Incidental Mutation 'R6229:Epb41l2'
| ID |
504566 |
| 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 |
044358-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R6229 (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 G
at 25375734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 58
(K58E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053748]
[ENSMUST00000092645]
[ENSMUST00000217929]
[ENSMUST00000217943]
[ENSMUST00000218903]
[ENSMUST00000220290]
|
| AlphaFold |
O70318 |
| Predicted Effect |
probably benign
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000217844
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217929
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217943
AA Change: K58E
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218345
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219941
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220290
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219138
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
99% (69/70) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
A |
1: 120,099,213 (GRCm39) |
|
probably null |
Het |
| Adamts6 |
G |
A |
13: 104,483,900 (GRCm39) |
|
probably null |
Het |
| Add3 |
C |
A |
19: 53,223,277 (GRCm39) |
A343D |
probably benign |
Het |
| Ankub1 |
T |
C |
3: 57,572,528 (GRCm39) |
D398G |
probably benign |
Het |
| Apbb1 |
C |
T |
7: 105,222,937 (GRCm39) |
A225T |
probably damaging |
Het |
| Apbb1 |
C |
A |
7: 105,222,938 (GRCm39) |
W224C |
probably damaging |
Het |
| Arhgef40 |
A |
T |
14: 52,227,547 (GRCm39) |
Q431L |
probably benign |
Het |
| Calm4 |
A |
G |
13: 3,888,038 (GRCm39) |
D48G |
possibly damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,319,484 (GRCm39) |
I502L |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,220,683 (GRCm39) |
S185P |
probably damaging |
Het |
| Chd2 |
C |
A |
7: 73,101,471 (GRCm39) |
K1418N |
possibly damaging |
Het |
| Cmya5 |
A |
C |
13: 93,229,814 (GRCm39) |
V1758G |
probably benign |
Het |
| Cpsf4l |
T |
C |
11: 113,599,680 (GRCm39) |
K35R |
possibly damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,727,622 (GRCm39) |
V119E |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnah3 |
G |
T |
7: 119,564,711 (GRCm39) |
Q2651K |
probably benign |
Het |
| Eif4g2 |
T |
C |
7: 110,676,920 (GRCm39) |
|
probably null |
Het |
| Enc1 |
A |
G |
13: 97,381,999 (GRCm39) |
R170G |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,741,228 (GRCm39) |
R357G |
probably damaging |
Het |
| Fis1 |
A |
G |
5: 136,994,528 (GRCm39) |
|
probably null |
Het |
| Fmo9 |
A |
C |
1: 166,505,126 (GRCm39) |
M89R |
possibly damaging |
Het |
| Gm6096 |
A |
C |
7: 33,950,676 (GRCm39) |
I72L |
possibly damaging |
Het |
| Golga5 |
G |
A |
12: 102,450,740 (GRCm39) |
M464I |
probably benign |
Het |
| Got1l1 |
T |
C |
8: 27,688,464 (GRCm39) |
|
probably null |
Het |
| Ift56 |
T |
A |
6: 38,371,975 (GRCm39) |
N188K |
probably benign |
Het |
| Igfbpl1 |
A |
G |
4: 45,813,517 (GRCm39) |
Y233H |
probably damaging |
Het |
| Il18r1 |
T |
C |
1: 40,513,923 (GRCm39) |
I43T |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,252,891 (GRCm39) |
N64D |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 33,875,441 (GRCm39) |
S44P |
probably damaging |
Het |
| Kif13b |
G |
T |
14: 64,976,016 (GRCm39) |
G444W |
probably damaging |
Het |
| Lmo1 |
A |
G |
7: 108,742,832 (GRCm39) |
C13R |
probably damaging |
Het |
| Lrfn2 |
T |
A |
17: 49,404,160 (GRCm39) |
M761K |
possibly damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,913,887 (GRCm39) |
I719T |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,974,015 (GRCm39) |
V1423E |
probably damaging |
Het |
| Mbnl1 |
T |
A |
3: 60,528,749 (GRCm39) |
|
probably null |
Het |
| Mrps28 |
T |
C |
3: 8,965,097 (GRCm39) |
D114G |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,792 (GRCm39) |
M1412L |
probably benign |
Het |
| Myf6 |
T |
C |
10: 107,330,280 (GRCm39) |
K96E |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,197,162 (GRCm39) |
V462A |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,287,524 (GRCm39) |
S923P |
possibly damaging |
Het |
| Nckap1l |
T |
C |
15: 103,381,549 (GRCm39) |
L430P |
possibly damaging |
Het |
| Nfatc2ip |
C |
T |
7: 125,995,113 (GRCm39) |
|
probably null |
Het |
| Or11g24 |
A |
G |
14: 50,662,662 (GRCm39) |
R229G |
probably benign |
Het |
| Or12e10 |
G |
T |
2: 87,640,431 (GRCm39) |
C89F |
probably damaging |
Het |
| Or2w4 |
T |
C |
13: 21,795,819 (GRCm39) |
I107V |
probably benign |
Het |
| Or7g33 |
T |
A |
9: 19,449,014 (GRCm39) |
I71F |
possibly damaging |
Het |
| Plin2 |
A |
G |
4: 86,586,903 (GRCm39) |
V5A |
probably benign |
Het |
| Pramel31 |
T |
C |
4: 144,090,199 (GRCm39) |
M413T |
probably benign |
Het |
| Ptprm |
T |
A |
17: 66,995,295 (GRCm39) |
D1311V |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,821,540 (GRCm39) |
I72N |
probably damaging |
Het |
| Sall2 |
A |
T |
14: 52,550,648 (GRCm39) |
M847K |
probably benign |
Het |
| Slc23a1 |
T |
C |
18: 35,752,577 (GRCm39) |
R567G |
probably benign |
Het |
| Slc28a1 |
G |
A |
7: 80,774,753 (GRCm39) |
R200H |
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,937,580 (GRCm39) |
Y843* |
probably null |
Het |
| Syne2 |
C |
A |
12: 75,967,994 (GRCm39) |
Q915K |
probably benign |
Het |
| Tas2r131 |
T |
A |
6: 132,933,985 (GRCm39) |
I275F |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,739,081 (GRCm39) |
H790R |
probably damaging |
Het |
| Tm7sf3 |
A |
G |
6: 146,514,887 (GRCm39) |
F310S |
possibly damaging |
Het |
| Tmem9b |
T |
A |
7: 109,344,627 (GRCm39) |
|
probably null |
Het |
| Tnfaip8 |
A |
G |
18: 50,184,742 (GRCm39) |
|
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,838 (GRCm38) |
L835R |
probably damaging |
Het |
| Trappc8 |
A |
T |
18: 21,003,802 (GRCm39) |
S209T |
probably benign |
Het |
| Uap1 |
C |
T |
1: 169,994,302 (GRCm39) |
R58Q |
probably benign |
Het |
| Upk3bl |
A |
G |
5: 136,092,915 (GRCm39) |
|
probably null |
Het |
| Usp34 |
A |
G |
11: 23,396,778 (GRCm39) |
H596R |
probably damaging |
Het |
| Vmn1r181 |
C |
T |
7: 23,683,580 (GRCm39) |
A15V |
probably damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,365,883 (GRCm39) |
K350N |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,178 (GRCm39) |
H176R |
probably benign |
Het |
| Vwa7 |
A |
G |
17: 35,243,241 (GRCm39) |
R640G |
probably benign |
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 |
|
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'- CAGGCAAGCCTTCACTTTCG -3'
(R):5'- CAGAATGAAAACCCGTCTCATG -3'
Sequencing Primer
(F):5'- CATCTTTGCTTTCATTGGATGCTG -3'
(R):5'- AAACCCGTCTCATGAGCTTTCAGTAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation