Incidental Mutation 'R7322:Epb41'
ID |
568206 |
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 |
045417-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7322 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
131650724-131802632 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 131717030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 375
(Y375N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030739]
[ENSMUST00000054917]
[ENSMUST00000084253]
[ENSMUST00000105970]
[ENSMUST00000105972]
[ENSMUST00000105974]
[ENSMUST00000105975]
[ENSMUST00000105981]
[ENSMUST00000137846]
[ENSMUST00000141291]
|
AlphaFold |
P48193 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030739
AA Change: Y375N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030739 Gene: ENSMUSG00000028906 AA Change: Y375N
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: Y375N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000060375 Gene: ENSMUSG00000028906 AA Change: Y375N
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: Y375N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000081274 Gene: ENSMUSG00000028906 AA Change: Y375N
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: ENSMUST00000105970
AA Change: Y223N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101590 Gene: ENSMUSG00000028906 AA Change: Y223N
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: Y375N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101592 Gene: ENSMUSG00000028906 AA Change: Y375N
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: ENSMUST00000105974
AA Change: Y340N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101594 Gene: ENSMUSG00000028906 AA Change: Y340N
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 damaging
Transcript: ENSMUST00000105975
AA Change: Y400N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101595 Gene: ENSMUSG00000028906 AA Change: Y400N
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: ENSMUST00000105981
AA Change: Y375N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101601 Gene: ENSMUSG00000028906 AA Change: Y375N
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: Y217N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123623 Gene: ENSMUSG00000028906 AA Change: Y217N
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 damaging
Transcript: ENSMUST00000141291
AA Change: Y375N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120236 Gene: ENSMUSG00000028906 AA Change: Y375N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
T |
4: 53,067,151 (GRCm39) |
V1352D |
probably damaging |
Het |
Adam33 |
C |
T |
2: 130,895,614 (GRCm39) |
C567Y |
probably damaging |
Het |
Alppl2 |
C |
A |
1: 87,015,184 (GRCm39) |
G422C |
probably benign |
Het |
Ang |
T |
A |
14: 51,338,868 (GRCm39) |
I3K |
unknown |
Het |
Ankrd10 |
A |
T |
8: 11,665,841 (GRCm39) |
V253E |
probably damaging |
Het |
Arhgef17 |
T |
C |
7: 100,527,004 (GRCm39) |
I806V |
probably benign |
Het |
Atp10b |
T |
C |
11: 43,103,374 (GRCm39) |
L586P |
probably damaging |
Het |
Bdkrb1 |
T |
C |
12: 105,570,563 (GRCm39) |
V43A |
possibly damaging |
Het |
Brinp3 |
C |
T |
1: 146,558,426 (GRCm39) |
R117* |
probably null |
Het |
Brwd1 |
A |
T |
16: 95,867,319 (GRCm39) |
M172K |
probably damaging |
Het |
Bsn |
G |
A |
9: 108,003,620 (GRCm39) |
R262* |
probably null |
Het |
Bst2 |
A |
C |
8: 71,989,851 (GRCm39) |
L74R |
probably damaging |
Het |
C1qa |
T |
C |
4: 136,623,465 (GRCm39) |
*246W |
probably null |
Het |
Cadm2 |
G |
A |
16: 66,679,734 (GRCm39) |
T42M |
probably damaging |
Het |
Ccdc150 |
A |
G |
1: 54,299,125 (GRCm39) |
T34A |
probably benign |
Het |
Ccdc178 |
G |
A |
18: 22,238,606 (GRCm39) |
T337M |
probably benign |
Het |
Ccl8 |
T |
C |
11: 82,007,408 (GRCm39) |
V81A |
probably damaging |
Het |
Dgcr6 |
A |
G |
16: 17,888,771 (GRCm39) |
T69A |
unknown |
Het |
Dnah10 |
A |
G |
5: 124,898,333 (GRCm39) |
D3762G |
probably benign |
Het |
Eif3d |
T |
C |
15: 77,845,876 (GRCm39) |
T382A |
probably benign |
Het |
Epb41l1 |
A |
T |
2: 156,345,771 (GRCm39) |
H258L |
probably damaging |
Het |
Fbn1 |
A |
C |
2: 125,321,115 (GRCm39) |
I81S |
possibly damaging |
Het |
Fzd5 |
A |
G |
1: 64,774,487 (GRCm39) |
S425P |
probably damaging |
Het |
Gfra2 |
T |
A |
14: 71,205,831 (GRCm39) |
V398D |
probably benign |
Het |
Gm3755 |
A |
G |
14: 18,620,904 (GRCm39) |
L130P |
|
Het |
Grin3b |
A |
G |
10: 79,811,529 (GRCm39) |
Y705C |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,349,093 (GRCm39) |
D4944G |
probably damaging |
Het |
Hoxd11 |
T |
C |
2: 74,514,355 (GRCm39) |
L295P |
probably damaging |
Het |
Ighv1-81 |
C |
A |
12: 115,884,287 (GRCm39) |
G16C |
possibly damaging |
Het |
Kcna5 |
T |
C |
6: 126,510,754 (GRCm39) |
D458G |
possibly damaging |
Het |
Klb |
A |
T |
5: 65,540,707 (GRCm39) |
E933D |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,381,433 (GRCm39) |
M3855K |
probably benign |
Het |
Map3k4 |
A |
T |
17: 12,489,833 (GRCm39) |
L533I |
probably damaging |
Het |
Mrps6 |
C |
A |
16: 91,855,335 (GRCm39) |
Y4* |
probably null |
Het |
Nabp1 |
A |
T |
1: 51,512,229 (GRCm39) |
V105E |
probably damaging |
Het |
Naip6 |
T |
A |
13: 100,435,896 (GRCm39) |
N876Y |
possibly damaging |
Het |
Nlrp2 |
T |
C |
7: 5,311,644 (GRCm39) |
S944G |
possibly damaging |
Het |
Nr4a3 |
A |
T |
4: 48,083,238 (GRCm39) |
E590D |
probably benign |
Het |
Or10h5 |
A |
G |
17: 33,434,673 (GRCm39) |
I215T |
probably damaging |
Het |
Or1b1 |
T |
C |
2: 36,995,603 (GRCm39) |
R20G |
probably null |
Het |
Or52ab2 |
T |
A |
7: 102,970,494 (GRCm39) |
V292E |
|
Het |
Or5j1 |
A |
T |
2: 86,878,823 (GRCm39) |
Y252* |
probably null |
Het |
Or8k22 |
C |
T |
2: 86,162,908 (GRCm39) |
S264N |
probably benign |
Het |
Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,437,248 (GRCm39) |
D451G |
probably damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,146,129 (GRCm39) |
S142P |
probably benign |
Het |
Postn |
T |
C |
3: 54,277,701 (GRCm39) |
L232P |
probably damaging |
Het |
Prss8 |
T |
C |
7: 127,528,735 (GRCm39) |
T33A |
probably benign |
Het |
Ptgr3 |
A |
G |
18: 84,113,260 (GRCm39) |
Y312C |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 79,053,130 (GRCm39) |
M1K |
probably null |
Het |
Rasa3 |
T |
C |
8: 13,645,857 (GRCm39) |
N161S |
possibly damaging |
Het |
Riox1 |
G |
A |
12: 83,997,442 (GRCm39) |
|
probably benign |
Het |
Rmdn2 |
A |
T |
17: 79,929,040 (GRCm39) |
K97N |
probably damaging |
Het |
Sgo1 |
A |
G |
17: 53,984,085 (GRCm39) |
L431P |
probably damaging |
Het |
Slc9a8 |
T |
A |
2: 167,293,222 (GRCm39) |
V217E |
probably damaging |
Het |
Slco2b1 |
C |
T |
7: 99,341,055 (GRCm39) |
G21D |
not run |
Het |
Spata31d1d |
C |
A |
13: 59,874,790 (GRCm39) |
R915L |
probably benign |
Het |
Stk17b |
A |
T |
1: 53,805,104 (GRCm39) |
N152K |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,030,798 (GRCm39) |
I3634N |
probably damaging |
Het |
Tnfrsf9 |
A |
G |
4: 151,018,794 (GRCm39) |
D155G |
probably damaging |
Het |
Tnrc6a |
T |
A |
7: 122,770,731 (GRCm39) |
D840E |
probably benign |
Het |
Tyk2 |
G |
A |
9: 21,021,500 (GRCm39) |
S902L |
probably benign |
Het |
Unc119 |
T |
C |
11: 78,239,449 (GRCm39) |
S235P |
probably damaging |
Het |
Vav1 |
A |
C |
17: 57,609,266 (GRCm39) |
D394A |
probably benign |
Het |
Vezf1 |
T |
A |
11: 87,972,410 (GRCm39) |
I439K |
possibly damaging |
Het |
Zfp335 |
A |
T |
2: 164,752,741 (GRCm39) |
M1K |
probably null |
Het |
Zfp715 |
T |
C |
7: 42,960,562 (GRCm39) |
T10A |
possibly damaging |
Het |
Zmynd11 |
C |
T |
13: 9,740,445 (GRCm39) |
E382K |
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 |
|
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'- TGCAATGACCATTACTCTGATGAC -3'
(R):5'- ACATTGTTGCTGGACGTCTG -3'
Sequencing Primer
(F):5'- CTGGAAGCAAAAACAAAAACAAAC -3'
(R):5'- TTGCTGGACGTCTGCCCTG -3'
|
Posted On |
2019-06-26 |