Incidental Mutation 'R6531:Epb41'
| ID | 522336 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Epb41
|
|---|
| Ensembl Gene |
ENSMUSG00000028906 |
|---|
| Gene Name | erythrocyte membrane protein band 4.1 |
|---|
| Synonyms | Epb4.1, 4.1R, D4Ertd442e, Elp1, Elp-1 |
|---|
| MMRRC Submission |
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Non essential (E-score: 0.000)
|
|---|
| Stock # | R6531 (G1)
|
|---|
| Quality Score | 225.009 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 4 |
|---|
| Chromosomal Location | 131923413-132075321 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to C
at 131957636 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Threonine to Alanine
at position 711
(T711A)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120236
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030739]
[ENSMUST00000054917]
[ENSMUST00000084253]
[ENSMUST00000105970]
[ENSMUST00000105972]
[ENSMUST00000105974]
[ENSMUST00000105975]
[ENSMUST00000105981]
[ENSMUST00000137846]
[ENSMUST00000141291]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030739
|
|---|
| SMART Domains |
Protein: ENSMUSP00000030739
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 |
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: ENSMUST00000054917
|
|---|
| SMART Domains |
Protein: ENSMUSP00000060375
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 |
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 benign
Transcript: ENSMUST00000084253
|
|---|
| SMART Domains |
Protein: ENSMUSP00000081274
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 |
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 benign
Transcript: ENSMUST00000105970
|
|---|
| SMART Domains |
Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906
| 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 benign
Transcript: ENSMUST00000105972
|
|---|
| SMART Domains |
Protein: ENSMUSP00000101592
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 |
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 benign
Transcript: ENSMUST00000105975
|
|---|
| SMART Domains |
Protein: ENSMUSP00000101595
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
|
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 benign
Transcript: ENSMUST00000105981
|
|---|
| SMART Domains |
Protein: ENSMUSP00000101601
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 |
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: ENSMUST00000135579
|
|---|
| SMART Domains |
Protein: ENSMUSP00000121764
Gene: ENSMUSG00000028906
| 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 |
probably benign
Transcript: ENSMUST00000137846
|
|---|
| SMART Domains |
Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906
| 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 benign
Transcript: ENSMUST00000141291
AA Change: T711A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906
AA Change: T711A
| 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 |
probably benign
Transcript: ENSMUST00000212761
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146021
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146443
|
|---|
| SMART Domains |
Protein: ENSMUSP00000122234
Gene: ENSMUSG00000028906
| 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 |
|
|---|
| Meta Mutation Damage Score |
0.0861
|
|---|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.6%
|
|---|
| Validation Efficiency |
100% (46/46) |
|---|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,949,999 |
E880G |
possibly damaging |
Het |
| Acsbg2 |
T |
A |
17: 56,846,617 |
I529F |
probably damaging |
Het |
| Ahcyl2 |
T |
G |
6: 29,886,162 |
M359R |
probably benign |
Het |
| Aldh5a1 |
G |
T |
13: 24,918,564 |
D305E |
probably benign |
Het |
| Catsper2 |
C |
G |
2: 121,399,780 |
V358L |
possibly damaging |
Het |
| Cd200r4 |
C |
T |
16: 44,833,505 |
Q222* |
probably null |
Het |
| Col4a2 |
T |
A |
8: 11,408,135 |
D270E |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,275,119 |
D1401G |
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,098,217 |
M235K |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,967,216 |
D895G |
probably benign |
Het |
| Dusp27 |
A |
T |
1: 166,110,046 |
|
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,617,920 |
F586L |
probably damaging |
Het |
| Elmo1 |
G |
T |
13: 20,572,446 |
R568L |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 111,358,425 |
M599K |
probably benign |
Het |
| Hivep3 |
A |
T |
4: 120,122,876 |
K1704* |
probably null |
Het |
| Ighv1-62-3 |
C |
A |
12: 115,461,006 |
C115F |
probably damaging |
Het |
| Krt78 |
A |
G |
15: 101,952,273 |
Y200H |
probably benign |
Het |
| Lamb2 |
A |
T |
9: 108,483,726 |
H549L |
possibly damaging |
Het |
| Mroh3 |
A |
G |
1: 136,184,353 |
I759T |
probably benign |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,956,343 |
|
probably null |
Het |
| Nol6 |
G |
T |
4: 41,118,154 |
P828T |
probably benign |
Het |
| Olfr1030 |
A |
G |
2: 85,984,307 |
I156V |
probably benign |
Het |
| Olfr1132 |
A |
G |
2: 87,635,529 |
Y73H |
probably damaging |
Het |
| Olfr1264 |
A |
G |
2: 90,021,457 |
V203A |
probably benign |
Het |
| Olfr344 |
G |
A |
2: 36,569,341 |
V248I |
probably damaging |
Het |
| Ovgp1 |
A |
C |
3: 105,987,071 |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 72,071,487 |
Q230L |
possibly damaging |
Het |
| Pkn1 |
C |
T |
8: 83,670,293 |
V910I |
probably benign |
Het |
| Plcb1 |
T |
A |
2: 135,325,802 |
|
probably null |
Het |
| Ppp1r12c |
A |
G |
7: 4,482,789 |
|
probably null |
Het |
| Rassf5 |
T |
A |
1: 131,244,814 |
Q106L |
possibly damaging |
Het |
| Rfc1 |
T |
C |
5: 65,312,979 |
K62E |
possibly damaging |
Het |
| Sf3b1 |
C |
T |
1: 55,019,395 |
E12K |
probably damaging |
Het |
| Slc4a1ap |
A |
T |
5: 31,548,638 |
D691V |
probably benign |
Het |
| Speg |
T |
A |
1: 75,422,757 |
F2283I |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,033,839 |
K267E |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,839,362 |
Y991F |
probably damaging |
Het |
| Tlk1 |
A |
T |
2: 70,742,083 |
D380E |
probably benign |
Het |
| Trim43b |
A |
T |
9: 89,085,365 |
L405H |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,956,260 |
I586T |
probably damaging |
Het |
| Ugt2b36 |
T |
A |
5: 87,081,586 |
R213S |
probably damaging |
Het |
| Vmn1r198 |
T |
A |
13: 22,354,407 |
M21K |
probably benign |
Het |
| Wdr35 |
A |
T |
12: 8,978,685 |
Y101F |
probably benign |
Het |
| Zfp367 |
T |
C |
13: 64,144,250 |
Y189C |
probably damaging |
Het |
|
|---|
| Other mutations in Epb41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Epb41
|
APN |
4 |
131974731 |
missense |
probably benign |
|
|
IGL00897:Epb41
|
APN |
4 |
132000197 |
splice site |
probably null |
|
|
IGL00911:Epb41
|
APN |
4 |
131989784 |
missense |
possibly damaging |
0.60 |
|
IGL01390:Epb41
|
APN |
4 |
132003737 |
missense |
probably benign |
|
|
IGL01459:Epb41
|
APN |
4 |
131964128 |
intron |
probably benign |
|
|
IGL01816:Epb41
|
APN |
4 |
132003695 |
missense |
probably benign |
0.00 |
|
IGL02192:Epb41
|
APN |
4 |
131929717 |
missense |
probably damaging |
0.99 |
|
IGL02296:Epb41
|
APN |
4 |
132003754 |
missense |
probably benign |
0.42 |
|
IGL03011:Epb41
|
APN |
4 |
132003794 |
missense |
probably damaging |
1.00 |
|
IGL03268:Epb41
|
APN |
4 |
131928495 |
missense |
probably damaging |
1.00 |
|
IGL03388:Epb41
|
APN |
4 |
131974794 |
missense |
probably damaging |
1.00 |
|
R0355:Epb41
|
UTSW |
4 |
132000261 |
missense |
probably damaging |
0.99 |
|
R0532:Epb41
|
UTSW |
4 |
131978795 |
splice site |
probably benign |
|
|
R0550:Epb41
|
UTSW |
4 |
131975613 |
missense |
probably damaging |
1.00 |
|
R0571:Epb41
|
UTSW |
4 |
131989904 |
missense |
probably damaging |
1.00 |
|
R1158:Epb41
|
UTSW |
4 |
132000191 |
splice site |
probably benign |
|
|
R1444:Epb41
|
UTSW |
4 |
132006071 |
missense |
probably benign |
|
|
R2106:Epb41
|
UTSW |
4 |
131989841 |
missense |
probably damaging |
1.00 |
|
R2269:Epb41
|
UTSW |
4 |
131964147 |
missense |
probably benign |
0.09 |
|
R4014:Epb41
|
UTSW |
4 |
131982445 |
splice site |
probably benign |
|
|
R4017:Epb41
|
UTSW |
4 |
131982445 |
splice site |
probably benign |
|
|
R4952:Epb41
|
UTSW |
4 |
132000270 |
missense |
probably damaging |
0.99 |
|
R4976:Epb41
|
UTSW |
4 |
131937436 |
unclassified |
probably benign |
|
|
R5058:Epb41
|
UTSW |
4 |
132007435 |
utr 5 prime |
probably benign |
|
|
R5119:Epb41
|
UTSW |
4 |
131937436 |
unclassified |
probably benign |
|
|
R5229:Epb41
|
UTSW |
4 |
131978935 |
missense |
probably damaging |
1.00 |
|
R5571:Epb41
|
UTSW |
4 |
131937406 |
unclassified |
probably benign |
|
|
R6250:Epb41
|
UTSW |
4 |
131989873 |
missense |
probably damaging |
1.00 |
|
R6890:Epb41
|
UTSW |
4 |
131935829 |
missense |
probably damaging |
0.98 |
|
R7265:Epb41
|
UTSW |
4 |
131967834 |
missense |
unknown |
|
|
R7289:Epb41
|
UTSW |
4 |
131991209 |
critical splice donor site |
probably null |
|
|
R7322:Epb41
|
UTSW |
4 |
131989719 |
missense |
probably damaging |
0.99 |
|
R7823:Epb41
|
UTSW |
4 |
131974682 |
critical splice donor site |
probably null |
|
|
R8296:Epb41
|
UTSW |
4 |
131937461 |
missense |
|
|
|
R8317:Epb41
|
UTSW |
4 |
131957650 |
missense |
|
|
|
R8401:Epb41
|
UTSW |
4 |
131974707 |
missense |
probably damaging |
1.00 |
|
X0066:Epb41
|
UTSW |
4 |
131974740 |
missense |
probably damaging |
1.00 |
|
Z1177:Epb41
|
UTSW |
4 |
132006083 |
missense |
probably benign |
|
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- ACAAAGCTTTACTGGCATGAAGTC -3'
(R):5'- GTGTTTTCTGCAGAGCCCAC -3'
Sequencing Primer
(F):5'- CTGGCATGAAGTCAGTTTATAAACAC -3'
(R):5'- ACTCTGCTGGGTTGCCCTAG -3'
|
|---|
| Posted On | 2018-06-06 |
|---|
