Incidental Mutation 'R4952:Epb41'
| ID |
382044 |
| 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 |
042549-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4952 (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 131727581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 265
(V265A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101595
(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: V240A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906
AA Change: V240A
| 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: V240A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906
AA Change: V240A
| 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: V240A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906
AA Change: V240A
| 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: V88A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906
AA Change: V88A
| 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: V240A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906
AA Change: V240A
| 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 damaging
Transcript: ENSMUST00000105975
AA Change: V265A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906
AA Change: V265A
| 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 |
noncoding transcript
Transcript: ENSMUST00000136761
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137846
AA Change: V82A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906
AA Change: V82A
| 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: ENSMUST00000146021
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105981
AA Change: V240A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906
AA Change: V240A
| 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: V240A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906
AA Change: V240A
| 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: ENSMUST00000144754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131953
|
| Meta Mutation Damage Score |
0.8992 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
99% (93/94) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
G |
5: 109,887,063 (GRCm39) |
|
probably null |
Het |
| 4933421I07Rik |
T |
C |
7: 42,097,083 (GRCm39) |
Y76C |
possibly damaging |
Het |
| Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,296,585 (GRCm39) |
M1444V |
probably benign |
Het |
| Amfr |
A |
G |
8: 94,699,787 (GRCm39) |
|
probably benign |
Het |
| Ankef1 |
A |
G |
2: 136,392,449 (GRCm39) |
E546G |
probably damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,482,982 (GRCm39) |
M977V |
probably benign |
Het |
| Ap3m1 |
A |
T |
14: 21,090,134 (GRCm39) |
S5T |
probably benign |
Het |
| Aqr |
C |
A |
2: 113,940,418 (GRCm39) |
D1243Y |
probably damaging |
Het |
| Arhgef2 |
T |
C |
3: 88,549,769 (GRCm39) |
L591P |
probably damaging |
Het |
| Arid4a |
C |
A |
12: 71,070,299 (GRCm39) |
T70K |
possibly damaging |
Het |
| Asphd1 |
C |
T |
7: 126,547,857 (GRCm39) |
A149T |
probably benign |
Het |
| Avpr1a |
T |
A |
10: 122,285,659 (GRCm39) |
M317K |
probably damaging |
Het |
| Birc2 |
T |
C |
9: 7,836,741 (GRCm39) |
I109V |
probably damaging |
Het |
| Catsperd |
A |
G |
17: 56,939,303 (GRCm39) |
Y44C |
probably damaging |
Het |
| Crygb |
T |
G |
1: 65,121,268 (GRCm39) |
S20R |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,334 (GRCm39) |
N237S |
probably benign |
Het |
| Dkk3 |
C |
T |
7: 111,717,558 (GRCm39) |
A304T |
probably benign |
Het |
| Dst |
T |
C |
1: 34,310,503 (GRCm39) |
L4101S |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,126,968 (GRCm39) |
N1407S |
possibly damaging |
Het |
| Faim2 |
C |
T |
15: 99,419,109 (GRCm39) |
E75K |
possibly damaging |
Het |
| Fam237b |
T |
A |
5: 5,625,387 (GRCm39) |
F28I |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,159,454 (GRCm39) |
D2208V |
probably damaging |
Het |
| Fbxo28 |
A |
G |
1: 182,153,950 (GRCm39) |
S129P |
probably damaging |
Het |
| Fbxw14 |
T |
A |
9: 109,105,269 (GRCm39) |
I299L |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,795,357 (GRCm39) |
A1050V |
probably benign |
Het |
| Fyb1 |
C |
A |
15: 6,668,292 (GRCm39) |
T495K |
probably damaging |
Het |
| Ghdc |
A |
T |
11: 100,659,977 (GRCm39) |
W257R |
probably damaging |
Het |
| Gm10719 |
T |
C |
9: 3,018,962 (GRCm39) |
L69S |
probably benign |
Het |
| Gm12250 |
G |
T |
11: 58,079,210 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4846 |
A |
T |
1: 166,311,503 (GRCm39) |
F452Y |
probably damaging |
Het |
| Gpbp1 |
T |
C |
13: 111,577,284 (GRCm39) |
D202G |
probably damaging |
Het |
| Gpd2 |
C |
A |
2: 57,197,025 (GRCm39) |
Y193* |
probably null |
Het |
| Grhl2 |
G |
T |
15: 37,287,493 (GRCm39) |
R229L |
probably benign |
Het |
| Gtf2a1 |
A |
G |
12: 91,542,523 (GRCm39) |
F59L |
possibly damaging |
Het |
| Heatr1 |
G |
T |
13: 12,425,480 (GRCm39) |
W640L |
probably benign |
Het |
| Kalrn |
A |
T |
16: 34,177,785 (GRCm39) |
|
probably null |
Het |
| Keap1 |
T |
C |
9: 21,148,582 (GRCm39) |
T142A |
probably damaging |
Het |
| Kpna2 |
G |
A |
11: 106,882,061 (GRCm39) |
T255M |
probably damaging |
Het |
| Kpna3 |
A |
G |
14: 61,607,838 (GRCm39) |
C456R |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,074,561 (GRCm39) |
|
probably null |
Het |
| Lrrc37 |
T |
C |
11: 103,505,033 (GRCm39) |
T2312A |
possibly damaging |
Het |
| Mag |
C |
A |
7: 30,608,581 (GRCm39) |
E178* |
probably null |
Het |
| Map3k13 |
A |
G |
16: 21,729,769 (GRCm39) |
I467V |
probably benign |
Het |
| Mga |
A |
G |
2: 119,733,782 (GRCm39) |
E210G |
probably damaging |
Het |
| Msi2 |
C |
T |
11: 88,257,610 (GRCm39) |
|
probably null |
Het |
| Naa16 |
A |
T |
14: 79,582,525 (GRCm39) |
D521E |
probably damaging |
Het |
| Nav2 |
C |
T |
7: 48,954,288 (GRCm39) |
|
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Nek5 |
T |
C |
8: 22,586,815 (GRCm39) |
K332R |
probably benign |
Het |
| Nek5 |
T |
A |
8: 22,569,104 (GRCm39) |
I573L |
probably benign |
Het |
| Ntn1 |
CCTTCTTCT |
CCTTCT |
11: 68,103,852 (GRCm39) |
|
probably benign |
Het |
| Odad1 |
A |
C |
7: 45,591,615 (GRCm39) |
E293A |
probably damaging |
Het |
| Or2w1 |
G |
A |
13: 21,317,514 (GRCm39) |
V190I |
probably benign |
Het |
| Or5v1b |
A |
T |
17: 37,841,641 (GRCm39) |
T258S |
possibly damaging |
Het |
| Or6c204 |
T |
A |
10: 129,022,466 (GRCm39) |
T275S |
probably benign |
Het |
| Or8b12b |
T |
A |
9: 37,684,360 (GRCm39) |
M135K |
probably damaging |
Het |
| Orai1 |
T |
G |
5: 123,167,313 (GRCm39) |
V162G |
probably damaging |
Het |
| P2rx6 |
T |
C |
16: 17,385,308 (GRCm39) |
S134P |
probably damaging |
Het |
| Pappa2 |
G |
A |
1: 158,684,706 (GRCm39) |
T811I |
probably null |
Het |
| Pcdhga10 |
T |
C |
18: 37,880,213 (GRCm39) |
|
probably benign |
Het |
| Pex16 |
C |
T |
2: 92,209,405 (GRCm39) |
R241* |
probably null |
Het |
| Plxnb1 |
T |
C |
9: 108,943,904 (GRCm39) |
F1969L |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,297,736 (GRCm39) |
|
probably benign |
Het |
| Prdm15 |
A |
T |
16: 97,607,277 (GRCm39) |
I752N |
probably damaging |
Het |
| Rasgef1c |
A |
T |
11: 49,870,339 (GRCm39) |
K468M |
probably damaging |
Het |
| Rbfox1 |
A |
G |
16: 7,094,952 (GRCm39) |
S111G |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,138,597 (GRCm39) |
D405G |
probably damaging |
Het |
| Rell1 |
A |
G |
5: 64,097,010 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
A |
G |
19: 27,808,072 (GRCm39) |
S224P |
probably damaging |
Het |
| Scarb2 |
A |
T |
5: 92,602,636 (GRCm39) |
I260K |
probably damaging |
Het |
| Septin4 |
A |
G |
11: 87,458,598 (GRCm39) |
N324S |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,680,901 (GRCm39) |
F72L |
probably damaging |
Het |
| Spg7 |
C |
A |
8: 123,816,910 (GRCm39) |
R534S |
probably damaging |
Het |
| Stoml2 |
T |
C |
4: 43,029,589 (GRCm39) |
T164A |
probably benign |
Het |
| Syt11 |
C |
T |
3: 88,669,590 (GRCm39) |
G101S |
possibly damaging |
Het |
| Traj12 |
A |
G |
14: 54,444,013 (GRCm39) |
|
probably benign |
Het |
| Traj7 |
A |
T |
14: 54,448,981 (GRCm39) |
|
probably benign |
Het |
| Tysnd1 |
C |
T |
10: 61,537,855 (GRCm39) |
T175I |
possibly damaging |
Het |
| Usp48 |
T |
G |
4: 137,334,004 (GRCm39) |
Y139* |
probably null |
Het |
| Vmn2r72 |
A |
G |
7: 85,400,317 (GRCm39) |
L244P |
probably benign |
Het |
| Wasf1 |
C |
A |
10: 40,812,186 (GRCm39) |
P325Q |
unknown |
Het |
| Zc3h18 |
T |
A |
8: 123,137,639 (GRCm39) |
|
probably benign |
Het |
| Zfp712 |
A |
G |
13: 67,188,905 (GRCm39) |
S541P |
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 |
|
|
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'- GAAAGACTGCATGCATGGATGTC -3'
(R):5'- CCAAAATGCTGTAATGTGTTGC -3'
Sequencing Primer
(F):5'- TCCTGGAGAGGCAGCTATAAACAC -3'
(R):5'- ATCATGTTCTATTTAGACTGTGCAG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation