonsense |
probably null |
|
R7707:Traf7
|
UTSW |
17 |
24,729,683 (GRCm39) |
splice site |
probably null |
|
R8087:Traf7
|
UTSW |
17 |
24,731,038 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8557:Traf7
|
UTSW |
17 |
24,729,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R8932:Traf7
|
UTSW |
17 |
24,731,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R9457:Traf7
|
UTSW |
17 |
24,746,737 (GRCm39) |
critical splice donor site |
probably benign |
|
R9539:Traf7
|
UTSW |
17 |
24,729,333 (GRCm39) |
missense |
probably damaging |
0.98 |
R9679:Traf7
|
UTSW |
17 |
24,746,737 (GRCm39) |
critical splice donor site |
probably benign |
|
R9680:Traf7
|
UTSW |
17 |
24,746,737 (GRCm39) |
critical splice donor site |
probably benign |
|
Z1177:Traf7
|
UTSW |
17 |
24,728,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGGTTGAGCTAAGACCCCAC -3'
(R):5'- CACCTTGGGGCCAATGAAAG -3'
Sequencing Primer
(F):5'- CTTCCGGGCACTAAGCTTGATG -3'
(R):5'- GAGTGGGCAAGGCACTC -3'
|
Posted On |
2016-07-05 |