Incidental Mutation 'R8880:Epb41'
| ID |
676827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epb41
|
| Ensembl Gene |
ENSMUSG00000028906 |
| Gene Name |
erythrocyte membrane protein band 4.1 |
| Synonyms |
4.1R, Epb4.1, Elp1, Elp-1, D4Ertd442e |
| MMRRC Submission |
068748-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8880 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
131650724-131802632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 131695104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 28
(W28R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030739]
[ENSMUST00000054917]
[ENSMUST00000084253]
[ENSMUST00000105970]
[ENSMUST00000105972]
[ENSMUST00000105974]
[ENSMUST00000105975]
[ENSMUST00000105981]
[ENSMUST00000137846]
[ENSMUST00000141291]
|
| AlphaFold |
P48193 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030739
AA Change: W608R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906
AA Change: W608R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
121 |
N/A |
INTRINSIC |
|
B41
|
207 |
402 |
1.3e-80 |
SMART |
|
FERM_C
|
406 |
496 |
1.01e-35 |
SMART |
|
FA
|
499 |
545 |
8.99e-19 |
SMART |
|
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
661 |
709 |
1.8e-29 |
PFAM |
|
Pfam:4_1_CTD
|
741 |
855 |
3.5e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054917
AA Change: W608R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906
AA Change: W608R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
121 |
N/A |
INTRINSIC |
|
B41
|
207 |
402 |
1.3e-80 |
SMART |
|
FERM_C
|
406 |
496 |
1.01e-35 |
SMART |
|
FA
|
499 |
545 |
8.99e-19 |
SMART |
|
Pfam:SAB
|
607 |
655 |
2.3e-28 |
PFAM |
|
Pfam:4_1_CTD
|
687 |
801 |
3.2e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084253
AA Change: W608R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906
AA Change: W608R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
121 |
N/A |
INTRINSIC |
|
B41
|
207 |
402 |
1.3e-80 |
SMART |
|
FERM_C
|
406 |
496 |
1.01e-35 |
SMART |
|
FA
|
499 |
545 |
8.99e-19 |
SMART |
|
Pfam:SAB
|
607 |
655 |
2.3e-28 |
PFAM |
|
Pfam:4_1_CTD
|
687 |
801 |
3.2e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105970
AA Change: W456R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906
AA Change: W456R
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
55 |
250 |
1.3e-80 |
SMART |
|
FERM_C
|
254 |
344 |
1.01e-35 |
SMART |
|
FA
|
347 |
393 |
8.99e-19 |
SMART |
|
low complexity region
|
437 |
459 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
476 |
524 |
1.1e-29 |
PFAM |
|
Pfam:4_1_CTD
|
578 |
636 |
1.4e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105972
AA Change: W608R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906
AA Change: W608R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
121 |
N/A |
INTRINSIC |
|
B41
|
207 |
402 |
1.3e-80 |
SMART |
|
FERM_C
|
406 |
496 |
1.01e-35 |
SMART |
|
FA
|
499 |
545 |
8.99e-19 |
SMART |
|
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
661 |
709 |
1.8e-29 |
PFAM |
|
Pfam:4_1_CTD
|
741 |
855 |
3.5e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105974
AA Change: W573R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101594
Gene: ENSMUSG00000028906
AA Change: W573R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
121 |
N/A |
INTRINSIC |
|
B41
|
207 |
367 |
3.77e-50 |
SMART |
|
FERM_C
|
371 |
461 |
1.01e-35 |
SMART |
|
FA
|
464 |
510 |
8.99e-19 |
SMART |
|
Pfam:SAB
|
572 |
620 |
2e-28 |
PFAM |
|
Pfam:4_1_CTD
|
652 |
766 |
3e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105975
AA Change: W633R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906
AA Change: W633R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
121 |
N/A |
INTRINSIC |
|
B41
|
232 |
427 |
1.3e-80 |
SMART |
|
FERM_C
|
431 |
521 |
1.01e-35 |
SMART |
|
FA
|
524 |
570 |
8.99e-19 |
SMART |
|
low complexity region
|
619 |
632 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
672 |
720 |
3.9e-25 |
PFAM |
|
Pfam:4_1_CTD
|
758 |
865 |
2.6e-51 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000121764
Gene: ENSMUSG00000028906
AA Change: W28R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAB
|
28 |
76 |
2e-24 |
PFAM |
|
low complexity region
|
148 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
217 |
N/A |
INTRINSIC |
|
Pfam:4_1_CTD
|
264 |
371 |
6.6e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105981
AA Change: W608R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906
AA Change: W608R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
121 |
N/A |
INTRINSIC |
|
B41
|
207 |
402 |
1.3e-80 |
SMART |
|
FERM_C
|
406 |
496 |
1.01e-35 |
SMART |
|
FA
|
499 |
545 |
8.99e-19 |
SMART |
|
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
661 |
709 |
1.8e-29 |
PFAM |
|
Pfam:4_1_CTD
|
741 |
855 |
3.5e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137846
AA Change: W450R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906
AA Change: W450R
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
49 |
244 |
1.3e-80 |
SMART |
|
FERM_C
|
248 |
338 |
1.01e-35 |
SMART |
|
FA
|
341 |
387 |
8.99e-19 |
SMART |
|
low complexity region
|
431 |
453 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
470 |
518 |
1.2e-29 |
PFAM |
|
Pfam:4_1_CTD
|
550 |
664 |
2.5e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141291
AA Change: W608R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906
AA Change: W608R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
121 |
N/A |
INTRINSIC |
|
B41
|
207 |
402 |
1.3e-80 |
SMART |
|
FERM_C
|
406 |
496 |
1.01e-35 |
SMART |
|
FA
|
499 |
545 |
8.99e-19 |
SMART |
|
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
647 |
695 |
1.3e-29 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000122234
Gene: ENSMUSG00000028906
AA Change: W18R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
53 |
101 |
7e-26 |
PFAM |
|
Pfam:4_1_CTD
|
139 |
246 |
2.8e-52 |
PFAM |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (82/82) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit moderate hemolytic anemia, erythrocytic abnormalities including aberrant morphology, reduced membrane stability, and lowered expression of spectrin and ankyrin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
T |
14: 32,382,837 (GRCm39) |
V1043I |
probably benign |
Het |
| 5031439G07Rik |
T |
A |
15: 84,839,867 (GRCm39) |
I176F |
possibly damaging |
Het |
| Adam6b |
T |
A |
12: 113,454,764 (GRCm39) |
M527K |
probably benign |
Het |
| Atp10b |
C |
T |
11: 43,106,811 (GRCm39) |
T615I |
probably benign |
Het |
| Atxn2 |
A |
G |
5: 121,948,973 (GRCm39) |
T1117A |
probably benign |
Het |
| AU021092 |
A |
T |
16: 5,032,585 (GRCm39) |
|
probably benign |
Het |
| Bcam |
C |
T |
7: 19,492,671 (GRCm39) |
V505M |
probably damaging |
Het |
| Bco2 |
A |
T |
9: 50,461,962 (GRCm39) |
L14Q |
probably damaging |
Het |
| Caps2 |
T |
G |
10: 112,030,824 (GRCm39) |
|
probably benign |
Het |
| Cblb |
T |
C |
16: 51,986,368 (GRCm39) |
V537A |
probably benign |
Het |
| Ccdc141 |
A |
T |
2: 76,845,556 (GRCm39) |
N1170K |
probably benign |
Het |
| Ccdc154 |
T |
G |
17: 25,389,129 (GRCm39) |
D442E |
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,019,798 (GRCm39) |
I60V |
probably null |
Het |
| Crb1 |
A |
T |
1: 139,164,886 (GRCm39) |
N1140K |
probably benign |
Het |
| Ddhd1 |
G |
A |
14: 45,846,430 (GRCm39) |
P621S |
probably benign |
Het |
| Ddx46 |
A |
T |
13: 55,814,033 (GRCm39) |
N663I |
probably benign |
Het |
| Dgki |
C |
T |
6: 37,011,652 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,621,239 (GRCm39) |
F657S |
probably damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,973,670 (GRCm39) |
E262G |
probably damaging |
Het |
| Dvl2 |
T |
A |
11: 69,898,761 (GRCm39) |
L408Q |
possibly damaging |
Het |
| Egflam |
T |
C |
15: 7,267,249 (GRCm39) |
D712G |
probably damaging |
Het |
| Entpd7 |
A |
G |
19: 43,692,846 (GRCm39) |
|
probably benign |
Het |
| Fabp9 |
C |
T |
3: 10,262,231 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
T |
A |
4: 62,232,602 (GRCm39) |
M657L |
probably benign |
Het |
| Gfy |
A |
C |
7: 44,827,784 (GRCm39) |
L104R |
possibly damaging |
Het |
| Gm4884 |
A |
T |
7: 40,693,911 (GRCm39) |
I627F |
probably damaging |
Het |
| Gm9195 |
A |
T |
14: 72,691,320 (GRCm39) |
S1643T |
unknown |
Het |
| Gpsm2 |
C |
T |
3: 108,610,335 (GRCm39) |
A42T |
possibly damaging |
Het |
| Gvin2 |
T |
C |
7: 105,551,120 (GRCm39) |
K644R |
probably benign |
Het |
| Gys2 |
T |
C |
6: 142,402,113 (GRCm39) |
Y242C |
probably damaging |
Het |
| Hbs1l |
A |
G |
10: 21,185,868 (GRCm39) |
N430S |
probably damaging |
Het |
| Idh3b |
A |
T |
2: 130,126,004 (GRCm39) |
|
probably benign |
Het |
| Igdcc3 |
C |
T |
9: 65,088,550 (GRCm39) |
A384V |
probably benign |
Het |
| Ighv3-4 |
C |
T |
12: 114,217,535 (GRCm39) |
D19N |
possibly damaging |
Het |
| Igkv19-93 |
G |
T |
6: 68,713,494 (GRCm39) |
A45E |
probably damaging |
Het |
| Il10ra |
G |
A |
9: 45,175,631 (GRCm39) |
T230M |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,038,305 (GRCm39) |
V1009A |
probably damaging |
Het |
| Kcnma1 |
G |
T |
14: 23,417,718 (GRCm39) |
A837D |
probably damaging |
Het |
| Kif7 |
T |
A |
7: 79,348,650 (GRCm39) |
R1231S |
probably benign |
Het |
| Klhdc1 |
A |
G |
12: 69,298,817 (GRCm39) |
D134G |
possibly damaging |
Het |
| Klk14 |
T |
C |
7: 43,343,459 (GRCm39) |
V97A |
probably damaging |
Het |
| Lamb3 |
G |
A |
1: 193,003,363 (GRCm39) |
V101M |
possibly damaging |
Het |
| Lrrc7 |
C |
T |
3: 157,867,381 (GRCm39) |
E787K |
probably damaging |
Het |
| Mep1a |
A |
G |
17: 43,808,808 (GRCm39) |
I94T |
possibly damaging |
Het |
| Mtrex |
T |
A |
13: 113,051,034 (GRCm39) |
K180N |
probably benign |
Het |
| Ncr1 |
C |
T |
7: 4,341,336 (GRCm39) |
S109L |
probably benign |
Het |
| Nell2 |
A |
T |
15: 95,129,329 (GRCm39) |
M678K |
probably damaging |
Het |
| Or12j5 |
C |
A |
7: 140,084,172 (GRCm39) |
A67S |
probably benign |
Het |
| Or14c42-ps1 |
G |
A |
7: 86,211,549 (GRCm39) |
C203Y |
unknown |
Het |
| Or2m13 |
A |
T |
16: 19,226,396 (GRCm39) |
Y123* |
probably null |
Het |
| Or8g19 |
T |
A |
9: 39,055,899 (GRCm39) |
F168I |
probably damaging |
Het |
| Pnpla1 |
A |
C |
17: 29,098,438 (GRCm39) |
Y248S |
probably damaging |
Het |
| Pramel27 |
T |
C |
4: 143,573,140 (GRCm39) |
|
probably null |
Het |
| Prdm10 |
T |
C |
9: 31,264,742 (GRCm39) |
F726L |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,613,370 (GRCm39) |
N19S |
probably damaging |
Het |
| Prss44 |
A |
G |
9: 110,643,263 (GRCm39) |
R53G |
probably benign |
Het |
| Rasgrp1 |
C |
T |
2: 117,115,425 (GRCm39) |
R721Q |
probably benign |
Het |
| Rassf1 |
A |
T |
9: 107,434,740 (GRCm39) |
N149I |
probably damaging |
Het |
| Rbp3 |
A |
C |
14: 33,678,796 (GRCm39) |
T915P |
probably benign |
Het |
| Reg3g |
A |
T |
6: 78,444,788 (GRCm39) |
D63E |
probably benign |
Het |
| Relch |
T |
C |
1: 105,592,220 (GRCm39) |
Y130H |
probably damaging |
Het |
| Rgs3 |
C |
A |
4: 62,543,373 (GRCm39) |
T236K |
probably damaging |
Het |
| Rin2 |
T |
C |
2: 145,690,772 (GRCm39) |
F147L |
probably damaging |
Het |
| Slc17a1 |
T |
C |
13: 24,062,732 (GRCm39) |
I266T |
probably benign |
Het |
| Slc34a3 |
A |
T |
2: 25,119,267 (GRCm39) |
N534K |
probably benign |
Het |
| Smc2 |
A |
T |
4: 52,462,856 (GRCm39) |
E615D |
probably benign |
Het |
| Snx16 |
A |
C |
3: 10,484,193 (GRCm39) |
D343E |
probably benign |
Het |
| St18 |
T |
A |
1: 6,865,619 (GRCm39) |
Y32* |
probably null |
Het |
| Svep1 |
C |
T |
4: 58,064,204 (GRCm39) |
V3260I |
possibly damaging |
Het |
| Synm |
C |
T |
7: 67,386,456 (GRCm39) |
R402H |
possibly damaging |
Het |
| Tacc2 |
A |
T |
7: 130,318,564 (GRCm39) |
E67V |
possibly damaging |
Het |
| Tarbp1 |
G |
T |
8: 127,198,044 (GRCm39) |
N302K |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,942,788 (GRCm39) |
S1294P |
probably damaging |
Het |
| Ttk |
T |
C |
9: 83,751,304 (GRCm39) |
S794P |
probably damaging |
Het |
| Ulk1 |
G |
A |
5: 110,934,288 (GRCm39) |
A999V |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,030,983 (GRCm39) |
I808V |
unknown |
Het |
| Ush2a |
A |
G |
1: 188,460,733 (GRCm39) |
T2665A |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,590,229 (GRCm39) |
K672E |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,429,229 (GRCm39) |
I616F |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,707,506 (GRCm39) |
M154V |
probably damaging |
Het |
| Wdfy4 |
A |
C |
14: 32,795,492 (GRCm39) |
Y2083* |
probably null |
Het |
| Zc3hav1 |
A |
G |
6: 38,288,212 (GRCm39) |
F875L |
probably benign |
Het |
| Zfp979 |
T |
C |
4: 147,697,836 (GRCm39) |
N291S |
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,742,835 (GRCm39) |
Y99F |
possibly damaging |
Het |
|
| Other mutations in Epb41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Epb41
|
APN |
4 |
131,702,042 (GRCm39) |
missense |
probably benign |
|
|
IGL00897:Epb41
|
APN |
4 |
131,727,508 (GRCm39) |
splice site |
probably null |
|
|
IGL00911:Epb41
|
APN |
4 |
131,717,095 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01390:Epb41
|
APN |
4 |
131,731,048 (GRCm39) |
missense |
probably benign |
|
|
IGL01459:Epb41
|
APN |
4 |
131,691,439 (GRCm39) |
intron |
probably benign |
|
|
IGL01816:Epb41
|
APN |
4 |
131,731,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02192:Epb41
|
APN |
4 |
131,657,028 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02296:Epb41
|
APN |
4 |
131,731,065 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03011:Epb41
|
APN |
4 |
131,731,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03268:Epb41
|
APN |
4 |
131,655,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03388:Epb41
|
APN |
4 |
131,702,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0355:Epb41
|
UTSW |
4 |
131,727,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0532:Epb41
|
UTSW |
4 |
131,706,106 (GRCm39) |
splice site |
probably benign |
|
|
R0550:Epb41
|
UTSW |
4 |
131,702,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0571:Epb41
|
UTSW |
4 |
131,717,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1158:Epb41
|
UTSW |
4 |
131,727,502 (GRCm39) |
splice site |
probably benign |
|
|
R1444:Epb41
|
UTSW |
4 |
131,733,382 (GRCm39) |
missense |
probably benign |
|
|
R2106:Epb41
|
UTSW |
4 |
131,717,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2269:Epb41
|
UTSW |
4 |
131,691,458 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4014:Epb41
|
UTSW |
4 |
131,709,756 (GRCm39) |
splice site |
probably benign |
|
|
R4017:Epb41
|
UTSW |
4 |
131,709,756 (GRCm39) |
splice site |
probably benign |
|
|
R4952:Epb41
|
UTSW |
4 |
131,727,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4976:Epb41
|
UTSW |
4 |
131,664,747 (GRCm39) |
unclassified |
probably benign |
|
|
R5058:Epb41
|
UTSW |
4 |
131,734,746 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5119:Epb41
|
UTSW |
4 |
131,664,747 (GRCm39) |
unclassified |
probably benign |
|
|
R5229:Epb41
|
UTSW |
4 |
131,706,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5571:Epb41
|
UTSW |
4 |
131,664,717 (GRCm39) |
unclassified |
probably benign |
|
|
R6250:Epb41
|
UTSW |
4 |
131,717,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6531:Epb41
|
UTSW |
4 |
131,684,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6890:Epb41
|
UTSW |
4 |
131,663,140 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7265:Epb41
|
UTSW |
4 |
131,695,145 (GRCm39) |
missense |
unknown |
|
|
R7289:Epb41
|
UTSW |
4 |
131,718,520 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7322:Epb41
|
UTSW |
4 |
131,717,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7823:Epb41
|
UTSW |
4 |
131,701,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8296:Epb41
|
UTSW |
4 |
131,664,772 (GRCm39) |
missense |
|
|
|
R8317:Epb41
|
UTSW |
4 |
131,684,961 (GRCm39) |
missense |
|
|
|
R8401:Epb41
|
UTSW |
4 |
131,702,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9065:Epb41
|
UTSW |
4 |
131,682,888 (GRCm39) |
missense |
|
|
|
R9414:Epb41
|
UTSW |
4 |
131,702,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Epb41
|
UTSW |
4 |
131,655,820 (GRCm39) |
missense |
|
|
|
X0066:Epb41
|
UTSW |
4 |
131,702,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Epb41
|
UTSW |
4 |
131,733,394 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATAGATCTTCTCCTTATCTAGCCG -3'
(R):5'- TGAGTCCACAGACCGAAGTC -3'
Sequencing Primer
(F):5'- GGTTTGATACTCAGCACCTACATGG -3'
(R):5'- AAGTCCTCGGCCCACCTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation