Incidental Mutation 'R9650:Epb41l2'
| ID |
727042 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R9650 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
25235696-25399417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25369495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 605
(I605V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055122
(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: I605V
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: I605V
| 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: I605V
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: I605V
| 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 benign
Transcript: ENSMUST00000217929
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217943
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220290
AA Change: I21V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,071,446 (GRCm39) |
N1469Y |
probably benign |
Het |
| Actl10 |
T |
A |
2: 154,394,682 (GRCm39) |
N211K |
probably benign |
Het |
| Adam33 |
C |
T |
2: 130,894,989 (GRCm39) |
V690M |
possibly damaging |
Het |
| Agap2 |
G |
A |
10: 126,927,653 (GRCm39) |
R1178H |
unknown |
Het |
| Ank2 |
T |
A |
3: 126,735,829 (GRCm39) |
T3352S |
unknown |
Het |
| BC005537 |
T |
A |
13: 24,986,122 (GRCm39) |
D7E |
unknown |
Het |
| Bptf |
T |
C |
11: 106,935,412 (GRCm39) |
M142V |
probably benign |
Het |
| Cox15 |
A |
G |
19: 43,735,318 (GRCm39) |
Y150H |
probably benign |
Het |
| Cpq |
A |
T |
15: 33,497,405 (GRCm39) |
I382F |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,254,636 (GRCm39) |
F1275S |
|
Het |
| Cs |
T |
A |
10: 128,196,856 (GRCm39) |
M417K |
probably benign |
Het |
| Cyp2b19 |
G |
A |
7: 26,466,208 (GRCm39) |
R337Q |
possibly damaging |
Het |
| Dmgdh |
A |
T |
13: 93,845,333 (GRCm39) |
Y442F |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,174,849 (GRCm39) |
D131E |
possibly damaging |
Het |
| Evc |
G |
A |
5: 37,458,162 (GRCm39) |
P963L |
probably damaging |
Het |
| Evl |
C |
A |
12: 108,641,698 (GRCm39) |
T160N |
probably benign |
Het |
| Fam76a |
T |
C |
4: 132,629,387 (GRCm39) |
Y255C |
probably damaging |
Het |
| Fras1 |
G |
T |
5: 96,910,387 (GRCm39) |
R3272L |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,369,375 (GRCm39) |
V2283A |
probably damaging |
Het |
| Fzd6 |
A |
G |
15: 38,894,941 (GRCm39) |
Y369C |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,135,357 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,425,354 (GRCm39) |
S449P |
probably damaging |
Het |
| Ighv1-34 |
G |
T |
12: 114,814,885 (GRCm39) |
D92E |
possibly damaging |
Het |
| Iigp1c |
T |
G |
18: 60,379,470 (GRCm39) |
V335G |
probably damaging |
Het |
| Ino80 |
C |
T |
2: 119,277,464 (GRCm39) |
R337Q |
probably damaging |
Het |
| Itgax |
T |
C |
7: 127,734,935 (GRCm39) |
I422T |
probably benign |
Het |
| Itk |
A |
T |
11: 46,222,778 (GRCm39) |
Y564N |
probably damaging |
Het |
| Kcnh5 |
A |
C |
12: 75,023,293 (GRCm39) |
S592A |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,609,083 (GRCm39) |
V416E |
possibly damaging |
Het |
| Lhfpl4 |
T |
C |
6: 113,171,147 (GRCm39) |
E13G |
probably benign |
Het |
| Mid1 |
C |
G |
X: 168,768,003 (GRCm39) |
P384A |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,553,762 (GRCm39) |
M4177K |
unknown |
Het |
| Ngef |
T |
A |
1: 87,415,552 (GRCm39) |
T371S |
possibly damaging |
Het |
| Nutm2 |
A |
T |
13: 50,623,755 (GRCm39) |
T151S |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,818,006 (GRCm39) |
L180* |
probably null |
Het |
| Or51f2 |
T |
C |
7: 102,526,987 (GRCm39) |
I220T |
probably damaging |
Het |
| Pate13 |
A |
C |
9: 35,820,799 (GRCm39) |
M84L |
probably benign |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,519 (GRCm39) |
I525K |
probably benign |
Het |
| Pcx |
C |
T |
19: 4,657,714 (GRCm39) |
R394C |
probably damaging |
Het |
| Pnmt |
A |
T |
11: 98,278,262 (GRCm39) |
D112V |
probably damaging |
Het |
| Rnf115 |
C |
T |
3: 96,665,337 (GRCm39) |
T69I |
probably damaging |
Het |
| Rrp7a |
A |
T |
15: 83,004,091 (GRCm39) |
|
probably null |
Het |
| Senp1 |
A |
T |
15: 97,946,248 (GRCm39) |
M499K |
probably damaging |
Het |
| Serpina3f |
G |
A |
12: 104,186,519 (GRCm39) |
A362T |
possibly damaging |
Het |
| Slc29a3 |
T |
A |
10: 60,586,302 (GRCm39) |
I55F |
possibly damaging |
Het |
| Stab2 |
ACC |
AC |
10: 86,692,561 (GRCm39) |
|
probably null |
Het |
| Tln1 |
G |
A |
4: 43,545,912 (GRCm39) |
T901I |
probably damaging |
Het |
| Tmem102 |
T |
C |
11: 69,695,869 (GRCm39) |
K64R |
probably benign |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,930,629 (GRCm39) |
V2105I |
probably damaging |
Het |
| Traf2 |
A |
C |
2: 25,410,454 (GRCm39) |
C391W |
probably damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,705,974 (GRCm39) |
S183P |
probably benign |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
C |
A |
9: 44,000,476 (GRCm39) |
N288K |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,613,929 (GRCm39) |
T381A |
probably benign |
Het |
| Vil1 |
C |
T |
1: 74,464,775 (GRCm39) |
P474L |
probably benign |
Het |
| Wasf2 |
T |
A |
4: 132,917,457 (GRCm39) |
N185K |
unknown |
Het |
| Zfp865 |
A |
G |
7: 5,037,683 (GRCm39) |
M45V |
unknown |
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 |
|
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 |
|
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'- GATGATGGTGGAATGTACTCAGC -3'
(R):5'- GCCATCTAAGAACCAAGGCG -3'
Sequencing Primer
(F):5'- ACTCAGCTTTGTTTGTTGTGACTC -3'
(R):5'- TGGTAACATGCACTCCCAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation