Incidental Mutation 'IGL01535:Epb42'
| ID |
89934 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Epb42
|
| Ensembl Gene |
ENSMUSG00000023216 |
| Gene Name |
erythrocyte membrane protein band 4.2 |
| Synonyms |
Epb4.2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01535
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
120848372-120867358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120858169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 263
(V263A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023987]
[ENSMUST00000102490]
|
| AlphaFold |
P49222 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023987
AA Change: V263A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023987
Gene: ENSMUSG00000023216
AA Change: V263A
| 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 damaging
Transcript: ENSMUST00000102490
AA Change: V263A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216
AA Change: V263A
| 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: ENSMUST00000128360
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147444
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,101,891 (GRCm39) |
S654T |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,731,212 (GRCm39) |
H600R |
possibly damaging |
Het |
| Cacnb3 |
A |
T |
15: 98,537,469 (GRCm39) |
Q49L |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,878,845 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,566,846 (GRCm39) |
L1091* |
probably null |
Het |
| Fig4 |
T |
G |
10: 41,132,490 (GRCm39) |
S439R |
probably benign |
Het |
| Gatc |
A |
T |
5: 115,479,048 (GRCm39) |
V54E |
possibly damaging |
Het |
| Hook2 |
T |
C |
8: 85,729,618 (GRCm39) |
L686P |
probably benign |
Het |
| Med12l |
A |
T |
3: 59,169,680 (GRCm39) |
T1615S |
probably damaging |
Het |
| Msr1 |
C |
T |
8: 40,064,714 (GRCm39) |
G320D |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,256,414 (GRCm39) |
F220I |
probably damaging |
Het |
| Or14j2 |
T |
A |
17: 37,885,679 (GRCm39) |
I212F |
possibly damaging |
Het |
| Or2l5 |
G |
A |
16: 19,334,228 (GRCm39) |
H53Y |
probably benign |
Het |
| Pcdh10 |
A |
T |
3: 45,334,078 (GRCm39) |
I131F |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,660,697 (GRCm39) |
E784G |
possibly damaging |
Het |
| Prr36 |
A |
T |
8: 4,264,043 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
G |
A |
10: 107,535,457 (GRCm39) |
S436L |
probably benign |
Het |
| Rock1 |
T |
A |
18: 10,132,119 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
T |
G |
10: 8,617,341 (GRCm39) |
T522P |
probably damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,447,503 (GRCm39) |
|
probably null |
Het |
| Supt16 |
T |
C |
14: 52,414,647 (GRCm39) |
K422E |
probably damaging |
Het |
| Syt14 |
T |
G |
1: 192,669,073 (GRCm39) |
D60A |
probably damaging |
Het |
| Tbc1d2b |
A |
C |
9: 90,097,526 (GRCm39) |
|
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,605,954 (GRCm39) |
I565T |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,564,536 (GRCm39) |
Y28534H |
probably damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,765 (GRCm39) |
H37L |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,455,103 (GRCm39) |
N671Y |
possibly damaging |
Het |
|
| Other mutations in Epb42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R5368:Epb42
|
UTSW |
2 |
120,849,943 (GRCm39) |
missense |
probably benign |
0.22 |
|
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 |
|
| Posted On |
2013-12-03 |
Incidental Mutation