Incidental Mutation 'R4425:Epb41l2'
| ID |
328115 |
| 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 |
041144-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R4425 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
25235696-25399417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25382078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 701
(D701E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151875
(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: D895E
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: D895E
| 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: D895E
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: D895E
| 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: D701E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218345
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218903
AA Change: D825E
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219372
AA Change: D37E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219138
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219201
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220290
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (55/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,236,870 (GRCm39) |
T1456A |
probably damaging |
Het |
| Acad11 |
T |
C |
9: 103,950,844 (GRCm39) |
F56S |
probably damaging |
Het |
| Adamts8 |
A |
G |
9: 30,867,952 (GRCm39) |
N592S |
possibly damaging |
Het |
| Amh |
A |
G |
10: 80,642,755 (GRCm39) |
D313G |
probably damaging |
Het |
| Ampd2 |
T |
C |
3: 107,994,052 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
A |
G |
18: 38,111,653 (GRCm39) |
L1115P |
probably damaging |
Het |
| Arfgap1 |
C |
A |
2: 180,622,869 (GRCm39) |
D327E |
probably benign |
Het |
| Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
| Cd163 |
T |
C |
6: 124,304,862 (GRCm39) |
S1080P |
possibly damaging |
Het |
| Ceacam10 |
A |
T |
7: 24,480,433 (GRCm39) |
Y68F |
possibly damaging |
Het |
| Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,028,613 (GRCm39) |
Y688* |
probably null |
Het |
| Chrnb1 |
A |
T |
11: 69,677,773 (GRCm39) |
S326R |
probably damaging |
Het |
| Cngb1 |
C |
T |
8: 96,026,344 (GRCm39) |
V25M |
probably damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,136 (GRCm39) |
N160Y |
possibly damaging |
Het |
| Dalrd3 |
T |
C |
9: 108,448,800 (GRCm39) |
|
probably benign |
Het |
| Eef1d |
C |
A |
15: 75,774,648 (GRCm39) |
S253I |
possibly damaging |
Het |
| Efl1 |
G |
A |
7: 82,412,491 (GRCm39) |
C960Y |
probably damaging |
Het |
| Elmo1 |
C |
G |
13: 20,784,382 (GRCm39) |
Y646* |
probably null |
Het |
| Fbxl4 |
T |
A |
4: 22,422,699 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
| Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv10-95 |
A |
T |
6: 68,657,606 (GRCm39) |
I21F |
probably damaging |
Het |
| Il10rb |
C |
A |
16: 91,204,603 (GRCm39) |
N51K |
possibly damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,849,273 (GRCm39) |
S998P |
probably benign |
Het |
| Lrrc8c |
T |
A |
5: 105,755,755 (GRCm39) |
M510K |
probably benign |
Het |
| Nfrkb |
G |
T |
9: 31,311,258 (GRCm39) |
C369F |
probably damaging |
Het |
| Nphp1 |
T |
C |
2: 127,630,719 (GRCm39) |
E19G |
possibly damaging |
Het |
| Or10a5 |
A |
C |
7: 106,635,698 (GRCm39) |
E112A |
probably damaging |
Het |
| Or4f14b |
T |
C |
2: 111,775,534 (GRCm39) |
H89R |
probably benign |
Het |
| Ovol3 |
A |
T |
7: 29,934,789 (GRCm39) |
|
probably null |
Het |
| Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,301,320 (GRCm39) |
|
probably null |
Het |
| Sh3rf3 |
T |
C |
10: 58,919,398 (GRCm39) |
V505A |
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,042,727 (GRCm39) |
N570S |
probably benign |
Het |
| Slc35f4 |
C |
T |
14: 49,556,307 (GRCm39) |
V149I |
possibly damaging |
Het |
| Snx27 |
A |
G |
3: 94,469,330 (GRCm39) |
F4L |
probably benign |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Tagap1 |
G |
A |
17: 7,223,511 (GRCm39) |
S395L |
probably benign |
Het |
| Tcstv2b |
C |
A |
13: 120,373,908 (GRCm39) |
L127F |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,751,904 (GRCm39) |
T1014A |
probably damaging |
Het |
| Top2a |
A |
G |
11: 98,892,231 (GRCm39) |
I1077T |
probably benign |
Het |
| Tpo |
T |
C |
12: 30,154,015 (GRCm39) |
Y230C |
probably damaging |
Het |
| Trav12-2 |
A |
G |
14: 53,854,332 (GRCm39) |
Q102R |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,733,430 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
T |
7: 23,754,973 (GRCm39) |
I259F |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,996,861 (GRCm39) |
E219G |
probably damaging |
Het |
| Vsig8 |
G |
T |
1: 172,390,714 (GRCm39) |
G254V |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,320,246 (GRCm39) |
I1086V |
probably benign |
Het |
| Zfp423 |
G |
A |
8: 88,509,601 (GRCm39) |
H123Y |
probably damaging |
Het |
| Zfp811 |
A |
T |
17: 33,016,521 (GRCm39) |
C506* |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGTCAGCTGCTCTCTGG -3'
(R):5'- AAGGGCACTTCAGTCCACTG -3'
Sequencing Primer
(F):5'- AGCTGCTCTCTGGACCATGAAC -3'
(R):5'- AGTCCACTGGCACTGTCTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation