Incidental Mutation 'R7823:Epb41'
| ID |
601989 |
| 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 |
045877-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7823 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
131650724-131802632 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 131701993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030739]
[ENSMUST00000054917]
[ENSMUST00000084253]
[ENSMUST00000105970]
[ENSMUST00000105972]
[ENSMUST00000105974]
[ENSMUST00000105975]
[ENSMUST00000105981]
[ENSMUST00000137846]
[ENSMUST00000141291]
|
| AlphaFold |
P48193 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030739
|
| SMART Domains |
Protein: ENSMUSP00000030739
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 |
|
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000105972
|
| SMART Domains |
Protein: ENSMUSP00000101592
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 |
|
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 null
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 null
Transcript: ENSMUST00000105975
|
| SMART Domains |
Protein: ENSMUSP00000101595
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
|
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 null
Transcript: ENSMUST00000105981
|
| SMART Domains |
Protein: ENSMUSP00000101601
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 |
|
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 null
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 null
Transcript: ENSMUST00000141291
|
| SMART Domains |
Protein: ENSMUSP00000120236
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 |
|
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
647 |
695 |
1.3e-29 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212761
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (68/69) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,771,484 (GRCm39) |
V869A |
probably benign |
Het |
| Alox15 |
C |
A |
11: 70,235,494 (GRCm39) |
V623L |
possibly damaging |
Het |
| Angpt4 |
T |
G |
2: 151,753,286 (GRCm39) |
L12R |
unknown |
Het |
| Cdh24 |
C |
T |
14: 54,874,875 (GRCm39) |
A42T |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,807,336 (GRCm39) |
S234T |
possibly damaging |
Het |
| Clnk |
T |
A |
5: 38,907,694 (GRCm39) |
Y188F |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,103,698 (GRCm39) |
T306S |
|
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Dgka |
T |
A |
10: 128,572,135 (GRCm39) |
Y50F |
probably benign |
Het |
| Dgkh |
C |
T |
14: 78,841,921 (GRCm39) |
V434I |
probably benign |
Het |
| Fam220a |
A |
G |
5: 143,549,011 (GRCm39) |
D141G |
probably damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,300,610 (GRCm39) |
L807S |
probably damaging |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,410,175 (GRCm39) |
V36M |
possibly damaging |
Het |
| Gjb2 |
T |
C |
14: 57,337,963 (GRCm39) |
I82V |
probably benign |
Het |
| Gm7579 |
T |
A |
7: 141,766,307 (GRCm39) |
C238S |
unknown |
Het |
| Hps1 |
G |
A |
19: 42,744,146 (GRCm39) |
T681M |
possibly damaging |
Het |
| Iqck |
T |
C |
7: 118,472,046 (GRCm39) |
Y64H |
probably damaging |
Het |
| Ldlr |
G |
A |
9: 21,653,602 (GRCm39) |
|
probably null |
Het |
| Macc1 |
A |
C |
12: 119,410,800 (GRCm39) |
K523Q |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,868,559 (GRCm39) |
I498N |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,442,319 (GRCm39) |
E373G |
probably damaging |
Het |
| Mthfr |
T |
C |
4: 148,135,944 (GRCm39) |
I314T |
probably benign |
Het |
| Mtmr4 |
T |
G |
11: 87,503,015 (GRCm39) |
I1023S |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,719,233 (GRCm39) |
F507I |
probably damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,523,468 (GRCm39) |
M671L |
probably benign |
Het |
| Nt5c1a |
T |
C |
4: 123,102,365 (GRCm39) |
V97A |
probably damaging |
Het |
| Nxpe5 |
A |
G |
5: 138,237,844 (GRCm39) |
R123G |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,998,766 (GRCm39) |
S1369G |
probably damaging |
Het |
| Oga |
A |
G |
19: 45,765,354 (GRCm39) |
V151A |
possibly damaging |
Het |
| Or4a75 |
A |
G |
2: 89,447,613 (GRCm39) |
*308Q |
probably null |
Het |
| Or52m2 |
A |
G |
7: 102,264,164 (GRCm39) |
S11P |
probably benign |
Het |
| Or5b99 |
A |
T |
19: 12,976,781 (GRCm39) |
I144F |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,854,136 (GRCm39) |
M302K |
probably benign |
Het |
| Or6k2 |
A |
G |
1: 173,987,254 (GRCm39) |
K305R |
probably benign |
Het |
| Or8b57 |
A |
T |
9: 40,003,644 (GRCm39) |
V202E |
probably damaging |
Het |
| Pak6 |
G |
A |
2: 118,525,793 (GRCm39) |
A618T |
probably benign |
Het |
| Pax7 |
T |
A |
4: 139,468,150 (GRCm39) |
E489V |
probably benign |
Het |
| Phactr4 |
G |
A |
4: 132,088,930 (GRCm39) |
R651* |
probably null |
Het |
| Pik3c2b |
C |
T |
1: 133,030,043 (GRCm39) |
R1435C |
probably damaging |
Het |
| Pla2g4c |
A |
T |
7: 13,063,944 (GRCm39) |
I68F |
probably damaging |
Het |
| Plppr1 |
A |
G |
4: 49,325,703 (GRCm39) |
M300V |
probably benign |
Het |
| Ptgfrn |
C |
T |
3: 100,950,725 (GRCm39) |
V863I |
probably damaging |
Het |
| Rabep2 |
T |
C |
7: 126,037,893 (GRCm39) |
S222P |
probably damaging |
Het |
| Ramacl |
A |
G |
13: 67,055,351 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
A |
T |
19: 53,831,785 (GRCm39) |
D673V |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
C |
A |
11: 106,233,334 (GRCm39) |
A413S |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,135 (GRCm39) |
M1850K |
probably damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,086,188 (GRCm39) |
M1K |
probably null |
Het |
| Slc22a28 |
G |
A |
19: 8,041,890 (GRCm39) |
T439I |
probably benign |
Het |
| Slc25a36 |
A |
G |
9: 96,966,444 (GRCm39) |
|
probably null |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Spata3 |
T |
C |
1: 85,949,781 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
C |
T |
11: 116,156,265 (GRCm39) |
R159Q |
probably damaging |
Het |
| Ssbp2 |
C |
A |
13: 91,790,448 (GRCm39) |
L104I |
possibly damaging |
Het |
| St8sia3 |
T |
A |
18: 64,400,027 (GRCm39) |
F7L |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,532,587 (GRCm39) |
V2948A |
probably damaging |
Het |
| Syne4 |
A |
G |
7: 30,018,280 (GRCm39) |
T341A |
probably benign |
Het |
| Tcf7l2 |
T |
A |
19: 55,731,521 (GRCm39) |
D91E |
possibly damaging |
Het |
| Tekt5 |
T |
A |
16: 10,203,943 (GRCm39) |
I236F |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,144,133 (GRCm39) |
Y316H |
probably damaging |
Het |
| Tmem184b |
C |
T |
15: 79,249,491 (GRCm39) |
A326T |
probably benign |
Het |
| Tnks2 |
G |
A |
19: 36,829,954 (GRCm39) |
|
probably null |
Het |
| Trpc4 |
C |
A |
3: 54,209,640 (GRCm39) |
Y668* |
probably null |
Het |
| Ttc9c |
A |
T |
19: 8,793,286 (GRCm39) |
F118Y |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,946,780 (GRCm39) |
C95Y |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,970,028 (GRCm39) |
L787R |
probably damaging |
Het |
| Vwa3a |
T |
C |
7: 120,372,185 (GRCm39) |
S254P |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,340,627 (GRCm39) |
Y1250C |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,342,118 (GRCm39) |
D1453V |
probably damaging |
Het |
| Zbtb38 |
A |
T |
9: 96,568,029 (GRCm39) |
C1018* |
probably null |
Het |
| Zfp622 |
C |
T |
15: 25,984,709 (GRCm39) |
T25M |
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 |
|
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 |
|
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'- ACTTGGCCACTGAGGTTCTC -3'
(R):5'- TTGCTTGACTAGAAATTGCCAC -3'
Sequencing Primer
(F):5'- CACTGAGGTTCTCCGTAAACTGGAG -3'
(R):5'- TGCTTGACTAGAAATTGCCACAAGAG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation