Incidental Mutation 'R3426:Epb42'
ID |
267871 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epb42
|
Ensembl Gene |
ENSMUSG00000023216 |
Gene Name |
erythrocyte membrane protein band 4.2 |
Synonyms |
Epb4.2 |
MMRRC Submission |
040644-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3426 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
120848372-120867358 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120860520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 160
(L160M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099548
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023987]
[ENSMUST00000102490]
|
AlphaFold |
P49222 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023987
AA Change: L160M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023987 Gene: ENSMUSG00000023216 AA Change: L160M
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: L160M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099548 Gene: ENSMUSG00000023216 AA Change: L160M
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: ENSMUST00000152217
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
C |
A |
8: 25,157,620 (GRCm39) |
C110F |
probably damaging |
Het |
Adrb3 |
T |
C |
8: 27,718,209 (GRCm39) |
D80G |
probably damaging |
Het |
Akap6 |
A |
T |
12: 52,934,817 (GRCm39) |
N770Y |
probably damaging |
Het |
Ank3 |
A |
G |
10: 69,542,724 (GRCm39) |
H28R |
probably benign |
Het |
Atrn |
A |
G |
2: 130,862,876 (GRCm39) |
M1319V |
probably benign |
Het |
BC034090 |
T |
C |
1: 155,117,244 (GRCm39) |
I291M |
probably benign |
Het |
Cc2d2a |
T |
C |
5: 43,893,451 (GRCm39) |
S1416P |
probably benign |
Het |
Chd6 |
G |
T |
2: 160,832,175 (GRCm39) |
T999N |
probably damaging |
Het |
Col9a2 |
C |
A |
4: 120,907,604 (GRCm39) |
A335E |
possibly damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Igtp |
G |
A |
11: 58,097,419 (GRCm39) |
V197I |
probably damaging |
Het |
Nup214 |
G |
A |
2: 31,923,415 (GRCm39) |
V1315M |
probably damaging |
Het |
Or4c100 |
T |
A |
2: 88,356,208 (GRCm39) |
C94S |
probably damaging |
Het |
Plek |
T |
C |
11: 16,940,142 (GRCm39) |
Y166C |
probably damaging |
Het |
Prdm4 |
T |
C |
10: 85,746,153 (GRCm39) |
N85D |
probably damaging |
Het |
Prelid1 |
T |
G |
13: 55,470,007 (GRCm39) |
V2G |
probably benign |
Het |
Serac1 |
T |
C |
17: 6,117,053 (GRCm39) |
I168V |
probably benign |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc22a5 |
A |
G |
11: 53,760,152 (GRCm39) |
V388A |
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpv3 |
A |
T |
11: 73,176,767 (GRCm39) |
Y382F |
probably damaging |
Het |
Ttyh1 |
T |
C |
7: 4,136,218 (GRCm39) |
|
probably null |
Het |
Ubr2 |
T |
C |
17: 47,279,365 (GRCm39) |
Y681C |
probably damaging |
Het |
Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
Utp14b |
T |
C |
1: 78,643,056 (GRCm39) |
M318T |
probably damaging |
Het |
Vars2 |
A |
T |
17: 35,972,866 (GRCm39) |
I442N |
probably damaging |
Het |
Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
Zfp606 |
T |
C |
7: 12,223,591 (GRCm39) |
M34T |
probably 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCACCTCAGGTTGACAAG -3'
(R):5'- TTAACAGAGGGTGAGTGGTCC -3'
Sequencing Primer
(F):5'- AGGGCTCTTGAACCTGCAAG -3'
(R):5'- CAGTGAGAAGTACCCTCCTGAGTTTG -3'
|
Posted On |
2015-02-18 |