Incidental Mutation 'IGL02123:Epb41l2'
| ID |
280710 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.308)
|
| Stock # |
IGL02123
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
25235696-25399417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25336742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 246
(L246H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053748]
[ENSMUST00000092645]
[ENSMUST00000217929]
[ENSMUST00000218903]
[ENSMUST00000219805]
[ENSMUST00000219900]
|
| AlphaFold |
O70318 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053748
AA Change: L246H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: L246H
| 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: L246H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: L246H
| 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 damaging
Transcript: ENSMUST00000217929
AA Change: L246H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218903
AA Change: L246H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219805
AA Change: L246H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219900
AA Change: L246H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220121
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 |
|---|
| Acp7 |
T |
C |
7: 28,328,914 (GRCm39) |
T31A |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Ampd3 |
T |
C |
7: 110,401,766 (GRCm39) |
V429A |
possibly damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cldn11 |
C |
T |
3: 31,204,336 (GRCm39) |
T13M |
probably benign |
Het |
| Cngb3 |
C |
A |
4: 19,367,801 (GRCm39) |
Q237K |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,569,740 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
A |
1: 171,939,695 (GRCm39) |
L621H |
probably damaging |
Het |
| Dbn1 |
T |
C |
13: 55,624,553 (GRCm39) |
D332G |
possibly damaging |
Het |
| Drc1 |
T |
C |
5: 30,504,448 (GRCm39) |
S197P |
probably benign |
Het |
| E2f2 |
A |
G |
4: 135,900,159 (GRCm39) |
N23S |
probably benign |
Het |
| Fam13b |
G |
A |
18: 34,578,671 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
A |
G |
5: 45,796,493 (GRCm39) |
M30T |
possibly damaging |
Het |
| Fn3krp |
G |
A |
11: 121,320,270 (GRCm39) |
R205H |
probably benign |
Het |
| Fndc11 |
A |
G |
2: 180,863,443 (GRCm39) |
I83V |
probably benign |
Het |
| Garin2 |
T |
C |
12: 78,780,981 (GRCm39) |
|
probably null |
Het |
| Gm3629 |
C |
T |
14: 17,834,541 (GRCm39) |
R150H |
probably benign |
Het |
| Hs6st1 |
T |
A |
1: 36,142,952 (GRCm39) |
F296I |
possibly damaging |
Het |
| Igsf10 |
T |
A |
3: 59,226,081 (GRCm39) |
I2531F |
probably damaging |
Het |
| Klhl40 |
T |
C |
9: 121,608,989 (GRCm39) |
F385L |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,385,466 (GRCm39) |
M302K |
possibly damaging |
Het |
| Lrrc43 |
A |
T |
5: 123,632,342 (GRCm39) |
I162F |
probably damaging |
Het |
| Map3k21 |
A |
G |
8: 126,652,849 (GRCm39) |
E325G |
probably damaging |
Het |
| Mpo |
A |
T |
11: 87,685,621 (GRCm39) |
N33I |
probably benign |
Het |
| Mpp4 |
A |
G |
1: 59,200,625 (GRCm39) |
|
probably null |
Het |
| Muc5b |
C |
T |
7: 141,417,494 (GRCm39) |
T3480I |
possibly damaging |
Het |
| Myo6 |
T |
C |
9: 80,171,554 (GRCm39) |
|
probably benign |
Het |
| Nostrin |
C |
T |
2: 68,986,453 (GRCm39) |
|
probably benign |
Het |
| Nphp1 |
T |
C |
2: 127,595,969 (GRCm39) |
M498V |
probably benign |
Het |
| Nr4a2 |
A |
T |
2: 57,001,667 (GRCm39) |
L199Q |
possibly damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,468,873 (GRCm39) |
N598I |
probably damaging |
Het |
| Pex19 |
T |
A |
1: 171,961,853 (GRCm39) |
M207K |
probably damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Plekha2 |
T |
C |
8: 25,532,745 (GRCm39) |
K409E |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,476,691 (GRCm39) |
L1169P |
probably damaging |
Het |
| Pmpcb |
A |
G |
5: 21,948,373 (GRCm39) |
|
probably benign |
Het |
| Ptrh1 |
T |
C |
2: 32,666,826 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
T |
C |
2: 37,288,265 (GRCm39) |
E439G |
probably damaging |
Het |
| Ric1 |
C |
T |
19: 29,572,200 (GRCm39) |
A665V |
probably benign |
Het |
| Stx18 |
T |
A |
5: 38,285,447 (GRCm39) |
V219D |
probably damaging |
Het |
| Taf7 |
A |
T |
18: 37,775,533 (GRCm39) |
|
probably benign |
Het |
| Tbc1d8 |
A |
G |
1: 39,415,988 (GRCm39) |
I895T |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,419,317 (GRCm39) |
S766P |
probably damaging |
Het |
| Tekt3 |
C |
A |
11: 62,974,766 (GRCm39) |
H362N |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Tmem94 |
T |
C |
11: 115,678,364 (GRCm39) |
S196P |
possibly damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,367,933 (GRCm39) |
Y353C |
probably damaging |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Vmn2r90 |
T |
G |
17: 17,953,744 (GRCm39) |
M636R |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,300,941 (GRCm39) |
C648S |
probably damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,965,591 (GRCm39) |
C560Y |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation