Incidental Mutation 'R4014:Epb41'
ID |
311855 |
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 |
040951-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4014 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
131650724-131802632 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 131709756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030739]
[ENSMUST00000054917]
[ENSMUST00000084253]
[ENSMUST00000105970]
[ENSMUST00000105972]
[ENSMUST00000105974]
[ENSMUST00000105975]
[ENSMUST00000141291]
[ENSMUST00000105981]
[ENSMUST00000137846]
|
AlphaFold |
P48193 |
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 |
noncoding transcript
Transcript: ENSMUST00000144754
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146021
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141291
|
SMART Domains |
Protein: ENSMUSP00000120236 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
|
647 |
695 |
1.3e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212761
|
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: 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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (49/49) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,811,559 (GRCm39) |
Q1008L |
probably benign |
Het |
Adgrg7 |
A |
G |
16: 56,562,651 (GRCm39) |
F562S |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,655,334 (GRCm39) |
N3293K |
probably benign |
Het |
Cdk20 |
T |
A |
13: 64,585,319 (GRCm39) |
V201D |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,385,356 (GRCm39) |
V2308A |
probably benign |
Het |
Chek1 |
T |
C |
9: 36,634,050 (GRCm39) |
|
probably benign |
Het |
Ciz1 |
G |
T |
2: 32,264,356 (GRCm39) |
E497D |
probably damaging |
Het |
Clcn6 |
A |
G |
4: 148,102,067 (GRCm39) |
F339S |
probably damaging |
Het |
Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
Dennd5a |
C |
T |
7: 109,534,688 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
G |
A |
18: 49,997,029 (GRCm39) |
V442I |
probably benign |
Het |
Dmxl2 |
C |
A |
9: 54,285,993 (GRCm39) |
|
probably null |
Het |
Dnah11 |
A |
G |
12: 117,938,649 (GRCm39) |
I3273T |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,364,045 (GRCm39) |
D4132E |
probably damaging |
Het |
Dst |
G |
A |
1: 34,230,363 (GRCm39) |
W2327* |
probably null |
Het |
Frem2 |
C |
T |
3: 53,559,774 (GRCm39) |
V1578I |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,813,862 (GRCm39) |
T3394A |
probably benign |
Het |
Gabra5 |
C |
T |
7: 57,138,758 (GRCm39) |
D97N |
probably damaging |
Het |
Habp2 |
A |
G |
19: 56,308,054 (GRCm39) |
E546G |
probably benign |
Het |
Hace1 |
A |
G |
10: 45,464,470 (GRCm39) |
|
probably benign |
Het |
Herc4 |
T |
C |
10: 63,123,323 (GRCm39) |
S433P |
probably benign |
Het |
Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
Krt26 |
C |
T |
11: 99,226,128 (GRCm39) |
G189S |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,860,372 (GRCm39) |
D3038E |
probably damaging |
Het |
Lmbrd2 |
T |
C |
15: 9,151,672 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
Map2k7 |
T |
A |
8: 4,297,663 (GRCm39) |
S421R |
possibly damaging |
Het |
Matn1 |
A |
G |
4: 130,679,258 (GRCm39) |
Q304R |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,575,647 (GRCm39) |
|
probably benign |
Het |
Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
Mzf1 |
A |
G |
7: 12,777,883 (GRCm39) |
V586A |
possibly damaging |
Het |
Or7g12 |
T |
C |
9: 18,900,178 (GRCm39) |
V298A |
probably benign |
Het |
Or9g20 |
A |
T |
2: 85,629,820 (GRCm39) |
Y265N |
probably damaging |
Het |
Pcdhgb7 |
A |
T |
18: 37,885,416 (GRCm39) |
E195D |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,412,822 (GRCm39) |
D199G |
probably benign |
Het |
Rnf213 |
C |
T |
11: 119,336,555 (GRCm39) |
Q3309* |
probably null |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc22a4 |
C |
G |
11: 53,888,218 (GRCm39) |
C270S |
probably benign |
Het |
Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
Spata31d1c |
T |
C |
13: 65,183,213 (GRCm39) |
S252P |
probably damaging |
Het |
Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
Urb1 |
A |
T |
16: 90,566,353 (GRCm39) |
M1478K |
probably damaging |
Het |
Usp1 |
A |
G |
4: 98,822,939 (GRCm39) |
D751G |
probably damaging |
Het |
Vmn1r214 |
G |
A |
13: 23,219,520 (GRCm39) |
C338Y |
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 20,013,866 (GRCm39) |
I219M |
possibly damaging |
Het |
Wwp2 |
A |
G |
8: 108,212,253 (GRCm39) |
N139S |
probably benign |
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 |
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'- TAGTGCTGAGATTCTAGGCATG -3'
(R):5'- TCTCATCCCGTAATTATGTTGAGG -3'
Sequencing Primer
(F):5'- CCAGGCCAAAAATTGTTTCTCAGG -3'
(R):5'- GAGGATTCAAAAATGTGTGTATGTG -3'
|
Posted On |
2015-04-29 |