Incidental Mutation 'R6073:Epb41l2'
| ID |
482589 |
| 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 |
044234-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R6073 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
25235696-25399417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 25377730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 597
(H597Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053748]
[ENSMUST00000092645]
[ENSMUST00000217929]
[ENSMUST00000217943]
[ENSMUST00000218903]
[ENSMUST00000220290]
|
| AlphaFold |
O70318 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053748
AA Change: H667Q
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: H667Q
| 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
AA Change: H667Q
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: H667Q
| 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 |
possibly damaging
Transcript: ENSMUST00000217929
AA Change: H597Q
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217943
AA Change: H114Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218345
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218903
AA Change: H597Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219941
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219138
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220335
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (57/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb2 |
A |
T |
18: 62,312,537 (GRCm39) |
M96K |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,143,668 (GRCm39) |
|
probably null |
Het |
| Bnip5 |
A |
T |
17: 29,123,597 (GRCm39) |
V367D |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,513,223 (GRCm39) |
G183R |
probably null |
Het |
| Cad |
A |
G |
5: 31,219,906 (GRCm39) |
T753A |
possibly damaging |
Het |
| Cc2d2a |
C |
T |
5: 43,887,317 (GRCm39) |
T1249M |
probably damaging |
Het |
| Cd74 |
G |
A |
18: 60,944,558 (GRCm39) |
|
probably null |
Het |
| Cenpc1 |
A |
G |
5: 86,206,012 (GRCm39) |
|
probably null |
Het |
| Cenpe |
T |
A |
3: 134,965,834 (GRCm39) |
L2104* |
probably null |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,232 (GRCm39) |
I542T |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,448,368 (GRCm39) |
D97G |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,896,274 (GRCm39) |
D3546G |
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,361,881 (GRCm39) |
V214I |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Erbin |
G |
A |
13: 103,981,429 (GRCm39) |
Q499* |
probably null |
Het |
| Erc2 |
A |
T |
14: 27,733,593 (GRCm39) |
I556F |
probably benign |
Het |
| Fscn2 |
G |
T |
11: 120,252,613 (GRCm39) |
E27* |
probably null |
Het |
| Fsd1l |
A |
G |
4: 53,679,994 (GRCm39) |
T231A |
probably damaging |
Het |
| G6pc1 |
T |
A |
11: 101,258,802 (GRCm39) |
N60K |
probably benign |
Het |
| Gm43302 |
A |
G |
5: 105,438,825 (GRCm39) |
V21A |
probably damaging |
Het |
| Heatr3 |
G |
T |
8: 88,864,768 (GRCm39) |
A41S |
probably benign |
Het |
| Hrct1 |
T |
C |
4: 43,727,543 (GRCm39) |
|
probably benign |
Het |
| Ihh |
T |
C |
1: 74,990,438 (GRCm39) |
|
probably benign |
Het |
| Jph3 |
A |
T |
8: 122,480,291 (GRCm39) |
Y323F |
probably damaging |
Het |
| Kcnj5 |
T |
C |
9: 32,229,096 (GRCm39) |
D34G |
probably damaging |
Het |
| Magi2 |
G |
A |
5: 20,774,286 (GRCm39) |
E231K |
probably damaging |
Het |
| Muc5b |
A |
C |
7: 141,412,025 (GRCm39) |
Y1657S |
unknown |
Het |
| Muc5b |
G |
A |
7: 141,402,797 (GRCm39) |
C667Y |
unknown |
Het |
| Myo10 |
G |
A |
15: 25,736,728 (GRCm39) |
C459Y |
probably damaging |
Het |
| Nemp1 |
A |
G |
10: 127,525,112 (GRCm39) |
K40E |
probably benign |
Het |
| Nipsnap1 |
T |
C |
11: 4,838,895 (GRCm39) |
F107S |
possibly damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,698,677 (GRCm39) |
|
probably null |
Het |
| Pabpc1 |
A |
G |
15: 36,600,895 (GRCm39) |
I305T |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,145,716 (GRCm39) |
F2736S |
probably damaging |
Het |
| Pnldc1 |
T |
C |
17: 13,109,250 (GRCm39) |
Y450C |
probably null |
Het |
| Polr2g |
A |
T |
19: 8,774,673 (GRCm39) |
V70E |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,424,838 (GRCm39) |
I202V |
probably damaging |
Het |
| Prpf8 |
T |
C |
11: 75,384,848 (GRCm39) |
|
probably null |
Het |
| Rfxap |
T |
C |
3: 54,714,708 (GRCm39) |
Y130C |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,949,861 (GRCm39) |
E20G |
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,871,772 (GRCm39) |
D389G |
possibly damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,303,101 (GRCm39) |
H496R |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,680,300 (GRCm39) |
V420M |
probably damaging |
Het |
| Spata13 |
C |
T |
14: 60,987,470 (GRCm39) |
T876I |
probably damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,850,808 (GRCm39) |
N440I |
probably damaging |
Het |
| Tdrd1 |
G |
T |
19: 56,831,655 (GRCm39) |
E349* |
probably null |
Het |
| Tie1 |
A |
G |
4: 118,339,587 (GRCm39) |
V398A |
probably benign |
Het |
| Tmem255b |
T |
A |
8: 13,506,958 (GRCm39) |
L229Q |
probably damaging |
Het |
| Tmem59 |
T |
A |
4: 107,050,598 (GRCm39) |
|
probably null |
Het |
| Trim3 |
G |
A |
7: 105,266,746 (GRCm39) |
R479C |
probably damaging |
Het |
| Ucp2 |
G |
A |
7: 100,147,338 (GRCm39) |
V131M |
possibly damaging |
Het |
| Vars1 |
A |
G |
17: 35,220,505 (GRCm39) |
D29G |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,184 (GRCm39) |
K343R |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,207,019 (GRCm39) |
K1085E |
possibly damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp963 |
A |
T |
8: 70,195,853 (GRCm39) |
C86* |
probably null |
Het |
| Zfp977 |
A |
G |
7: 42,230,165 (GRCm39) |
I120T |
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 |
|
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'- AGGGACGCTGTTAAGGTTCTC -3'
(R):5'- CTTATGGTGCCCTCGGTCAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation