Incidental Mutation 'R6594:Traf7'
ID |
524826 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Traf7
|
Ensembl Gene |
ENSMUSG00000052752 |
Gene Name |
TNF receptor-associated factor 7 |
Synonyms |
RFWD1 |
MMRRC Submission |
044718-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.644)
|
Stock # |
R6594 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24727824-24746912 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24728813 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 591
(V591A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134759
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024958]
[ENSMUST00000070777]
[ENSMUST00000088464]
[ENSMUST00000176086]
[ENSMUST00000176178]
[ENSMUST00000176353]
[ENSMUST00000176652]
[ENSMUST00000176668]
[ENSMUST00000177154]
[ENSMUST00000177025]
[ENSMUST00000177401]
[ENSMUST00000176237]
[ENSMUST00000177193]
[ENSMUST00000176324]
[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 benign
Transcript: ENSMUST00000070777
AA Change: V551A
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000069334 Gene: ENSMUSG00000052752 AA Change: V551A
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 |
possibly damaging
Transcript: ENSMUST00000088464
AA Change: V591A
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000085812 Gene: ENSMUSG00000052752 AA Change: V591A
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: 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: ENSMUST00000176353
AA Change: V551A
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000135267 Gene: ENSMUSG00000052752 AA Change: V551A
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 |
possibly damaging
Transcript: ENSMUST00000176652
AA Change: V591A
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000134759 Gene: ENSMUSG00000052752 AA Change: V591A
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: 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: ENSMUST00000177025
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176530
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177024
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176805
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177401
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176633
|
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 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: ENSMUST00000176324
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176900
|
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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
96% (52/54) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
C |
6: 23,113,432 (GRCm39) |
N296S |
probably benign |
Het |
Abca13 |
A |
T |
11: 9,244,632 (GRCm39) |
N2165I |
possibly damaging |
Het |
Anpep |
T |
A |
7: 79,491,109 (GRCm39) |
|
probably null |
Het |
Bcl2a1b |
A |
C |
9: 89,089,647 (GRCm39) |
I145L |
probably benign |
Het |
Ccar2 |
G |
A |
14: 70,377,925 (GRCm39) |
L687F |
probably damaging |
Het |
Cd69 |
A |
G |
6: 129,246,537 (GRCm39) |
|
probably null |
Het |
Chchd10 |
A |
C |
10: 75,772,158 (GRCm39) |
Q43P |
probably damaging |
Het |
Ddx55 |
A |
G |
5: 124,704,988 (GRCm39) |
E415G |
probably damaging |
Het |
Defa41 |
A |
G |
8: 21,692,471 (GRCm39) |
|
probably null |
Het |
Dhx40 |
A |
T |
11: 86,676,599 (GRCm39) |
C172S |
possibly damaging |
Het |
Epha1 |
G |
A |
6: 42,341,625 (GRCm39) |
T475I |
probably benign |
Het |
Eri1 |
T |
C |
8: 35,949,687 (GRCm39) |
T91A |
probably damaging |
Het |
Fscn1 |
C |
T |
