Incidental Mutation 'R6711:Epb42'
ID |
529116 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Epb42
|
Ensembl Gene |
ENSMUSG00000023216 |
Gene Name |
erythrocyte membrane protein band 4.2 |
Synonyms |
Epb4.2 |
MMRRC Submission |
044829-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6711 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120848372-120867358 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 120854589 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 |
unknown
Transcript: ENSMUST00000023987
AA Change: R665S
|
SMART Domains |
Protein: ENSMUSP00000023987 Gene: ENSMUSG00000023216 AA Change: R665S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124703
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128360
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147444
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (47/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c21 |
A |
G |
13: 4,627,374 (GRCm39) |
D156G |
probably damaging |
Het |
Ankrd35 |
C |
T |
3: 96,590,784 (GRCm39) |
Q357* |
probably null |
Het |
Ano2 |
G |
A |
6: 125,752,795 (GRCm39) |
A191T |
probably damaging |
Het |
Cacna2d1 |
C |
T |
5: 16,505,039 (GRCm39) |
T331I |
probably damaging |
Het |
Ccdc81 |
T |
G |
7: 89,537,006 (GRCm39) |
E214A |
probably damaging |
Het |
Cdh4 |
A |
G |
2: 179,532,724 (GRCm39) |
T729A |
probably damaging |
Het |
Ceacam2 |
A |
G |
7: 25,238,295 (GRCm39) |
L43P |
probably benign |
Het |
Ces2h |
A |
T |
8: 105,744,715 (GRCm39) |
R364S |
probably benign |
Het |
Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
Entrep1 |
T |
C |
19: 23,955,463 (GRCm39) |
N385S |
probably benign |
Het |
Fcgbp |
G |
A |
7: 27,789,098 (GRCm39) |
V555M |
probably damaging |
Het |
Ganc |
A |
T |
2: 120,281,320 (GRCm39) |
H723L |
possibly damaging |
Het |
Gfra2 |
A |
G |
14: 71,203,715 (GRCm39) |
D31G |
probably damaging |
Het |
Glrb |
A |
G |
3: 80,752,281 (GRCm39) |
I443T |
probably benign |
Het |
Hcfc1 |
A |
T |
X: 72,993,671 (GRCm39) |
C1165S |
probably damaging |
Homo |
Hoxd10 |
A |
G |
2: 74,524,507 (GRCm39) |
Y273C |
probably damaging |
Het |
Iba57 |
T |
C |
11: 59,049,369 (GRCm39) |
T267A |
probably damaging |
Het |
Impg2 |
C |
A |
16: 56,085,449 (GRCm39) |
P943H |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,048,750 (GRCm39) |
T145A |
probably damaging |
Het |
Lmntd1 |
T |
C |
6: 145,489,228 (GRCm39) |
Y11C |
probably benign |
Het |
Lyst |
A |
T |
13: 13,809,820 (GRCm39) |
T497S |
possibly damaging |
Het |
Man1a |
G |
A |
10: 53,809,588 (GRCm39) |
H406Y |
probably benign |
Het |
Mme |
A |
T |
3: 63,249,339 (GRCm39) |
K289N |
possibly damaging |
Het |
Mrps21 |
G |
A |
3: 95,777,895 (GRCm39) |
|
probably benign |
Het |
Mtor |
A |
G |
4: 148,536,824 (GRCm39) |
N33D |
possibly damaging |
Het |
Ncoa1 |
C |
A |
12: 4,372,904 (GRCm39) |
A166S |
probably benign |
Het |
Ndrg2 |
A |
T |
14: 52,147,782 (GRCm39) |
F112I |
possibly damaging |
Het |
Neb |
A |
C |
2: 52,113,076 (GRCm39) |
F36C |
probably benign |
Het |
Neb |
A |
G |
2: 52,146,299 (GRCm39) |
Y2893H |
probably damaging |
Het |
Or8g22 |
A |
G |
9: 38,958,162 (GRCm39) |
*229Q |
probably null |
Het |
Pcdh15 |
A |
T |
10: 74,478,219 (GRCm39) |
E231D |
possibly damaging |
Het |
Pih1d2 |
T |
A |
9: 50,529,310 (GRCm39) |
M1K |
probably null |
Het |
Pla2g4e |
T |
C |
2: 120,001,751 (GRCm39) |
N633D |
probably benign |
Het |
Rph3al |
C |
A |
11: 75,799,810 (GRCm39) |
G50* |
probably null |
Het |
Rtcb |
A |
T |
10: 85,774,963 (GRCm39) |
N477K |
possibly damaging |
Het |
Scn10a |
A |
G |
9: 119,438,979 (GRCm39) |
F1630S |
probably damaging |
Het |
Srfbp1 |
T |
C |
18: 52,621,373 (GRCm39) |
S145P |
probably damaging |
Het |
St7 |
A |
G |
6: 17,848,069 (GRCm39) |
E211G |
possibly damaging |
Het |
Thbs2 |
T |
C |
17: 14,910,527 (GRCm39) |
D24G |
probably benign |
Het |
Tlr6 |
C |
A |
5: 65,111,835 (GRCm39) |
M357I |
probably damaging |
Het |
Tmem168 |
T |
C |
6: 13,603,120 (GRCm39) |
Y82C |
probably damaging |
Het |
Tnrc18 |
A |
T |
5: 142,773,545 (GRCm39) |
L245Q |
unknown |
Het |
Vmn1r8 |
T |
C |
6: 57,013,444 (GRCm39) |
L165P |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,887,395 (GRCm39) |
Y3268C |
probably damaging |
Het |
Zdhhc7 |
A |
G |
8: 120,810,066 (GRCm39) |
I218T |
probably benign |
Het |
Zfp213 |
A |
G |
17: 23,778,485 (GRCm39) |
F209S |
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 |
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'- TTGTAGTCCCGTGGATGAGC -3'
(R):5'- TCTGACACACTGAGAGGACC -3'
Sequencing Primer
(F):5'- AGTATAGACCAGGCATAGAGTTTCCC -3'
(R):5'- TGCAATTAGATAAGTACACAGCCC -3'
|
Posted On |
2018-07-24 |