Incidental Mutation 'R0355:Epb41'
| ID |
29750 |
| 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 |
038561-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0355 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
131650724-131802632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131727572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 243
(H243R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030739]
[ENSMUST00000054917]
[ENSMUST00000084253]
[ENSMUST00000105970]
[ENSMUST00000105972]
[ENSMUST00000105974]
[ENSMUST00000105975]
[ENSMUST00000141291]
[ENSMUST00000105981]
[ENSMUST00000137846]
|
| AlphaFold |
P48193 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030739
AA Change: H243R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906
AA Change: H243R
| 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 damaging
Transcript: ENSMUST00000054917
AA Change: H243R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906
AA Change: H243R
| 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 damaging
Transcript: ENSMUST00000084253
AA Change: H243R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906
AA Change: H243R
| 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 |
possibly damaging
Transcript: ENSMUST00000105970
AA Change: H91R
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906
AA Change: H91R
| 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 damaging
Transcript: ENSMUST00000105972
AA Change: H243R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906
AA Change: H243R
| 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 |
possibly damaging
Transcript: ENSMUST00000105975
AA Change: H268R
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906
AA Change: H268R
| 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 damaging
Transcript: ENSMUST00000141291
AA Change: H243R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906
AA Change: H243R
| 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 |
probably damaging
Transcript: ENSMUST00000105981
AA Change: H243R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906
AA Change: H243R
| 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 damaging
Transcript: ENSMUST00000137846
AA Change: H85R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906
AA Change: H85R
| 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 |
noncoding transcript
Transcript: ENSMUST00000144754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146021
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131953
|
| Meta Mutation Damage Score |
0.6666 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 90.2%
|
| Validation Efficiency |
100% (76/76) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
G |
7: 120,023,021 (GRCm39) |
I52M |
possibly damaging |
Het |
| Agbl5 |
G |
T |
5: 31,049,335 (GRCm39) |
|
probably null |
Het |
| Akt2 |
T |
C |
7: 27,336,334 (GRCm39) |
|
probably benign |
Het |
| Arl6ip5 |
T |
A |
6: 97,209,378 (GRCm39) |
S138T |
probably damaging |
Het |
| Atp9b |
A |
G |
18: 80,952,800 (GRCm39) |
|
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,553,919 (GRCm39) |
N422Y |
probably damaging |
Het |
| Ccr5 |
C |
T |
9: 123,924,951 (GRCm39) |
P185S |
possibly damaging |
Het |
| Cep63 |
G |
T |
9: 102,500,759 (GRCm39) |
Q38K |
probably benign |
Het |
| Cgn |
T |
C |
3: 94,682,242 (GRCm39) |
S446G |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,952,206 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,968,330 (GRCm39) |
Q3099L |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,708,279 (GRCm39) |
T479I |
possibly damaging |
Het |
| Dclre1a |
A |
G |
19: 56,535,067 (GRCm39) |
|
probably null |
Het |
| Dlg1 |
T |
A |
16: 31,502,992 (GRCm39) |
C66* |
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,427,272 (GRCm39) |
|
probably null |
Het |
| Dnajb9 |
T |
A |
12: 44,253,987 (GRCm39) |
H140L |
probably damaging |
Het |
| Dnase1 |
G |
A |
16: 3,857,413 (GRCm39) |
V237M |
probably damaging |
Het |
| Dscam |
C |
A |
16: 96,456,105 (GRCm39) |
E1274D |
probably benign |
Het |
| Evc |
T |
A |
5: 37,473,656 (GRCm39) |
|
probably benign |
Het |
| Fcgrt |
T |
A |
7: 44,752,493 (GRCm39) |
M1L |
unknown |
Het |
| Flii |
T |
C |
11: 60,610,506 (GRCm39) |
|
probably null |
Het |
| Gen1 |
A |
G |
12: 11,298,355 (GRCm39) |
|
probably benign |
Het |
| Gm10447 |
T |
C |
11: 53,347,257 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
A |
G |
3: 36,101,054 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
A |
T |
13: 50,055,975 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr137 |
G |
C |
19: 6,916,491 (GRCm39) |
D253E |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,343,652 (GRCm39) |
D116V |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,151,554 (GRCm39) |
|
probably benign |
Het |
| Havcr1 |
A |
G |
11: 46,647,051 (GRCm39) |
T162A |
possibly damaging |
Het |
| Hspa1l |
A |
T |
17: 35,196,386 (GRCm39) |
T142S |
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,267,409 (GRCm39) |
Y602* |
probably null |
Het |
| Il18 |
T |
A |
9: 50,490,575 (GRCm39) |
|
probably benign |
Het |
| Ilf3 |
T |
C |
9: 21,309,266 (GRCm39) |
V474A |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,476,664 (GRCm39) |
Y771C |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,125,575 (GRCm39) |
T542A |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,648,868 (GRCm39) |
Y714H |
probably benign |
Het |
| Itgbl1 |
T |
A |
14: 124,077,997 (GRCm39) |
C162* |
probably null |
Het |
| Kcp |
T |
C |
6: 29,496,926 (GRCm39) |
H561R |
possibly damaging |
Het |
| Krt23 |
G |
T |
11: 99,376,613 (GRCm39) |
T181N |
probably benign |
Het |
| Lrrc40 |
A |
T |
3: 157,746,108 (GRCm39) |
D61V |
probably damaging |
Het |
| Lypd4 |
T |
A |
7: 24,564,691 (GRCm39) |
H149L |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,473,058 (GRCm39) |
F953L |
probably damaging |
Het |
| Mctp1 |
C |
T |
13: 76,972,982 (GRCm39) |
P405S |
probably damaging |
Het |
| Mfsd2a |
G |
A |
4: 122,845,632 (GRCm39) |
T173I |
possibly damaging |
Het |
| Mtus1 |
T |
C |
8: 41,535,965 (GRCm39) |
T584A |
probably benign |
Het |
| Nell2 |
A |
G |
15: 95,330,782 (GRCm39) |
V213A |
probably benign |
Het |
| Nipsnap1 |
G |
A |
11: 4,839,957 (GRCm39) |
G226E |
probably damaging |
Het |
| Nudt15 |
T |
C |
14: 73,760,824 (GRCm39) |
Y89C |
probably damaging |
Het |
| Or10g7 |
T |
A |
9: 39,905,459 (GRCm39) |
S118T |
possibly damaging |
Het |
| Or10h28 |
T |
A |
17: 33,488,109 (GRCm39) |
M137K |
probably damaging |
Het |
| Or13p3 |
T |
A |
4: 118,566,808 (GRCm39) |
M68K |
probably benign |
Het |
| Or7a37 |
T |
G |
10: 78,806,267 (GRCm39) |
S261R |
probably damaging |
Het |
| Phf24 |
A |
C |
4: 42,933,891 (GRCm39) |
E91A |
probably damaging |
Het |
| Plbd1 |
T |
A |
6: 136,618,165 (GRCm39) |
N17I |
possibly damaging |
Het |
| Por |
C |
T |
5: 135,761,438 (GRCm39) |
S308L |
probably benign |
Het |
| Prmt8 |
T |
A |
6: 127,688,837 (GRCm39) |
K178* |
probably null |
Het |
| Rev3l |
A |
G |
10: 39,693,282 (GRCm39) |
N454S |
probably damaging |
Het |
| Rps6ka2 |
T |
C |
17: 7,539,009 (GRCm39) |
V309A |
probably benign |
Het |
| Slc15a5 |
A |
G |
6: 137,995,112 (GRCm39) |
|
probably benign |
Het |
| Slc30a6 |
G |
A |
17: 74,730,198 (GRCm39) |
V363I |
probably benign |
Het |
| Snf8 |
G |
A |
11: 95,930,125 (GRCm39) |
M42I |
probably benign |
Het |
| Stom |
T |
C |
2: 35,215,371 (GRCm39) |
I65V |
probably benign |
Het |
| Tacr3 |
C |
T |
3: 134,637,989 (GRCm39) |
T382I |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,682,010 (GRCm39) |
V2540A |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,816 (GRCm39) |
T314A |
possibly damaging |
Het |
| Tyk2 |
T |
C |
9: 21,025,486 (GRCm39) |
|
probably null |
Het |
| Ube4a |
T |
C |
9: 44,856,099 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,589,015 (GRCm39) |
H1060R |
possibly damaging |
Het |
| Virma |
A |
T |
4: 11,528,626 (GRCm39) |
K1288* |
probably null |
Het |
| Vmn2r100 |
A |
C |
17: 19,751,582 (GRCm39) |
I542L |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,187,806 (GRCm39) |
|
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,245,018 (GRCm39) |
I797T |
possibly damaging |
Het |
| Zfp74 |
C |
T |
7: 29,653,466 (GRCm39) |
|
probably benign |
Het |
| Zkscan7 |
T |
A |
9: 122,717,872 (GRCm39) |
L89Q |
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 |
|
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 |
|
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'- AGCCTTGATATGGGACAATCTTGCTG -3'
(R):5'- ACATTGACGCTGTTTCCAAAATGCTG -3'
Sequencing Primer
(F):5'- tctgtctctctctctctctctc -3'
(R):5'- CGCTGTTTCCAAAATGCTGTAATG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation