Incidental Mutation 'R5896:Epb41l2'
| ID |
457529 |
| 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 |
044095-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R5896 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
25235696-25399417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25369494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 604
(N604K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053748]
[ENSMUST00000092645]
[ENSMUST00000217929]
[ENSMUST00000217943]
[ENSMUST00000218903]
[ENSMUST00000220290]
|
| AlphaFold |
O70318 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053748
AA Change: N604K
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: N604K
| 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: N604K
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: N604K
| 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 |
probably benign
Transcript: ENSMUST00000217943
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219138
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220290
AA Change: N20K
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220121
|
| Meta Mutation Damage Score |
0.1077 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
| Validation Efficiency |
99% (86/87) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
A |
T |
16: 88,504,321 (GRCm39) |
S159T |
probably damaging |
Het |
| 2610028H24Rik |
T |
A |
10: 76,288,664 (GRCm39) |
M53K |
probably benign |
Het |
| 3425401B19Rik |
G |
A |
14: 32,383,632 (GRCm39) |
Q778* |
probably null |
Het |
| Abhd16a |
T |
A |
17: 35,310,701 (GRCm39) |
|
probably benign |
Het |
| Acp6 |
A |
G |
3: 97,075,810 (GRCm39) |
K226R |
probably benign |
Het |
| Ankfy1 |
A |
G |
11: 72,650,811 (GRCm39) |
D998G |
probably damaging |
Het |
| Apbb1 |
G |
T |
7: 105,223,432 (GRCm39) |
P60T |
probably damaging |
Het |
| Apol9a |
T |
A |
15: 77,288,705 (GRCm39) |
I221F |
probably benign |
Het |
| Arhgap29 |
A |
G |
3: 121,805,736 (GRCm39) |
E947G |
possibly damaging |
Het |
| B430218F22Rik |
A |
T |
13: 118,523,934 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
ACCCCC |
ACCCCCCC |
14: 55,741,456 (GRCm39) |
|
probably null |
Het |
| Ccdc69 |
C |
T |
11: 54,943,716 (GRCm39) |
|
probably null |
Het |
| Ccdc93 |
G |
T |
1: 121,390,849 (GRCm39) |
V274L |
possibly damaging |
Het |
| Cdc25a |
A |
G |
9: 109,713,433 (GRCm39) |
D191G |
probably benign |
Het |
| Cimip2a |
A |
T |
2: 25,110,578 (GRCm39) |
M129L |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,182,373 (GRCm39) |
|
probably null |
Het |
| Crebzf |
TGGAGGAGGAGGAGGAGGA |
TGGAGGAGGAGGAGGA |
7: 90,092,479 (GRCm39) |
|
probably benign |
Het |
| Csde1 |
T |
C |
3: 102,947,859 (GRCm39) |
|
probably benign |
Het |
| Ctdp1 |
A |
G |
18: 80,502,003 (GRCm39) |
L177P |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,272,206 (GRCm39) |
H1003Q |
probably benign |
Het |
| Fig4 |
T |
A |
10: 41,130,881 (GRCm39) |
N465Y |
possibly damaging |
Het |
| Gemin7 |
G |
A |
7: 19,299,223 (GRCm39) |
S124F |
probably damaging |
Het |
| Gli3 |
G |
A |
13: 15,900,765 (GRCm39) |
R1384K |
probably benign |
Het |
| Gm12258 |
G |
A |
11: 58,750,457 (GRCm39) |
C544Y |
probably damaging |
Het |
| Grm1 |
C |
T |
10: 10,956,294 (GRCm39) |
|
probably benign |
Het |
| H2-T15 |
T |
A |
17: 36,367,236 (GRCm39) |
M329L |
probably benign |
Het |
| Hps4 |
C |
T |
5: 112,517,351 (GRCm39) |
T246I |
probably benign |
Het |
| Ifngr2 |
A |
T |
16: 91,358,653 (GRCm39) |
E284D |
possibly damaging |
Het |
| Impdh2 |
A |
G |
9: 108,441,165 (GRCm39) |
T148A |
probably benign |
Het |
| Irx3 |
T |
C |
8: 92,527,763 (GRCm39) |
S36G |
probably benign |
Het |
| Itga5 |
T |
A |
15: 103,259,514 (GRCm39) |
K667N |
probably benign |
Het |
| Itgad |
G |
A |
7: 127,773,188 (GRCm39) |
C15Y |
probably benign |
Het |
| Ly75 |
T |
G |
2: 60,213,490 (GRCm39) |
E29A |
probably benign |
Het |
| Magi1 |
T |
A |
6: 93,685,180 (GRCm39) |
S506C |
probably damaging |
Het |
| Map4 |
G |
A |
9: 109,901,702 (GRCm39) |
V781M |
possibly damaging |
Het |
| Med23 |
T |
C |
10: 24,778,043 (GRCm39) |
L797P |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,559,636 (GRCm39) |
G1123R |
probably benign |
Het |
| Ncor1 |
G |
T |
11: 62,274,016 (GRCm39) |
P55Q |
probably damaging |
Het |
| Odr4 |
A |
T |
1: 150,256,111 (GRCm39) |
N211K |
probably benign |
Het |
| Ofcc1 |
T |
A |
13: 40,334,060 (GRCm39) |
I344F |
probably benign |
Het |
| Or4a74 |
C |
A |
2: 89,439,667 (GRCm39) |
V260F |
probably damaging |
Het |
| Or4d5 |
A |
T |
9: 40,012,189 (GRCm39) |
M199K |
probably damaging |
Het |
| Or5d35 |
A |
G |
2: 87,855,465 (GRCm39) |
Y133C |
probably damaging |
Het |
| Or5k1 |
G |
A |
16: 58,618,095 (GRCm39) |
T38I |
probably damaging |
Het |
| Otub2 |
C |
T |
12: 103,369,687 (GRCm39) |
|
probably benign |
Het |
| Parva |
A |
G |
7: 112,143,960 (GRCm39) |
M83V |
probably benign |
Het |
| Pcdha8 |
T |
A |
18: 37,126,572 (GRCm39) |
N351K |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,732 (GRCm39) |
L704* |
probably null |
Het |
| Pkd1l3 |
T |
A |
8: 110,353,468 (GRCm39) |
L683H |
probably damaging |
Het |
| Plekhn1 |
C |
T |
4: 156,308,331 (GRCm39) |
R288H |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,627,086 (GRCm39) |
N1457K |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,693,719 (GRCm39) |
S981P |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,159,648 (GRCm39) |
K1062E |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,276,007 (GRCm39) |
T498S |
probably benign |
Het |
| Pus7l |
C |
T |
15: 94,427,332 (GRCm39) |
|
probably null |
Het |
| Rptn |
C |
T |
3: 93,305,639 (GRCm39) |
Q991* |
probably null |
Het |
| Rsu1 |
T |
G |
2: 13,229,170 (GRCm39) |
E76A |
probably damaging |
Het |
| Septin11 |
T |
A |
5: 93,304,824 (GRCm39) |
F214I |
probably damaging |
Het |
| Slc1a7 |
G |
T |
4: 107,869,587 (GRCm39) |
A551S |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,000,941 (GRCm39) |
Y13* |
probably null |
Het |
| Slc7a14 |
T |
G |
3: 31,311,719 (GRCm39) |
L100F |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,598,932 (GRCm39) |
E1512G |
probably damaging |
Het |
| Stat5a |
A |
G |
11: 100,767,883 (GRCm39) |
Q458R |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,084,906 (GRCm39) |
T1811A |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,179,667 (GRCm39) |
F624L |
probably benign |
Het |
| Tfeb |
T |
G |
17: 48,070,433 (GRCm39) |
|
probably null |
Het |
| Tnxb |
G |
A |
17: 34,891,126 (GRCm39) |
G490R |
probably damaging |
Het |
| Tra2b |
T |
C |
16: 22,077,953 (GRCm39) |
Y32C |
probably damaging |
Het |
| Trpv4 |
C |
T |
5: 114,760,708 (GRCm39) |
|
probably benign |
Het |
| Uvrag |
A |
T |
7: 98,637,414 (GRCm39) |
L138* |
probably null |
Het |
| Vwf |
A |
T |
6: 125,655,725 (GRCm39) |
|
probably null |
Het |
| Wdr47 |
G |
A |
3: 108,526,322 (GRCm39) |
D282N |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,340,290 (GRCm39) |
N844D |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,339,042 (GRCm39) |
M428V |
probably benign |
Het |
| Znfx1 |
G |
A |
2: 166,880,920 (GRCm39) |
T288I |
probably 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 |
|
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 |
|
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'- TAAGTGCCTGCTGCCTGTTG -3'
(R):5'- AACCAAGGCGGACTGGTAAC -3'
Sequencing Primer
(F):5'- ATGATGGTGGAATGTACTCAGC -3'
(R):5'- TGGTAACATGCACTCCCAAG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation