Incidental Mutation 'R6895:Epb42'
| ID |
538272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epb42
|
| Ensembl Gene |
ENSMUSG00000023216 |
| Gene Name |
erythrocyte membrane protein band 4.2 |
| Synonyms |
Epb4.2 |
| MMRRC Submission |
044989-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6895 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120848372-120867358 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
G to A
at 120867104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023987]
[ENSMUST00000102490]
|
| 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: ENSMUST00000102490
|
| SMART Domains |
Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
100% (45/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
A |
G |
18: 12,394,046 (GRCm39) |
V256A |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,110,076 (GRCm39) |
D139G |
probably benign |
Het |
| AU040320 |
T |
C |
4: 126,685,723 (GRCm39) |
W100R |
probably damaging |
Het |
| C4bp |
T |
C |
1: 130,563,943 (GRCm39) |
*470W |
probably null |
Het |
| Capn8 |
C |
A |
1: 182,456,234 (GRCm39) |
D661E |
possibly damaging |
Het |
| Car14 |
T |
C |
3: 95,805,472 (GRCm39) |
T334A |
probably benign |
Het |
| Cfhr4 |
G |
A |
1: 139,668,210 (GRCm39) |
P308S |
possibly damaging |
Het |
| Chd6 |
T |
A |
2: 160,830,260 (GRCm39) |
T1012S |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,529,910 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
A |
G |
12: 69,244,437 (GRCm39) |
V208A |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,958,926 (GRCm39) |
W2986R |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,045,497 (GRCm39) |
F780L |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Grid2 |
T |
C |
6: 64,372,283 (GRCm39) |
F655S |
probably damaging |
Het |
| Homer3 |
T |
C |
8: 70,737,955 (GRCm39) |
S2P |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,038,883 (GRCm39) |
V207A |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,445,557 (GRCm39) |
|
probably null |
Het |
| Jak1 |
C |
T |
4: 101,011,734 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
A |
G |
10: 67,052,869 (GRCm39) |
I220V |
probably benign |
Het |
| Kat6a |
T |
G |
8: 23,425,799 (GRCm39) |
S1115A |
possibly damaging |
Het |
| Larp4 |
T |
G |
15: 99,905,611 (GRCm39) |
|
probably null |
Het |
| Lrrc72 |
T |
G |
12: 36,259,717 (GRCm39) |
D43A |
probably damaging |
Het |
| Mptx2 |
A |
C |
1: 173,105,252 (GRCm39) |
V13G |
probably benign |
Het |
| Nmbr |
A |
T |
10: 14,645,704 (GRCm39) |
*258Y |
probably null |
Het |
| Nup210l |
C |
T |
3: 90,067,231 (GRCm39) |
A757V |
probably damaging |
Het |
| Nup62 |
A |
G |
7: 44,479,157 (GRCm39) |
K391E |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 94,970,314 (GRCm39) |
I71K |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,323 (GRCm39) |
C177S |
probably damaging |
Het |
| Or8b51 |
A |
C |
9: 38,569,385 (GRCm39) |
L101R |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,254,346 (GRCm39) |
M547T |
possibly damaging |
Het |
| Ropn1 |
A |
T |
16: 34,497,668 (GRCm39) |
I187F |
possibly damaging |
Het |
| Rtp3 |
T |
C |
9: 110,816,264 (GRCm39) |
R96G |
possibly damaging |
Het |
| Sfrp5 |
A |
T |
19: 42,188,227 (GRCm39) |
S197R |
probably damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,185,440 (GRCm39) |
H903R |
probably damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,513,523 (GRCm39) |
A482S |
probably damaging |
Het |
| Slc2a12 |
G |
T |
10: 22,568,084 (GRCm39) |
A504S |
probably damaging |
Het |
| Slitrk5 |
C |
A |
14: 111,919,085 (GRCm39) |
P903Q |
probably damaging |
Het |
| Tas2r123 |
A |
T |
6: 132,824,133 (GRCm39) |
H10L |
probably benign |
Het |
| Tex46 |
T |
C |
4: 136,340,212 (GRCm39) |
V99A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,413,604 (GRCm38) |
V1024A |
probably benign |
Het |
| Ugt2b36 |
G |
A |
5: 87,240,157 (GRCm39) |
T76I |
probably benign |
Het |
| Usp31 |
G |
T |
7: 121,252,399 (GRCm39) |
T747K |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
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 |
|
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 |
|
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'- TTGCCATGCAACTGCCTACC -3'
(R):5'- TTATTGATCTAGCCTGACAGACAG -3'
Sequencing Primer
(F):5'- TGCAACTGCCTACCCCACAC -3'
(R):5'- CAGCTGGCCTAGGAGATAGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation