Incidental Mutation 'R5408:Epb41l2'
| ID |
426405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epb41l2
|
| Ensembl Gene |
ENSMUSG00000019978 |
| Gene Name |
erythrocyte membrane protein band 4.1 like 2 |
| Synonyms |
Epb4.1l2, 4.1G, D10Ertd398e, NBL2 |
| MMRRC Submission |
042977-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R5408 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
25235696-25399417 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 25343992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053748]
[ENSMUST00000092645]
[ENSMUST00000092645]
[ENSMUST00000217929]
[ENSMUST00000218903]
[ENSMUST00000219805]
[ENSMUST00000219900]
|
| AlphaFold |
O70318 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053748
|
| SMART Domains |
Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
207 |
402 |
3.22e-76 |
SMART |
|
FERM_C
|
406 |
496 |
2.15e-39 |
SMART |
|
FA
|
499 |
545 |
1.93e-18 |
SMART |
|
low complexity region
|
555 |
567 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
613 |
661 |
1.8e-23 |
PFAM |
|
low complexity region
|
717 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
763 |
N/A |
INTRINSIC |
|
Pfam:4_1_CTD
|
875 |
981 |
1.1e-51 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000092645
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
207 |
402 |
3.22e-76 |
SMART |
|
FERM_C
|
406 |
496 |
2.15e-39 |
SMART |
|
FA
|
499 |
545 |
1.93e-18 |
SMART |
|
low complexity region
|
555 |
567 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
613 |
661 |
6.1e-27 |
PFAM |
|
low complexity region
|
717 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
763 |
N/A |
INTRINSIC |
|
Pfam:4_1_CTD
|
869 |
982 |
8.2e-59 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000092645
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
207 |
402 |
3.22e-76 |
SMART |
|
FERM_C
|
406 |
496 |
2.15e-39 |
SMART |
|
FA
|
499 |
545 |
1.93e-18 |
SMART |
|
low complexity region
|
555 |
567 |
N/A |
INTRINSIC |
|
Pfam:SAB
|
613 |
661 |
6.1e-27 |
PFAM |
|
low complexity region
|
717 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
763 |
N/A |
INTRINSIC |
|
Pfam:4_1_CTD
|
869 |
982 |
8.2e-59 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217929
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219138
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219805
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220121
|
| Meta Mutation Damage Score |
0.9490 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
99% (74/75) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430110L20Rik |
A |
G |
1: 181,054,979 (GRCm39) |
|
noncoding transcript |
Het |
| Actn2 |
T |
C |
13: 12,285,681 (GRCm39) |
I837V |
probably benign |
Het |
| Adora1 |
T |
A |
1: 134,130,901 (GRCm39) |
T257S |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,108,458 (GRCm39) |
M2954K |
possibly damaging |
Het |
| Akr1c13 |
G |
T |
13: 4,244,715 (GRCm39) |
A98S |
probably benign |
Het |
| Aldh2 |
C |
T |
5: 121,708,620 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,572,209 (GRCm39) |
N48D |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,889,701 (GRCm39) |
T527A |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,249,490 (GRCm39) |
V251A |
probably benign |
Het |
| Baz1a |
A |
T |
12: 54,969,835 (GRCm39) |
D608E |
probably damaging |
Het |
| Bend5 |
A |
T |
4: 111,311,280 (GRCm39) |
|
probably null |
Het |
| Blm |
T |
G |
7: 80,152,370 (GRCm39) |
T526P |
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,276,336 (GRCm39) |
V559A |
probably damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,325,752 (GRCm39) |
D1042G |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,705,759 (GRCm38) |
H212R |
possibly damaging |
Het |
| Cdh3 |
T |
C |
8: 107,263,269 (GRCm39) |
I106T |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Cfap68 |
T |
C |
9: 50,676,057 (GRCm39) |
N87S |
probably damaging |
Het |
| Col16a1 |
A |
T |
4: 129,986,898 (GRCm39) |
|
probably benign |
Het |
| Dctn6 |
C |
T |
8: 34,562,056 (GRCm39) |
V89I |
possibly damaging |
Het |
| Dgkz |
C |
A |
2: 91,766,168 (GRCm39) |
G798W |
possibly damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,328,344 (GRCm39) |
K805R |
possibly damaging |
Het |
| Fam89b |
G |
T |
19: 5,779,421 (GRCm39) |
Y45* |
probably null |
Het |
| Fchsd2 |
A |
G |
7: 100,920,781 (GRCm39) |
N462S |
possibly damaging |
Het |
| Fyco1 |
T |
G |
9: 123,658,568 (GRCm39) |
H536P |
probably damaging |
Het |
| Galnt12 |
A |
T |
4: 47,104,169 (GRCm39) |
E142D |
probably damaging |
Het |
| Gspt1 |
C |
T |
16: 11,071,719 (GRCm39) |
G48D |
probably benign |
Het |
| H6pd |
A |
G |
4: 150,067,322 (GRCm39) |
S355P |
probably damaging |
Het |
| Hectd2 |
T |
C |
19: 36,532,296 (GRCm39) |
V38A |
possibly damaging |
Het |
| Jup |
C |
T |
11: 100,267,607 (GRCm39) |
R572Q |
probably damaging |
Het |
| Kcng3 |
T |
C |
17: 83,938,434 (GRCm39) |
D205G |
probably benign |
Het |
| Kif13b |
A |
T |
14: 65,017,138 (GRCm39) |
|
probably null |
Het |
| Mapk3 |
A |
G |
7: 126,363,007 (GRCm39) |
D253G |
probably damaging |
Het |
| Methig1 |
A |
T |
15: 100,281,635 (GRCm39) |
Y253F |
possibly damaging |
Het |
| Mmp3 |
T |
C |
9: 7,449,904 (GRCm39) |
S263P |
probably damaging |
Het |
| Mpo |
T |
A |
11: 87,691,851 (GRCm39) |
|
probably null |
Het |
| Nbeal2 |
C |
A |
9: 110,466,588 (GRCm39) |
G772W |
possibly damaging |
Het |
| Nr1d1 |
T |
A |
11: 98,661,087 (GRCm39) |
H393L |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,942,437 (GRCm39) |
V4915A |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,472,545 (GRCm39) |
W19R |
probably damaging |
Het |
| Or13p4 |
T |
C |
4: 118,547,641 (GRCm39) |
T3A |
probably benign |
Het |
| Or56b1b |
C |
T |
7: 108,164,376 (GRCm39) |
A209T |
probably damaging |
Het |
| Padi6 |
G |
A |
4: 140,454,996 (GRCm39) |
T647I |
probably damaging |
Het |
| Pcyox1 |
A |
G |
6: 86,369,280 (GRCm39) |
L113S |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,704,052 (GRCm39) |
T192S |
probably benign |
Het |
| Pip4k2a |
T |
C |
2: 18,911,119 (GRCm39) |
H87R |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,393,684 (GRCm39) |
T2004N |
probably damaging |
Het |
| Prex1 |
CGTTGTTGTTGT |
CGTTGTTGTTGTTGT |
2: 166,417,573 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
C |
T |
6: 23,002,599 (GRCm39) |
T1563I |
probably damaging |
Het |
| Reg3b |
T |
C |
6: 78,350,215 (GRCm39) |
V165A |
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,115,320 (GRCm39) |
D893G |
probably benign |
Het |
| Sap18 |
A |
T |
14: 58,039,431 (GRCm39) |
M78L |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,493,508 (GRCm39) |
F1226I |
probably damaging |
Het |
| Scyl3 |
A |
T |
1: 163,782,245 (GRCm39) |
|
probably null |
Het |
| Shoc2 |
A |
G |
19: 53,976,556 (GRCm39) |
M149V |
probably benign |
Het |
| Slc7a2 |
G |
A |
8: 41,368,042 (GRCm39) |
R602K |
probably damaging |
Het |
| Sox30 |
A |
G |
11: 45,882,694 (GRCm39) |
I575V |
possibly damaging |
Het |
| Trim14 |
A |
T |
4: 46,507,134 (GRCm39) |
C361S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,731,272 (GRCm39) |
|
probably benign |
Het |
| Uncx |
A |
T |
5: 139,530,245 (GRCm39) |
K108* |
probably null |
Het |
| Usp54 |
A |
T |
14: 20,600,501 (GRCm39) |
L1412Q |
probably damaging |
Het |
| Uty |
A |
G |
Y: 1,245,614 (GRCm39) |
V6A |
possibly damaging |
Het |
| Vmn1r30 |
C |
T |
6: 58,412,029 (GRCm39) |
V268I |
probably benign |
Het |
| Wdsub1 |
T |
C |
2: 59,691,887 (GRCm39) |
|
probably benign |
Het |
| Wipf3 |
A |
G |
6: 54,458,896 (GRCm39) |
I84V |
probably benign |
Het |
| Xcr1 |
T |
A |
9: 123,685,631 (GRCm39) |
I44F |
probably benign |
Het |
| Zfp687 |
T |
C |
3: 94,916,586 (GRCm39) |
|
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,739,563 (GRCm39) |
S901T |
probably benign |
Het |
| Zhx1 |
A |
T |
15: 57,915,819 (GRCm39) |
M809K |
probably damaging |
Het |
| Zswim9 |
T |
C |
7: 12,994,753 (GRCm39) |
K468E |
possibly damaging |
Het |
|
| Other mutations in Epb41l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Epb41l2
|
APN |
10 |
25,377,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00826:Epb41l2
|
APN |
10 |
25,317,620 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01312:Epb41l2
|
APN |
10 |
25,317,485 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL02123:Epb41l2
|
APN |
10 |
25,336,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02448:Epb41l2
|
APN |
10 |
25,369,493 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0365:Epb41l2
|
UTSW |
10 |
25,345,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Epb41l2
|
UTSW |
10 |
25,319,668 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0826:Epb41l2
|
UTSW |
10 |
25,380,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0837:Epb41l2
|
UTSW |
10 |
25,383,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1243:Epb41l2
|
UTSW |
10 |
25,364,941 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1301:Epb41l2
|
UTSW |
10 |
25,319,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1560:Epb41l2
|
UTSW |
10 |
25,371,334 (GRCm39) |
splice site |
probably null |
|
|
R1752:Epb41l2
|
UTSW |
10 |
25,336,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1813:Epb41l2
|
UTSW |
10 |
25,317,466 (GRCm39) |
splice site |
probably null |
|
|
R1966:Epb41l2
|
UTSW |
10 |
25,317,666 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2276:Epb41l2
|
UTSW |
10 |
25,364,842 (GRCm39) |
unclassified |
probably benign |
|
|
R4425:Epb41l2
|
UTSW |
10 |
25,382,078 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4445:Epb41l2
|
UTSW |
10 |
25,319,701 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4621:Epb41l2
|
UTSW |
10 |
25,378,038 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4720:Epb41l2
|
UTSW |
10 |
25,347,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:Epb41l2
|
UTSW |
10 |
25,360,206 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5703:Epb41l2
|
UTSW |
10 |
25,317,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5896:Epb41l2
|
UTSW |
10 |
25,369,494 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5974:Epb41l2
|
UTSW |
10 |
25,317,713 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6073:Epb41l2
|
UTSW |
10 |
25,377,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Epb41l2
|
UTSW |
10 |
25,383,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Epb41l2
|
UTSW |
10 |
25,375,734 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6276:Epb41l2
|
UTSW |
10 |
25,378,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6321:Epb41l2
|
UTSW |
10 |
25,344,026 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6737:Epb41l2
|
UTSW |
10 |
25,364,916 (GRCm39) |
splice site |
probably null |
|
|
R6766:Epb41l2
|
UTSW |
10 |
25,348,990 (GRCm39) |
nonsense |
probably null |
|
|
R6834:Epb41l2
|
UTSW |
10 |
25,369,502 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7023:Epb41l2
|
UTSW |
10 |
25,388,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7258:Epb41l2
|
UTSW |
10 |
25,360,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7688:Epb41l2
|
UTSW |
10 |
25,355,036 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7769:Epb41l2
|
UTSW |
10 |
25,369,471 (GRCm39) |
missense |
probably benign |
|
|
R7796:Epb41l2
|
UTSW |
10 |
25,319,727 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8365:Epb41l2
|
UTSW |
10 |
25,317,584 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8490:Epb41l2
|
UTSW |
10 |
25,380,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8676:Epb41l2
|
UTSW |
10 |
25,319,674 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8744:Epb41l2
|
UTSW |
10 |
25,317,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Epb41l2
|
UTSW |
10 |
25,355,653 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9650:Epb41l2
|
UTSW |
10 |
25,369,495 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9665:Epb41l2
|
UTSW |
10 |
25,317,798 (GRCm39) |
missense |
probably benign |
|
|
R9707:Epb41l2
|
UTSW |
10 |
25,378,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Epb41l2
|
UTSW |
10 |
25,375,800 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Epb41l2
|
UTSW |
10 |
25,317,618 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Epb41l2
|
UTSW |
10 |
25,355,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACATTTCATATGCACACGAGAGC -3'
(R):5'- CTCTGCATGCAAAACAGGAC -3'
Sequencing Primer
(F):5'- TATGCACACGAGAGCACATG -3'
(R):5'- AGGACCAGCACCCTATTCTATGTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation