Incidental Mutation 'R1444:Epb41'
ID |
158705 |
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 |
039499-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1444 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
131650724-131802632 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 131733382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 176
(S176L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101595
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030739]
[ENSMUST00000054917]
[ENSMUST00000084253]
[ENSMUST00000105970]
[ENSMUST00000105972]
[ENSMUST00000105974]
[ENSMUST00000105975]
[ENSMUST00000141291]
[ENSMUST00000137846]
[ENSMUST00000105981]
|
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
AA Change: S176L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101595 Gene: ENSMUSG00000028906 AA Change: S176L
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 |
noncoding transcript
Transcript: ENSMUST00000131953
|
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: 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: 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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.1%
|
Validation Efficiency |
98% (59/60) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
T |
8: 73,205,230 (GRCm39) |
D347V |
probably damaging |
Het |
A630010A05Rik |
T |
A |
16: 14,427,558 (GRCm39) |
F82I |
possibly damaging |
Het |
Acad9 |
T |
A |
3: 36,132,657 (GRCm39) |
F297L |
possibly damaging |
Het |
Adgrl3 |
A |
T |
5: 81,660,200 (GRCm39) |
Y323F |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,465,915 (GRCm39) |
M1893K |
probably benign |
Het |
Cactin |
A |
T |
10: 81,158,270 (GRCm39) |
|
probably null |
Het |
Cadm4 |
A |
G |
7: 24,203,046 (GRCm39) |
*389W |
probably null |
Het |
Calr4 |
A |
G |
4: 109,103,438 (GRCm39) |
T183A |
possibly damaging |
Het |
Card10 |
A |
T |
15: 78,672,041 (GRCm39) |
|
probably benign |
Het |
Cdh6 |
C |
A |
15: 13,091,924 (GRCm39) |
G14C |
probably benign |
Het |
Cds1 |
A |
G |
5: 101,946,245 (GRCm39) |
Y148C |
probably damaging |
Het |
Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
Cr1l |
A |
T |
1: 194,813,510 (GRCm39) |
L35Q |
probably damaging |
Het |
Daam2 |
T |
C |
17: 49,787,779 (GRCm39) |
R445G |
possibly damaging |
Het |
Ddn |
G |
A |
15: 98,704,485 (GRCm39) |
T269M |
probably damaging |
Het |
Ephx2 |
T |
C |
14: 66,344,769 (GRCm39) |
D167G |
probably damaging |
Het |
Erbb4 |
G |
A |
1: 68,293,759 (GRCm39) |
R711C |
probably damaging |
Het |
Flg2 |
T |
A |
3: 93,109,620 (GRCm39) |
H549Q |
unknown |
Het |
Gje1 |
A |
G |
10: 14,592,380 (GRCm39) |
|
probably null |
Het |
Heatr5b |
G |
A |
17: 79,060,622 (GRCm39) |
H2018Y |
probably benign |
Het |
Heatr5b |
A |
T |
17: 79,062,856 (GRCm39) |
|
probably benign |
Het |
Hectd3 |
G |
T |
4: 116,853,593 (GRCm39) |
R189L |
probably benign |
Het |
Hsd3b6 |
T |
C |
3: 98,715,237 (GRCm39) |
T52A |
probably benign |
Het |
Il10rb |
T |
G |
16: 91,218,675 (GRCm39) |
|
probably null |
Het |
Kcnc2 |
T |
C |
10: 112,291,506 (GRCm39) |
|
probably benign |
Het |
Lpl |
T |
A |
8: 69,345,399 (GRCm39) |
D134E |
probably damaging |
Het |
Lrit1 |
T |
C |
14: 36,783,928 (GRCm39) |
F419L |
probably benign |
Het |
Mmp8 |
T |
C |
9: 7,567,264 (GRCm39) |
C422R |
probably benign |
Het |
Myo18b |
A |
G |
5: 112,923,117 (GRCm39) |
|
probably null |
Het |
Ncor1 |
T |
A |
11: 62,294,632 (GRCm39) |
I280F |
probably damaging |
Het |
Obox2 |
A |
C |
7: 15,130,957 (GRCm39) |
Q63P |
possibly damaging |
Het |
Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
Or4d2b |
T |
A |
11: 87,780,585 (GRCm39) |
I46L |
probably benign |
Het |
Phldb2 |
T |
A |
16: 45,577,616 (GRCm39) |
|
probably benign |
Het |
Pkd1l1 |
A |
G |
11: 8,804,386 (GRCm39) |
F1735S |
probably damaging |
Het |
Pramel11 |
G |
T |
4: 143,623,461 (GRCm39) |
L238I |
probably benign |
Het |
Prss30 |
T |
C |
17: 24,192,712 (GRCm39) |
Y156C |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,333,226 (GRCm39) |
S2812P |
probably damaging |
Het |
Rttn |
A |
G |
18: 89,060,991 (GRCm39) |
D1053G |
probably benign |
Het |
Slc6a2 |
A |
G |
8: 93,697,882 (GRCm39) |
N120S |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,070,158 (GRCm39) |
|
probably benign |
Het |
Spindoc |
G |
T |
19: 7,360,086 (GRCm39) |
D27E |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,115,754 (GRCm39) |
T980A |
possibly damaging |
Het |
Tgfbr1 |
A |
G |
4: 47,393,259 (GRCm39) |
E46G |
probably benign |
Het |
Tmem183a |
T |
C |
1: 134,289,284 (GRCm39) |
I49V |
probably benign |
Het |
Tmem212 |
C |
T |
3: 27,939,244 (GRCm39) |
V81I |
possibly damaging |
Het |
Toporsl |
T |
A |
4: 52,610,254 (GRCm39) |
I49N |
probably benign |
Het |
Trim67 |
A |
G |
8: 125,549,932 (GRCm39) |
T521A |
probably benign |
Het |
Vsnl1 |
T |
C |
12: 11,382,219 (GRCm39) |
|
probably null |
Het |
Wdr87-ps |
T |
C |
7: 29,229,380 (GRCm39) |
|
noncoding transcript |
Het |
Xrn2 |
C |
T |
2: 146,903,408 (GRCm39) |
R803W |
probably damaging |
Het |
Zfp131 |
A |
T |
13: 120,251,784 (GRCm39) |
C9S |
probably damaging |
Het |
Zfp750 |
C |
T |
11: 121,402,873 (GRCm39) |
S625N |
probably damaging |
Het |
Zfp871 |
G |
T |
17: 32,993,900 (GRCm39) |
T406N |
possibly 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 |
|
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 |
|
|
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'- ACCCTAAAGTTGGTCTTTGGCACTC -3'
(R):5'- ATCAGCCAGTATGGCCCTTCAATG -3'
Sequencing Primer
(F):5'- GGTCTTTGGCACTCTGAATATAC -3'
(R):5'- tgctgttacctgatgagcc -3'
|
Posted On |
2014-03-14 |