Incidental Mutation 'R5229:Epb41'
ID |
403645 |
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 |
042802-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5229 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
131650724-131802632 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 131706246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 415
(G415C)
|
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 damaging
Transcript: ENSMUST00000030739
AA Change: G415C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030739 Gene: ENSMUSG00000028906 AA Change: G415C
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: G415C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060375 Gene: ENSMUSG00000028906 AA Change: G415C
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: G415C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081274 Gene: ENSMUSG00000028906 AA Change: G415C
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: G263C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101590 Gene: ENSMUSG00000028906 AA Change: G263C
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: G415C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101592 Gene: ENSMUSG00000028906 AA Change: G415C
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: G380C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101594 Gene: ENSMUSG00000028906 AA Change: G380C
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: ENSMUST00000141291
AA Change: G415C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120236 Gene: ENSMUSG00000028906 AA Change: G415C
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 damaging
Transcript: ENSMUST00000105975
AA Change: G440C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101595 Gene: ENSMUSG00000028906 AA Change: G440C
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: G415C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101601 Gene: ENSMUSG00000028906 AA Change: G415C
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: G257C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123623 Gene: ENSMUSG00000028906 AA Change: G257C
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 |
noncoding transcript
Transcript: ENSMUST00000144754
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146021
|
Predicted Effect |
unknown
Transcript: ENSMUST00000212761
AA Change: G137C
|
Meta Mutation Damage Score |
0.9743 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (62/63) |
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 |
4930444P10Rik |
T |
C |
1: 16,151,183 (GRCm39) |
|
probably benign |
Het |
4930562C15Rik |
A |
G |
16: 4,667,915 (GRCm39) |
I435M |
possibly damaging |
Het |
Adcy5 |
A |
G |
16: 35,089,440 (GRCm39) |
I546V |
probably damaging |
Het |
Apob |
A |
G |
12: 8,027,806 (GRCm39) |
T10A |
probably benign |
Het |
Brwd1 |
C |
A |
16: 95,803,409 (GRCm39) |
D2254Y |
possibly damaging |
Het |
Bub1b |
C |
A |
2: 118,460,470 (GRCm39) |
D600E |
probably damaging |
Het |
Cnga1 |
A |
G |
5: 72,766,843 (GRCm39) |
S199P |
probably damaging |
Het |
Cyp3a11 |
G |
T |
5: 145,791,945 (GRCm39) |
L483I |
probably benign |
Het |
Depp1 |
T |
C |
6: 116,628,992 (GRCm39) |
S112P |
possibly damaging |
Het |
Dpysl3 |
C |
A |
18: 43,466,016 (GRCm39) |
G457V |
probably damaging |
Het |
Eif4g3 |
C |
A |
4: 137,824,105 (GRCm39) |
P36T |
possibly damaging |
Het |
Erap1 |
G |
A |
13: 74,808,494 (GRCm39) |
V69M |
possibly damaging |
Het |
F2 |
A |
T |
2: 91,460,586 (GRCm39) |
Y301* |
probably null |
Het |
F2rl2 |
A |
T |
13: 95,837,195 (GRCm39) |
N80I |
possibly damaging |
Het |
Fam237b |
A |
T |
5: 5,625,565 (GRCm39) |
Y87F |
possibly damaging |
Het |
Gm15446 |
T |
G |
5: 110,091,036 (GRCm39) |
H429Q |
probably damaging |
Het |
Gpat3 |
G |
A |
5: 101,031,290 (GRCm39) |
G148D |
probably damaging |
Het |
Gpr26 |
A |
T |
7: 131,585,976 (GRCm39) |
R315S |
probably damaging |
Het |
Hdac9 |
A |
C |
12: 34,487,163 (GRCm39) |
H100Q |
probably damaging |
Het |
Heatr5a |
A |
T |
12: 51,994,761 (GRCm39) |
V457D |
probably benign |
Het |
Igkv10-96 |
A |
G |
6: 68,609,223 (GRCm39) |
M24T |
possibly damaging |
Het |
Igkv2-95-2 |
A |
G |
6: 68,625,095 (GRCm39) |
|
noncoding transcript |
Het |
Kdm4a |
G |
A |
4: 118,003,802 (GRCm39) |
S758F |
probably damaging |
Het |
Lrg1 |
A |
G |
17: 56,427,154 (GRCm39) |
W273R |
probably damaging |
Het |
Man2a1 |
A |
T |
17: 65,017,729 (GRCm39) |
Q658H |
probably benign |
Het |
Mapkapk5 |
T |
C |
5: 121,671,454 (GRCm39) |
|
probably null |
Het |
Mcm6 |
T |
C |
1: 128,261,321 (GRCm39) |
D761G |
possibly damaging |
Het |
Myh8 |
A |
T |
11: 67,175,310 (GRCm39) |
Y286F |
probably damaging |
Het |
Nbn |
C |
T |
4: 15,963,893 (GRCm39) |
T98I |
probably damaging |
Het |
Nrdc |
T |
C |
4: 108,906,305 (GRCm39) |
S685P |
probably damaging |
Het |
Nudcd3 |
A |
G |
11: 6,143,238 (GRCm39) |
V80A |
probably benign |
Het |
Or10al5 |
A |
G |
17: 38,063,192 (GRCm39) |
H149R |
probably benign |
Het |
Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
Pdcd6ip |
A |
T |
9: 113,507,401 (GRCm39) |
M390K |
probably damaging |
Het |
Pon1 |
C |
T |
6: 5,177,295 (GRCm39) |
V205I |
possibly damaging |
Het |
Ppp4r2 |
C |
A |
6: 100,842,176 (GRCm39) |
H212Q |
probably benign |
Het |
Pramel32 |
T |
C |
4: 88,548,372 (GRCm39) |
D11G |
possibly damaging |
Het |
Prl2c5 |
G |
A |
13: 13,360,441 (GRCm39) |
C33Y |
probably damaging |
Het |
Rbak |
A |
G |
5: 143,159,917 (GRCm39) |
F379L |
probably damaging |
Het |
Rcc2 |
G |
A |
4: 140,444,340 (GRCm39) |
D344N |
probably damaging |
Het |
Rgs3 |
T |
C |
4: 62,620,424 (GRCm39) |
L550P |
probably damaging |
Het |
Rnasek |
A |
T |
11: 70,130,486 (GRCm39) |
M25K |
probably damaging |
Het |
Scgb1b24 |
A |
T |
7: 33,443,520 (GRCm39) |
T60S |
possibly damaging |
Het |
Scn5a |
A |
G |
9: 119,365,042 (GRCm39) |
F392S |
probably damaging |
Het |
Scpep1 |
A |
T |
11: 88,827,871 (GRCm39) |
V209E |
probably damaging |
Het |
Slc35g1 |
A |
G |
19: 38,391,080 (GRCm39) |
|
probably null |
Het |
Sorbs1 |
A |
G |
19: 40,329,151 (GRCm39) |
I554T |
probably damaging |
Het |
Spats1 |
A |
G |
17: 45,777,059 (GRCm39) |
|
probably benign |
Het |
Tdp1 |
A |
G |
12: 99,859,919 (GRCm39) |
Q202R |
probably damaging |
Het |
Trav6-5 |
T |
G |
14: 53,729,045 (GRCm39) |
S102A |
probably damaging |
Het |
Tspan2 |
T |
C |
3: 102,676,215 (GRCm39) |
M208T |
probably damaging |
Het |
Ube4b |
A |
G |
4: 149,471,635 (GRCm39) |
S84P |
probably damaging |
Het |
Vmn1r237 |
C |
A |
17: 21,534,633 (GRCm39) |
Q119K |
probably benign |
Het |
Vmn2r125 |
C |
T |
4: 156,703,333 (GRCm39) |
T237I |
probably benign |
Het |
Zfp65 |
A |
T |
13: 67,856,929 (GRCm39) |
S117T |
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 |
|
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'- GTCTCCCAAGTGCTAGGATTAG -3'
(R):5'- TCTGACTTAGACAGCATGCC -3'
Sequencing Primer
(F):5'- GTCCGGAGATTACAAGCATTTGC -3'
(R):5'- CTTAGACAGCATGCCAGTGG -3'
|
Posted On |
2016-07-22 |