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 |
4.1R, Epb4.1, Elp1, Elp-1, D4Ertd442e |
MMRRC Submission |
044657-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6531 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
131650724-131802632 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 131684947 bp (GRCm39)
|
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]
[ENSMUST00000141291]
[ENSMUST00000105975]
[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: 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 |
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 |
|
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 |
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 |
|
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: 91,926,980 (GRCm39) |
E880G |
possibly damaging |
Het |
Acsbg2 |
T |
A |
17: 57,153,617 (GRCm39) |
I529F |
probably damaging |
Het |
Ahcyl2 |
T |
G |
6: 29,886,161 (GRCm39) |
M359R |
probably benign |
Het |
Aldh5a1 |
G |
T |
13: 25,102,547 (GRCm39) |
D305E |
probably benign |
Het |
Catsper2 |
C |
G |
2: 121,230,261 (GRCm39) |
V358L |
possibly damaging |
Het |
Cd200r4 |
C |
T |
16: 44,653,868 (GRCm39) |
Q222* |
probably null |
Het |
Col4a2 |
T |
A |
8: 11,458,135 (GRCm39) |
D270E |
probably benign |
Het |
Cux1 |
T |
C |
5: 136,303,973 (GRCm39) |
D1401G |
probably benign |
Het |
Cyp3a59 |
T |
A |
5: 146,035,027 (GRCm39) |
M235K |
probably benign |
Het |
Dock3 |
T |
C |
9: 106,844,415 (GRCm39) |
D895G |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,584,354 (GRCm39) |
F586L |
probably damaging |
Het |
Elmo1 |
G |
T |
13: 20,756,616 (GRCm39) |
R568L |
possibly damaging |
Het |
Grm7 |
T |
A |
6: 111,335,386 (GRCm39) |
M599K |
probably benign |
Het |
Hivep3 |
A |
T |
4: 119,980,073 (GRCm39) |
K1704* |
probably null |
Het |
Ighv1-62-3 |
C |
A |
12: 115,424,626 (GRCm39) |
C115F |
probably damaging |
Het |
Krt78 |
A |
G |
15: 101,860,708 (GRCm39) |
Y200H |
probably benign |
Het |
Lamb2 |
A |
T |
9: 108,360,925 (GRCm39) |
H549L |
possibly damaging |
Het |
Mroh3 |
A |
G |
1: 136,112,091 (GRCm39) |
I759T |
probably benign |
Het |
Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
Nol6 |
G |
T |
4: 41,118,154 (GRCm39) |
P828T |
probably benign |
Het |
Or1j15 |
G |
A |
2: 36,459,353 (GRCm39) |
V248I |
probably damaging |
Het |
Or4c3 |
A |
G |
2: 89,851,801 (GRCm39) |
V203A |
probably benign |
Het |
Or5m5 |
A |
G |
2: 85,814,651 (GRCm39) |
I156V |
probably benign |
Het |
Or8w1 |
A |
G |
2: 87,465,873 (GRCm39) |
Y73H |
probably damaging |
Het |
Ovgp1 |
A |
C |
3: 105,894,387 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
T |
A |
11: 71,962,313 (GRCm39) |
Q230L |
possibly damaging |
Het |
Pkn1 |
C |
T |
8: 84,396,922 (GRCm39) |
V910I |
probably benign |
Het |
Plcb1 |
T |
A |
2: 135,167,722 (GRCm39) |
|
probably null |
Het |
Ppp1r12c |
A |
G |
7: 4,485,788 (GRCm39) |
|
probably null |
Het |
Rassf5 |
T |
A |
1: 131,172,551 (GRCm39) |
Q106L |
possibly damaging |
Het |
Rfc1 |
T |
C |
5: 65,470,322 (GRCm39) |
K62E |
possibly damaging |
Het |
Sf3b1 |
C |
T |
1: 55,058,554 (GRCm39) |
E12K |
probably damaging |
Het |
Slc4a1ap |
A |
T |
5: 31,705,982 (GRCm39) |
D691V |
probably benign |
Het |
Speg |
T |
A |
1: 75,399,401 (GRCm39) |
F2283I |
probably benign |
Het |
Styxl2 |
A |
T |
1: 165,937,615 (GRCm39) |
|
probably null |
Het |
Synj2 |
A |
G |
17: 6,084,114 (GRCm39) |
K267E |
probably damaging |
Het |
Tg |
A |
T |
15: 66,711,211 (GRCm39) |
Y991F |
probably damaging |
Het |
Tlk1 |
A |
T |
2: 70,572,427 (GRCm39) |
D380E |
probably benign |
Het |
Trim43b |
A |
T |
9: 88,967,418 (GRCm39) |
L405H |
probably damaging |
Het |
Ttf2 |
A |
G |
3: 100,863,576 (GRCm39) |
I586T |
probably damaging |
Het |
Ugt2b36 |
T |
A |
5: 87,229,445 (GRCm39) |
R213S |
probably damaging |
Het |
Vmn1r198 |
T |
A |
13: 22,538,577 (GRCm39) |
M21K |
probably benign |
Het |
Wdr35 |
A |
T |
12: 9,028,685 (GRCm39) |
Y101F |
probably benign |
Het |
Zfp367 |
T |
C |
13: 64,292,064 (GRCm39) |
Y189C |
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 |
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 |
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'- ACAAAGCTTTACTGGCATGAAGTC -3'
(R):5'- GTGTTTTCTGCAGAGCCCAC -3'
Sequencing Primer
(F):5'- CTGGCATGAAGTCAGTTTATAAACAC -3'
(R):5'- ACTCTGCTGGGTTGCCCTAG -3'
|
Posted On |
2018-06-06 |