Incidental Mutation 'R5570:Espn'
ID |
435602 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Espn
|
Ensembl Gene |
ENSMUSG00000028943 |
Gene Name |
espin |
Synonyms |
|
MMRRC Submission |
043127-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.280)
|
Stock # |
R5570 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
152204788-152236828 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 152208237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 460
(E460G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081131
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025706]
[ENSMUST00000030785]
[ENSMUST00000035275]
[ENSMUST00000049305]
[ENSMUST00000070018]
[ENSMUST00000080042]
[ENSMUST00000084114]
[ENSMUST00000135185]
[ENSMUST00000103196]
[ENSMUST00000105654]
[ENSMUST00000105655]
[ENSMUST00000105656]
[ENSMUST00000105658]
[ENSMUST00000105659]
[ENSMUST00000105653]
[ENSMUST00000105657]
[ENSMUST00000207676]
|
AlphaFold |
Q9ET47 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025706
|
SMART Domains |
Protein: ENSMUSP00000025706 Gene: ENSMUSG00000024793
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 damaging
Transcript: ENSMUST00000030785
AA Change: E798G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030785 Gene: ENSMUSG00000028943 AA Change: E798G
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: ENSMUST00000035275
|
SMART Domains |
Protein: ENSMUSP00000047823 Gene: ENSMUSG00000024793
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 damaging
Transcript: ENSMUST00000049305
AA Change: E180G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000037982 Gene: ENSMUSG00000028943 AA Change: E180G
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 damaging
Transcript: ENSMUST00000070018
AA Change: E451G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000065545 Gene: ENSMUSG00000028943 AA Change: E451G
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 damaging
Transcript: ENSMUST00000080042
AA Change: E379G
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000078951 Gene: ENSMUSG00000028943 AA Change: E379G
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 damaging
Transcript: ENSMUST00000084114
AA Change: E460G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081131 Gene: ENSMUSG00000028943 AA Change: E460G
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 |
probably damaging
Transcript: ENSMUST00000135185
AA Change: E679G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000122464 Gene: ENSMUSG00000028943 AA Change: E679G
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 damaging
Transcript: ENSMUST00000103196
AA Change: E367G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099485 Gene: ENSMUSG00000028943 AA Change: E367G
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 damaging
Transcript: ENSMUST00000105654
AA Change: E448G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101279 Gene: ENSMUSG00000028943 AA Change: E448G
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 |
possibly damaging
Transcript: ENSMUST00000105655
AA Change: E376G
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000101280 Gene: ENSMUSG00000028943 AA Change: E376G
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 damaging
Transcript: ENSMUST00000105656
AA Change: E457G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101281 Gene: ENSMUSG00000028943 AA Change: E457G
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: ENSMUST00000105658
AA Change: E775G
PolyPhen 2
Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000101283 Gene: ENSMUSG00000028943 AA Change: E775G
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 damaging
Transcript: ENSMUST00000105659
AA Change: E808G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101284 Gene: ENSMUSG00000028943 AA Change: E808G
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 |
noncoding transcript
Transcript: ENSMUST00000136627
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150958
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105653
AA Change: E212G
PolyPhen 2
Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000101278 Gene: ENSMUSG00000028943 AA Change: E212G
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 damaging
Transcript: ENSMUST00000105657
AA Change: E370G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101282 Gene: ENSMUSG00000028943 AA Change: E370G
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 |
noncoding transcript
Transcript: ENSMUST00000153619
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148075
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137937
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156517
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207676
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.5%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acrv1 |
C |
A |
9: 36,605,577 (GRCm39) |
S41R |
probably damaging |
Het |
Aqr |
G |
A |
2: 113,979,451 (GRCm39) |
T328M |
probably damaging |
Het |
Arhgap26 |
C |
A |
18: 39,232,671 (GRCm39) |
D99E |
probably damaging |
Het |
Boc |
G |
A |
16: 44,313,187 (GRCm39) |
T559I |
probably damaging |
Het |
Cadps |
A |
T |
14: 12,473,497 (GRCm38) |
I876N |
possibly damaging |
Het |
Cep72 |
T |
C |
13: 74,188,260 (GRCm39) |
Q211R |
probably benign |
Het |
Clmp |
T |
C |
9: 40,683,826 (GRCm39) |
|
probably null |
Het |
Coq6 |
T |
A |
12: 84,415,413 (GRCm39) |
D145E |
probably benign |
Het |
Crym |
T |
C |
7: 119,801,116 (GRCm39) |
E11G |
probably benign |
Het |
Defb36 |
T |
A |
2: 152,454,503 (GRCm39) |
V54E |
probably damaging |
Het |
Dlg5 |
C |
A |
14: 24,242,981 (GRCm39) |
E55* |
probably null |
Het |
Dock2 |
G |
T |
11: 34,618,233 (GRCm39) |
R128S |
probably damaging |
Het |
E330034G19Rik |
A |
G |
14: 24,346,892 (GRCm39) |
K60E |
possibly damaging |
Het |
Eps8l2 |
G |
A |
7: 140,934,920 (GRCm39) |
R76Q |
possibly damaging |
Het |
Fbxl18 |
A |
G |
5: 142,881,022 (GRCm39) |
|
probably benign |
Het |
Fgd5 |
T |
C |
6: 91,965,668 (GRCm39) |
S476P |
probably damaging |
Het |
Gsto1 |
T |
C |
19: 47,846,338 (GRCm39) |
W62R |
probably damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Gxylt1 |
A |
G |
15: 93,152,180 (GRCm39) |
|
probably null |
Het |
Hs6st1 |
C |
T |
1: 36,142,719 (GRCm39) |
P218L |
probably benign |
Het |
Kif5c |
A |
G |
2: 49,620,211 (GRCm39) |
D226G |
possibly damaging |
Het |
Krt1 |
A |
G |
15: 101,755,340 (GRCm39) |
F473S |
probably benign |
Het |
Lpxn |
T |
A |
19: 12,810,023 (GRCm39) |
M265K |
possibly damaging |
Het |
Map3k9 |
A |
G |
12: 81,778,798 (GRCm39) |
L505P |
possibly damaging |
Het |
Mcm3ap |
C |
T |
10: 76,316,930 (GRCm39) |
R645W |
possibly damaging |
Het |
Msr1 |
T |
C |
8: 40,064,760 (GRCm39) |
I305V |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,598,066 (GRCm39) |
E3237G |
possibly damaging |
Het |
Necap1 |
T |
C |
6: 122,858,471 (GRCm39) |
F105L |
probably damaging |
Het |
Nploc4 |
C |
T |
11: 120,275,440 (GRCm39) |
V499M |
probably benign |
Het |
Nup93 |
T |
C |
8: 95,041,298 (GRCm39) |
V812A |
probably damaging |
Het |
Or10ak7 |
T |
A |
4: 118,791,263 (GRCm39) |
I259F |
possibly damaging |
Het |
Or6e1 |
A |
G |
14: 54,519,825 (GRCm39) |
F176L |
probably damaging |
Het |
Or9g3 |
G |
A |
2: 85,589,994 (GRCm39) |
S242F |
probably damaging |
Het |
Parn |
G |
A |
16: 13,483,794 (GRCm39) |
P50L |
probably damaging |
Het |
Pcdhb7 |
T |
C |
18: 37,477,224 (GRCm39) |
C787R |
probably benign |
Het |
Pdk2 |
A |
T |
11: 94,920,826 (GRCm39) |
I175N |
probably damaging |
Het |
Pelo |
T |
C |
13: 115,226,152 (GRCm39) |
I102V |
probably benign |
Het |
Phf12 |
A |
G |
11: 77,908,937 (GRCm39) |
D339G |
possibly damaging |
Het |
Phlpp1 |
A |
T |
1: 106,101,162 (GRCm39) |
I477F |
probably benign |
Het |
Pigt |
T |
A |
2: 164,343,482 (GRCm39) |
Y319* |
probably null |
Het |
Pmpca |
A |
G |
2: 26,280,553 (GRCm39) |
E133G |
probably damaging |
Het |
Ptgs2 |
A |
G |
1: 149,979,859 (GRCm39) |
I321M |
|
Het |
Pus7l |
G |
A |
15: 94,425,746 (GRCm39) |
P552S |
probably benign |
Het |
Qsox2 |
A |
G |
2: 26,115,230 (GRCm39) |
M1T |
probably null |
Het |
Rara |
C |
G |
11: 98,863,478 (GRCm39) |
R382G |
probably damaging |
Het |
Rbbp6 |
A |
G |
7: 122,601,057 (GRCm39) |
|
probably benign |
Het |
Rev3l |
T |
C |
10: 39,728,071 (GRCm39) |
|
probably null |
Het |
Robo3 |
T |
A |
9: 37,336,571 (GRCm39) |
Y399F |
possibly damaging |
Het |
Rpl31 |
C |
T |
1: 39,409,108 (GRCm39) |
R41C |
probably benign |
Het |
Skint3 |
A |
G |
4: 112,092,995 (GRCm39) |
M20V |
probably benign |
Het |
Slc17a6 |
A |
G |
7: 51,308,504 (GRCm39) |
D276G |
probably benign |
Het |
Sult3a2 |
A |
T |
10: 33,654,268 (GRCm39) |
V128D |
probably damaging |
Het |
Syt3 |
T |
A |
7: 44,040,043 (GRCm39) |
V92E |
possibly damaging |
Het |
Them7 |
A |
G |
2: 105,209,153 (GRCm39) |
T158A |
probably benign |
Het |
Utp14b |
G |
A |
1: 78,643,118 (GRCm39) |
D339N |
probably damaging |
Het |
Vars1 |
T |
C |
17: 35,235,214 (GRCm39) |
F1259L |
probably benign |
Het |
Vmn1r115 |
A |
C |
7: 20,578,555 (GRCm39) |
V119G |
possibly damaging |
Het |
Zc3h12a |
C |
T |
4: 125,014,166 (GRCm39) |
R293H |
probably damaging |
Het |
Zfp638 |
A |
T |
6: 83,956,170 (GRCm39) |
E1592D |
probably damaging |
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 |
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 |
R9607:Espn
|
UTSW |
4 |
152,219,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGACCATACTTACCGCTTCTG -3'
(R):5'- CAAACTGGTTAGGGTCACTGG -3'
Sequencing Primer
(F):5'- CTTCTGCTCCCTGGAGAGAGAAAG -3'
(R):5'- GCCTACATAGTCTGTCACCAAGATTG -3'
|
Posted On |
2016-10-24 |