Incidental Mutation 'R2392:Epb42'
ID |
247788 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epb42
|
Ensembl Gene |
ENSMUSG00000023216 |
Gene Name |
erythrocyte membrane protein band 4.2 |
Synonyms |
Epb4.2 |
MMRRC Submission |
040360-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2392 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120848372-120867358 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120860468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 177
(E177G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023987
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023987]
[ENSMUST00000102490]
|
AlphaFold |
P49222 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023987
AA Change: E177G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000023987 Gene: ENSMUSG00000023216 AA Change: E177G
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 |
possibly damaging
Transcript: ENSMUST00000102490
AA Change: E177G
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099548 Gene: ENSMUSG00000023216 AA Change: E177G
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
|
Meta Mutation Damage Score |
0.0899 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
96% (53/55) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,297,264 (GRCm39) |
S2409T |
probably damaging |
Het |
Acap2 |
A |
G |
16: 30,958,458 (GRCm39) |
F120S |
probably damaging |
Het |
Akr1c6 |
A |
G |
13: 4,484,477 (GRCm39) |
|
probably null |
Het |
Bptf |
C |
A |
11: 106,963,573 (GRCm39) |
A1874S |
probably damaging |
Het |
Ccnl1 |
A |
G |
3: 65,856,173 (GRCm39) |
V244A |
probably damaging |
Het |
Cenpe |
T |
G |
3: 134,953,874 (GRCm39) |
L1628R |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,860,873 (GRCm39) |
|
probably null |
Het |
Chchd7 |
T |
A |
4: 3,943,381 (GRCm39) |
|
probably null |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Crybg2 |
G |
T |
4: 133,799,925 (GRCm39) |
V362L |
probably benign |
Het |
Ddx11 |
T |
A |
17: 66,456,968 (GRCm39) |
V791E |
probably damaging |
Het |
Disp1 |
G |
A |
1: 182,868,731 (GRCm39) |
P1230S |
probably benign |
Het |
Elp5 |
T |
C |
11: 69,865,928 (GRCm39) |
H116R |
probably benign |
Het |
F13a1 |
T |
A |
13: 37,127,971 (GRCm39) |
I336F |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fcsk |
A |
G |
8: 111,616,356 (GRCm39) |
M453T |
probably benign |
Het |
Hacd2 |
A |
T |
16: 34,926,748 (GRCm39) |
E249V |
probably benign |
Het |
Hnrnpf |
C |
A |
6: 117,901,829 (GRCm39) |
A371D |
possibly damaging |
Het |
Jmjd1c |
A |
G |
10: 67,065,683 (GRCm39) |
T1703A |
probably damaging |
Het |
Kcnj13 |
G |
A |
1: 87,314,622 (GRCm39) |
T200I |
possibly damaging |
Het |
Kif1b |
G |
A |
4: 149,305,077 (GRCm39) |
T949M |
possibly damaging |
Het |
Klhl35 |
G |
A |
7: 99,123,031 (GRCm39) |
A552T |
possibly damaging |
Het |
Krt74 |
A |
G |
15: 101,665,236 (GRCm39) |
|
noncoding transcript |
Het |
Krtap14 |
T |
A |
16: 88,622,597 (GRCm39) |
|
probably null |
Het |
Lrrc45 |
A |
G |
11: 120,610,365 (GRCm39) |
N492S |
probably benign |
Het |
Lrrcc1 |
T |
A |
3: 14,601,580 (GRCm39) |
N114K |
probably damaging |
Het |
Mfsd2b |
T |
C |
12: 4,915,164 (GRCm39) |
D375G |
possibly damaging |
Het |
Mgat4a |
A |
G |
1: 37,537,785 (GRCm39) |
L44P |
probably damaging |
Het |
Mttp |
A |
C |
3: 137,800,782 (GRCm39) |
D774E |
probably damaging |
Het |
Myo5a |
T |
C |
9: 75,116,521 (GRCm39) |
V1554A |
probably benign |
Het |
Nes |
C |
T |
3: 87,883,250 (GRCm39) |
A503V |
probably benign |
Het |
Nme8 |
A |
G |
13: 19,873,113 (GRCm39) |
|
probably null |
Het |
Nr4a1 |
A |
G |
15: 101,172,075 (GRCm39) |
D583G |
possibly damaging |
Het |
Or12d17 |
A |
G |
17: 37,777,310 (GRCm39) |
Y71C |
probably damaging |
Het |
Or5k14 |
A |
G |
16: 58,692,797 (GRCm39) |
S239P |
probably damaging |
Het |
Pnpla8 |
T |
A |
12: 44,358,287 (GRCm39) |
L746I |
probably damaging |
Het |
Ppp1r7 |
A |
T |
1: 93,282,063 (GRCm39) |
I205F |
probably benign |
Het |
Psd4 |
C |
A |
2: 24,284,679 (GRCm39) |
P181Q |
probably damaging |
Het |
Ripor2 |
G |
A |
13: 24,890,206 (GRCm39) |
V694I |
probably benign |
Het |
Scn10a |
A |
G |
9: 119,456,268 (GRCm39) |
S1185P |
possibly damaging |
Het |
Sec23b |
T |
A |
2: 144,427,507 (GRCm39) |
|
probably null |
Het |
Slfn2 |
A |
G |
11: 82,956,154 (GRCm39) |
N12S |
possibly damaging |
Het |
Slfn4 |
A |
G |
11: 83,076,248 (GRCm39) |
K38R |
possibly damaging |
Het |
Smarca2 |
G |
T |
19: 26,618,050 (GRCm39) |
|
probably null |
Het |
Taar4 |
A |
G |
10: 23,837,172 (GRCm39) |
T261A |
possibly damaging |
Het |
Tbl2 |
A |
G |
5: 135,185,368 (GRCm39) |
D159G |
probably benign |
Het |
Tmem120a |
T |
C |
5: 135,770,892 (GRCm39) |
E55G |
probably damaging |
Het |
Ttc21b |
A |
G |
2: 66,037,794 (GRCm39) |
|
probably null |
Het |
Vill |
A |
T |
9: 118,896,628 (GRCm39) |
|
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,487,130 (GRCm39) |
M511K |
probably damaging |
Het |
Vmn2r81 |
A |
T |
10: 79,110,516 (GRCm39) |
D543V |
probably damaging |
Het |
Wdr95 |
A |
G |
5: 149,504,135 (GRCm39) |
T314A |
probably benign |
Het |
Zbtb8b |
A |
G |
4: 129,326,982 (GRCm39) |
I61T |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCTAGTCCAAGCAGCAGC -3'
(R):5'- TCCTGAGTTTGAATTGGGCC -3'
Sequencing Primer
(F):5'- CTGCGGAGAGTATAGTAATGTGGTCC -3'
(R):5'- CCCTGGGTTGCAAGAGAG -3'
|
Posted On |
2014-11-11 |