Incidental Mutation 'R8401:Epb41'
ID |
652184 |
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 |
067877-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8401 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
131650724-131802632 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 131702018 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 539
(R539Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030739]
[ENSMUST00000054917]
[ENSMUST00000084253]
[ENSMUST00000105970]
[ENSMUST00000105972]
[ENSMUST00000105974]
[ENSMUST00000105975]
[ENSMUST00000105981]
[ENSMUST00000137846]
[ENSMUST00000141291]
|
AlphaFold |
P48193 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030739
AA Change: R539Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030739 Gene: ENSMUSG00000028906 AA Change: R539Q
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: R539Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060375 Gene: ENSMUSG00000028906 AA Change: R539Q
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: R539Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081274 Gene: ENSMUSG00000028906 AA Change: R539Q
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: R387Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101590 Gene: ENSMUSG00000028906 AA Change: R387Q
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: R539Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101592 Gene: ENSMUSG00000028906 AA Change: R539Q
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: R504Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101594 Gene: ENSMUSG00000028906 AA Change: R504Q
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: R564Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101595 Gene: ENSMUSG00000028906 AA Change: R564Q
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: ENSMUST00000105981
AA Change: R539Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101601 Gene: ENSMUSG00000028906 AA Change: R539Q
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: ENSMUST00000137846
AA Change: R381Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123623 Gene: ENSMUSG00000028906 AA Change: R381Q
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: R539Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120236 Gene: ENSMUSG00000028906 AA Change: R539Q
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
Validation Efficiency |
98% (55/56) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd28 |
T |
C |
14: 31,467,251 (GRCm39) |
Y207C |
probably damaging |
Het |
Ano8 |
T |
C |
8: 71,936,011 (GRCm39) |
D235G |
probably damaging |
Het |
Atp2b4 |
T |
A |
1: 133,659,574 (GRCm39) |
I463F |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,475,817 (GRCm39) |
I2509N |
probably damaging |
Het |
Brinp3 |
T |
C |
1: 146,777,184 (GRCm39) |
S544P |
probably benign |
Het |
Chd1 |
A |
G |
17: 15,963,473 (GRCm39) |
Y824C |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,870,904 (GRCm39) |
V330A |
probably benign |
Het |
Dct |
T |
C |
14: 118,280,615 (GRCm39) |
T134A |
possibly damaging |
Het |
Ddx56 |
T |
C |
11: 6,214,199 (GRCm39) |
D350G |
probably damaging |
Het |
Ddx60 |
C |
T |
8: 62,409,277 (GRCm39) |
L438F |
possibly damaging |
Het |
Dnah17 |
T |
A |
11: 117,915,485 (GRCm39) |
K4378M |
probably damaging |
Het |
Drc7 |
C |
T |
8: 95,800,763 (GRCm39) |
S595F |
probably benign |
Het |
Foxred2 |
T |
C |
15: 77,836,191 (GRCm39) |
I389V |
probably damaging |
Het |
Gan |
C |
A |
8: 117,910,242 (GRCm39) |
T57K |
possibly damaging |
Het |
Glra3 |
T |
C |
8: 56,542,124 (GRCm39) |
V289A |
probably damaging |
Het |
Grk1 |
T |
C |
8: 13,457,846 (GRCm39) |
F249L |
probably damaging |
Het |
Grk6 |
G |
A |
13: 55,599,981 (GRCm39) |
A258T |
possibly damaging |
Het |
Hars1 |
T |
C |
18: 36,904,243 (GRCm39) |
N212S |
possibly damaging |
Het |
Ikzf2 |
C |
A |
1: 69,578,254 (GRCm39) |
Q418H |
probably damaging |
Het |
Ikzf2 |
T |
G |
1: 69,578,255 (GRCm39) |
Q418P |
probably damaging |
Het |
Klre1 |
T |
A |
6: 129,556,989 (GRCm39) |
N30K |
probably benign |
Het |
Lama5 |
G |
T |
2: 179,840,580 (GRCm39) |
D606E |
probably damaging |
Het |
Lca5l |
T |
C |
16: 95,963,760 (GRCm39) |
K393R |
probably damaging |
Het |
Lmbrd2 |
A |
T |
15: 9,156,294 (GRCm39) |
I124F |
possibly damaging |
Het |
Loxhd1 |
C |
A |
18: 77,468,156 (GRCm39) |
P935T |
probably damaging |
Het |
Nes |
T |
C |
3: 87,885,388 (GRCm39) |
S1216P |
possibly damaging |
Het |
Nim1k |
A |
G |
13: 120,174,213 (GRCm39) |
L227P |
probably damaging |
Het |
Nkx2-1 |
C |
A |
12: 56,579,841 (GRCm39) |
L366F |
probably damaging |
Het |
Nol6 |
C |
A |
4: 41,119,548 (GRCm39) |
R586L |
possibly damaging |
Het |
Ogdh |
T |
A |
11: 6,247,174 (GRCm39) |
L66* |
probably null |
Het |
Or2b28 |
A |
T |
13: 21,531,997 (GRCm39) |
I300L |
probably benign |
Het |
Orm3 |
A |
G |
4: 63,274,467 (GRCm39) |
S11G |
possibly damaging |
Het |
Pkn3 |
C |
A |
2: 29,970,071 (GRCm39) |
S126R |
probably benign |
Het |
Pnpla8 |
T |
A |
12: 44,335,091 (GRCm39) |
D442E |
probably damaging |
Het |
Pop1 |
A |
T |
15: 34,508,755 (GRCm39) |
T277S |
probably damaging |
Het |
Prkag2 |
T |
C |
5: 25,068,868 (GRCm39) |
T563A |
probably benign |
Het |
Prkdc |
T |
A |
16: 15,591,477 (GRCm39) |
F2652I |
possibly damaging |
Het |
Prok1 |
A |
G |
3: 107,144,513 (GRCm39) |
I30T |
probably benign |
Het |
Prr9 |
T |
G |
3: 92,030,356 (GRCm39) |
T95P |
possibly damaging |
Het |
Ptgds |
A |
G |
2: 25,359,669 (GRCm39) |
M6T |
unknown |
Het |
Rnaseh2b |
T |
A |
14: 62,607,938 (GRCm39) |
D250E |
probably benign |
Het |
Rundc1 |
C |
T |
11: 101,324,383 (GRCm39) |
T363M |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,683,821 (GRCm39) |
H3081L |
possibly damaging |
Het |
Setmar |
T |
C |
6: 108,053,124 (GRCm39) |
I206T |
probably benign |
Het |
Skic8 |
A |
T |
9: 54,635,539 (GRCm39) |
S21T |
probably benign |
Het |
Slitrk6 |
A |
G |
14: 110,989,453 (GRCm39) |
S85P |
possibly damaging |
Het |
Spi1 |
A |
G |
2: 90,943,650 (GRCm39) |
N65D |
probably benign |
Het |
Stx1b |
A |
T |
7: 127,406,945 (GRCm39) |
|
probably benign |
Het |
Trav5-4 |
G |
A |
14: 53,941,750 (GRCm39) |
S41N |
probably benign |
Het |
Tspan14 |
T |
C |
14: 40,630,049 (GRCm39) |
D260G |
probably benign |
Het |
Ube4a |
T |
C |
9: 44,852,527 (GRCm39) |
D645G |
possibly damaging |
Het |
Ush2a |
C |
T |
1: 188,275,062 (GRCm39) |
T1845I |
probably benign |
Het |
Vps18 |
T |
C |
2: 119,127,973 (GRCm39) |
L932P |
probably damaging |
Het |
Zfp62 |
T |
A |
11: 49,108,218 (GRCm39) |
C770S |
probably damaging |
Het |
Zfp672 |
T |
C |
11: 58,207,628 (GRCm39) |
K231R |
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 |
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 |
|
|
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'- TGAGGTTCTCCGTAAACTGGAG -3'
(R):5'- GCTTGACTAGAAATTGCCACAAG -3'
Sequencing Primer
(F):5'- ATAGTCATACTGCCAAGTTGGG -3'
(R):5'- GACTAGAAATTGCCACAAGAGTTC -3'
|
Posted On |
2020-10-20 |