5: 142,955,783 (GRCm39) |
A158V |
probably benign |
Het |
Gm11437 |
C |
T |
11: 84,055,386 (GRCm39) |
G77R |
probably null |
Het |
Golm1 |
T |
C |
13: 59,812,041 (GRCm39) |
N94D |
possibly damaging |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Haus4 |
C |
A |
14: 54,781,268 (GRCm39) |
E269D |
possibly damaging |
Het |
Hyou1 |
T |
C |
9: 44,300,619 (GRCm39) |
M896T |
probably benign |
Het |
Itpr2 |
T |
A |
6: 146,091,978 (GRCm39) |
M2174L |
possibly damaging |
Het |
Kars1 |
T |
C |
8: 112,720,299 (GRCm39) |
|
probably benign |
Het |
Kif1a |
T |
C |
1: 92,949,035 (GRCm39) |
M1488V |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,270,267 (GRCm39) |
T4106A |
possibly damaging |
Het |
Lrrc20 |
G |
A |
10: 61,318,225 (GRCm39) |
V16I |
possibly damaging |
Het |
Mecr |
T |
A |
4: 131,582,004 (GRCm39) |
V162E |
probably damaging |
Het |
Ms4a4a |
C |
A |
19: 11,363,778 (GRCm39) |
A102E |
probably damaging |
Het |
Mycn |
T |
C |
12: 12,990,051 (GRCm39) |
D115G |
probably damaging |
Het |
Ninj2 |
A |
T |
6: 120,175,750 (GRCm39) |
T138S |
possibly damaging |
Het |
Oasl2 |
G |
A |
5: 115,044,836 (GRCm39) |
V121I |
probably benign |
Het |
Or10s1 |
T |
C |
9: 39,986,239 (GRCm39) |
L216P |
probably damaging |
Het |
Or2r11 |
A |
T |
6: 42,437,309 (GRCm39) |
S215T |
probably benign |
Het |
Or7g19 |
T |
C |
9: 18,856,127 (GRCm39) |
F61S |
probably damaging |
Het |
Pcdha11 |
A |
C |
18: 37,144,235 (GRCm39) |
I109L |
probably benign |
Het |
Pira1 |
T |
A |
7: 3,739,498 (GRCm39) |
K457* |
probably null |
Het |
Pon1 |
A |
G |
6: 5,185,314 (GRCm39) |
L62P |
probably damaging |
Het |
Rp1l1 |
A |
T |
14: 64,269,126 (GRCm39) |
K1571* |
probably null |
Het |
Sec24d |
G |
T |
3: 123,087,412 (GRCm39) |
G193C |
probably damaging |
Het |
Sema3b |
A |
T |
9: 107,476,025 (GRCm39) |
M732K |
probably benign |
Het |
Serpinb8 |
T |
C |
1: 107,525,201 (GRCm39) |
M1T |
probably null |
Het |
Sgip1 |
T |
A |
4: 102,819,676 (GRCm39) |
V594E |
probably damaging |
Het |
Slc3a2 |
T |
C |
19: 8,685,410 (GRCm39) |
S197G |
probably damaging |
Het |
Slc44a5 |
T |
C |
3: 153,964,660 (GRCm39) |
V520A |
possibly damaging |
Het |
Surf6 |
G |
T |
2: 26,792,761 (GRCm39) |
D13E |
possibly damaging |
Het |
Tmem94 |
G |
A |
11: 115,689,112 (GRCm39) |
R1341H |
probably damaging |
Het |
Tns2 |
G |
A |
15: 102,018,994 (GRCm39) |
R395Q |
probably benign |
Het |
Trim72 |
T |
C |
7: 127,609,220 (GRCm39) |
S341P |
probably damaging |
Het |
Trps1 |
A |
G |
15: 50,694,351 (GRCm39) |
V398A |
probably damaging |
Het |
Ube2m |
C |
A |
7: 12,771,617 (GRCm39) |
E14* |
probably null |
Het |
Unc119 |
T |
A |
11: 78,238,046 (GRCm39) |
Y10N |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,642,995 (GRCm39) |
L4119P |
possibly damaging |
Het |
Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
Vmn2r4 |
A |
G |
3: 64,296,731 (GRCm39) |
S685P |
probably damaging |
Het |
Vmn2r58 |
T |
C |
7: 41,486,535 (GRCm39) |
M787V |
possibly damaging |
Het |
Vmn2r72 |
T |
C |
7: 85,398,892 (GRCm39) |
H487R |
probably benign |
Het |
Xcr1 |
A |
G |
9: 123,685,309 (GRCm39) |
I151T |
probably benign |
Het |
Zfp658 |
T |
C |
7: 43,216,701 (GRCm39) |
S24P |
possibly damaging |
Het |
Zfyve16 |
T |
C |
13: 92,650,326 (GRCm39) |
D886G |
probably benign |
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 |
|
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'- GCATGGGATATGAGAGCCTG -3'
(R):5'- ATTCGGACCCTTGACTGCATC -3'
Sequencing Primer
(F):5'- ATATGAGAGCCTGCCCTGG -3'
(R):5'- GACTGCATCCATGTCCTGCAG -3'
|
Posted On |
2018-06-22 |