Incidental Mutation 'R4151:Tnfrsf25'
| ID |
314891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfrsf25
|
| Ensembl Gene |
ENSMUSG00000024793 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 25 |
| Synonyms |
LARD, DDR3, WSL-1, Wsl, Tnfrsf12, DR3, WSL-LR, APO-3, TR3, TRAMP |
| MMRRC Submission |
040861-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4151 (G1)
|
| Quality Score |
176 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152200391-152204576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 152204258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 376
(A376S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025706]
[ENSMUST00000030785]
[ENSMUST00000035275]
[ENSMUST00000049305]
[ENSMUST00000070018]
[ENSMUST00000080042]
[ENSMUST00000084114]
[ENSMUST00000084115]
[ENSMUST00000105661]
[ENSMUST00000105653]
[ENSMUST00000105655]
[ENSMUST00000118648]
[ENSMUST00000105659]
[ENSMUST00000105654]
[ENSMUST00000105656]
[ENSMUST00000105657]
[ENSMUST00000135185]
[ENSMUST00000103196]
[ENSMUST00000105662]
[ENSMUST00000105658]
[ENSMUST00000207676]
|
| AlphaFold |
B1AWN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025706
AA Change: A400S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025706
Gene: ENSMUSG00000024793
AA Change: A400S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
TNFR
|
38 |
75 |
4.12e0 |
SMART |
|
TNFR
|
78 |
120 |
3.78e-5 |
SMART |
|
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
DEATH
|
315 |
407 |
6.04e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030785
|
| SMART Domains |
Protein: ENSMUSP00000030785
Gene: ENSMUSG00000028943
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
35 |
64 |
3.26e0 |
SMART |
|
ANK
|
69 |
99 |
1.15e0 |
SMART |
|
ANK
|
103 |
133 |
2.58e-3 |
SMART |
|
ANK
|
137 |
167 |
1.63e0 |
SMART |
|
ANK
|
171 |
201 |
4.97e-5 |
SMART |
|
ANK
|
205 |
235 |
3.08e-1 |
SMART |
|
ANK
|
239 |
268 |
9.13e-4 |
SMART |
|
ANK
|
271 |
300 |
2.15e0 |
SMART |
|
ANK
|
304 |
334 |
2.08e3 |
SMART |
|
low complexity region
|
377 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
629 |
N/A |
INTRINSIC |
|
WH2
|
669 |
686 |
4.82e-3 |
SMART |
|
low complexity region
|
714 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
748 |
N/A |
INTRINSIC |
|
coiled coil region
|
772 |
848 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035275
AA Change: A376S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000047823
Gene: ENSMUSG00000024793
AA Change: A376S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
43 |
N/A |
INTRINSIC |
|
TNFR
|
51 |
88 |
4.12e0 |
SMART |
|
TNFR
|
91 |
133 |
3.78e-5 |
SMART |
|
transmembrane domain
|
172 |
194 |
N/A |
INTRINSIC |
|
DEATH
|
291 |
383 |
6.04e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049305
|
| SMART Domains |
Protein: ENSMUSP00000037982
Gene: ENSMUSG00000028943
| Domain | Start | End | E-Value | Type |
|---|
|
WH2
|
26 |
43 |
4.82e-3 |
SMART |
|
low complexity region
|
96 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
130 |
N/A |
INTRINSIC |
|
coiled coil region
|
154 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070018
|
| SMART Domains |
Protein: ENSMUSP00000065545
Gene: ENSMUSG00000028943
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
313 |
N/A |
INTRINSIC |
|
WH2
|
322 |
339 |
4.82e-3 |
SMART |
|
low complexity region
|
367 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
401 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
432 |
499 |
4e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080042
|
| SMART Domains |
Protein: ENSMUSP00000078951
Gene: ENSMUSG00000028943
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
210 |
N/A |
INTRINSIC |
|
WH2
|
250 |
267 |
4.82e-3 |
SMART |
|
low complexity region
|
295 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
329 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
360 |
427 |
2e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084114
|
| SMART Domains |
Protein: ENSMUSP00000081131
Gene: ENSMUSG00000028943
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
291 |
N/A |
INTRINSIC |
|
WH2
|
331 |
348 |
4.82e-3 |
SMART |
|
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
410 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
441 |
508 |
6e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127111
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084115
|
| SMART Domains |
Protein: ENSMUSP00000081132
Gene: ENSMUSG00000039713
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
314 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
RhoGEF
|
410 |
597 |
5.21e-53 |
SMART |
|
PH
|
655 |
756 |
7.35e-12 |
SMART |
|
low complexity region
|
778 |
790 |
N/A |
INTRINSIC |
|
low complexity region
|
895 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
1060 |
1069 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105661
|
| SMART Domains |
Protein: ENSMUSP00000101286
Gene: ENSMUSG00000039713
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
314 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
RhoGEF
|
410 |
597 |
5.21e-53 |
SMART |
|
PH
|
655 |
756 |
7.35e-12 |
SMART |
|
low complexity region
|
778 |
790 |
N/A |
INTRINSIC |
|
low complexity region
|
895 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
1060 |
1069 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105653
|
| SMART Domains |
Protein: ENSMUSP00000101278
Gene: ENSMUSG00000028943
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
74 |
N/A |
INTRINSIC |
|
WH2
|
83 |
100 |
4.82e-3 |
SMART |
|
low complexity region
|
128 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
162 |
N/A |
INTRINSIC |
|
coiled coil region
|
186 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105655
|
| SMART Domains |
Protein: ENSMUSP00000101280
Gene: ENSMUSG00000028943
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
207 |
N/A |
INTRINSIC |
|
WH2
|
247 |
264 |
4.82e-3 |
SMART |
|
low complexity region
|
292 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
326 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
357 |
424 |
3e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118648
|
| SMART Domains |
Protein: ENSMUSP00000112707
Gene: ENSMUSG00000039713
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
301 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
367 |
N/A |
INTRINSIC |
|
RhoGEF
|
397 |
584 |
5.21e-53 |
SMART |
|
PH
|
642 |
743 |
7.35e-12 |
SMART |
|
low complexity region
|
765 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
921 |
N/A |
INTRINSIC |
|
low complexity region
|
1047 |
1056 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105659
|
| SMART Domains |
Protein: ENSMUSP00000101284
Gene: ENSMUSG00000028943
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
35 |
64 |
3.26e0 |
SMART |
|
ANK
|
69 |
99 |
1.15e0 |
SMART |
|
ANK
|
103 |
133 |
2.58e-3 |
SMART |
|
ANK
|
137 |
167 |
1.63e0 |
SMART |
|
ANK
|
171 |
201 |
4.97e-5 |
SMART |
|
ANK
|
205 |
235 |
3.08e-1 |
SMART |
|
ANK
|
239 |
268 |
9.13e-4 |
SMART |
|
ANK
|
271 |
300 |
2.15e0 |
SMART |
|
ANK
|
304 |
334 |
2.08e3 |
SMART |
|
low complexity region
|
377 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
661 |
670 |
N/A |
INTRINSIC |
|
WH2
|
679 |
696 |
4.82e-3 |
SMART |
|
low complexity region
|
724 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
750 |
758 |
N/A |
INTRINSIC |
|
coiled coil region
|
782 |
858 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105654
|
| SMART Domains |
Protein: ENSMUSP00000101279
Gene: ENSMUSG00000028943
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
310 |
N/A |
INTRINSIC |
|
WH2
|
319 |
336 |
4.82e-3 |
SMART |
|
low complexity region
|
364 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
398 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
429 |
496 |
6e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105656
|
| SMART Domains |
Protein: ENSMUSP00000101281
Gene: ENSMUSG00000028943
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
288 |
N/A |
INTRINSIC |
|
WH2
|
328 |
345 |
4.82e-3 |
SMART |
|
low complexity region
|
373 |
387 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
407 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
438 |
505 |
8e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105657
|
| SMART Domains |
Protein: ENSMUSP00000101282
Gene: ENSMUSG00000028943
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
232 |
N/A |
INTRINSIC |
|
WH2
|
241 |
258 |
4.82e-3 |
SMART |
|
low complexity region
|
286 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
320 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
351 |
418 |
2e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135185
|
| SMART Domains |
Protein: ENSMUSP00000122464
Gene: ENSMUSG00000028943
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
5 |
35 |
2.58e-3 |
SMART |
|
ANK
|
39 |
69 |
1.63e0 |
SMART |
|
ANK
|
73 |
103 |
4.97e-5 |
SMART |
|
ANK
|
107 |
137 |
3.08e-1 |
SMART |
|
ANK
|
141 |
170 |
9.13e-4 |
SMART |
|
ANK
|
173 |
202 |
2.15e0 |
SMART |
|
ANK
|
206 |
236 |
2.08e3 |
SMART |
|
low complexity region
|
279 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
542 |
N/A |
INTRINSIC |
|
WH2
|
551 |
568 |
4.82e-3 |
SMART |
|
low complexity region
|
596 |
610 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
630 |
N/A |
INTRINSIC |
|
coiled coil region
|
654 |
685 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103196
|
| SMART Domains |
Protein: ENSMUSP00000099485
Gene: ENSMUSG00000028943
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
229 |
N/A |
INTRINSIC |
|
WH2
|
238 |
255 |
4.82e-3 |
SMART |
|
low complexity region
|
283 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
317 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
348 |
415 |
2e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105662
|
| SMART Domains |
Protein: ENSMUSP00000101287
Gene: ENSMUSG00000039713
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
282 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
348 |
N/A |
INTRINSIC |
|
RhoGEF
|
378 |
565 |
5.21e-53 |
SMART |
|
PH
|
623 |
724 |
7.35e-12 |
SMART |
|
low complexity region
|
746 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
902 |
N/A |
INTRINSIC |
|
low complexity region
|
1028 |
1037 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105658
|
| SMART Domains |
Protein: ENSMUSP00000101283
Gene: ENSMUSG00000028943
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
35 |
64 |
3.26e0 |
SMART |
|
ANK
|
69 |
99 |
1.15e0 |
SMART |
|
ANK
|
103 |
133 |
2.58e-3 |
SMART |
|
ANK
|
137 |
167 |
1.63e0 |
SMART |
|
ANK
|
171 |
201 |
4.97e-5 |
SMART |
|
ANK
|
205 |
235 |
3.08e-1 |
SMART |
|
ANK
|
239 |
268 |
9.13e-4 |
SMART |
|
ANK
|
271 |
300 |
2.15e0 |
SMART |
|
ANK
|
304 |
334 |
2.08e3 |
SMART |
|
low complexity region
|
377 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
615 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
637 |
N/A |
INTRINSIC |
|
WH2
|
646 |
663 |
4.82e-3 |
SMART |
|
low complexity region
|
691 |
705 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
725 |
N/A |
INTRINSIC |
|
coiled coil region
|
749 |
825 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156517
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153619
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed preferentially in the tissues enriched in lymphocytes, and it may play a role in regulating lymphocyte homeostasis. This receptor has been shown to stimulate NF-kappa B activity and regulate cell apoptosis. The signal transduction of this receptor is mediated by various death domain containing adaptor proteins. Knockout studies in mice suggested the role of this gene in the removal of self-reactive T cells in the thymus. Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported, most of which are potentially secreted molecules. The alternative splicing of this gene in B and T cells encounters a programmed change upon T-cell activation, which predominantly produces full-length, membrane bound isoforms, and is thought to be involved in controlling lymphocyte proliferation induced by T-cell activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice show no developmental defects or impairments of early thymocyte development. Negative selection and anti-CD3-induced apoptosis, however, are significantly impaired. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano10 |
C |
T |
9: 122,090,601 (GRCm39) |
W237* |
probably null |
Het |
| Armc9 |
C |
T |
1: 86,092,497 (GRCm39) |
T87M |
probably damaging |
Het |
| Astn2 |
C |
T |
4: 65,647,557 (GRCm39) |
|
probably null |
Het |
| Atxn7l1 |
G |
A |
12: 33,414,481 (GRCm39) |
V506M |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,920,914 (GRCm39) |
N36D |
probably benign |
Het |
| Cfap45 |
T |
A |
1: 172,359,788 (GRCm39) |
I96N |
probably damaging |
Het |
| Cyp8b1 |
A |
T |
9: 121,745,134 (GRCm39) |
V66D |
probably damaging |
Het |
| Dnajb6 |
C |
G |
5: 29,961,234 (GRCm39) |
L118V |
probably benign |
Het |
| Dpy19l4 |
A |
G |
4: 11,309,485 (GRCm39) |
S44P |
possibly damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,935,763 (GRCm39) |
H20R |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,836,254 (GRCm39) |
S695R |
possibly damaging |
Het |
| Eif3g |
T |
C |
9: 20,806,429 (GRCm39) |
D220G |
probably benign |
Het |
| Fbxo38 |
GTGCTGCTGCTGCTGCTGCTGC |
GTGCTGCTGCTGCTGCTGC |
18: 62,648,399 (GRCm39) |
|
probably benign |
Het |
| Gata2 |
T |
A |
6: 88,176,620 (GRCm39) |
H26Q |
probably damaging |
Het |
| Gle1 |
T |
C |
2: 29,834,056 (GRCm39) |
I434T |
probably damaging |
Het |
| Gm5145 |
A |
G |
17: 20,791,360 (GRCm39) |
E246G |
probably damaging |
Het |
| Ints10 |
T |
A |
8: 69,247,250 (GRCm39) |
|
probably null |
Het |
| Kdr |
G |
T |
5: 76,117,761 (GRCm39) |
A664E |
possibly damaging |
Het |
| Klhl1 |
A |
C |
14: 96,755,752 (GRCm39) |
M1R |
probably null |
Het |
| Lama4 |
T |
A |
10: 38,881,424 (GRCm39) |
F71Y |
probably benign |
Het |
| Madd |
C |
A |
2: 90,973,428 (GRCm39) |
R1410L |
probably benign |
Het |
| Magi2 |
T |
C |
5: 19,432,290 (GRCm39) |
S2P |
probably damaging |
Het |
| Map4k3 |
T |
C |
17: 80,951,963 (GRCm39) |
K228R |
probably damaging |
Het |
| Mrpl43 |
A |
G |
19: 44,994,175 (GRCm39) |
L148P |
possibly damaging |
Het |
| Msi2 |
G |
C |
11: 88,608,870 (GRCm39) |
S16C |
probably damaging |
Het |
| Myo1e |
G |
T |
9: 70,204,633 (GRCm39) |
G78* |
probably null |
Het |
| Notch2 |
T |
C |
3: 98,054,387 (GRCm39) |
L2350S |
possibly damaging |
Het |
| Nptn |
G |
T |
9: 58,550,825 (GRCm39) |
S168I |
probably benign |
Het |
| Nsmce2 |
A |
G |
15: 59,473,214 (GRCm39) |
T244A |
probably benign |
Het |
| Or5aq6 |
C |
T |
2: 86,923,514 (GRCm39) |
V76I |
probably benign |
Het |
| Ostn |
T |
A |
16: 27,140,152 (GRCm39) |
S22T |
probably benign |
Het |
| Plekhb2 |
T |
G |
1: 34,903,564 (GRCm39) |
F102V |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,634,637 (GRCm39) |
D3594G |
probably benign |
Het |
| Psmd6 |
G |
C |
14: 14,120,157 (GRCm38) |
L61V |
probably benign |
Het |
| Rbm33 |
C |
T |
5: 28,592,938 (GRCm39) |
P573S |
probably damaging |
Het |
| Rfk |
A |
C |
19: 17,372,672 (GRCm39) |
I65L |
probably benign |
Het |
| Rnf141 |
A |
T |
7: 110,436,406 (GRCm39) |
D7E |
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,608,565 (GRCm39) |
K153M |
probably damaging |
Het |
| Slc30a2 |
A |
T |
4: 134,071,359 (GRCm39) |
I31F |
probably benign |
Het |
| Slco3a1 |
G |
T |
7: 74,009,586 (GRCm39) |
A243E |
probably damaging |
Het |
| Stab2 |
G |
A |
10: 86,838,847 (GRCm39) |
T73I |
probably benign |
Het |
| Sufu |
G |
A |
19: 46,438,411 (GRCm39) |
|
probably null |
Het |
| Sync |
C |
T |
4: 129,187,519 (GRCm39) |
Q184* |
probably null |
Het |
| Tnpo1 |
A |
T |
13: 98,989,407 (GRCm39) |
I765N |
probably damaging |
Het |
| Ube2d2b |
A |
T |
5: 107,978,747 (GRCm39) |
K133* |
probably null |
Het |
| Ulk3 |
C |
T |
9: 57,499,650 (GRCm39) |
S217L |
possibly damaging |
Het |
| Upf2 |
C |
A |
2: 5,966,516 (GRCm39) |
Q379K |
unknown |
Het |
| Vegfc |
T |
A |
8: 54,530,824 (GRCm39) |
L4Q |
unknown |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,147 (GRCm39) |
I708N |
probably damaging |
Het |
|
| Other mutations in Tnfrsf25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Tnfrsf25
|
APN |
4 |
152,202,885 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02324:Tnfrsf25
|
APN |
4 |
152,203,779 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03143:Tnfrsf25
|
APN |
4 |
152,201,384 (GRCm39) |
unclassified |
probably benign |
|
|
hatikva
|
UTSW |
4 |
152,204,084 (GRCm39) |
splice site |
probably null |
|
|
R0103:Tnfrsf25
|
UTSW |
4 |
152,201,405 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0103:Tnfrsf25
|
UTSW |
4 |
152,201,405 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1067:Tnfrsf25
|
UTSW |
4 |
152,202,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Tnfrsf25
|
UTSW |
4 |
152,202,761 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1784:Tnfrsf25
|
UTSW |
4 |
152,202,761 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1799:Tnfrsf25
|
UTSW |
4 |
152,201,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4003:Tnfrsf25
|
UTSW |
4 |
152,204,058 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4411:Tnfrsf25
|
UTSW |
4 |
152,202,843 (GRCm39) |
unclassified |
probably benign |
|
|
R4997:Tnfrsf25
|
UTSW |
4 |
152,202,153 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6436:Tnfrsf25
|
UTSW |
4 |
152,204,084 (GRCm39) |
splice site |
probably null |
|
|
R7971:Tnfrsf25
|
UTSW |
4 |
152,204,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8164:Tnfrsf25
|
UTSW |
4 |
152,201,877 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8412:Tnfrsf25
|
UTSW |
4 |
152,204,139 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9089:Tnfrsf25
|
UTSW |
4 |
152,201,929 (GRCm39) |
nonsense |
probably null |
|
|
RF009:Tnfrsf25
|
UTSW |
4 |
152,204,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Tnfrsf25
|
UTSW |
4 |
152,201,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tnfrsf25
|
UTSW |
4 |
152,203,678 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1177:Tnfrsf25
|
UTSW |
4 |
152,202,096 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTACGATGTGATGGATGCGG -3'
(R):5'- CATGACGCTTCCCTTAGCAG -3'
Sequencing Primer
(F):5'- ATGCGGTCCCAGCACGAAG -3'
(R):5'- TCCGTGCTGCAGATAAGC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation