Incidental Mutation 'R9539:Traf7'
| ID |
719826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf7
|
| Ensembl Gene |
ENSMUSG00000052752 |
| Gene Name |
TNF receptor-associated factor 7 |
| Synonyms |
RFWD1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.644)
|
| Stock # |
R9539 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24727824-24746912 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24729333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 465
(V465M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024958]
[ENSMUST00000070777]
[ENSMUST00000088464]
[ENSMUST00000176086]
[ENSMUST00000176178]
[ENSMUST00000176237]
[ENSMUST00000176353]
[ENSMUST00000176324]
[ENSMUST00000176652]
[ENSMUST00000176668]
[ENSMUST00000177025]
[ENSMUST00000177154]
[ENSMUST00000177193]
[ENSMUST00000177401]
[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 |
probably damaging
Transcript: ENSMUST00000070777
AA Change: V465M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069334
Gene: ENSMUSG00000052752
AA Change: V465M
| 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 damaging
Transcript: ENSMUST00000088464
AA Change: V505M
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000085812
Gene: ENSMUSG00000052752
AA Change: V505M
| 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 |
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: ENSMUST00000176178
|
| SMART Domains |
Protein: ENSMUSP00000134808
Gene: ENSMUSG00000052752
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176237
|
| SMART Domains |
Protein: ENSMUSP00000134946
Gene: ENSMUSG00000052752
| 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 |
probably damaging
Transcript: ENSMUST00000176353
AA Change: V465M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752
AA Change: V465M
| 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: ENSMUST00000176324
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176652
AA Change: V505M
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134759
Gene: ENSMUSG00000052752
AA Change: V505M
| 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: 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: ENSMUST00000177025
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177154
|
| SMART Domains |
Protein: ENSMUSP00000135874
Gene: ENSMUSG00000052752
| 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: ENSMUST00000177193
|
| SMART Domains |
Protein: ENSMUSP00000135288
Gene: ENSMUSG00000052752
| 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: ENSMUST00000177401
|
| 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah1 |
G |
A |
8: 41,827,584 (GRCm39) |
A13V |
probably benign |
Het |
| Bdh1 |
A |
G |
16: 31,273,914 (GRCm39) |
T160A |
probably benign |
Het |
| Ccdc115 |
C |
T |
1: 34,477,930 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
T |
A |
10: 41,463,407 (GRCm39) |
E1445V |
possibly damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,901,993 (GRCm39) |
E1215G |
possibly damaging |
Het |
| Cep290 |
A |
T |
10: 100,404,713 (GRCm39) |
E2358D |
probably damaging |
Het |
| Cog6 |
A |
G |
3: 52,914,722 (GRCm39) |
S245P |
probably benign |
Het |
| Copb2 |
A |
T |
9: 98,467,983 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
T |
A |
8: 70,892,115 (GRCm39) |
M32L |
probably benign |
Het |
| Dagla |
A |
C |
19: 10,228,429 (GRCm39) |
|
probably null |
Het |
| Dph5 |
C |
A |
3: 115,722,305 (GRCm39) |
P261Q |
probably damaging |
Het |
| Gpr137c |
T |
C |
14: 45,516,187 (GRCm39) |
V307A |
probably damaging |
Het |
| Herpud2 |
A |
G |
9: 25,041,936 (GRCm39) |
Y79H |
probably damaging |
Het |
| Ighg2b |
C |
T |
12: 113,270,498 (GRCm39) |
V211I |
|
Het |
| Meioc |
C |
T |
11: 102,565,506 (GRCm39) |
T318M |
probably damaging |
Het |
| Mterf4 |
T |
C |
1: 93,229,188 (GRCm39) |
Y275C |
unknown |
Het |
| Mtfr1 |
T |
C |
3: 19,271,422 (GRCm39) |
V198A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,415,322 (GRCm39) |
I138F |
probably damaging |
Het |
| Pacc1 |
C |
T |
1: 191,077,174 (GRCm39) |
Q166* |
probably null |
Het |
| Pf4 |
T |
A |
5: 90,920,891 (GRCm39) |
V73D |
possibly damaging |
Het |
| Phldb1 |
T |
C |
9: 44,627,482 (GRCm39) |
E321G |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,691,427 (GRCm39) |
S59G |
probably null |
Het |
| Pmfbp1 |
A |
G |
8: 110,240,537 (GRCm39) |
I206M |
probably damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,174,658 (GRCm39) |
V50A |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,725,715 (GRCm39) |
H1496R |
probably benign |
Het |
| Sardh |
T |
A |
2: 27,134,298 (GRCm39) |
I73F |
probably damaging |
Het |
| Serpind1 |
G |
A |
16: 17,157,638 (GRCm39) |
W278* |
probably null |
Het |
| Slit3 |
C |
T |
11: 35,589,155 (GRCm39) |
Q1237* |
probably null |
Het |
| Smg1 |
T |
C |
7: 117,744,976 (GRCm39) |
I3059V |
probably benign |
Het |
| Spart |
T |
A |
3: 55,034,924 (GRCm39) |
W437R |
probably damaging |
Het |
| Spata6 |
C |
G |
4: 111,685,526 (GRCm39) |
A477G |
possibly damaging |
Het |
| Suox |
A |
G |
10: 128,507,383 (GRCm39) |
F215S |
probably damaging |
Het |
| Tcaf1 |
T |
C |
6: 42,655,683 (GRCm39) |
N431S |
probably benign |
Het |
| Tgfbr3l |
G |
A |
8: 4,299,679 (GRCm39) |
R154H |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,494,457 (GRCm39) |
K766R |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,984,105 (GRCm39) |
K255* |
probably null |
Het |
| Tmem67 |
A |
T |
4: 12,045,814 (GRCm39) |
L881H |
probably damaging |
Het |
| Tmem67 |
G |
T |
4: 12,045,815 (GRCm39) |
L881I |
probably damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,760,544 (GRCm39) |
S84G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,618,568 (GRCm39) |
V16239I |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,609,163 (GRCm39) |
|
probably null |
Het |
| Zc3h11a |
T |
C |
1: 133,554,927 (GRCm39) |
E351G |
probably benign |
Het |
| Zfp942 |
T |
A |
17: 22,148,014 (GRCm39) |
H205L |
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 |
|
R4682:Traf7
|
UTSW |
17 |
24,732,348 (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 |
|
|
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'- AGCCTCAGAGCATGTTGGAG -3'
(R):5'- AGAAGGTGAATACTATCCGGGC -3'
Sequencing Primer
(F):5'- GCAGAAGAAGCTCTAGGTCACC -3'
(R):5'- TGAATACTATCCGGGCCCACG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation