Incidental Mutation 'R7322:Epb41l1'
| ID |
568199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epb41l1
|
| Ensembl Gene |
ENSMUSG00000027624 |
| Gene Name |
erythrocyte membrane protein band 4.1 like 1 |
| Synonyms |
4.1N, Epb4.1l1 |
| MMRRC Submission |
045417-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7322 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
156262829-156385134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156345771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 258
(H258L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029155]
[ENSMUST00000103136]
[ENSMUST00000103137]
[ENSMUST00000109574]
[ENSMUST00000109577]
[ENSMUST00000125153]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029155
AA Change: H258L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029155
Gene: ENSMUSG00000027624
AA Change: H258L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
B41
|
93 |
288 |
6.19e-78 |
SMART |
|
FERM_C
|
292 |
382 |
2.47e-39 |
SMART |
|
FA
|
384 |
430 |
1.9e-17 |
SMART |
|
low complexity region
|
459 |
472 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
493 |
544 |
8.4e-25 |
PFAM |
|
low complexity region
|
606 |
615 |
N/A |
INTRINSIC |
|
Pfam:4_1_CTD
|
770 |
867 |
5.9e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103136
AA Change: H258L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099425
Gene: ENSMUSG00000027624
AA Change: H258L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
B41
|
93 |
288 |
6.19e-78 |
SMART |
|
FERM_C
|
292 |
382 |
2.47e-39 |
SMART |
|
FA
|
384 |
430 |
1.9e-17 |
SMART |
|
low complexity region
|
459 |
472 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
493 |
544 |
8.4e-25 |
PFAM |
|
low complexity region
|
606 |
615 |
N/A |
INTRINSIC |
|
Pfam:4_1_CTD
|
770 |
867 |
5.9e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103137
AA Change: H258L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099426
Gene: ENSMUSG00000027624
AA Change: H258L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
B41
|
93 |
288 |
6.19e-78 |
SMART |
|
FERM_C
|
292 |
382 |
2.47e-39 |
SMART |
|
FA
|
384 |
430 |
1.9e-17 |
SMART |
|
low complexity region
|
459 |
472 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
493 |
544 |
5.9e-25 |
PFAM |
|
low complexity region
|
606 |
615 |
N/A |
INTRINSIC |
|
Pfam:4_1_CTD
|
740 |
866 |
1.6e-34 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109574
AA Change: H258L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105202
Gene: ENSMUSG00000027624
AA Change: H258L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
B41
|
93 |
288 |
6.19e-78 |
SMART |
|
FERM_C
|
292 |
382 |
2.47e-39 |
SMART |
|
FA
|
384 |
430 |
1.9e-17 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
480 |
531 |
4.8e-24 |
PFAM |
|
Pfam:4_1_CTD
|
610 |
718 |
4.9e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109577
AA Change: H258L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105205
Gene: ENSMUSG00000027624
AA Change: H258L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
B41
|
93 |
288 |
6.19e-78 |
SMART |
|
FERM_C
|
292 |
382 |
2.47e-39 |
SMART |
|
FA
|
384 |
430 |
1.9e-17 |
SMART |
|
low complexity region
|
459 |
472 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
481 |
532 |
5.9e-24 |
PFAM |
|
low complexity region
|
594 |
603 |
N/A |
INTRINSIC |
|
Pfam:4_1_CTD
|
758 |
855 |
5.8e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125153
AA Change: H258L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121161
Gene: ENSMUSG00000027624
AA Change: H258L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
B41
|
93 |
288 |
6.19e-78 |
SMART |
|
FERM_C
|
292 |
382 |
2.47e-39 |
SMART |
|
FA
|
384 |
430 |
1.9e-17 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
492 |
543 |
7.4e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144013
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit no obvious phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,067,151 (GRCm39) |
V1352D |
probably damaging |
Het |
| Adam33 |
C |
T |
2: 130,895,614 (GRCm39) |
C567Y |
probably damaging |
Het |
| Alppl2 |
C |
A |
1: 87,015,184 (GRCm39) |
G422C |
probably benign |
Het |
| Ang |
T |
A |
14: 51,338,868 (GRCm39) |
I3K |
unknown |
Het |
| Ankrd10 |
A |
T |
8: 11,665,841 (GRCm39) |
V253E |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,527,004 (GRCm39) |
I806V |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,103,374 (GRCm39) |
L586P |
probably damaging |
Het |
| Bdkrb1 |
T |
C |
12: 105,570,563 (GRCm39) |
V43A |
possibly damaging |
Het |
| Brinp3 |
C |
T |
1: 146,558,426 (GRCm39) |
R117* |
probably null |
Het |
| Brwd1 |
A |
T |
16: 95,867,319 (GRCm39) |
M172K |
probably damaging |
Het |
| Bsn |
G |
A |
9: 108,003,620 (GRCm39) |
R262* |
probably null |
Het |
| Bst2 |
A |
C |
8: 71,989,851 (GRCm39) |
L74R |
probably damaging |
Het |
| C1qa |
T |
C |
4: 136,623,465 (GRCm39) |
*246W |
probably null |
Het |
| Cadm2 |
G |
A |
16: 66,679,734 (GRCm39) |
T42M |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,299,125 (GRCm39) |
T34A |
probably benign |
Het |
| Ccdc178 |
G |
A |
18: 22,238,606 (GRCm39) |
T337M |
probably benign |
Het |
| Ccl8 |
T |
C |
11: 82,007,408 (GRCm39) |
V81A |
probably damaging |
Het |
| Dgcr6 |
A |
G |
16: 17,888,771 (GRCm39) |
T69A |
unknown |
Het |
| Dnah10 |
A |
G |
5: 124,898,333 (GRCm39) |
D3762G |
probably benign |
Het |
| Eif3d |
T |
C |
15: 77,845,876 (GRCm39) |
T382A |
probably benign |
Het |
| Epb41 |
A |
T |
4: 131,717,030 (GRCm39) |
Y375N |
probably damaging |
Het |
| Fbn1 |
A |
C |
2: 125,321,115 (GRCm39) |
I81S |
possibly damaging |
Het |
| Fzd5 |
A |
G |
1: 64,774,487 (GRCm39) |
S425P |
probably damaging |
Het |
| Gfra2 |
T |
A |
14: 71,205,831 (GRCm39) |
V398D |
probably benign |
Het |
| Gm3755 |
A |
G |
14: 18,620,904 (GRCm39) |
L130P |
|
Het |
| Grin3b |
A |
G |
10: 79,811,529 (GRCm39) |
Y705C |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,349,093 (GRCm39) |
D4944G |
probably damaging |
Het |
| Hoxd11 |
T |
C |
2: 74,514,355 (GRCm39) |
L295P |
probably damaging |
Het |
| Ighv1-81 |
C |
A |
12: 115,884,287 (GRCm39) |
G16C |
possibly damaging |
Het |
| Kcna5 |
T |
C |
6: 126,510,754 (GRCm39) |
D458G |
possibly damaging |
Het |
| Klb |
A |
T |
5: 65,540,707 (GRCm39) |
E933D |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,381,433 (GRCm39) |
M3855K |
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,489,833 (GRCm39) |
L533I |
probably damaging |
Het |
| Mrps6 |
C |
A |
16: 91,855,335 (GRCm39) |
Y4* |
probably null |
Het |
| Nabp1 |
A |
T |
1: 51,512,229 (GRCm39) |
V105E |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,435,896 (GRCm39) |
N876Y |
possibly damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,311,644 (GRCm39) |
S944G |
possibly damaging |
Het |
| Nr4a3 |
A |
T |
4: 48,083,238 (GRCm39) |
E590D |
probably benign |
Het |
| Or10h5 |
A |
G |
17: 33,434,673 (GRCm39) |
I215T |
probably damaging |
Het |
| Or1b1 |
T |
C |
2: 36,995,603 (GRCm39) |
R20G |
probably null |
Het |
| Or52ab2 |
T |
A |
7: 102,970,494 (GRCm39) |
V292E |
|
Het |
| Or5j1 |
A |
T |
2: 86,878,823 (GRCm39) |
Y252* |
probably null |
Het |
| Or8k22 |
C |
T |
2: 86,162,908 (GRCm39) |
S264N |
probably benign |
Het |
| Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,437,248 (GRCm39) |
D451G |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,129 (GRCm39) |
S142P |
probably benign |
Het |
| Postn |
T |
C |
3: 54,277,701 (GRCm39) |
L232P |
probably damaging |
Het |
| Prss8 |
T |
C |
7: 127,528,735 (GRCm39) |
T33A |
probably benign |
Het |
| Ptgr3 |
A |
G |
18: 84,113,260 (GRCm39) |
Y312C |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,053,130 (GRCm39) |
M1K |
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,645,857 (GRCm39) |
N161S |
possibly damaging |
Het |
| Riox1 |
G |
A |
12: 83,997,442 (GRCm39) |
|
probably benign |
Het |
| Rmdn2 |
A |
T |
17: 79,929,040 (GRCm39) |
K97N |
probably damaging |
Het |
| Sgo1 |
A |
G |
17: 53,984,085 (GRCm39) |
L431P |
probably damaging |
Het |
| Slc9a8 |
T |
A |
2: 167,293,222 (GRCm39) |
V217E |
probably damaging |
Het |
| Slco2b1 |
C |
T |
7: 99,341,055 (GRCm39) |
G21D |
not run |
Het |
| Spata31d1d |
C |
A |
13: 59,874,790 (GRCm39) |
R915L |
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,805,104 (GRCm39) |
N152K |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,030,798 (GRCm39) |
I3634N |
probably damaging |
Het |
| Tnfrsf9 |
A |
G |
4: 151,018,794 (GRCm39) |
D155G |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,770,731 (GRCm39) |
D840E |
probably benign |
Het |
| Tyk2 |
G |
A |
9: 21,021,500 (GRCm39) |
S902L |
probably benign |
Het |
| Unc119 |
T |
C |
11: 78,239,449 (GRCm39) |
S235P |
probably damaging |
Het |
| Vav1 |
A |
C |
17: 57,609,266 (GRCm39) |
D394A |
probably benign |
Het |
| Vezf1 |
T |
A |
11: 87,972,410 (GRCm39) |
I439K |
possibly damaging |
Het |
| Zfp335 |
A |
T |
2: 164,752,741 (GRCm39) |
M1K |
probably null |
Het |
| Zfp715 |
T |
C |
7: 42,960,562 (GRCm39) |
T10A |
possibly damaging |
Het |
| Zmynd11 |
C |
T |
13: 9,740,445 (GRCm39) |
E382K |
possibly damaging |
Het |
|
| Other mutations in Epb41l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00792:Epb41l1
|
APN |
2 |
156,366,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00852:Epb41l1
|
APN |
2 |
156,345,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02148:Epb41l1
|
APN |
2 |
156,353,748 (GRCm39) |
intron |
probably benign |
|
|
IGL02164:Epb41l1
|
APN |
2 |
156,336,869 (GRCm39) |
splice site |
probably benign |
|
|
IGL02515:Epb41l1
|
APN |
2 |
156,378,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0787:Epb41l1
|
UTSW |
2 |
156,336,010 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1450:Epb41l1
|
UTSW |
2 |
156,353,745 (GRCm39) |
intron |
probably benign |
|
|
R1566:Epb41l1
|
UTSW |
2 |
156,363,879 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1759:Epb41l1
|
UTSW |
2 |
156,363,894 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1812:Epb41l1
|
UTSW |
2 |
156,338,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Epb41l1
|
UTSW |
2 |
156,352,737 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2152:Epb41l1
|
UTSW |
2 |
156,356,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3023:Epb41l1
|
UTSW |
2 |
156,356,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4178:Epb41l1
|
UTSW |
2 |
156,363,477 (GRCm39) |
missense |
probably benign |
|
|
R4491:Epb41l1
|
UTSW |
2 |
156,364,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4610:Epb41l1
|
UTSW |
2 |
156,351,181 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4770:Epb41l1
|
UTSW |
2 |
156,371,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5038:Epb41l1
|
UTSW |
2 |
156,363,330 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5049:Epb41l1
|
UTSW |
2 |
156,366,859 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5129:Epb41l1
|
UTSW |
2 |
156,351,201 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5624:Epb41l1
|
UTSW |
2 |
156,375,691 (GRCm39) |
splice site |
probably benign |
|
|
R5780:Epb41l1
|
UTSW |
2 |
156,338,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5810:Epb41l1
|
UTSW |
2 |
156,341,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5952:Epb41l1
|
UTSW |
2 |
156,366,903 (GRCm39) |
missense |
probably benign |
|
|
R5952:Epb41l1
|
UTSW |
2 |
156,345,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5961:Epb41l1
|
UTSW |
2 |
156,363,706 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6118:Epb41l1
|
UTSW |
2 |
156,364,397 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6496:Epb41l1
|
UTSW |
2 |
156,375,716 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6861:Epb41l1
|
UTSW |
2 |
156,367,142 (GRCm39) |
missense |
probably benign |
|
|
R6959:Epb41l1
|
UTSW |
2 |
156,341,507 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7009:Epb41l1
|
UTSW |
2 |
156,376,603 (GRCm39) |
splice site |
probably null |
|
|
R7036:Epb41l1
|
UTSW |
2 |
156,371,322 (GRCm39) |
missense |
probably benign |
|
|
R7046:Epb41l1
|
UTSW |
2 |
156,368,812 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7263:Epb41l1
|
UTSW |
2 |
156,337,043 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7398:Epb41l1
|
UTSW |
2 |
156,376,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7914:Epb41l1
|
UTSW |
2 |
156,364,128 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8039:Epb41l1
|
UTSW |
2 |
156,348,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8357:Epb41l1
|
UTSW |
2 |
156,367,171 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8415:Epb41l1
|
UTSW |
2 |
156,368,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8457:Epb41l1
|
UTSW |
2 |
156,367,171 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8458:Epb41l1
|
UTSW |
2 |
156,363,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8475:Epb41l1
|
UTSW |
2 |
156,364,150 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8790:Epb41l1
|
UTSW |
2 |
156,345,722 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8851:Epb41l1
|
UTSW |
2 |
156,364,431 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8898:Epb41l1
|
UTSW |
2 |
156,335,869 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8955:Epb41l1
|
UTSW |
2 |
156,363,923 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8988:Epb41l1
|
UTSW |
2 |
156,363,591 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9060:Epb41l1
|
UTSW |
2 |
156,345,679 (GRCm39) |
nonsense |
probably null |
|
|
R9121:Epb41l1
|
UTSW |
2 |
156,364,487 (GRCm39) |
missense |
probably benign |
|
|
R9602:Epb41l1
|
UTSW |
2 |
156,367,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9644:Epb41l1
|
UTSW |
2 |
156,367,165 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9690:Epb41l1
|
UTSW |
2 |
156,356,038 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0065:Epb41l1
|
UTSW |
2 |
156,351,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Epb41l1
|
UTSW |
2 |
156,350,747 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACATTATCACAGGCCGCC -3'
(R):5'- AGCCACCATTGTCATATCTCCG -3'
Sequencing Primer
(F):5'- CTGCCTTGCTCCTTTGTCACG -3'
(R):5'- CCATTGTCATATCTCCGAGTAACAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation