Incidental Mutation 'R9607:Espn'
| ID |
723922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Espn
|
| Ensembl Gene |
ENSMUSG00000028943 |
| Gene Name |
espin |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.280)
|
| Stock # |
R9607 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152204788-152236828 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152219939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 395
(S395P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030785]
[ENSMUST00000070018]
[ENSMUST00000080042]
[ENSMUST00000084114]
[ENSMUST00000103196]
[ENSMUST00000105653]
[ENSMUST00000105654]
[ENSMUST00000105655]
[ENSMUST00000105656]
[ENSMUST00000105657]
[ENSMUST00000105658]
[ENSMUST00000105659]
[ENSMUST00000135185]
[ENSMUST00000207676]
|
| AlphaFold |
Q9ET47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030785
AA Change: S395P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030785
Gene: ENSMUSG00000028943
AA Change: S395P
| 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 benign
Transcript: ENSMUST00000070018
AA Change: S68P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000065545
Gene: ENSMUSG00000028943
AA Change: S68P
| 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 |
possibly damaging
Transcript: ENSMUST00000080042
AA Change: S68P
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078951
Gene: ENSMUSG00000028943
AA Change: S68P
| 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
AA Change: S68P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000081131
Gene: ENSMUSG00000028943
AA Change: S68P
| 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 |
possibly damaging
Transcript: ENSMUST00000103196
AA Change: S68P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099485
Gene: ENSMUSG00000028943
AA Change: S68P
| 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: 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: ENSMUST00000105654
AA Change: S68P
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101279
Gene: ENSMUSG00000028943
AA Change: S68P
| 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: ENSMUST00000105655
AA Change: S68P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101280
Gene: ENSMUSG00000028943
AA Change: S68P
| 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 |
possibly damaging
Transcript: ENSMUST00000105656
AA Change: S68P
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101281
Gene: ENSMUSG00000028943
AA Change: S68P
| 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 |
possibly damaging
Transcript: ENSMUST00000105657
AA Change: S68P
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101282
Gene: ENSMUSG00000028943
AA Change: S68P
| 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: ENSMUST00000105658
AA Change: S395P
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101283
Gene: ENSMUSG00000028943
AA Change: S395P
| 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 |
probably benign
Transcript: ENSMUST00000105659
AA Change: S395P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101284
Gene: ENSMUSG00000028943
AA Change: S395P
| 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: ENSMUST00000135185
AA Change: S297P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122464
Gene: ENSMUSG00000028943
AA Change: S297P
| 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: ENSMUST00000207676
AA Change: S395P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit progressive degeneration of both inner and outer hair cells, severe deafness, vestibular dysfunction, and poor mothering ability. Heterozygotes show a progressive, age-related hearing loss. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,914,068 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
T |
C |
5: 67,817,250 (GRCm39) |
Y927C |
|
Het |
| Bckdhb |
A |
G |
9: 83,871,344 (GRCm39) |
I208V |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,356,714 (GRCm39) |
I141V |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,915,229 (GRCm39) |
S915P |
|
Het |
| Celsr3 |
G |
A |
9: 108,717,701 (GRCm39) |
|
probably null |
Het |
| Cep295 |
A |
T |
9: 15,234,009 (GRCm39) |
D2262E |
probably damaging |
Het |
| Chil3 |
T |
C |
3: 106,067,685 (GRCm39) |
K160R |
probably null |
Het |
| Cmtr1 |
G |
T |
17: 29,893,196 (GRCm39) |
A72S |
probably benign |
Het |
| Cpa5 |
T |
C |
6: 30,626,338 (GRCm39) |
F233S |
probably damaging |
Het |
| Creb3l3 |
G |
A |
10: 80,920,735 (GRCm39) |
R432W |
probably damaging |
Het |
| Csdc2 |
A |
G |
15: 81,831,088 (GRCm39) |
D45G |
possibly damaging |
Het |
| Csmd3 |
G |
T |
15: 47,618,811 (GRCm39) |
T1859K |
probably damaging |
Het |
| Cxxc1 |
T |
C |
18: 74,353,479 (GRCm39) |
|
probably null |
Het |
| Dcc |
A |
G |
18: 71,721,072 (GRCm39) |
S430P |
probably damaging |
Het |
| Dera |
T |
G |
6: 137,833,732 (GRCm39) |
S270A |
unknown |
Het |
| Dnaaf1 |
A |
G |
8: 120,309,350 (GRCm39) |
E146G |
possibly damaging |
Het |
| Dsg4 |
A |
T |
18: 20,586,047 (GRCm39) |
T246S |
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,893,045 (GRCm39) |
E766G |
probably benign |
Het |
| Ep400 |
A |
C |
5: 110,831,805 (GRCm39) |
C2146G |
unknown |
Het |
| Epas1 |
A |
T |
17: 87,134,038 (GRCm39) |
T516S |
probably benign |
Het |
| Fam124b |
T |
A |
1: 80,190,813 (GRCm39) |
Q190L |
probably damaging |
Het |
| Filip1 |
T |
A |
9: 79,726,402 (GRCm39) |
D739V |
probably damaging |
Het |
| Flg2 |
A |
G |
3: 93,108,719 (GRCm39) |
Y249C |
probably damaging |
Het |
| Gon4l |
T |
A |
3: 88,765,751 (GRCm39) |
S391T |
probably damaging |
Het |
| Hoxa5 |
G |
T |
6: 52,181,196 (GRCm39) |
Y45* |
probably null |
Het |
| Ift172 |
A |
G |
5: 31,410,913 (GRCm39) |
F1715S |
|
Het |
| Klhdc9 |
T |
A |
1: 171,187,124 (GRCm39) |
H262L |
probably damaging |
Het |
| Krt16 |
C |
A |
11: 100,138,453 (GRCm39) |
D232Y |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,901,561 (GRCm39) |
E622G |
probably damaging |
Het |
| Mars1 |
A |
T |
10: 127,144,493 (GRCm39) |
C182* |
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Msrb2 |
C |
A |
2: 19,399,130 (GRCm39) |
N164K |
probably damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,869,488 (GRCm39) |
E1049A |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,305,190 (GRCm39) |
C604S |
|
Het |
| Mup17 |
T |
C |
4: 61,511,903 (GRCm39) |
I124V |
probably benign |
Het |
| Myo18b |
T |
C |
5: 113,022,544 (GRCm39) |
M283V |
unknown |
Het |
| Ndn |
C |
T |
7: 61,998,337 (GRCm39) |
P61L |
possibly damaging |
Het |
| Nepro |
T |
C |
16: 44,551,832 (GRCm39) |
L230P |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,883,513 (GRCm39) |
N591D |
probably benign |
Het |
| Nfrkb |
T |
C |
9: 31,326,066 (GRCm39) |
S1170P |
possibly damaging |
Het |
| Nphs1 |
A |
T |
7: 30,163,012 (GRCm39) |
T430S |
probably damaging |
Het |
| Nrp1 |
T |
C |
8: 129,152,262 (GRCm39) |
V157A |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,197,724 (GRCm39) |
D259E |
probably benign |
Het |
| Or52n5 |
T |
C |
7: 104,588,207 (GRCm39) |
M158T |
probably benign |
Het |
| Or5b109 |
A |
T |
19: 13,211,953 (GRCm39) |
N113I |
|
Het |
| Or8b1c |
A |
G |
9: 38,384,913 (GRCm39) |
Y290C |
probably damaging |
Het |
| Or9s18 |
G |
T |
13: 65,300,885 (GRCm39) |
M282I |
probably benign |
Het |
| Pcdha8 |
T |
A |
18: 37,126,217 (GRCm39) |
L233Q |
probably damaging |
Het |
| Pcdhga12 |
T |
A |
18: 37,901,389 (GRCm39) |
F740L |
probably damaging |
Het |
| Pglyrp4 |
G |
A |
3: 90,638,151 (GRCm39) |
G155D |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,519,347 (GRCm39) |
|
probably benign |
Het |
| Pirb |
G |
A |
7: 3,720,617 (GRCm39) |
R294C |
possibly damaging |
Het |
| Ppil1 |
A |
T |
17: 29,470,481 (GRCm39) |
*167K |
probably null |
Het |
| Prdm10 |
G |
T |
9: 31,260,486 (GRCm39) |
D647Y |
probably damaging |
Het |
| Prkn |
A |
G |
17: 12,222,963 (GRCm39) |
Y371C |
probably damaging |
Het |
| Prrc2b |
T |
A |
2: 32,098,794 (GRCm39) |
I702N |
probably damaging |
Het |
| Rnf26rt |
A |
T |
6: 76,473,923 (GRCm39) |
L231* |
probably null |
Het |
| Rtp4 |
T |
A |
16: 23,339,226 (GRCm39) |
|
probably null |
Het |
| Sema6c |
A |
G |
3: 95,076,545 (GRCm39) |
H277R |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,119,631 (GRCm39) |
L377P |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,058,126 (GRCm39) |
Y630H |
possibly damaging |
Het |
| Tbata |
A |
G |
10: 61,011,626 (GRCm39) |
H54R |
probably benign |
Het |
| Tnfaip2 |
C |
A |
12: 111,412,069 (GRCm39) |
Q157K |
possibly damaging |
Het |
| Trappc14 |
T |
C |
5: 138,259,862 (GRCm39) |
D398G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Vmn2r74 |
T |
A |
7: 85,610,619 (GRCm39) |
R24S |
probably benign |
Het |
| Vmn2r90 |
G |
A |
17: 17,953,638 (GRCm39) |
V601M |
possibly damaging |
Het |
| Vmn2r-ps117 |
A |
G |
17: 19,043,940 (GRCm39) |
T339A |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,341,106 (GRCm39) |
H1116Y |
possibly damaging |
Het |
| Xrcc1 |
A |
G |
7: 24,265,690 (GRCm39) |
D156G |
probably benign |
Het |
|
| Other mutations in Espn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Espn
|
APN |
4 |
152,220,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01404:Espn
|
APN |
4 |
152,222,901 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01576:Espn
|
APN |
4 |
152,208,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Espn
|
UTSW |
4 |
152,223,609 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1475:Espn
|
UTSW |
4 |
152,218,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Espn
|
UTSW |
4 |
152,212,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Espn
|
UTSW |
4 |
152,213,012 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2014:Espn
|
UTSW |
4 |
152,217,416 (GRCm39) |
splice site |
probably null |
|
|
R2049:Espn
|
UTSW |
4 |
152,205,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2281:Espn
|
UTSW |
4 |
152,220,002 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4278:Espn
|
UTSW |
4 |
152,218,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4527:Espn
|
UTSW |
4 |
152,220,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4539:Espn
|
UTSW |
4 |
152,218,665 (GRCm39) |
nonsense |
probably null |
|
|
R4621:Espn
|
UTSW |
4 |
152,215,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Espn
|
UTSW |
4 |
152,222,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4860:Espn
|
UTSW |
4 |
152,223,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4860:Espn
|
UTSW |
4 |
152,223,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4998:Espn
|
UTSW |
4 |
152,220,040 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5412:Espn
|
UTSW |
4 |
152,212,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5570:Espn
|
UTSW |
4 |
152,208,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6549:Espn
|
UTSW |
4 |
152,215,525 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R6551:Espn
|
UTSW |
4 |
152,213,223 (GRCm39) |
|
|
|
|
R7124:Espn
|
UTSW |
4 |
152,215,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7838:Espn
|
UTSW |
4 |
152,215,738 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7863:Espn
|
UTSW |
4 |
152,236,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8236:Espn
|
UTSW |
4 |
152,233,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8948:Espn
|
UTSW |
4 |
152,223,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9234:Espn
|
UTSW |
4 |
152,217,380 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9550:Espn
|
UTSW |
4 |
152,215,534 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGCTTAGCACCGAGATCACC -3'
(R):5'- GCTTGGAACACCGAGTCTTG -3'
Sequencing Primer
(F):5'- AGATCACCGAGTCATGTGTTGGAC -3'
(R):5'- GAGTCTTGTCCCGGGATCAATC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation