Incidental Mutation 'R2269:Epb41'
| ID |
242296 |
| 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 |
040269-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2269 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
131650724-131802632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 131691458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 623
(N623I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030739]
[ENSMUST00000054917]
[ENSMUST00000084253]
[ENSMUST00000105970]
[ENSMUST00000105972]
[ENSMUST00000105974]
[ENSMUST00000105975]
[ENSMUST00000105981]
[ENSMUST00000141291]
[ENSMUST00000137846]
|
| AlphaFold |
P48193 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030739
AA Change: N623I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906
AA Change: N623I
| 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
|
| SMART Domains |
Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906
| 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
|
| SMART Domains |
Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906
| 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: N623I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906
AA Change: N623I
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101594
Gene: ENSMUSG00000028906
| 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: N648I
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906
AA Change: N648I
| 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 |
probably benign
Transcript: ENSMUST00000105981
AA Change: N623I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906
AA Change: N623I
| 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: ENSMUST00000141291
AA Change: N623I
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906
AA Change: N623I
| 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 |
noncoding transcript
Transcript: ENSMUST00000146021
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144754
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135579
|
| SMART Domains |
Protein: ENSMUSP00000121764
Gene: ENSMUSG00000028906
| 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: ENSMUST00000137846
|
| SMART Domains |
Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906
| 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: ENSMUST00000146443
|
| SMART Domains |
Protein: ENSMUSP00000122234
Gene: ENSMUSG00000028906
| 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 |
|
| Meta Mutation Damage Score |
0.0732 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (79/81) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,030,383 (GRCm39) |
D165G |
probably benign |
Het |
| Abca8a |
A |
C |
11: 109,917,718 (GRCm39) |
F1574V |
probably damaging |
Het |
| Adh6a |
A |
T |
3: 138,034,857 (GRCm39) |
I329L |
probably benign |
Het |
| Agap2 |
T |
A |
10: 126,918,297 (GRCm39) |
|
probably benign |
Het |
| Ager |
A |
T |
17: 34,818,124 (GRCm39) |
I185F |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,263,675 (GRCm39) |
G173R |
probably damaging |
Het |
| Arhgef16 |
T |
A |
4: 154,369,490 (GRCm39) |
H329L |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,329,669 (GRCm39) |
Y175H |
probably damaging |
Het |
| Banp |
A |
G |
8: 122,702,662 (GRCm39) |
T70A |
probably benign |
Het |
| Bcl11b |
T |
C |
12: 107,881,910 (GRCm39) |
T802A |
possibly damaging |
Het |
| Ces2a |
A |
T |
8: 105,466,822 (GRCm39) |
I65F |
probably benign |
Het |
| Cflar |
G |
A |
1: 58,780,206 (GRCm39) |
|
probably null |
Het |
| Clec16a |
G |
A |
16: 10,462,650 (GRCm39) |
R656H |
probably damaging |
Het |
| Cntn1 |
A |
G |
15: 92,192,863 (GRCm39) |
|
probably benign |
Het |
| Coasy |
A |
G |
11: 100,976,708 (GRCm39) |
T493A |
probably benign |
Het |
| Col16a1 |
C |
A |
4: 129,946,711 (GRCm39) |
H111Q |
probably benign |
Het |
| Commd8 |
A |
G |
5: 72,322,765 (GRCm39) |
W51R |
probably damaging |
Het |
| Cyp3a41b |
A |
T |
5: 145,514,976 (GRCm39) |
V83D |
probably benign |
Het |
| D2hgdh |
C |
T |
1: 93,763,157 (GRCm39) |
A314V |
probably damaging |
Het |
| Dcun1d4 |
T |
A |
5: 73,638,618 (GRCm39) |
|
probably benign |
Het |
| Decr2 |
C |
A |
17: 26,302,858 (GRCm39) |
V173L |
probably benign |
Het |
| Defb11 |
A |
G |
8: 22,395,444 (GRCm39) |
*78Q |
probably null |
Het |
| Dock3 |
C |
A |
9: 106,818,525 (GRCm39) |
V1190F |
probably damaging |
Het |
| Dusp1 |
A |
T |
17: 26,726,093 (GRCm39) |
I200N |
probably damaging |
Het |
| Efna1 |
G |
A |
3: 89,183,646 (GRCm39) |
A60V |
possibly damaging |
Het |
| Egfl8 |
C |
T |
17: 34,832,832 (GRCm39) |
V253M |
probably damaging |
Het |
| Fbxw22 |
C |
T |
9: 109,213,062 (GRCm39) |
R295K |
probably benign |
Het |
| Foxn4 |
T |
C |
5: 114,393,662 (GRCm39) |
T486A |
probably damaging |
Het |
| Gbe1 |
C |
T |
16: 70,233,840 (GRCm39) |
A239V |
probably damaging |
Het |
| Gpatch3 |
C |
T |
4: 133,311,118 (GRCm39) |
A518V |
possibly damaging |
Het |
| Gpc6 |
A |
T |
14: 118,125,932 (GRCm39) |
|
probably null |
Het |
| Hdhd2 |
C |
T |
18: 77,052,866 (GRCm39) |
T172M |
probably benign |
Het |
| Heatr5a |
T |
C |
12: 51,940,528 (GRCm39) |
D1444G |
possibly damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,450,299 (GRCm39) |
Y138H |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,905,873 (GRCm39) |
I352V |
possibly damaging |
Het |
| Klhl31 |
A |
G |
9: 77,557,440 (GRCm39) |
D52G |
possibly damaging |
Het |
| Klk1b21 |
T |
C |
7: 43,753,863 (GRCm39) |
I49T |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 26,868,932 (GRCm39) |
I2838F |
probably damaging |
Het |
| Lrrc43 |
A |
T |
5: 123,641,354 (GRCm39) |
T513S |
probably damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Mamdc2 |
A |
T |
19: 23,281,267 (GRCm39) |
|
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,301,628 (GRCm39) |
S266P |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mroh5 |
T |
C |
15: 73,664,997 (GRCm39) |
N258D |
probably benign |
Het |
| Mrpl28 |
T |
C |
17: 26,345,285 (GRCm39) |
V235A |
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,432,556 (GRCm39) |
|
probably null |
Het |
| Mtss2 |
A |
G |
8: 111,455,362 (GRCm39) |
K92E |
possibly damaging |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,399,974 (GRCm39) |
L532* |
probably null |
Het |
| Or10ak16 |
A |
T |
4: 118,751,071 (GRCm39) |
R264W |
probably damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,309 (GRCm39) |
S239P |
probably damaging |
Het |
| Or51f1d |
G |
A |
7: 102,701,344 (GRCm39) |
V280I |
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,684,841 (GRCm39) |
M766T |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,604,759 (GRCm39) |
|
probably null |
Het |
| Plch2 |
T |
C |
4: 155,077,461 (GRCm39) |
E423G |
probably benign |
Het |
| Prrc1 |
G |
T |
18: 57,514,718 (GRCm39) |
D312Y |
probably damaging |
Het |
| Pxdn |
T |
A |
12: 30,055,774 (GRCm39) |
V1220E |
probably damaging |
Het |
| Robo1 |
T |
A |
16: 72,775,660 (GRCm39) |
F728L |
probably benign |
Het |
| Rtel1 |
G |
T |
2: 180,977,796 (GRCm39) |
Q292H |
probably benign |
Het |
| Sh3bp4 |
G |
A |
1: 89,073,314 (GRCm39) |
V721I |
possibly damaging |
Het |
| Slc2a10 |
T |
A |
2: 165,356,701 (GRCm39) |
C120* |
probably null |
Het |
| Srd5a2 |
T |
C |
17: 74,331,485 (GRCm39) |
R171G |
probably damaging |
Het |
| Srsf4 |
T |
C |
4: 131,624,993 (GRCm39) |
V130A |
probably damaging |
Het |
| Styk1 |
T |
C |
6: 131,289,539 (GRCm39) |
E25G |
probably benign |
Het |
| Taar8b |
T |
C |
10: 23,967,270 (GRCm39) |
N308S |
probably damaging |
Het |
| Tbc1d14 |
A |
G |
5: 36,700,561 (GRCm39) |
L269P |
possibly damaging |
Het |
| Tbx1 |
T |
C |
16: 18,400,744 (GRCm39) |
|
probably null |
Het |
| Tmem233 |
G |
C |
5: 116,189,517 (GRCm39) |
|
probably benign |
Het |
| Tmem252 |
T |
C |
19: 24,651,455 (GRCm39) |
I8T |
probably benign |
Het |
| Vcp |
G |
A |
4: 42,980,833 (GRCm39) |
A759V |
possibly damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,817 (GRCm39) |
I790T |
possibly damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,460,897 (GRCm39) |
V741A |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,828,229 (GRCm39) |
V1461A |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,061,824 (GRCm39) |
V575E |
unknown |
Het |
| Zbp1 |
T |
A |
2: 173,060,616 (GRCm39) |
|
probably benign |
Het |
| Zfp280d |
C |
A |
9: 72,209,052 (GRCm39) |
|
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,142,277 (GRCm39) |
Y58C |
probably 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 |
|
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 |
|
R8880:Epb41
|
UTSW |
4 |
131,695,104 (GRCm39) |
missense |
|
|
|
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'- GCAAGCTTCTGTTTTGCCAC -3'
(R):5'- TTACCTCGTCAGCCTTGAAAC -3'
Sequencing Primer
(F):5'- GCAAGCTTCTGTTTTGCCACAATTC -3'
(R):5'- GCCTTGAAACTGTCACGATG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation