Incidental Mutation 'R6496:Epb41l1'
| ID |
522997 |
| 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 |
044628-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156262829-156385134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156375716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 611
(S611P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029155]
[ENSMUST00000103135]
[ENSMUST00000103136]
[ENSMUST00000103137]
[ENSMUST00000109572]
[ENSMUST00000109574]
[ENSMUST00000109577]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029155
AA Change: S760P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000029155
Gene: ENSMUSG00000027624
AA Change: S760P
| 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 benign
Transcript: ENSMUST00000103135
AA Change: S760P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099424
Gene: ENSMUSG00000027624
AA Change: S760P
| 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 benign
Transcript: ENSMUST00000103136
AA Change: S760P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099425
Gene: ENSMUSG00000027624
AA Change: S760P
| 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 benign
Transcript: ENSMUST00000103137
AA Change: S760P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099426
Gene: ENSMUSG00000027624
AA Change: S760P
| 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 benign
Transcript: ENSMUST00000109572
AA Change: S512P
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000105200
Gene: ENSMUSG00000027624
AA Change: S512P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
B41
|
93 |
215 |
5.6e-12 |
SMART |
|
FERM_C
|
219 |
309 |
1.2e-43 |
SMART |
|
FA
|
311 |
357 |
9e-22 |
SMART |
|
low complexity region
|
386 |
399 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
408 |
459 |
2.2e-21 |
PFAM |
|
Pfam:4_1_CTD
|
514 |
619 |
1.3e-43 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109574
AA Change: S611P
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105202
Gene: ENSMUSG00000027624
AA Change: S611P
| 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 benign
Transcript: ENSMUST00000109577
AA Change: S748P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000105205
Gene: ENSMUSG00000027624
AA Change: S748P
| 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 |
noncoding transcript
Transcript: ENSMUST00000137067
|
| Meta Mutation Damage Score |
0.0681 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,545,217 (GRCm39) |
T79S |
probably benign |
Het |
| Atp2b1 |
T |
A |
10: 98,839,199 (GRCm39) |
C676S |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,371,003 (GRCm39) |
F1047L |
probably benign |
Het |
| B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
| Casp8ap2 |
A |
C |
4: 32,641,553 (GRCm39) |
H869P |
probably benign |
Het |
| Cdh26 |
G |
A |
2: 178,091,654 (GRCm39) |
G71D |
probably damaging |
Het |
| Col4a2 |
G |
T |
8: 11,452,993 (GRCm39) |
G187* |
probably null |
Het |
| Col4a2 |
G |
T |
8: 11,452,994 (GRCm39) |
G187V |
probably damaging |
Het |
| Dsn1 |
A |
G |
2: 156,847,187 (GRCm39) |
S84P |
probably damaging |
Het |
| Edaradd |
T |
A |
13: 12,493,323 (GRCm39) |
D123V |
probably damaging |
Het |
| Fam217a |
G |
A |
13: 35,094,785 (GRCm39) |
R234* |
probably null |
Het |
| Gm17175 |
A |
G |
14: 51,810,534 (GRCm39) |
I31T |
probably benign |
Het |
| Jtb |
T |
C |
3: 90,141,264 (GRCm39) |
V80A |
possibly damaging |
Het |
| Kera |
T |
A |
10: 97,448,672 (GRCm39) |
N297K |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,477,652 (GRCm39) |
N472S |
probably benign |
Het |
| Lgmn |
T |
C |
12: 102,364,498 (GRCm39) |
T324A |
probably benign |
Het |
| Ndst3 |
A |
G |
3: 123,346,201 (GRCm39) |
I276T |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,000,857 (GRCm39) |
K125E |
probably damaging |
Het |
| Or10ag59 |
A |
C |
2: 87,405,460 (GRCm39) |
N11H |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,853,448 (GRCm39) |
S73T |
probably benign |
Het |
| Patj |
C |
A |
4: 98,304,989 (GRCm39) |
A281E |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,638 (GRCm39) |
E221G |
possibly damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,709 (GRCm39) |
F605S |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,258,789 (GRCm39) |
K698R |
probably null |
Het |
| Potefam1 |
T |
A |
2: 110,994,817 (GRCm39) |
H232L |
unknown |
Het |
| Psd |
G |
A |
19: 46,308,753 (GRCm39) |
R628C |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,176,633 (GRCm39) |
N1211S |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,679,065 (GRCm39) |
M177L |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,550,495 (GRCm39) |
S183P |
probably benign |
Het |
| Spata22 |
G |
A |
11: 73,231,189 (GRCm39) |
G148R |
probably damaging |
Het |
| Spata31f1a |
G |
T |
4: 42,848,424 (GRCm39) |
T1244K |
probably damaging |
Het |
| Tfap2a |
T |
C |
13: 40,882,251 (GRCm39) |
D18G |
probably damaging |
Het |
| Thoc7 |
T |
C |
14: 13,954,593 (GRCm38) |
N28S |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,700,858 (GRCm39) |
Y1055C |
probably damaging |
Het |
| Zfp874a |
A |
G |
13: 67,590,694 (GRCm39) |
V330A |
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 |
|
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 |
|
|
R7322:Epb41l1
|
UTSW |
2 |
156,345,771 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- AGTGGGGATCCAGTATATCTTTGTC -3'
(R):5'- CTGCAAATGGTTCTGAGCCC -3'
Sequencing Primer
(F):5'- CAAGCATGCAAGTGTGTGTC -3'
(R):5'- AAATGGTTCTGAGCCCCTGACTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation