Incidental Mutation 'R6276:Epb41l2'
| ID |
507654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epb41l2
|
| Ensembl Gene |
ENSMUSG00000019978 |
| Gene Name |
erythrocyte membrane protein band 4.1 like 2 |
| Synonyms |
NBL2, 4.1G, Epb4.1l2, D10Ertd398e |
| MMRRC Submission |
044446-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.301)
|
| Stock # |
R6276 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
25359798-25523519 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 25502124 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 695
(G695C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151875
(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: G765C
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: G765C
| 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: G765C
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: G765C
| 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 damaging
Transcript: ENSMUST00000217929
AA Change: G695C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218345
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218903
AA Change: G695C
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219138
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219201
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219941
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220290
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (71/71) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930504O13Rik |
T |
A |
11: 58,446,366 (GRCm38) |
I94L |
possibly damaging |
Het |
| 4931406P16Rik |
A |
T |
7: 34,242,377 (GRCm38) |
Y627* |
probably null |
Het |
| Actr3 |
A |
T |
1: 125,395,137 (GRCm38) |
D364E |
probably benign |
Het |
| Adra2c |
C |
T |
5: 35,280,079 (GRCm38) |
T65I |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 127,089,360 (GRCm38) |
|
probably null |
Het |
| Ager |
T |
C |
17: 34,598,754 (GRCm38) |
V126A |
possibly damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,737,536 (GRCm38) |
I288M |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 80,026,234 (GRCm38) |
S541C |
probably benign |
Het |
| Asb4 |
A |
G |
6: 5,431,043 (GRCm38) |
Y426C |
probably damaging |
Het |
| Azi2 |
C |
T |
9: 118,049,338 (GRCm38) |
T82I |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,948,223 (GRCm38) |
R764S |
probably damaging |
Het |
| Ccdc146 |
A |
C |
5: 21,301,340 (GRCm38) |
I701S |
probably damaging |
Het |
| Cd55b |
T |
A |
1: 130,418,166 (GRCm38) |
I172F |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,634,190 (GRCm38) |
E199G |
probably benign |
Het |
| Cntnap4 |
A |
T |
8: 112,752,289 (GRCm38) |
T216S |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,604,514 (GRCm38) |
N1336K |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,164,568 (GRCm38) |
N649S |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,846,586 (GRCm38) |
E96G |
probably benign |
Het |
| Dscaml1 |
C |
T |
9: 45,668,160 (GRCm38) |
T335I |
possibly damaging |
Het |
| Erbb4 |
C |
T |
1: 68,560,576 (GRCm38) |
R114H |
probably damaging |
Het |
| F2rl1 |
G |
T |
13: 95,513,938 (GRCm38) |
Y145* |
probably null |
Het |
| Fam58b |
T |
C |
11: 78,751,230 (GRCm38) |
K145E |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,980,441 (GRCm38) |
Y2368F |
possibly damaging |
Het |
| Galnt7 |
C |
T |
8: 57,536,578 (GRCm38) |
|
probably null |
Het |
| Gm6811 |
T |
G |
17: 21,094,690 (GRCm38) |
|
noncoding transcript |
Het |
| Gm6811 |
T |
A |
17: 21,093,983 (GRCm38) |
|
noncoding transcript |
Het |
| H2-M1 |
G |
A |
17: 36,671,710 (GRCm38) |
T86M |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,743,366 (GRCm38) |
D170G |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,738,681 (GRCm38) |
A1325T |
possibly damaging |
Het |
| Insrr |
T |
A |
3: 87,800,519 (GRCm38) |
Y89* |
probably null |
Het |
| Itga1 |
T |
C |
13: 114,980,852 (GRCm38) |
E871G |
probably benign |
Het |
| Kat6a |
T |
C |
8: 22,939,405 (GRCm38) |
L1592P |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,921,063 (GRCm38) |
A756E |
probably benign |
Het |
| Krt12 |
A |
T |
11: 99,421,902 (GRCm38) |
C105* |
probably null |
Het |
| Lama1 |
G |
A |
17: 67,784,088 (GRCm38) |
|
probably null |
Het |
| Lama3 |
A |
G |
18: 12,506,949 (GRCm38) |
N67S |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 66,306,839 (GRCm38) |
|
probably null |
Het |
| Map2 |
T |
C |
1: 66,399,419 (GRCm38) |
V34A |
probably damaging |
Het |
| Mroh6 |
A |
G |
15: 75,885,700 (GRCm38) |
L487P |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 112,811,642 (GRCm38) |
S1430T |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,154,749 (GRCm38) |
T495I |
probably benign |
Het |
| Olfr391-ps |
A |
T |
11: 73,799,403 (GRCm38) |
M118K |
probably damaging |
Het |
| Palld |
C |
T |
8: 61,513,423 (GRCm38) |
A980T |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,761,668 (GRCm38) |
I620N |
probably damaging |
Het |
| Pcdha6 |
A |
G |
18: 36,969,767 (GRCm38) |
|
probably null |
Het |
| Pcdhb11 |
G |
A |
18: 37,421,760 (GRCm38) |
V48M |
probably benign |
Het |
| Pcdhga6 |
A |
G |
18: 37,707,644 (GRCm38) |
E139G |
probably benign |
Het |
| Pck1 |
T |
C |
2: 173,157,319 (GRCm38) |
V426A |
probably damaging |
Het |
| Pck2 |
T |
A |
14: 55,542,624 (GRCm38) |
I110N |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm38) |
|
probably benign |
Het |
| Phactr3 |
G |
A |
2: 178,279,019 (GRCm38) |
E222K |
probably damaging |
Het |
| Ppip5k1 |
A |
T |
2: 121,323,203 (GRCm38) |
|
probably benign |
Het |
| Prodh2 |
A |
G |
7: 30,506,651 (GRCm38) |
H278R |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 94,623,258 (GRCm38) |
H91Q |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,403,480 (GRCm38) |
|
probably benign |
Het |
| Smn1 |
A |
G |
13: 100,127,995 (GRCm38) |
N78S |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,218,512 (GRCm38) |
I1614N |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,434,290 (GRCm38) |
D165G |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,743,005 (GRCm38) |
Y593C |
probably damaging |
Het |
| Tcaf2 |
G |
C |
6: 42,629,753 (GRCm38) |
F422L |
probably benign |
Het |
| Tex15 |
T |
A |
8: 33,577,189 (GRCm38) |
F2216I |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,318,020 (GRCm38) |
E846G |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,744,449 (GRCm38) |
I753T |
probably benign |
Het |
| Vdac1 |
C |
T |
11: 52,376,482 (GRCm38) |
T70M |
possibly damaging |
Het |
| Vmn1r124 |
A |
C |
7: 21,260,179 (GRCm38) |
F147V |
probably benign |
Het |
| Vmn1r220 |
T |
C |
13: 23,184,295 (GRCm38) |
D77G |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,490,731 (GRCm38) |
H72R |
probably benign |
Het |
| Vmn2r78 |
A |
T |
7: 86,921,110 (GRCm38) |
I279L |
probably benign |
Het |
| Vmn2r95 |
G |
T |
17: 18,451,470 (GRCm38) |
A490S |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 33,109,525 (GRCm38) |
A915T |
possibly damaging |
Het |
| Zmiz2 |
G |
T |
11: 6,395,604 (GRCm38) |
|
probably null |
Het |
| Zscan2 |
A |
G |
7: 80,875,809 (GRCm38) |
N426S |
probably benign |
Het |
|
| Other mutations in Epb41l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00234:Epb41l2
|
APN |
10 |
25,501,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00826:Epb41l2
|
APN |
10 |
25,441,722 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL01312:Epb41l2
|
APN |
10 |
25,441,587 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
IGL02123:Epb41l2
|
APN |
10 |
25,460,844 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02448:Epb41l2
|
APN |
10 |
25,493,595 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R0365:Epb41l2
|
UTSW |
10 |
25,469,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0594:Epb41l2
|
UTSW |
10 |
25,443,770 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0826:Epb41l2
|
UTSW |
10 |
25,504,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0837:Epb41l2
|
UTSW |
10 |
25,507,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1243:Epb41l2
|
UTSW |
10 |
25,489,043 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1301:Epb41l2
|
UTSW |
10 |
25,443,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1560:Epb41l2
|
UTSW |
10 |
25,495,436 (GRCm38) |
splice site |
probably null |
|
|
R1752:Epb41l2
|
UTSW |
10 |
25,460,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1813:Epb41l2
|
UTSW |
10 |
25,441,568 (GRCm38) |
splice site |
probably null |
|
|
R1966:Epb41l2
|
UTSW |
10 |
25,441,768 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2276:Epb41l2
|
UTSW |
10 |
25,488,944 (GRCm38) |
unclassified |
probably benign |
|
|
R4425:Epb41l2
|
UTSW |
10 |
25,506,180 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4445:Epb41l2
|
UTSW |
10 |
25,443,803 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4621:Epb41l2
|
UTSW |
10 |
25,502,140 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4720:Epb41l2
|
UTSW |
10 |
25,471,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5026:Epb41l2
|
UTSW |
10 |
25,484,308 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5408:Epb41l2
|
UTSW |
10 |
25,468,094 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5703:Epb41l2
|
UTSW |
10 |
25,441,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5896:Epb41l2
|
UTSW |
10 |
25,493,596 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5974:Epb41l2
|
UTSW |
10 |
25,441,815 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6073:Epb41l2
|
UTSW |
10 |
25,501,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6182:Epb41l2
|
UTSW |
10 |
25,507,817 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6229:Epb41l2
|
UTSW |
10 |
25,499,836 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R6321:Epb41l2
|
UTSW |
10 |
25,468,128 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6737:Epb41l2
|
UTSW |
10 |
25,489,018 (GRCm38) |
splice site |
probably null |
|
|
R6766:Epb41l2
|
UTSW |
10 |
25,473,092 (GRCm38) |
nonsense |
probably null |
|
|
R6834:Epb41l2
|
UTSW |
10 |
25,493,604 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7023:Epb41l2
|
UTSW |
10 |
25,512,977 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7258:Epb41l2
|
UTSW |
10 |
25,484,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7688:Epb41l2
|
UTSW |
10 |
25,479,138 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7769:Epb41l2
|
UTSW |
10 |
25,493,573 (GRCm38) |
missense |
probably benign |
|
|
R7796:Epb41l2
|
UTSW |
10 |
25,443,829 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8365:Epb41l2
|
UTSW |
10 |
25,441,686 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8490:Epb41l2
|
UTSW |
10 |
25,504,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8676:Epb41l2
|
UTSW |
10 |
25,443,776 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8744:Epb41l2
|
UTSW |
10 |
25,441,827 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9288:Epb41l2
|
UTSW |
10 |
25,479,755 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9650:Epb41l2
|
UTSW |
10 |
25,493,597 (GRCm38) |
missense |
probably benign |
0.28 |
|
R9665:Epb41l2
|
UTSW |
10 |
25,441,900 (GRCm38) |
missense |
probably benign |
|
|
R9707:Epb41l2
|
UTSW |
10 |
25,502,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Epb41l2
|
UTSW |
10 |
25,499,902 (GRCm38) |
nonsense |
probably null |
|
|
Z1176:Epb41l2
|
UTSW |
10 |
25,441,720 (GRCm38) |
missense |
probably benign |
0.03 |
|
Z1177:Epb41l2
|
UTSW |
10 |
25,479,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAGAGATGTCACCGGGGC -3'
(R):5'- TAACTCTGTGCGGGTCTTCC -3'
Sequencing Primer
(F):5'- TCCTGGGGAGACTCGTAAG -3'
(R):5'- GTGCGGGTCTTCCTCTGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation