Incidental Mutation 'R1813:Epb41l2'
| ID |
265966 |
| 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 |
039841-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R1813 (G1)
|
| Quality Score |
175 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
25235696-25399417 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 25317466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053748]
[ENSMUST00000053748]
[ENSMUST00000092645]
[ENSMUST00000092645]
[ENSMUST00000092645]
[ENSMUST00000092645]
[ENSMUST00000217929]
[ENSMUST00000217929]
[ENSMUST00000218903]
[ENSMUST00000218903]
[ENSMUST00000219166]
[ENSMUST00000219166]
[ENSMUST00000219224]
[ENSMUST00000219224]
[ENSMUST00000219805]
[ENSMUST00000219805]
[ENSMUST00000219900]
[ENSMUST00000219900]
[ENSMUST00000219967]
[ENSMUST00000219967]
|
| AlphaFold |
O70318 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053748
|
| SMART Domains |
Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
| 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: ENSMUST00000053748
|
| SMART Domains |
Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
| 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
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
| 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: ENSMUST00000092645
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
| 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: ENSMUST00000092645
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
| 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: ENSMUST00000092645
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
| 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
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217929
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218903
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218903
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219166
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219166
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219224
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219224
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219805
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219805
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219900
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219900
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219967
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220121
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 94.8%
- 20x: 90.3%
|
| Validation Efficiency |
96% (79/82) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,543,236 (GRCm39) |
N595Y |
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,124,671 (GRCm39) |
|
probably benign |
Het |
| Abo |
C |
A |
2: 26,733,609 (GRCm39) |
D199Y |
probably damaging |
Het |
| Acvr1c |
A |
C |
2: 58,170,306 (GRCm39) |
V277G |
probably damaging |
Het |
| Adam23 |
G |
A |
1: 63,584,731 (GRCm39) |
A380T |
probably benign |
Het |
| Art2b |
A |
G |
7: 101,229,236 (GRCm39) |
V221A |
probably benign |
Het |
| Bcam |
A |
G |
7: 19,500,640 (GRCm39) |
S153P |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,077,906 (GRCm39) |
H174R |
possibly damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,788,601 (GRCm39) |
D536G |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,524,287 (GRCm39) |
N67S |
probably benign |
Het |
| Cd8a |
G |
T |
6: 71,350,947 (GRCm39) |
M137I |
possibly damaging |
Het |
| Ces2g |
T |
C |
8: 105,693,569 (GRCm39) |
F417L |
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,925,660 (GRCm39) |
N23S |
unknown |
Het |
| Cntnap2 |
T |
C |
6: 46,507,567 (GRCm39) |
Y61C |
probably damaging |
Het |
| Cog3 |
T |
A |
14: 75,979,784 (GRCm39) |
E182D |
probably benign |
Het |
| Dbpht2 |
A |
G |
12: 74,342,624 (GRCm39) |
|
noncoding transcript |
Het |
| Dock4 |
A |
T |
12: 40,686,227 (GRCm39) |
N154I |
probably damaging |
Het |
| Dysf |
T |
G |
6: 84,128,906 (GRCm39) |
V1422G |
possibly damaging |
Het |
| E2f3 |
T |
C |
13: 30,104,159 (GRCm39) |
D140G |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,611,514 (GRCm39) |
K452R |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,035,857 (GRCm39) |
K98E |
possibly damaging |
Het |
| Esyt1 |
T |
C |
10: 128,355,487 (GRCm39) |
D444G |
probably benign |
Het |
| Fam163a |
T |
C |
1: 155,955,787 (GRCm39) |
T2A |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,379,767 (GRCm39) |
|
probably benign |
Het |
| Gcm2 |
T |
C |
13: 41,259,367 (GRCm39) |
H34R |
probably benign |
Het |
| Gipr |
A |
G |
7: 18,897,996 (GRCm39) |
S79P |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,823,276 (GRCm39) |
S333P |
probably damaging |
Het |
| Gm10717 |
T |
G |
9: 3,026,317 (GRCm39) |
F205C |
probably damaging |
Het |
| Gzmk |
A |
G |
13: 113,309,427 (GRCm39) |
S208P |
probably damaging |
Het |
| Htra2 |
G |
T |
6: 83,028,583 (GRCm39) |
A318D |
probably damaging |
Het |
| Itpkc |
T |
C |
7: 26,907,805 (GRCm39) |
D633G |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,098,218 (GRCm39) |
R1805H |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,909,121 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,936,182 (GRCm39) |
V619A |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,362,402 (GRCm39) |
T1408A |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,962,753 (GRCm39) |
D779G |
probably benign |
Het |
| Nxpe4 |
A |
G |
9: 48,304,678 (GRCm39) |
Y255C |
possibly damaging |
Het |
| Obox6 |
A |
T |
7: 15,568,770 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,489,133 (GRCm39) |
I304V |
probably damaging |
Het |
| Or8b41 |
T |
A |
9: 38,055,025 (GRCm39) |
I198N |
possibly damaging |
Het |
| Pkig |
T |
A |
2: 163,563,147 (GRCm39) |
I26N |
possibly damaging |
Het |
| Plekhm2 |
C |
T |
4: 141,369,750 (GRCm39) |
V82M |
possibly damaging |
Het |
| Plppr2 |
G |
A |
9: 21,859,220 (GRCm39) |
A446T |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,754,353 (GRCm39) |
F203L |
probably benign |
Het |
| Sh3bp1 |
A |
G |
15: 78,787,880 (GRCm39) |
K137E |
probably damaging |
Het |
| Shisa5 |
T |
A |
9: 108,885,108 (GRCm39) |
I126N |
probably damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,414,931 (GRCm39) |
L21P |
probably benign |
Het |
| Slc35f1 |
C |
T |
10: 52,809,291 (GRCm39) |
P93S |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,194,167 (GRCm39) |
T172A |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,393,710 (GRCm39) |
Y551F |
probably benign |
Het |
| Spata31 |
T |
C |
13: 65,069,612 (GRCm39) |
S587P |
probably benign |
Het |
| Syna |
C |
A |
5: 134,588,006 (GRCm39) |
M314I |
probably benign |
Het |
| Taf5l |
A |
G |
8: 124,730,152 (GRCm39) |
L144P |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,641,271 (GRCm39) |
T369A |
probably benign |
Het |
| Tnfrsf11b |
A |
T |
15: 54,119,493 (GRCm39) |
C160* |
probably null |
Het |
| Trim45 |
A |
G |
3: 100,830,283 (GRCm39) |
N19S |
probably benign |
Het |
| Uba2 |
A |
G |
7: 33,850,455 (GRCm39) |
F364S |
probably damaging |
Het |
| Unc50 |
T |
A |
1: 37,476,323 (GRCm39) |
L161Q |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,348,992 (GRCm39) |
|
probably null |
Het |
| Usp25 |
A |
G |
16: 76,911,838 (GRCm39) |
I956V |
probably benign |
Het |
| Utf1 |
C |
A |
7: 139,524,213 (GRCm39) |
L143I |
probably damaging |
Het |
| Vmn1r158 |
C |
T |
7: 22,490,143 (GRCm39) |
C22Y |
probably damaging |
Het |
| Vmn1r36 |
T |
A |
6: 66,693,756 (GRCm39) |
M40L |
probably benign |
Het |
| Vmn2r43 |
A |
G |
7: 8,258,055 (GRCm39) |
V386A |
possibly damaging |
Het |
| Vps9d1 |
C |
A |
8: 123,973,778 (GRCm39) |
R335L |
probably damaging |
Het |
| Wasf1 |
T |
A |
10: 40,802,585 (GRCm39) |
V80D |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,183,298 (GRCm39) |
V1077I |
possibly damaging |
Het |
| Wnt8a |
A |
G |
18: 34,675,422 (GRCm39) |
M1V |
probably null |
Het |
| Zbtb26 |
A |
G |
2: 37,326,347 (GRCm39) |
S230P |
possibly damaging |
Het |
| Zfp335 |
A |
G |
2: 164,734,525 (GRCm39) |
V1247A |
probably damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,505 (GRCm39) |
N313S |
possibly damaging |
Het |
| Zfp74 |
A |
T |
7: 29,634,569 (GRCm39) |
C380S |
probably damaging |
Het |
| Zfyve21 |
G |
A |
12: 111,791,328 (GRCm39) |
E134K |
probably damaging |
Het |
| Zmynd11 |
T |
C |
13: 9,739,616 (GRCm39) |
T474A |
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 |
|
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 |
|
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'- GGGGTTCTGAGAGTTCTAATAGAGC -3'
(R):5'- GTTCTCAGACGGATCCTTCC -3'
Sequencing Primer
(F):5'- TCTGAGAGTTCTAATAGAGCAAGTG -3'
(R):5'- GGGAGTGCTTTGCCTCTCAAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation