Incidental Mutation 'R1301:Epb41l2'
| ID |
158376 |
| 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 |
039367-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R1301 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
25235696-25399417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25319800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 211
(V211D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053748]
[ENSMUST00000092645]
[ENSMUST00000217929]
[ENSMUST00000218903]
[ENSMUST00000219166]
[ENSMUST00000219224]
[ENSMUST00000219805]
[ENSMUST00000219900]
[ENSMUST00000219967]
|
| AlphaFold |
O70318 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053748
AA Change: V211D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: V211D
| 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: V211D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: V211D
| 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: V211D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218903
AA Change: V211D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219166
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219224
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219805
AA Change: V211D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219900
AA Change: V211D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220121
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219967
|
| Meta Mutation Damage Score |
0.3813 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.3%
- 20x: 82.6%
|
| Validation Efficiency |
96% (67/70) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
A |
4: 144,291,635 (GRCm39) |
I24L |
probably benign |
Het |
| Ano1 |
A |
G |
7: 144,187,426 (GRCm39) |
W447R |
possibly damaging |
Het |
| Blm |
T |
A |
7: 80,105,165 (GRCm39) |
K103* |
probably null |
Het |
| Camta2 |
A |
G |
11: 70,567,230 (GRCm39) |
I675T |
probably benign |
Het |
| Catsperz |
G |
A |
19: 6,902,450 (GRCm39) |
R15C |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,510,964 (GRCm39) |
|
probably benign |
Het |
| Corin |
C |
A |
5: 72,462,276 (GRCm39) |
E844D |
possibly damaging |
Het |
| Cyb5rl |
T |
G |
4: 106,938,104 (GRCm39) |
M127R |
probably damaging |
Het |
| Dcdc2a |
A |
T |
13: 25,286,569 (GRCm39) |
N164I |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 73,185,528 (GRCm39) |
|
probably null |
Het |
| Emilin2 |
T |
C |
17: 71,562,960 (GRCm39) |
|
probably benign |
Het |
| Fbxo47 |
C |
T |
11: 97,759,427 (GRCm39) |
M166I |
probably benign |
Het |
| Golm1 |
T |
C |
13: 59,786,187 (GRCm39) |
D335G |
probably damaging |
Het |
| Gpn1 |
T |
A |
5: 31,660,773 (GRCm39) |
M188K |
probably damaging |
Het |
| Gpr84 |
T |
A |
15: 103,217,646 (GRCm39) |
S144C |
probably damaging |
Het |
| Grm8 |
G |
T |
6: 27,981,200 (GRCm39) |
Q237K |
possibly damaging |
Het |
| Gsdmd |
C |
A |
15: 75,738,908 (GRCm39) |
|
probably null |
Het |
| Hmgcr |
G |
A |
13: 96,795,528 (GRCm39) |
T347I |
probably damaging |
Het |
| Hsd17b7 |
T |
A |
1: 169,788,774 (GRCm39) |
|
probably benign |
Het |
| Hsd3b9 |
G |
A |
3: 98,354,182 (GRCm39) |
Q106* |
probably null |
Het |
| Klhl7 |
T |
G |
5: 24,364,489 (GRCm39) |
W508G |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,258,948 (GRCm39) |
D4581Y |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,840,968 (GRCm39) |
N1357D |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,380,451 (GRCm39) |
|
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,577,692 (GRCm39) |
T329A |
probably damaging |
Het |
| Mroh9 |
C |
T |
1: 162,871,552 (GRCm39) |
|
probably null |
Het |
| Mta2 |
A |
G |
19: 8,926,550 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,271,906 (GRCm39) |
|
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,384,352 (GRCm39) |
D153G |
probably benign |
Het |
| Nup133 |
T |
C |
8: 124,644,156 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
C |
T |
6: 91,019,329 (GRCm39) |
V259M |
possibly damaging |
Het |
| Or10ak14 |
C |
T |
4: 118,610,816 (GRCm39) |
M308I |
probably benign |
Het |
| Or5b112 |
A |
T |
19: 13,319,211 (GRCm39) |
I30F |
probably benign |
Het |
| Or9i14 |
A |
T |
19: 13,792,726 (GRCm39) |
V76D |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,939,113 (GRCm39) |
R2048C |
probably damaging |
Het |
| Pacc1 |
T |
C |
1: 191,080,632 (GRCm39) |
V284A |
probably damaging |
Het |
| Paqr7 |
T |
C |
4: 134,235,124 (GRCm39) |
L327P |
probably damaging |
Het |
| Parl |
A |
G |
16: 20,105,676 (GRCm39) |
S249P |
probably damaging |
Het |
| Phc1 |
A |
G |
6: 122,302,833 (GRCm39) |
I230T |
probably benign |
Het |
| Pitpnm1 |
T |
G |
19: 4,160,831 (GRCm39) |
|
probably null |
Het |
| Plpp1 |
A |
G |
13: 112,971,477 (GRCm39) |
Y48C |
probably damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,812,870 (GRCm39) |
F194L |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,416,159 (GRCm39) |
V1651D |
possibly damaging |
Het |
| Serpinb1c |
T |
A |
13: 33,080,943 (GRCm39) |
R47* |
probably null |
Het |
| Sis |
T |
C |
3: 72,853,915 (GRCm39) |
T521A |
possibly damaging |
Het |
| Slc16a9 |
A |
G |
10: 70,118,308 (GRCm39) |
D209G |
probably benign |
Het |
| Slc26a4 |
A |
T |
12: 31,575,567 (GRCm39) |
C706* |
probably null |
Het |
| Slc37a2 |
A |
G |
9: 37,148,177 (GRCm39) |
V325A |
probably benign |
Het |
| Speg |
T |
A |
1: 75,378,145 (GRCm39) |
D784E |
probably damaging |
Het |
| Sycp1 |
T |
C |
3: 102,827,938 (GRCm39) |
I270V |
probably benign |
Het |
| Tatdn2 |
T |
A |
6: 113,681,076 (GRCm39) |
F309I |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,089,400 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
A |
7: 63,852,801 (GRCm39) |
|
probably null |
Het |
| Wrn |
T |
C |
8: 33,782,714 (GRCm39) |
R496G |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,300,854 (GRCm39) |
V2299A |
probably benign |
Het |
| Zfp819 |
T |
A |
7: 43,266,524 (GRCm39) |
S260T |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTCTGCTTAGAAAAGTGGGGTC -3'
(R):5'- AGGCATTTTCTCGCCAAACGAAAC -3'
Sequencing Primer
(F):5'- AAAAGTGGGGTCTGATCTTTTTTTC -3'
(R):5'- GGTATCAAAGCAGATCTTTCAGACC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation