Incidental Mutation 'R0550:Epb41'
ID |
45076 |
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 |
038742-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0550 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
131650724-131802632 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 131702924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 464
(I464T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120236
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030739]
[ENSMUST00000054917]
[ENSMUST00000084253]
[ENSMUST00000105970]
[ENSMUST00000105972]
[ENSMUST00000105974]
[ENSMUST00000105975]
[ENSMUST00000137846]
[ENSMUST00000105981]
[ENSMUST00000141291]
|
AlphaFold |
P48193 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030739
AA Change: I464T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030739 Gene: ENSMUSG00000028906 AA Change: I464T
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: I464T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060375 Gene: ENSMUSG00000028906 AA Change: I464T
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: I464T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081274 Gene: ENSMUSG00000028906 AA Change: I464T
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: I312T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101590 Gene: ENSMUSG00000028906 AA Change: I312T
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: I464T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101592 Gene: ENSMUSG00000028906 AA Change: I464T
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: I429T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101594 Gene: ENSMUSG00000028906 AA Change: I429T
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: I489T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101595 Gene: ENSMUSG00000028906 AA Change: I489T
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: ENSMUST00000137846
AA Change: I306T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123623 Gene: ENSMUSG00000028906 AA Change: I306T
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: ENSMUST00000105981
AA Change: I464T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101601 Gene: ENSMUSG00000028906 AA Change: I464T
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: ENSMUST00000141291
AA Change: I464T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120236 Gene: ENSMUSG00000028906 AA Change: I464T
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: ENSMUST00000212761
AA Change: I186T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146021
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144754
|
Meta Mutation Damage Score |
0.9249 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
99% (76/77) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
T |
11: 110,184,666 (GRCm39) |
Y947N |
probably damaging |
Het |
Acss3 |
C |
A |
10: 106,889,332 (GRCm39) |
G163C |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,392,884 (GRCm39) |
T1367A |
probably benign |
Het |
Adcy2 |
A |
T |
13: 69,130,480 (GRCm39) |
S136T |
probably benign |
Het |
Ahdc1 |
G |
A |
4: 132,790,348 (GRCm39) |
V530I |
probably benign |
Het |
Aldh16a1 |
C |
T |
7: 44,795,653 (GRCm39) |
|
probably null |
Het |
Ankrd36 |
T |
C |
11: 5,557,429 (GRCm39) |
|
probably null |
Het |
Aqr |
A |
C |
2: 113,963,457 (GRCm39) |
N664K |
probably damaging |
Het |
Atp6v1c1 |
T |
C |
15: 38,683,173 (GRCm39) |
|
probably benign |
Het |
Atp8b2 |
C |
T |
3: 89,866,368 (GRCm39) |
|
probably benign |
Het |
Bbx |
T |
C |
16: 50,094,896 (GRCm39) |
|
probably benign |
Het |
Bmper |
T |
A |
9: 23,285,181 (GRCm39) |
D243E |
probably benign |
Het |
Casz1 |
GCCACCACCACCACCACCACCAC |
GCCACCACCACCACCACCAC |
4: 149,036,741 (GRCm39) |
|
probably benign |
Het |
Catsperd |
T |
C |
17: 56,970,427 (GRCm39) |
|
probably null |
Het |
Ccdc92b |
T |
A |
11: 74,520,771 (GRCm39) |
|
probably null |
Het |
Cd2bp2 |
G |
T |
7: 126,792,996 (GRCm39) |
T342K |
probably damaging |
Het |
Clrn3 |
T |
A |
7: 135,130,154 (GRCm39) |
I27F |
possibly damaging |
Het |
Cnih3 |
TTGACGAG |
T |
1: 181,234,042 (GRCm39) |
|
probably null |
Het |
Cntnap3 |
T |
C |
13: 64,909,814 (GRCm39) |
T764A |
possibly damaging |
Het |
Cttnbp2 |
T |
G |
6: 18,435,308 (GRCm39) |
K183N |
possibly damaging |
Het |
Cwc27 |
G |
A |
13: 104,941,457 (GRCm39) |
P155L |
probably damaging |
Het |
Dcaf10 |
T |
C |
4: 45,372,753 (GRCm39) |
S389P |
probably benign |
Het |
Ddx18 |
T |
C |
1: 121,483,104 (GRCm39) |
K561E |
probably benign |
Het |
Dkk3 |
A |
G |
7: 111,757,452 (GRCm39) |
F51L |
probably damaging |
Het |
Dnai1 |
C |
T |
4: 41,596,274 (GRCm39) |
R20* |
probably null |
Het |
Dr1 |
G |
A |
5: 108,417,471 (GRCm39) |
G6S |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,120,954 (GRCm39) |
|
probably null |
Het |
Eif3l |
A |
G |
15: 78,961,067 (GRCm39) |
Y16C |
probably damaging |
Het |
Erc2 |
A |
G |
14: 27,993,608 (GRCm39) |
K546E |
possibly damaging |
Het |
F830045P16Rik |
T |
C |
2: 129,305,429 (GRCm39) |
D315G |
probably damaging |
Het |
Fads6 |
A |
G |
11: 115,187,503 (GRCm39) |
I64T |
probably benign |
Het |
Fshr |
T |
C |
17: 89,352,553 (GRCm39) |
N107S |
probably benign |
Het |
Gbp11 |
A |
T |
5: 105,491,616 (GRCm39) |
N60K |
probably benign |
Het |
Gm2a |
C |
T |
11: 54,994,491 (GRCm39) |
Q54* |
probably null |
Het |
Hydin |
A |
G |
8: 111,314,407 (GRCm39) |
D4297G |
probably benign |
Het |
Il6st |
G |
A |
13: 112,611,648 (GRCm39) |
|
probably null |
Het |
Inpp4b |
T |
A |
8: 82,723,966 (GRCm39) |
H499Q |
probably benign |
Het |
Kif5c |
A |
G |
2: 49,648,924 (GRCm39) |
K956R |
possibly damaging |
Het |
Krt74 |
G |
A |
15: 101,669,114 (GRCm39) |
|
noncoding transcript |
Het |
Map3k9 |
A |
T |
12: 81,772,555 (GRCm39) |
L649Q |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,730,479 (GRCm39) |
D2871G |
probably benign |
Het |
Mylk4 |
T |
C |
13: 32,900,649 (GRCm39) |
T294A |
probably benign |
Het |
Nbeal2 |
C |
T |
9: 110,471,226 (GRCm39) |
V252I |
probably benign |
Het |
Nectin3 |
A |
G |
16: 46,279,183 (GRCm39) |
I265T |
possibly damaging |
Het |
Opn1sw |
A |
T |
6: 29,380,203 (GRCm39) |
L71Q |
probably damaging |
Het |
Or4c12 |
A |
G |
2: 89,773,733 (GRCm39) |
I242T |
probably damaging |
Het |
Or52m1 |
G |
A |
7: 102,290,157 (GRCm39) |
E235K |
possibly damaging |
Het |
Or5aq6 |
G |
T |
2: 86,923,473 (GRCm39) |
H89Q |
probably benign |
Het |
Or5b97 |
A |
T |
19: 12,879,164 (GRCm39) |
|
probably null |
Het |
Or5k17 |
A |
G |
16: 58,746,748 (GRCm39) |
F62S |
probably damaging |
Het |
Or8b46 |
T |
A |
9: 38,450,676 (GRCm39) |
C162S |
probably damaging |
Het |
Or8k27 |
A |
T |
2: 86,276,220 (GRCm39) |
Y35* |
probably null |
Het |
Pced1a |
G |
A |
2: 130,261,553 (GRCm39) |
P367S |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,417,447 (GRCm39) |
M2568K |
probably null |
Het |
Pla2r1 |
A |
G |
2: 60,255,694 (GRCm39) |
|
probably null |
Het |
Plpp1 |
T |
C |
13: 112,971,519 (GRCm39) |
I62T |
probably benign |
Het |
Polr3g |
G |
A |
13: 81,842,892 (GRCm39) |
T41I |
probably damaging |
Het |
Ptch2 |
T |
C |
4: 116,953,630 (GRCm39) |
|
probably benign |
Het |
Sema4g |
A |
T |
19: 44,986,104 (GRCm39) |
H315L |
probably benign |
Het |
Setd1b |
G |
T |
5: 123,295,723 (GRCm39) |
S1097I |
unknown |
Het |
Sfxn4 |
A |
G |
19: 60,839,383 (GRCm39) |
|
probably benign |
Het |
Sh3tc1 |
T |
C |
5: 35,857,128 (GRCm39) |
E1237G |
probably damaging |
Het |
Slc25a38 |
A |
T |
9: 119,952,709 (GRCm39) |
N287I |
probably benign |
Het |
Slc25a48 |
A |
G |
13: 56,596,811 (GRCm39) |
T31A |
probably benign |
Het |
Slc6a12 |
G |
A |
6: 121,333,877 (GRCm39) |
V238I |
probably damaging |
Het |
Slc8b1 |
A |
G |
5: 120,669,220 (GRCm39) |
|
probably benign |
Het |
Slco4c1 |
A |
C |
1: 96,795,584 (GRCm39) |
V158G |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,063,803 (GRCm39) |
T2208A |
probably benign |
Het |
Srebf1 |
G |
A |
11: 60,092,502 (GRCm39) |
T843I |
probably benign |
Het |
Srl |
A |
G |
16: 4,305,429 (GRCm39) |
W101R |
probably damaging |
Het |
St6galnac4 |
T |
A |
2: 32,484,031 (GRCm39) |
C76* |
probably null |
Het |
Tdrd3 |
C |
A |
14: 87,723,656 (GRCm39) |
T290K |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Trpm3 |
A |
G |
19: 22,965,176 (GRCm39) |
E1547G |
probably damaging |
Het |
Ubn1 |
A |
G |
16: 4,880,484 (GRCm39) |
|
probably null |
Het |
Usp10 |
T |
A |
8: 120,674,540 (GRCm39) |
I456K |
probably damaging |
Het |
Usp6nl |
A |
G |
2: 6,405,134 (GRCm39) |
|
probably benign |
Het |
Vit |
T |
A |
17: 78,932,222 (GRCm39) |
V443E |
possibly damaging |
Het |
Whamm |
G |
A |
7: 81,235,972 (GRCm39) |
V392I |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,465,554 (GRCm39) |
K1904R |
probably damaging |
Het |
Zfp352 |
A |
T |
4: 90,112,927 (GRCm39) |
T356S |
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 |
|
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'- TACAGTGCATGGAAAGGCACCG -3'
(R):5'- TGGACAAAACCTCCATTGCTGAGC -3'
Sequencing Primer
(F):5'- TGCTTTCCAGCCAAAAGAGG -3'
(R):5'- agcagatggtggtgcgg -3'
|
Posted On |
2013-06-11 |