Incidental Mutation 'R8317:Epb41'
| ID |
641735 |
| 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 |
067721-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8317 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
131650724-131802632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 131684961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 86
(G86V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030739]
[ENSMUST00000054917]
[ENSMUST00000084253]
[ENSMUST00000105970]
[ENSMUST00000105972]
[ENSMUST00000105974]
[ENSMUST00000105975]
[ENSMUST00000105981]
[ENSMUST00000137846]
[ENSMUST00000141291]
|
| AlphaFold |
P48193 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030739
AA Change: G720V
PolyPhen 2
Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906
AA Change: G720V
| 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: G666V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906
AA Change: G666V
| 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: G666V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906
AA Change: G666V
| 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 |
possibly damaging
Transcript: ENSMUST00000105970
AA Change: G535V
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906
AA Change: G535V
| 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 |
possibly damaging
Transcript: ENSMUST00000105972
AA Change: G720V
PolyPhen 2
Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906
AA Change: G720V
| 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: G631V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101594
Gene: ENSMUSG00000028906
AA Change: G631V
| 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 |
possibly damaging
Transcript: ENSMUST00000105975
AA Change: G731V
PolyPhen 2
Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906
AA Change: G731V
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121764
Gene: ENSMUSG00000028906
AA Change: G86V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAB
|
28 |
76 |
2e-24 |
PFAM |
|
low complexity region
|
148 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
217 |
N/A |
INTRINSIC |
|
Pfam:4_1_CTD
|
264 |
371 |
6.6e-52 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105981
AA Change: G720V
PolyPhen 2
Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906
AA Change: G720V
| 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 |
possibly damaging
Transcript: ENSMUST00000137846
AA Change: G529V
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906
AA Change: G529V
| 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: G706V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906
AA Change: G706V
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000122234
Gene: ENSMUSG00000028906
AA Change: G111V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
53 |
101 |
7e-26 |
PFAM |
|
Pfam:4_1_CTD
|
139 |
246 |
2.8e-52 |
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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,723,236 (GRCm39) |
V621M |
probably damaging |
Het |
| Adipor1 |
C |
T |
1: 134,355,905 (GRCm39) |
R235W |
probably benign |
Het |
| Agbl1 |
T |
A |
7: 76,071,929 (GRCm39) |
M594K |
unknown |
Het |
| Ang2 |
A |
G |
14: 51,433,349 (GRCm39) |
V11A |
probably benign |
Het |
| Ccl25 |
A |
G |
8: 4,404,138 (GRCm39) |
N80S |
probably benign |
Het |
| Cd19 |
A |
T |
7: 126,012,615 (GRCm39) |
C259* |
probably null |
Het |
| Cd209b |
A |
T |
8: 3,972,018 (GRCm39) |
I177N |
probably damaging |
Het |
| Cdc20 |
C |
A |
4: 118,294,323 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,147,037 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
G |
A |
10: 60,272,568 (GRCm39) |
R536W |
probably damaging |
Het |
| Cfap299 |
A |
C |
5: 98,885,459 (GRCm39) |
H122P |
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,832,241 (GRCm39) |
D977G |
probably damaging |
Het |
| Cilk1 |
T |
A |
9: 78,060,933 (GRCm39) |
V193E |
probably damaging |
Het |
| Csl |
T |
G |
10: 99,594,900 (GRCm39) |
H55P |
probably damaging |
Het |
| Cstf2t |
G |
A |
19: 31,061,648 (GRCm39) |
A395T |
probably benign |
Het |
| Dhx58 |
A |
T |
11: 100,594,388 (GRCm39) |
I101N |
probably damaging |
Het |
| Dlg5 |
A |
C |
14: 24,241,298 (GRCm39) |
S200A |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,012,659 (GRCm39) |
V2318A |
possibly damaging |
Het |
| Fbxo32 |
A |
T |
15: 58,068,626 (GRCm39) |
F119I |
probably damaging |
Het |
| Flacc1 |
T |
C |
1: 58,715,707 (GRCm39) |
K170E |
possibly damaging |
Het |
| Fndc1 |
A |
T |
17: 8,019,720 (GRCm39) |
L153* |
probably null |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,866 (GRCm39) |
|
probably benign |
Het |
| Gm4559 |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
7: 141,827,553 (GRCm39) |
|
probably benign |
Het |
| Gpr63 |
A |
T |
4: 25,008,223 (GRCm39) |
T316S |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,304,538 (GRCm39) |
T665A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,848,784 (GRCm39) |
N272S |
probably damaging |
Het |
| Map3k1 |
T |
C |
13: 111,894,696 (GRCm39) |
Y660C |
probably damaging |
Het |
| Mbd3l1 |
C |
A |
9: 18,396,117 (GRCm39) |
L81I |
probably benign |
Het |
| Morc3 |
C |
A |
16: 93,659,417 (GRCm39) |
Q442K |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,569,339 (GRCm39) |
T1060I |
unknown |
Het |
| Myh11 |
T |
A |
16: 14,025,941 (GRCm39) |
D1343V |
|
Het |
| Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
| Nbn |
T |
G |
4: 15,970,893 (GRCm39) |
L292W |
probably damaging |
Het |
| Ndufb11b |
A |
G |
15: 81,864,978 (GRCm39) |
Y73C |
probably damaging |
Het |
| Nebl |
A |
G |
2: 17,355,568 (GRCm39) |
M195T |
possibly damaging |
Het |
| Net1 |
T |
C |
13: 3,957,856 (GRCm39) |
K66E |
possibly damaging |
Het |
| Nod1 |
T |
C |
6: 54,920,425 (GRCm39) |
Y631C |
probably damaging |
Het |
| Nxf1 |
A |
G |
19: 8,748,407 (GRCm39) |
H12R |
probably benign |
Het |
| Onecut3 |
T |
C |
10: 80,331,161 (GRCm39) |
L107P |
unknown |
Het |
| Opa1 |
T |
G |
16: 29,432,962 (GRCm39) |
I512S |
probably damaging |
Het |
| P3h3 |
C |
T |
6: 124,832,116 (GRCm39) |
G257R |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,592,530 (GRCm39) |
C1616R |
probably damaging |
Het |
| Parn |
T |
G |
16: 13,358,964 (GRCm39) |
K593Q |
probably damaging |
Het |
| Pcare |
A |
C |
17: 72,056,197 (GRCm39) |
L1160R |
probably benign |
Het |
| Polr3g |
T |
C |
13: 81,826,302 (GRCm39) |
K173R |
unknown |
Het |
| Prcp |
A |
G |
7: 92,524,598 (GRCm39) |
T18A |
probably benign |
Het |
| Sash1 |
G |
A |
10: 8,605,150 (GRCm39) |
T1080M |
possibly damaging |
Het |
| Skap2 |
A |
G |
6: 51,884,865 (GRCm39) |
|
probably null |
Het |
| Spmip9 |
C |
A |
6: 70,890,276 (GRCm39) |
W172L |
possibly damaging |
Het |
| Srebf1 |
C |
A |
11: 60,091,483 (GRCm39) |
S1014I |
possibly damaging |
Het |
| Stk32b |
C |
T |
5: 37,612,319 (GRCm39) |
E356K |
probably damaging |
Het |
| Tjp3 |
T |
A |
10: 81,116,324 (GRCm39) |
T257S |
probably benign |
Het |
| Trf |
A |
G |
9: 103,094,715 (GRCm39) |
Y448H |
probably damaging |
Het |
| Tsnaxip1 |
G |
C |
8: 106,554,438 (GRCm39) |
R7P |
probably benign |
Het |
| Vmn1r208 |
G |
C |
13: 22,956,947 (GRCm39) |
I183M |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,785,834 (GRCm39) |
M724L |
probably benign |
Het |
| Wdhd1 |
A |
T |
14: 47,500,994 (GRCm39) |
H469Q |
probably damaging |
Het |
| Zbtb7a |
G |
C |
10: 80,980,784 (GRCm39) |
G326A |
probably benign |
Het |
| Zfp493 |
G |
A |
13: 67,931,958 (GRCm39) |
R19H |
probably benign |
Het |
| Zfp932 |
A |
T |
5: 110,156,922 (GRCm39) |
K207* |
probably null |
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 |
|
R7823:Epb41
|
UTSW |
4 |
131,701,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8296:Epb41
|
UTSW |
4 |
131,664,772 (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'- GACCGAGCTACCTAAATGATCAG -3'
(R):5'- GTTTTCTGCAGAGCCCACTC -3'
Sequencing Primer
(F):5'- CAGGAGTGTTTTATAGCAGCAACAC -3'
(R):5'- ACTCTGCTGGGTTGCCCTAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation