Incidental Mutation 'R6552:Epb41l4a'
| ID |
521752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epb41l4a
|
| Ensembl Gene |
ENSMUSG00000024376 |
| Gene Name |
erythrocyte membrane protein band 4.1 like 4a |
| Synonyms |
NBL4, Epb4.1l4a |
| MMRRC Submission |
044677-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6552 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
33929380-34140019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34012032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 163
(Y163H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025234]
|
| AlphaFold |
P52963 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025234
AA Change: Y163H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376
AA Change: Y163H
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
7 |
211 |
3.32e-78 |
SMART |
|
FERM_C
|
215 |
303 |
1.48e-28 |
SMART |
|
FA
|
310 |
357 |
2.25e-10 |
SMART |
|
low complexity region
|
468 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
606 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang5 |
A |
T |
14: 44,200,254 (GRCm39) |
H106L |
probably benign |
Het |
| Arsk |
A |
G |
13: 76,220,315 (GRCm39) |
Y260H |
probably damaging |
Het |
| Atxn2l |
C |
T |
7: 126,092,993 (GRCm39) |
V833M |
possibly damaging |
Het |
| Bpifa6 |
G |
A |
2: 153,829,078 (GRCm39) |
D202N |
probably damaging |
Het |
| Ccdc103 |
A |
G |
11: 102,774,970 (GRCm39) |
S190G |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,576,112 (GRCm39) |
V2083I |
probably damaging |
Het |
| Creb5 |
A |
G |
6: 53,662,369 (GRCm39) |
D222G |
probably damaging |
Het |
| Cyp7a1 |
C |
T |
4: 6,272,361 (GRCm39) |
W284* |
probably null |
Het |
| Dnmt3a |
T |
C |
12: 3,957,623 (GRCm39) |
V868A |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,729,339 (GRCm39) |
D680G |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Gabra1 |
A |
T |
11: 42,037,926 (GRCm39) |
S231T |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,343,299 (GRCm39) |
F42I |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,541,814 (GRCm39) |
S1187N |
probably benign |
Het |
| Haspin |
A |
G |
11: 73,028,390 (GRCm39) |
V233A |
probably benign |
Het |
| Il34 |
T |
A |
8: 111,469,059 (GRCm39) |
K187I |
probably benign |
Het |
| Kcnn2 |
A |
G |
18: 45,693,165 (GRCm39) |
H247R |
probably benign |
Het |
| Klf5 |
T |
C |
14: 99,539,078 (GRCm39) |
S84P |
probably benign |
Het |
| Lama5 |
G |
T |
2: 179,822,947 (GRCm39) |
P2773Q |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,311 (GRCm39) |
M404V |
possibly damaging |
Het |
| Lrp6 |
A |
T |
6: 134,431,692 (GRCm39) |
S1473T |
probably benign |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
| Mn1 |
T |
C |
5: 111,568,753 (GRCm39) |
S908P |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or2ag13 |
TGAAGCC |
T |
7: 106,313,850 (GRCm39) |
|
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,046 (GRCm39) |
M340L |
probably benign |
Het |
| Pex1 |
G |
A |
5: 3,673,953 (GRCm39) |
E748K |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,411,504 (GRCm39) |
V343A |
possibly damaging |
Het |
| Rho |
A |
G |
6: 115,908,709 (GRCm39) |
|
probably null |
Het |
| Sdhaf4 |
C |
A |
1: 24,044,687 (GRCm39) |
|
probably benign |
Het |
| Sec24d |
A |
G |
3: 123,084,201 (GRCm39) |
I127V |
probably benign |
Het |
| Siae |
T |
C |
9: 37,557,696 (GRCm39) |
V501A |
possibly damaging |
Het |
| Skint3 |
T |
C |
4: 112,147,482 (GRCm39) |
Y402H |
possibly damaging |
Het |
| Skint6 |
A |
C |
4: 112,924,687 (GRCm39) |
V515G |
possibly damaging |
Het |
| Slc23a1 |
C |
A |
18: 35,755,391 (GRCm39) |
G475C |
probably damaging |
Het |
| Smad9 |
A |
G |
3: 54,690,167 (GRCm39) |
Y129C |
probably damaging |
Het |
| Snw1 |
A |
G |
12: 87,506,189 (GRCm39) |
|
probably null |
Het |
| Spice1 |
A |
G |
16: 44,199,396 (GRCm39) |
D616G |
possibly damaging |
Het |
| Stam2 |
T |
C |
2: 52,598,239 (GRCm39) |
|
probably null |
Het |
| Sumo3 |
G |
T |
10: 77,442,091 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
G |
12: 75,937,015 (GRCm39) |
N204K |
possibly damaging |
Het |
| Tmem200a |
T |
C |
10: 25,869,381 (GRCm39) |
N296S |
probably damaging |
Het |
| Ttbk1 |
G |
T |
17: 46,789,888 (GRCm39) |
T125N |
probably benign |
Het |
| Ubr2 |
G |
T |
17: 47,277,194 (GRCm39) |
|
probably null |
Het |
| Vmn1r80 |
C |
T |
7: 11,927,684 (GRCm39) |
L265F |
probably damaging |
Het |
| Vwa8 |
A |
T |
14: 79,435,662 (GRCm39) |
T1791S |
possibly damaging |
Het |
|
| Other mutations in Epb41l4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Epb41l4a
|
APN |
18 |
33,934,678 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02942:Epb41l4a
|
APN |
18 |
34,007,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03051:Epb41l4a
|
APN |
18 |
34,007,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03236:Epb41l4a
|
APN |
18 |
33,943,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT1430001:Epb41l4a
|
UTSW |
18 |
33,930,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Epb41l4a
|
UTSW |
18 |
33,931,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0148:Epb41l4a
|
UTSW |
18 |
33,931,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0437:Epb41l4a
|
UTSW |
18 |
34,013,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Epb41l4a
|
UTSW |
18 |
33,965,717 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1666:Epb41l4a
|
UTSW |
18 |
34,054,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Epb41l4a
|
UTSW |
18 |
34,054,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Epb41l4a
|
UTSW |
18 |
33,961,261 (GRCm39) |
nonsense |
probably null |
|
|
R2022:Epb41l4a
|
UTSW |
18 |
34,054,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2047:Epb41l4a
|
UTSW |
18 |
33,961,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2133:Epb41l4a
|
UTSW |
18 |
34,007,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3741:Epb41l4a
|
UTSW |
18 |
33,961,155 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4393:Epb41l4a
|
UTSW |
18 |
34,024,473 (GRCm39) |
splice site |
probably null |
|
|
R4700:Epb41l4a
|
UTSW |
18 |
33,935,560 (GRCm39) |
splice site |
probably null |
|
|
R4878:Epb41l4a
|
UTSW |
18 |
33,931,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5226:Epb41l4a
|
UTSW |
18 |
33,943,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5284:Epb41l4a
|
UTSW |
18 |
33,931,853 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5584:Epb41l4a
|
UTSW |
18 |
33,987,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5945:Epb41l4a
|
UTSW |
18 |
33,961,783 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6005:Epb41l4a
|
UTSW |
18 |
33,961,196 (GRCm39) |
missense |
probably benign |
|
|
R6038:Epb41l4a
|
UTSW |
18 |
33,987,388 (GRCm39) |
missense |
probably benign |
|
|
R6038:Epb41l4a
|
UTSW |
18 |
33,987,388 (GRCm39) |
missense |
probably benign |
|
|
R6177:Epb41l4a
|
UTSW |
18 |
33,931,868 (GRCm39) |
splice site |
probably null |
|
|
R6188:Epb41l4a
|
UTSW |
18 |
33,965,718 (GRCm39) |
missense |
probably benign |
|
|
R6314:Epb41l4a
|
UTSW |
18 |
34,007,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7605:Epb41l4a
|
UTSW |
18 |
33,930,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7665:Epb41l4a
|
UTSW |
18 |
34,139,069 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7727:Epb41l4a
|
UTSW |
18 |
33,987,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7729:Epb41l4a
|
UTSW |
18 |
33,987,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7802:Epb41l4a
|
UTSW |
18 |
33,961,227 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7857:Epb41l4a
|
UTSW |
18 |
34,139,098 (GRCm39) |
nonsense |
probably null |
|
|
R8281:Epb41l4a
|
UTSW |
18 |
34,011,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9029:Epb41l4a
|
UTSW |
18 |
34,012,042 (GRCm39) |
nonsense |
probably null |
|
|
R9135:Epb41l4a
|
UTSW |
18 |
33,965,729 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9326:Epb41l4a
|
UTSW |
18 |
33,961,261 (GRCm39) |
nonsense |
probably null |
|
|
R9405:Epb41l4a
|
UTSW |
18 |
33,943,271 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9555:Epb41l4a
|
UTSW |
18 |
34,009,966 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0028:Epb41l4a
|
UTSW |
18 |
33,935,590 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGATAGCTGGGGTTTTCAATGAGC -3'
(R):5'- AGCCTGTGGGAATGCAAAAC -3'
Sequencing Primer
(F):5'- CTGGGGTTTTCAATGAGCATTTATTG -3'
(R):5'- GGGAATGCAAAACCACTTTATTTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation