Incidental Mutation 'R7669:Traf7'
| ID |
592069 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf7
|
| Ensembl Gene |
ENSMUSG00000052752 |
| Gene Name |
TNF receptor-associated factor 7 |
| Synonyms |
RFWD1 |
| MMRRC Submission |
045741-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.644)
|
| Stock # |
R7669 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24727824-24746912 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 24732282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 143
(G143*)
|
| 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 null
Transcript: ENSMUST00000070777
AA Change: G143*
|
| SMART Domains |
Protein: ENSMUSP00000069334
Gene: ENSMUSG00000052752
AA Change: G143*
| 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 null
Transcript: ENSMUST00000088464
AA Change: G181*
|
| SMART Domains |
Protein: ENSMUSP00000085812
Gene: ENSMUSG00000052752
AA Change: G181*
| 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 null
Transcript: ENSMUST00000175698
AA Change: G11*
|
| 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 null
Transcript: ENSMUST00000176237
AA Change: G142*
|
| SMART Domains |
Protein: ENSMUSP00000134946
Gene: ENSMUSG00000052752
AA Change: G142*
| 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 null
Transcript: ENSMUST00000176353
AA Change: G143*
|
| SMART Domains |
Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752
AA Change: G143*
| 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 null
Transcript: ENSMUST00000176652
AA Change: G181*
|
| SMART Domains |
Protein: ENSMUSP00000134759
Gene: ENSMUSG00000052752
AA Change: G181*
| 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 null
Transcript: ENSMUST00000177154
AA Change: G182*
|
| SMART Domains |
Protein: ENSMUSP00000135874
Gene: ENSMUSG00000052752
AA Change: G182*
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,831,221 (GRCm39) |
P930S |
probably benign |
Het |
| Ada |
T |
A |
2: 163,570,111 (GRCm39) |
K301* |
probably null |
Het |
| Alb |
T |
C |
5: 90,611,850 (GRCm39) |
L93P |
possibly damaging |
Het |
| Aldh1l1 |
G |
A |
6: 90,547,844 (GRCm39) |
G435S |
probably benign |
Het |
| Alox12b |
A |
T |
11: 69,060,167 (GRCm39) |
I627F |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,025,946 (GRCm39) |
I503V |
probably benign |
Het |
| Arhgap29 |
C |
T |
3: 121,786,461 (GRCm39) |
A342V |
probably damaging |
Het |
| BC024139 |
G |
A |
15: 76,004,768 (GRCm39) |
P636L |
possibly damaging |
Het |
| Bmp6 |
G |
T |
13: 38,668,896 (GRCm39) |
R293L |
probably damaging |
Het |
| Cfd |
G |
A |
10: 79,727,447 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,967,273 (GRCm39) |
A3197T |
probably damaging |
Het |
| Flii |
G |
A |
11: 60,613,490 (GRCm39) |
L166F |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,195,822 (GRCm39) |
N507K |
unknown |
Het |
| Foxe1 |
C |
A |
4: 46,344,545 (GRCm39) |
R118S |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,840,483 (GRCm39) |
V1646A |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,637,711 (GRCm39) |
T262A |
possibly damaging |
Het |
| Gpbp1 |
A |
T |
13: 111,575,658 (GRCm39) |
S282T |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,462,029 (GRCm39) |
N641K |
probably damaging |
Het |
| Grin2a |
T |
G |
16: 9,810,327 (GRCm39) |
N24T |
probably benign |
Het |
| Gstm2 |
T |
G |
3: 107,892,992 (GRCm39) |
D40A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,426,143 (GRCm39) |
I657N |
probably benign |
Het |
| Kmt2b |
T |
C |
7: 30,282,656 (GRCm39) |
E1102G |
possibly damaging |
Het |
| Macroh2a1 |
T |
C |
13: 56,276,146 (GRCm39) |
Y39C |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,635,944 (GRCm39) |
N366K |
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,385,510 (GRCm39) |
V35E |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,161,224 (GRCm39) |
F381S |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,336,048 (GRCm39) |
H1474R |
possibly damaging |
Het |
| Mtrf1l |
G |
T |
10: 5,765,620 (GRCm39) |
A239E |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,625,200 (GRCm39) |
A2297E |
probably damaging |
Het |
| Nectin4 |
A |
G |
1: 171,207,827 (GRCm39) |
E73G |
probably benign |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Nfia |
G |
A |
4: 97,671,742 (GRCm39) |
V151I |
probably damaging |
Het |
| Nol6 |
A |
G |
4: 41,118,717 (GRCm39) |
L720P |
probably damaging |
Het |
| Or6c203 |
A |
G |
10: 129,010,128 (GRCm39) |
F254S |
probably damaging |
Het |
| Or7e165 |
A |
G |
9: 19,694,839 (GRCm39) |
N137D |
possibly damaging |
Het |
| Patj |
A |
G |
4: 98,407,179 (GRCm39) |
E1054G |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,037,325 (GRCm39) |
D1861G |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,241,045 (GRCm39) |
T80A |
probably benign |
Het |
| Scart2 |
A |
G |
7: 139,876,234 (GRCm39) |
S569G |
possibly damaging |
Het |
| Sgsm1 |
C |
A |
5: 113,400,890 (GRCm39) |
R1000L |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,935,516 (GRCm39) |
D199G |
possibly damaging |
Het |
| Suox |
T |
C |
10: 128,506,780 (GRCm39) |
D416G |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,011,531 (GRCm39) |
T38M |
probably damaging |
Het |
| Tcf7l2 |
T |
A |
19: 55,912,975 (GRCm39) |
C421* |
probably null |
Het |
| Tex55 |
C |
T |
16: 38,648,453 (GRCm39) |
D219N |
possibly damaging |
Het |
| Trappc12 |
T |
C |
12: 28,761,957 (GRCm39) |
I544V |
probably benign |
Het |
| Trmt1 |
G |
A |
8: 85,424,180 (GRCm39) |
V434I |
probably benign |
Het |
| Ttc5 |
T |
C |
14: 51,014,787 (GRCm39) |
H160R |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,521 (GRCm39) |
H1587Q |
probably benign |
Het |
| Zfp523 |
C |
T |
17: 28,420,015 (GRCm39) |
T220M |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,819,362 (GRCm39) |
S1234T |
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 |
|
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'- CCAGAGAGGTAAAGGTGCTC -3'
(R):5'- CACCTTGGGGCCAATGAAAG -3'
Sequencing Primer
(F):5'- TCAGCAGCCCCAGGGAAG -3'
(R):5'- AAGGCACTCGGTGGGCTTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation