Incidental Mutation 'R5368:Epb42'
ID |
429460 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epb42
|
Ensembl Gene |
ENSMUSG00000023216 |
Gene Name |
erythrocyte membrane protein band 4.2 |
Synonyms |
Epb4.2 |
MMRRC Submission |
043204-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5368 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120848372-120867358 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 120849943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 689
(V689I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099548
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023987]
[ENSMUST00000060455]
[ENSMUST00000099488]
[ENSMUST00000099489]
[ENSMUST00000102490]
[ENSMUST00000171260]
|
AlphaFold |
P49222 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023987
|
SMART Domains |
Protein: ENSMUSP00000023987 Gene: ENSMUSG00000023216
Domain | Start | End | E-Value | Type |
Pfam:Transglut_N
|
5 |
126 |
8.9e-35 |
PFAM |
TGc
|
260 |
353 |
3.52e-27 |
SMART |
low complexity region
|
442 |
458 |
N/A |
INTRINSIC |
Pfam:Transglut_C
|
475 |
552 |
5.1e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000060455
|
SMART Domains |
Protein: ENSMUSP00000062496 Gene: ENSMUSG00000023572
Domain | Start | End | E-Value | Type |
Pfam:GCIP
|
50 |
318 |
4.2e-93 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099488
|
SMART Domains |
Protein: ENSMUSP00000097087 Gene: ENSMUSG00000023572
Domain | Start | End | E-Value | Type |
Pfam:GCIP
|
50 |
311 |
4.8e-90 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099489
|
SMART Domains |
Protein: ENSMUSP00000097088 Gene: ENSMUSG00000023572
Domain | Start | End | E-Value | Type |
Pfam:GCIP
|
3 |
271 |
3.7e-93 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102490
AA Change: V689I
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000099548 Gene: ENSMUSG00000023216 AA Change: V689I
Domain | Start | End | E-Value | Type |
Pfam:Transglut_N
|
6 |
124 |
5.8e-34 |
PFAM |
TGc
|
260 |
353 |
3.52e-27 |
SMART |
low complexity region
|
442 |
458 |
N/A |
INTRINSIC |
Pfam:Transglut_C
|
475 |
580 |
8e-23 |
PFAM |
Pfam:Transglut_C
|
588 |
686 |
8.8e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124703
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147444
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171260
|
SMART Domains |
Protein: ENSMUSP00000125961 Gene: ENSMUSG00000023572
Domain | Start | End | E-Value | Type |
Pfam:GCIP
|
52 |
309 |
4.7e-74 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (61/63) |
MGI Phenotype |
FUNCTION: The protein encoded by this gene is the key component of a macromolecular complex involved in the structure of erythrocytes. [provided by RefSeq, Aug 2015] PHENOTYPE: Homozygotes for a targeted null mutation exhibit erythrocytic abnormalities including mild spherocytosis, altered ion transport, and dehydration. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
A |
7: 130,740,925 (GRCm39) |
H97L |
possibly damaging |
Het |
Abca9 |
T |
A |
11: 110,036,372 (GRCm39) |
N579I |
probably damaging |
Het |
Acbd3 |
A |
T |
1: 180,549,660 (GRCm39) |
|
probably benign |
Het |
Ankrd50 |
A |
T |
3: 38,509,199 (GRCm39) |
I1056N |
probably damaging |
Het |
Ceacam18 |
T |
C |
7: 43,291,458 (GRCm39) |
V300A |
probably benign |
Het |
Cfap46 |
C |
A |
7: 139,207,389 (GRCm39) |
R1843S |
possibly damaging |
Het |
D430041D05Rik |
A |
G |
2: 104,078,629 (GRCm39) |
V1229A |
probably damaging |
Het |
Dbx2 |
G |
A |
15: 95,538,522 (GRCm39) |
S206L |
probably benign |
Het |
Dnah11 |
A |
T |
12: 117,918,628 (GRCm39) |
D1530E |
probably damaging |
Het |
Ecm2 |
A |
C |
13: 49,674,419 (GRCm39) |
T280P |
probably benign |
Het |
Emc2 |
G |
A |
15: 43,375,207 (GRCm39) |
|
probably null |
Het |
Fam114a1 |
T |
A |
5: 65,163,452 (GRCm39) |
M209K |
possibly damaging |
Het |
Fam117a |
C |
T |
11: 95,266,459 (GRCm39) |
S193F |
probably damaging |
Het |
Foxp2 |
A |
T |
6: 15,377,913 (GRCm39) |
|
probably benign |
Het |
Frmd6 |
T |
A |
12: 70,910,874 (GRCm39) |
C19* |
probably null |
Het |
Fyb1 |
A |
G |
15: 6,610,159 (GRCm39) |
|
probably null |
Het |
Gata6 |
C |
A |
18: 11,063,059 (GRCm39) |
H442Q |
possibly damaging |
Het |
Gldc |
A |
G |
19: 30,135,921 (GRCm39) |
S160P |
probably benign |
Het |
Gm3952 |
A |
G |
8: 129,472,455 (GRCm39) |
S1626P |
possibly damaging |
Het |
Gm9762 |
T |
A |
3: 78,873,742 (GRCm39) |
|
noncoding transcript |
Het |
Gtpbp2 |
T |
C |
17: 46,477,230 (GRCm39) |
|
probably benign |
Het |
Hgd |
A |
T |
16: 37,410,113 (GRCm39) |
T50S |
probably benign |
Het |
Itpr1 |
C |
T |
6: 108,364,459 (GRCm39) |
T22M |
probably damaging |
Het |
Kif26b |
G |
A |
1: 178,743,449 (GRCm39) |
E1182K |
probably damaging |
Het |
Kirrel3 |
A |
G |
9: 34,919,034 (GRCm39) |
E230G |
probably damaging |
Het |
Leng8 |
A |
G |
7: 4,142,987 (GRCm39) |
Y88C |
probably damaging |
Het |
Lpo |
T |
C |
11: 87,711,895 (GRCm39) |
D54G |
possibly damaging |
Het |
Lypd2 |
G |
T |
15: 74,604,908 (GRCm39) |
A29E |
probably benign |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mical3 |
T |
C |
6: 120,936,434 (GRCm39) |
Y1364C |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,935,054 (GRCm39) |
N163S |
probably damaging |
Het |
Mtf1 |
G |
A |
4: 124,718,872 (GRCm39) |
C295Y |
probably damaging |
Het |
Nbn |
T |
A |
4: 15,969,391 (GRCm39) |
L212Q |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,959,852 (GRCm39) |
|
probably null |
Het |
Or10ag56 |
T |
A |
2: 87,139,126 (GRCm39) |
|
probably null |
Het |
Or4c110 |
A |
G |
2: 88,832,435 (GRCm39) |
S66P |
probably damaging |
Het |
Peli1 |
A |
G |
11: 21,098,389 (GRCm39) |
T375A |
probably damaging |
Het |
Picalm |
T |
C |
7: 89,856,803 (GRCm39) |
*611Q |
probably null |
Het |
Plch1 |
G |
T |
3: 63,609,394 (GRCm39) |
Q938K |
possibly damaging |
Het |
Plxnb2 |
A |
G |
15: 89,043,796 (GRCm39) |
V1352A |
possibly damaging |
Het |
Pmepa1 |
G |
A |
2: 173,070,115 (GRCm39) |
R147W |
probably damaging |
Het |
Prdm16 |
T |
G |
4: 154,429,848 (GRCm39) |
K373Q |
probably damaging |
Het |
Qki |
T |
G |
17: 10,457,964 (GRCm39) |
E135A |
probably damaging |
Het |
Rad50 |
T |
C |
11: 53,575,073 (GRCm39) |
K556E |
probably benign |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Sin3a |
T |
A |
9: 57,018,084 (GRCm39) |
D834E |
possibly damaging |
Het |
Smg8 |
G |
A |
11: 86,971,086 (GRCm39) |
S895L |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,890,686 (GRCm39) |
I1944M |
probably benign |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Tmprss7 |
A |
T |
16: 45,481,252 (GRCm39) |
W645R |
probably damaging |
Het |
Tns1 |
T |
C |
1: 73,980,176 (GRCm39) |
M1111V |
probably benign |
Het |
Ttn |
A |
C |
2: 76,608,726 (GRCm39) |
D17763E |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,124,839 (GRCm39) |
|
probably benign |
Het |
Usp31 |
T |
C |
7: 121,260,588 (GRCm39) |
H637R |
probably damaging |
Het |
Vps50 |
A |
C |
6: 3,567,739 (GRCm39) |
E545A |
possibly damaging |
Het |
Wdfy3 |
G |
T |
5: 102,020,724 (GRCm39) |
L2527M |
probably damaging |
Het |
Wfdc2 |
T |
C |
2: 164,405,354 (GRCm39) |
V85A |
possibly damaging |
Het |
|
Other mutations in Epb42 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01535:Epb42
|
APN |
2 |
120,858,169 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01627:Epb42
|
APN |
2 |
120,856,324 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02059:Epb42
|
APN |
2 |
120,855,188 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02869:Epb42
|
APN |
2 |
120,856,227 (GRCm39) |
missense |
probably benign |
|
R0279:Epb42
|
UTSW |
2 |
120,859,525 (GRCm39) |
splice site |
probably benign |
|
R0521:Epb42
|
UTSW |
2 |
120,859,631 (GRCm39) |
nonsense |
probably null |
|
R1457:Epb42
|
UTSW |
2 |
120,860,448 (GRCm39) |
critical splice donor site |
probably null |
|
R2157:Epb42
|
UTSW |
2 |
120,852,243 (GRCm39) |
missense |
probably benign |
|
R2392:Epb42
|
UTSW |
2 |
120,860,468 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2407:Epb42
|
UTSW |
2 |
120,855,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R2866:Epb42
|
UTSW |
2 |
120,856,402 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2993:Epb42
|
UTSW |
2 |
120,859,525 (GRCm39) |
splice site |
probably benign |
|
R3426:Epb42
|
UTSW |
2 |
120,860,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R3427:Epb42
|
UTSW |
2 |
120,860,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R4192:Epb42
|
UTSW |
2 |
120,860,570 (GRCm39) |
splice site |
probably null |
|
R4940:Epb42
|
UTSW |
2 |
120,864,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R5771:Epb42
|
UTSW |
2 |
120,852,301 (GRCm39) |
missense |
probably damaging |
0.99 |
R6048:Epb42
|
UTSW |
2 |
120,854,889 (GRCm39) |
missense |
probably benign |
0.00 |
R6362:Epb42
|
UTSW |
2 |
120,856,260 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6475:Epb42
|
UTSW |
2 |
120,857,614 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6711:Epb42
|
UTSW |
2 |
120,854,589 (GRCm39) |
intron |
probably benign |
|
R6843:Epb42
|
UTSW |
2 |
120,858,166 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6895:Epb42
|
UTSW |
2 |
120,867,104 (GRCm39) |
start gained |
probably benign |
|
R7154:Epb42
|
UTSW |
2 |
120,863,843 (GRCm39) |
missense |
probably benign |
0.01 |
R7192:Epb42
|
UTSW |
2 |
120,854,578 (GRCm39) |
missense |
unknown |
|
R7600:Epb42
|
UTSW |
2 |
120,852,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R7757:Epb42
|
UTSW |
2 |
120,858,200 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7779:Epb42
|
UTSW |
2 |
120,864,916 (GRCm39) |
missense |
probably benign |
0.14 |
R7781:Epb42
|
UTSW |
2 |
120,864,916 (GRCm39) |
missense |
probably benign |
0.14 |
R7782:Epb42
|
UTSW |
2 |
120,864,916 (GRCm39) |
missense |
probably benign |
0.14 |
R7783:Epb42
|
UTSW |
2 |
120,864,916 (GRCm39) |
missense |
probably benign |
0.14 |
R7784:Epb42
|
UTSW |
2 |
120,864,916 (GRCm39) |
missense |
probably benign |
0.14 |
R8737:Epb42
|
UTSW |
2 |
120,856,324 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8915:Epb42
|
UTSW |
2 |
120,849,987 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8930:Epb42
|
UTSW |
2 |
120,854,767 (GRCm39) |
missense |
probably benign |
0.00 |
R8932:Epb42
|
UTSW |
2 |
120,854,767 (GRCm39) |
missense |
probably benign |
0.00 |
R9746:Epb42
|
UTSW |
2 |
120,855,091 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Epb42
|
UTSW |
2 |
120,858,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTAGGTTGGCTTGATACAAATG -3'
(R):5'- ATCAGTGGAGCAATGATCCAG -3'
Sequencing Primer
(F):5'- ATCTACAGAGTGAGTTCCTGGACC -3'
(R):5'- TGATCCAGAGGAGAATTAACACC -3'
|
Posted On |
2016-09-06 |