Incidental Mutation 'R8915:Epb42'
| ID |
678867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epb42
|
| Ensembl Gene |
ENSMUSG00000023216 |
| Gene Name |
erythrocyte membrane protein band 4.2 |
| Synonyms |
Epb4.2 |
| MMRRC Submission |
068703-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8915 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120848372-120867358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120849987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 674
(Q674R)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000102490
AA Change: Q674R
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216
AA Change: Q674R
| 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 |
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 |
0.0867 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (48/48) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
T |
A |
7: 43,903,751 (GRCm39) |
H217L |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,715,558 (GRCm39) |
V877I |
probably damaging |
Het |
| Aste1 |
G |
A |
9: 105,273,880 (GRCm39) |
C40Y |
probably benign |
Het |
| Asxl3 |
T |
A |
18: 22,657,763 (GRCm39) |
D1924E |
probably benign |
Het |
| Bmp4 |
T |
A |
14: 46,621,902 (GRCm39) |
E214V |
probably damaging |
Het |
| Calhm5 |
T |
C |
10: 33,968,415 (GRCm39) |
S213G |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,325,709 (GRCm39) |
L207P |
probably damaging |
Het |
| Cdh24 |
T |
C |
14: 54,876,612 (GRCm39) |
D71G |
probably damaging |
Het |
| Cdhr2 |
G |
T |
13: 54,874,184 (GRCm39) |
W752L |
probably benign |
Het |
| Clec1b |
T |
C |
6: 129,382,212 (GRCm39) |
*230Q |
probably null |
Het |
| Ctbs |
T |
C |
3: 146,169,724 (GRCm39) |
V327A |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,795,991 (GRCm39) |
I129N |
probably benign |
Het |
| Dnajc10 |
T |
A |
2: 80,147,801 (GRCm39) |
L21H |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,156,736 (GRCm39) |
D1487G |
probably benign |
Het |
| Foxb2 |
T |
C |
19: 16,850,958 (GRCm39) |
Y16C |
unknown |
Het |
| Fto |
T |
C |
8: 92,136,471 (GRCm39) |
|
probably null |
Het |
| Gcfc2 |
A |
G |
6: 81,918,347 (GRCm39) |
K346E |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gpam |
A |
G |
19: 55,077,312 (GRCm39) |
S160P |
probably benign |
Het |
| Has2 |
C |
T |
15: 56,531,885 (GRCm39) |
V277I |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,318,456 (GRCm39) |
Y1243H |
probably damaging |
Het |
| Hhat |
C |
T |
1: 192,277,203 (GRCm39) |
E419K |
probably benign |
Het |
| Hsd17b11 |
T |
C |
5: 104,140,802 (GRCm39) |
|
probably null |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Lactbl1 |
G |
T |
4: 136,360,243 (GRCm39) |
A141S |
probably benign |
Het |
| Ncoa5 |
T |
C |
2: 164,854,927 (GRCm39) |
D65G |
possibly damaging |
Het |
| Nfkbie |
A |
G |
17: 45,871,067 (GRCm39) |
I240V |
probably benign |
Het |
| Nim1k |
T |
A |
13: 120,173,874 (GRCm39) |
D340V |
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,876,449 (GRCm39) |
K498R |
possibly damaging |
Het |
| Or52e2 |
C |
T |
7: 102,804,411 (GRCm39) |
C181Y |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,160,957 (GRCm39) |
S357P |
probably damaging |
Het |
| Pigk |
G |
A |
3: 152,472,098 (GRCm39) |
E384K |
probably benign |
Het |
| Ppp4r1 |
T |
C |
17: 66,136,376 (GRCm39) |
V528A |
probably damaging |
Het |
| Rbm34 |
A |
G |
8: 127,679,908 (GRCm39) |
|
probably benign |
Het |
| Rnd1 |
A |
G |
15: 98,575,181 (GRCm39) |
V17A |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 51,977,805 (GRCm39) |
|
probably benign |
Het |
| Samd14 |
A |
C |
11: 94,912,027 (GRCm39) |
D168A |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,123,432 (GRCm39) |
S484G |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,603,363 (GRCm39) |
W1101* |
probably null |
Het |
| Scrn3 |
T |
A |
2: 73,148,636 (GRCm39) |
V69D |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,281,309 (GRCm39) |
T161A |
probably benign |
Het |
| Sh3bp4 |
C |
A |
1: 89,080,064 (GRCm39) |
A873D |
probably damaging |
Het |
| Tmem131 |
A |
T |
1: 36,868,658 (GRCm39) |
I389N |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,016,415 (GRCm39) |
L690P |
probably damaging |
Het |
| Trip13 |
T |
C |
13: 74,081,085 (GRCm39) |
T94A |
probably benign |
Het |
| Vmn1r114 |
A |
T |
7: 20,545,171 (GRCm39) |
L314* |
probably null |
Het |
| Vmn2r44 |
A |
G |
7: 8,370,650 (GRCm39) |
Y799H |
probably damaging |
Het |
| Zfp574 |
T |
C |
7: 24,780,769 (GRCm39) |
L597P |
probably damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,507 (GRCm39) |
C247S |
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 |
|
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 |
|
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'- CTTAGGTTGGCTTGATACAAATGG -3'
(R):5'- ACCCATAGAGATCAGTGGAGC -3'
Sequencing Primer
(F):5'- ATCTACAGAGTGAGTTCCTGGACC -3'
(R):5'- ATCAGTGGAGCAATGATCCAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation