Incidental Mutation 'R6766:Epb41l2'
| ID |
531937 |
| 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 |
044882-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R6766 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
25235696-25399417 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 25348990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 382
(Q382*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053748]
[ENSMUST00000092645]
[ENSMUST00000217929]
[ENSMUST00000218903]
[ENSMUST00000219805]
[ENSMUST00000219900]
|
| AlphaFold |
O70318 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053748
AA Change: Q382*
|
| SMART Domains |
Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: Q382*
| 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 null
Transcript: ENSMUST00000092645
AA Change: Q382*
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: Q382*
| 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 null
Transcript: ENSMUST00000217929
AA Change: Q382*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218903
AA Change: Q382*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219805
AA Change: Q382*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219900
AA Change: Q382*
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
G |
A |
8: 25,362,646 (GRCm39) |
S17L |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Ankrd34c |
A |
G |
9: 89,611,381 (GRCm39) |
V320A |
probably benign |
Het |
| Aox1 |
C |
A |
1: 58,388,227 (GRCm39) |
L1112I |
possibly damaging |
Het |
| Arap2 |
A |
C |
5: 62,834,443 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
T |
9: 53,401,582 (GRCm39) |
I1429N |
probably damaging |
Het |
| Ccdc68 |
A |
G |
18: 70,099,861 (GRCm39) |
N290D |
probably damaging |
Het |
| Chst1 |
T |
C |
2: 92,443,542 (GRCm39) |
W5R |
probably damaging |
Het |
| Clip1 |
G |
T |
5: 123,752,827 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
T |
C |
16: 3,935,364 (GRCm39) |
T842A |
probably damaging |
Het |
| Cyp2b13 |
T |
C |
7: 25,781,236 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock1 |
T |
A |
7: 134,358,522 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,333,564 (GRCm39) |
I4800V |
probably damaging |
Het |
| Efcab7 |
CAAGTAAAGTAA |
CAAGTAA |
4: 99,735,161 (GRCm39) |
|
probably null |
Het |
| Fam83e |
A |
G |
7: 45,376,070 (GRCm39) |
D261G |
probably damaging |
Het |
| Ifnk |
T |
G |
4: 35,152,134 (GRCm39) |
S21A |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,903,204 (GRCm39) |
H1157R |
probably benign |
Het |
| Ighv1-67 |
T |
C |
12: 115,567,654 (GRCm39) |
K67R |
possibly damaging |
Het |
| Inpp4a |
C |
A |
1: 37,411,422 (GRCm39) |
A97D |
probably damaging |
Het |
| Insm1 |
T |
A |
2: 146,065,346 (GRCm39) |
Y387* |
probably null |
Het |
| Irgm1 |
T |
C |
11: 48,756,928 (GRCm39) |
I294M |
possibly damaging |
Het |
| Isoc2b |
C |
T |
7: 4,854,061 (GRCm39) |
V104M |
probably damaging |
Het |
| Kif2c |
A |
C |
4: 117,024,280 (GRCm39) |
S311R |
probably benign |
Het |
| Morn3 |
G |
A |
5: 123,179,270 (GRCm39) |
A60V |
probably damaging |
Het |
| Oit3 |
T |
C |
10: 59,274,534 (GRCm39) |
N89D |
probably damaging |
Het |
| Or14c40 |
A |
T |
7: 86,313,293 (GRCm39) |
N141I |
probably damaging |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Or4c127 |
T |
C |
2: 89,832,876 (GRCm39) |
V42A |
probably benign |
Het |
| Or5d44 |
T |
A |
2: 88,142,095 (GRCm39) |
Q15L |
noncoding transcript |
Het |
| Or8b48 |
A |
C |
9: 38,493,069 (GRCm39) |
R165S |
probably damaging |
Het |
| Pan2 |
C |
A |
10: 128,150,381 (GRCm39) |
N708K |
possibly damaging |
Het |
| Parp1 |
T |
A |
1: 180,425,927 (GRCm39) |
V886E |
probably damaging |
Het |
| Pcdha8 |
C |
A |
18: 37,127,753 (GRCm39) |
A745E |
probably benign |
Het |
| Pcyox1 |
C |
T |
6: 86,371,390 (GRCm39) |
|
probably null |
Het |
| Prl2c2 |
A |
T |
13: 13,176,713 (GRCm39) |
|
probably null |
Het |
| Samd1 |
T |
C |
8: 84,726,361 (GRCm39) |
S473P |
possibly damaging |
Het |
| Slc26a1 |
A |
T |
5: 108,819,773 (GRCm39) |
D475E |
probably damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,493,535 (GRCm39) |
V239A |
possibly damaging |
Het |
| Smo |
T |
A |
6: 29,736,044 (GRCm39) |
L12Q |
unknown |
Homo |
| Srpk1 |
C |
T |
17: 28,821,727 (GRCm39) |
R229Q |
possibly damaging |
Het |
| Syn2 |
T |
A |
6: 115,216,362 (GRCm39) |
F191L |
probably damaging |
Het |
| Syngr2 |
T |
C |
11: 117,704,261 (GRCm39) |
V182A |
probably benign |
Het |
| Tarbp1 |
G |
A |
8: 127,174,139 (GRCm39) |
A889V |
probably benign |
Het |
| Tbc1d2b |
T |
C |
9: 90,108,262 (GRCm39) |
T430A |
probably benign |
Het |
| Tmem217 |
T |
A |
17: 29,745,484 (GRCm39) |
Y82F |
probably damaging |
Het |
| Ttll9 |
T |
A |
2: 152,841,220 (GRCm39) |
Y272* |
probably null |
Het |
| Uts2r |
A |
G |
11: 121,052,033 (GRCm39) |
Y299C |
probably damaging |
Het |
| Vsig8 |
T |
A |
1: 172,388,143 (GRCm39) |
M37K |
probably benign |
Het |
| Vwf |
G |
T |
6: 125,616,339 (GRCm39) |
D1218Y |
unknown |
Het |
| Wdr11 |
T |
G |
7: 129,226,036 (GRCm39) |
M727R |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Yod1 |
T |
A |
1: 130,647,008 (GRCm39) |
L295* |
probably null |
Het |
| Zfp113 |
G |
T |
5: 138,143,608 (GRCm39) |
S214* |
probably null |
Het |
| Zfp438 |
T |
A |
18: 5,213,780 (GRCm39) |
M393L |
probably benign |
Het |
| Zfp946 |
G |
A |
17: 22,674,752 (GRCm39) |
C502Y |
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 |
|
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 |
|
|
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'- ACAGAACTGTCTTTGGTAGCC -3'
(R):5'- CCAAGAAATATTGCAGACCAAAGTG -3'
Sequencing Primer
(F):5'- ACAGAACTGTCTTTGGTAGCCCTTAC -3'
(R):5'- TCAGTCACCAAGCTGGAA -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation