Incidental Mutation 'IGL01627:Epb42'
| ID |
92806 |
| 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 # |
IGL01627
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
120848372-120867358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120856324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 407
(T407A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023987]
[ENSMUST00000102490]
|
| AlphaFold |
P49222 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023987
AA Change: T407A
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000023987
Gene: ENSMUSG00000023216
AA Change: T407A
| 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: ENSMUST00000102490
AA Change: T407A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216
AA Change: T407A
| 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: ENSMUST00000145812
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
| Casp9 |
T |
C |
4: 141,532,853 (GRCm39) |
|
probably benign |
Het |
| Ccdc186 |
G |
A |
19: 56,780,452 (GRCm39) |
T864I |
probably damaging |
Het |
| Cgas |
A |
T |
9: 78,349,996 (GRCm39) |
V57E |
possibly damaging |
Het |
| Chek1 |
T |
A |
9: 36,635,191 (GRCm39) |
H64L |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,309,367 (GRCm39) |
S207P |
probably damaging |
Het |
| Clec4n |
A |
G |
6: 123,221,433 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
G |
A |
1: 24,218,689 (GRCm39) |
|
probably null |
Het |
| Dgkd |
A |
G |
1: 87,808,150 (GRCm39) |
R73G |
probably damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,682,915 (GRCm39) |
T562S |
probably benign |
Het |
| Eps8l3 |
A |
G |
3: 107,788,487 (GRCm39) |
D58G |
probably damaging |
Het |
| Fuca1 |
A |
T |
4: 135,652,862 (GRCm39) |
N162I |
possibly damaging |
Het |
| Gramd1a |
T |
C |
7: 30,839,221 (GRCm39) |
D229G |
probably damaging |
Het |
| Grin1 |
A |
G |
2: 25,208,709 (GRCm39) |
S64P |
probably damaging |
Het |
| Hgd |
T |
G |
16: 37,442,287 (GRCm39) |
V243G |
probably damaging |
Het |
| Il23r |
A |
T |
6: 67,400,412 (GRCm39) |
N639K |
probably benign |
Het |
| Il33 |
A |
G |
19: 29,929,390 (GRCm39) |
T38A |
possibly damaging |
Het |
| Mycbpap |
T |
C |
11: 94,405,430 (GRCm39) |
E33G |
probably damaging |
Het |
| Npas1 |
C |
T |
7: 16,199,111 (GRCm39) |
G148D |
probably damaging |
Het |
| Ntan1 |
C |
T |
16: 13,652,603 (GRCm39) |
T233M |
probably benign |
Het |
| Or6c5 |
A |
T |
10: 129,074,138 (GRCm39) |
N40I |
probably damaging |
Het |
| Plscr1l1 |
A |
T |
9: 92,229,864 (GRCm39) |
I23F |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,708,002 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
T |
C |
2: 163,706,022 (GRCm39) |
Y204C |
probably damaging |
Het |
| Selp |
A |
G |
1: 163,971,461 (GRCm39) |
|
probably null |
Het |
| Senp7 |
A |
G |
16: 55,992,219 (GRCm39) |
E725G |
probably damaging |
Het |
| Snx31 |
A |
T |
15: 36,517,818 (GRCm39) |
F366Y |
probably damaging |
Het |
| Spats2l |
A |
G |
1: 57,941,241 (GRCm39) |
|
probably benign |
Het |
| Tssk4 |
T |
C |
14: 55,888,010 (GRCm39) |
F69L |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,335,806 (GRCm39) |
L9P |
probably damaging |
Het |
| Vmn2r76 |
A |
T |
7: 85,874,871 (GRCm39) |
I702N |
probably damaging |
Het |
| Vps18 |
C |
A |
2: 119,127,672 (GRCm39) |
R832S |
probably benign |
Het |
| Xpo6 |
A |
G |
7: 125,748,506 (GRCm39) |
L375P |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,008,912 (GRCm39) |
P293T |
possibly damaging |
Het |
| Zyg11b |
T |
C |
4: 108,107,985 (GRCm39) |
I474V |
probably benign |
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 |
|
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 |
2013-12-09 |
Incidental Mutation