Incidental Mutation 'R0571:Epb41'
| ID |
46445 |
| 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 |
038762-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0571 (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 131717215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 313
(D313G)
|
| 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: D313G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906
AA Change: D313G
| 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: D313G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906
AA Change: D313G
| 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: D313G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906
AA Change: D313G
| 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: D161G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906
AA Change: D161G
| 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: D313G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906
AA Change: D313G
| 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: D278G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101594
Gene: ENSMUSG00000028906
AA Change: D278G
| 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: D338G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906
AA Change: D338G
| 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: D155G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906
AA Change: D155G
| 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: D313G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906
AA Change: D313G
| 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: D313G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906
AA Change: D313G
| 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 |
unknown
Transcript: ENSMUST00000212761
AA Change: D35G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146021
|
| Meta Mutation Damage Score |
0.9657 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.7%
|
| Validation Efficiency |
100% (71/71) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd4 |
C |
T |
14: 54,500,706 (GRCm39) |
T165I |
possibly damaging |
Het |
| Acsl5 |
A |
G |
19: 55,277,343 (GRCm39) |
|
probably benign |
Het |
| Actl6b |
C |
A |
5: 137,565,046 (GRCm39) |
|
probably benign |
Het |
| Atg13 |
T |
C |
2: 91,509,063 (GRCm39) |
|
probably benign |
Het |
| Cabyr |
A |
G |
18: 12,883,909 (GRCm39) |
E132G |
probably damaging |
Het |
| Cadps2 |
C |
T |
6: 23,583,411 (GRCm39) |
V389I |
probably damaging |
Het |
| Capn2 |
C |
T |
1: 182,298,325 (GRCm39) |
V647I |
probably benign |
Het |
| Card10 |
G |
T |
15: 78,671,601 (GRCm39) |
P621Q |
possibly damaging |
Het |
| Catsperb |
C |
G |
12: 101,569,033 (GRCm39) |
H902D |
possibly damaging |
Het |
| Cers3 |
A |
G |
7: 66,435,805 (GRCm39) |
M255V |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,030,071 (GRCm39) |
|
probably null |
Het |
| Chd3 |
A |
C |
11: 69,252,495 (GRCm39) |
|
probably null |
Het |
| Chpf2 |
G |
T |
5: 24,795,425 (GRCm39) |
R316L |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,713,550 (GRCm39) |
N694Y |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,289,277 (GRCm39) |
D2909G |
unknown |
Het |
| Ctbp2 |
G |
A |
7: 132,616,534 (GRCm39) |
L44F |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,381,102 (GRCm39) |
M1365V |
probably benign |
Het |
| D130052B06Rik |
G |
A |
11: 33,573,922 (GRCm39) |
R173H |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,421,203 (GRCm39) |
F406L |
probably damaging |
Het |
| Ddx43 |
T |
A |
9: 78,321,145 (GRCm39) |
N384K |
possibly damaging |
Het |
| Drd5 |
G |
A |
5: 38,477,270 (GRCm39) |
V88M |
probably damaging |
Het |
| Eefsec |
A |
T |
6: 88,274,881 (GRCm39) |
F361Y |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,748,580 (GRCm39) |
M104T |
probably damaging |
Het |
| Fabp7 |
A |
T |
10: 57,661,637 (GRCm39) |
T37S |
probably benign |
Het |
| Fam186b |
T |
C |
15: 99,184,834 (GRCm39) |
T30A |
probably benign |
Het |
| Fam83d |
G |
A |
2: 158,627,611 (GRCm39) |
W433* |
probably null |
Het |
| Fmnl2 |
A |
T |
2: 52,944,503 (GRCm39) |
T161S |
probably benign |
Het |
| Ghsr |
C |
T |
3: 27,426,165 (GRCm39) |
R74C |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Gtpbp4 |
A |
T |
13: 9,040,722 (GRCm39) |
|
probably benign |
Het |
| Hamp2 |
A |
G |
7: 30,623,511 (GRCm39) |
L17P |
possibly damaging |
Het |
| Heatr1 |
C |
A |
13: 12,445,121 (GRCm39) |
S1581R |
probably damaging |
Het |
| Hpf1 |
T |
C |
8: 61,353,147 (GRCm39) |
V176A |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,240,735 (GRCm39) |
|
probably null |
Het |
| Ighg2c |
G |
A |
12: 113,252,382 (GRCm39) |
Q57* |
probably null |
Het |
| Itgb4 |
A |
G |
11: 115,870,594 (GRCm39) |
N141S |
possibly damaging |
Het |
| Kif13b |
G |
T |
14: 64,988,977 (GRCm39) |
R786L |
probably damaging |
Het |
| Lhx3 |
C |
A |
2: 26,091,136 (GRCm39) |
W391L |
probably damaging |
Het |
| Map1s |
T |
A |
8: 71,365,551 (GRCm39) |
V152D |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,865,834 (GRCm39) |
M608T |
probably benign |
Het |
| Mb21d2 |
G |
A |
16: 28,748,324 (GRCm39) |
A31V |
probably benign |
Het |
| Mfn1 |
T |
C |
3: 32,615,621 (GRCm39) |
I328T |
probably damaging |
Het |
| Mif-ps9 |
G |
A |
19: 56,743,675 (GRCm39) |
|
noncoding transcript |
Het |
| Myh4 |
A |
T |
11: 67,141,157 (GRCm39) |
I740F |
possibly damaging |
Het |
| Neo1 |
A |
G |
9: 58,893,069 (GRCm39) |
V191A |
probably benign |
Het |
| Nfatc4 |
T |
C |
14: 56,067,485 (GRCm39) |
V565A |
probably damaging |
Het |
| Nrxn2 |
G |
C |
19: 6,523,563 (GRCm39) |
E525D |
probably damaging |
Het |
| Or12k8 |
T |
C |
2: 36,975,346 (GRCm39) |
H138R |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,570,261 (GRCm39) |
D469V |
probably damaging |
Het |
| Pcdhb6 |
G |
T |
18: 37,468,167 (GRCm39) |
V363L |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,808,957 (GRCm39) |
T78A |
probably benign |
Het |
| Primpol |
T |
G |
8: 47,034,674 (GRCm39) |
D418A |
probably damaging |
Het |
| Rbm12b1 |
G |
A |
4: 12,146,248 (GRCm39) |
S740N |
probably benign |
Het |
| Rpe65 |
T |
C |
3: 159,305,986 (GRCm39) |
L15P |
probably damaging |
Het |
| Rxrb |
CGCGGCGGCGGCGGCGGCGGC |
CGCGGCGGCGGCGGCGGC |
17: 34,251,106 (GRCm39) |
|
probably benign |
Het |
| Sectm1a |
A |
G |
11: 120,959,928 (GRCm39) |
|
probably benign |
Het |
| Sft2d1 |
C |
A |
17: 8,545,782 (GRCm39) |
|
probably benign |
Het |
| Slc22a18 |
A |
G |
7: 143,045,598 (GRCm39) |
|
probably benign |
Het |
| Slu7 |
G |
A |
11: 43,332,405 (GRCm39) |
|
probably null |
Het |
| Smc4 |
T |
C |
3: 68,931,622 (GRCm39) |
V572A |
probably damaging |
Het |
| Spire2 |
T |
A |
8: 124,080,855 (GRCm39) |
I33N |
probably damaging |
Het |
| Tbck |
T |
A |
3: 132,458,403 (GRCm39) |
C678S |
probably damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,797,539 (GRCm39) |
V1362A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,570,326 (GRCm39) |
K25110E |
possibly damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,148,793 (GRCm39) |
S15G |
possibly damaging |
Het |
| Upf3a |
T |
A |
8: 13,842,184 (GRCm39) |
I200K |
probably damaging |
Het |
| Vill |
G |
C |
9: 118,899,701 (GRCm39) |
G295A |
possibly damaging |
Het |
| Vmn1r191 |
A |
T |
13: 22,363,217 (GRCm39) |
V179D |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,601,629 (GRCm39) |
T670A |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,643,166 (GRCm39) |
T654A |
possibly damaging |
Het |
| Zfp646 |
A |
G |
7: 127,481,138 (GRCm39) |
E1105G |
probably damaging |
Het |
| Zyg11b |
A |
T |
4: 108,117,239 (GRCm39) |
Y334N |
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 |
|
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'- TGAACTCAGGGTGGCTCTTCCTATG -3'
(R):5'- ACTGACCAATTACCTGCCATGCTTC -3'
Sequencing Primer
(F):5'- GGCTCTTCCTATGGCAAACAATG -3'
(R):5'- TGCCATGCTTCCTTAGCAAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation