Incidental Mutation 'R8490:Epb41l2'
| ID |
657954 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R8490 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
25235696-25399417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25380128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 884
(T884S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053748]
[ENSMUST00000092645]
[ENSMUST00000217929]
[ENSMUST00000217943]
[ENSMUST00000218903]
[ENSMUST00000220290]
|
| AlphaFold |
O70318 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053748
AA Change: T884S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: T884S
| 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 damaging
Transcript: ENSMUST00000092645
AA Change: T884S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: T884S
| 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 benign
Transcript: ENSMUST00000217929
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217943
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218903
AA Change: T814S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219372
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220290
AA Change: T130S
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (52/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
G |
1: 71,323,256 (GRCm39) |
K1609Q |
probably damaging |
Het |
| Arl5a |
A |
G |
2: 52,314,614 (GRCm39) |
F12L |
probably benign |
Het |
| Armc9 |
C |
T |
1: 86,202,125 (GRCm39) |
T761I |
probably benign |
Het |
| Bmp1 |
A |
G |
14: 70,727,573 (GRCm39) |
F670S |
possibly damaging |
Het |
| Cd34 |
T |
C |
1: 194,621,281 (GRCm39) |
V3A |
probably benign |
Het |
| Cdkn2a |
A |
T |
4: 89,212,759 (GRCm39) |
M1K |
probably null |
Het |
| Cep135 |
C |
A |
5: 76,786,054 (GRCm39) |
H1052Q |
probably benign |
Het |
| Cfap100 |
T |
C |
6: 90,390,721 (GRCm39) |
|
probably benign |
Het |
| Cib4 |
A |
T |
5: 30,703,075 (GRCm39) |
Y17N |
probably damaging |
Het |
| Col3a1 |
T |
G |
1: 45,385,116 (GRCm39) |
S78A |
probably benign |
Het |
| Crebzf |
A |
G |
7: 90,092,706 (GRCm39) |
M162V |
probably benign |
Het |
| Dbx2 |
T |
A |
15: 95,552,454 (GRCm39) |
M64L |
possibly damaging |
Het |
| Erich3 |
T |
A |
3: 154,401,461 (GRCm39) |
S37T |
|
Het |
| Eya1 |
G |
T |
1: 14,254,899 (GRCm39) |
Q383K |
possibly damaging |
Het |
| Gm15130 |
A |
T |
2: 110,983,230 (GRCm39) |
|
probably null |
Het |
| Ido1 |
A |
T |
8: 25,086,954 (GRCm39) |
M1K |
probably null |
Het |
| Loxhd1 |
C |
T |
18: 77,529,162 (GRCm39) |
T1069M |
possibly damaging |
Het |
| Lrrtm2 |
T |
G |
18: 35,346,451 (GRCm39) |
|
probably null |
Het |
| Map1a |
C |
T |
2: 121,135,045 (GRCm39) |
H1716Y |
possibly damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,446,267 (GRCm39) |
T1854S |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,255,351 (GRCm39) |
S1574P |
probably damaging |
Het |
| Neu1 |
G |
A |
17: 35,150,982 (GRCm39) |
A78T |
probably benign |
Het |
| Nfam1 |
T |
C |
15: 82,907,238 (GRCm39) |
|
probably benign |
Het |
| Or1e27-ps1 |
T |
A |
11: 73,555,675 (GRCm39) |
L80Q |
probably damaging |
Het |
| Or4c10b |
A |
C |
2: 89,711,511 (GRCm39) |
T114P |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,384,027 (GRCm39) |
M147K |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,331,329 (GRCm39) |
|
probably null |
Het |
| Ptgfrn |
A |
T |
3: 100,963,686 (GRCm39) |
M642K |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,162,864 (GRCm39) |
H980Q |
probably benign |
Het |
| Rfc2 |
C |
A |
5: 134,611,698 (GRCm39) |
S19* |
probably null |
Het |
| Rhbdf1 |
C |
A |
11: 32,160,162 (GRCm39) |
S738I |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,001,011 (GRCm39) |
N1488K |
probably damaging |
Het |
| Rnf31 |
G |
A |
14: 55,833,566 (GRCm39) |
V525I |
probably damaging |
Het |
| Rps27a |
T |
C |
11: 29,496,719 (GRCm39) |
D58G |
probably benign |
Het |
| Serpinc1 |
T |
G |
1: 160,817,028 (GRCm39) |
C41G |
probably damaging |
Het |
| Siglece |
A |
T |
7: 43,309,486 (GRCm39) |
V24D |
probably benign |
Het |
| Sparcl1 |
T |
A |
5: 104,233,574 (GRCm39) |
R592W |
probably null |
Het |
| Stard13 |
A |
G |
5: 150,987,090 (GRCm39) |
S104P |
probably damaging |
Het |
| Ston2 |
A |
G |
12: 91,614,905 (GRCm39) |
V501A |
possibly damaging |
Het |
| Sv2b |
C |
A |
7: 74,855,833 (GRCm39) |
|
probably null |
Het |
| Tiam1 |
T |
C |
16: 89,681,932 (GRCm39) |
R349G |
probably damaging |
Het |
| Tmprss11g |
A |
G |
5: 86,639,976 (GRCm39) |
|
probably null |
Het |
| Tnik |
G |
T |
3: 28,650,321 (GRCm39) |
R507L |
probably damaging |
Het |
| Trabd2b |
G |
T |
4: 114,460,113 (GRCm39) |
S417I |
probably damaging |
Het |
| Ube2q1 |
T |
A |
3: 89,681,308 (GRCm39) |
V97E |
probably benign |
Het |
| Vim |
A |
T |
2: 13,584,265 (GRCm39) |
N306Y |
probably damaging |
Het |
| Vmn1r216 |
G |
T |
13: 23,283,979 (GRCm39) |
A221S |
possibly damaging |
Het |
| Vmn2r113 |
G |
A |
17: 23,177,372 (GRCm39) |
A719T |
probably benign |
Het |
| Vmn2r66 |
A |
G |
7: 84,654,794 (GRCm39) |
|
probably null |
Het |
| Vps45 |
T |
C |
3: 95,948,661 (GRCm39) |
S365G |
probably benign |
Het |
| Zzz3 |
T |
A |
3: 152,134,290 (GRCm39) |
C449* |
probably null |
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 |
|
R5408:Epb41l2
|
UTSW |
10 |
25,343,992 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
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'- CCACTGTGTTAGCTTAGCTTAGC -3'
(R):5'- AGAGCTAGTCACAGTGTTGGG -3'
Sequencing Primer
(F):5'- ACTCTGACTTTCCATGCATGAATG -3'
(R):5'- TCACAGTGTTGGGACAGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation