Incidental Mutation 'R7796:Epb41l2'
| ID |
600235 |
| 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 |
045852-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R7796 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
25235696-25399417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25319727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 187
(T187A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053748]
[ENSMUST00000092645]
[ENSMUST00000217929]
[ENSMUST00000218903]
[ENSMUST00000219166]
[ENSMUST00000219224]
[ENSMUST00000219805]
[ENSMUST00000219900]
[ENSMUST00000219967]
|
| AlphaFold |
O70318 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053748
AA Change: T187A
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: T187A
| 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: T187A
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: T187A
| 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 |
possibly damaging
Transcript: ENSMUST00000217929
AA Change: T187A
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218903
AA Change: T187A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219166
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219224
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219805
AA Change: T187A
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219900
AA Change: T187A
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219967
|
| Meta Mutation Damage Score |
0.0631 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (54/54) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
T |
A |
16: 97,867,024 (GRCm39) |
I313F |
probably benign |
Het |
| Acot2 |
T |
A |
12: 84,035,257 (GRCm39) |
|
probably null |
Het |
| Agbl4 |
G |
T |
4: 110,518,165 (GRCm39) |
G152V |
unknown |
Het |
| Arap2 |
A |
G |
5: 62,888,105 (GRCm39) |
S414P |
probably damaging |
Het |
| Cep85l |
A |
C |
10: 53,157,497 (GRCm39) |
N735K |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,585,833 (GRCm39) |
S1209G |
possibly damaging |
Het |
| Dennd1b |
G |
A |
1: 138,990,611 (GRCm39) |
E192K |
probably damaging |
Het |
| Dpf1 |
C |
G |
7: 29,011,106 (GRCm39) |
N168K |
possibly damaging |
Het |
| Dync1li2 |
T |
A |
8: 105,157,181 (GRCm39) |
Y184F |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fndc3b |
G |
A |
3: 27,515,892 (GRCm39) |
T638I |
probably benign |
Het |
| Gm11564 |
A |
G |
11: 99,706,424 (GRCm39) |
V2A |
unknown |
Het |
| Gm3159 |
A |
G |
14: 4,400,560 (GRCm38) |
*206W |
probably null |
Het |
| Gm32742 |
A |
G |
9: 51,071,123 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
G |
A |
1: 166,469,819 (GRCm39) |
H85Y |
probably damaging |
Het |
| Gprc5c |
A |
T |
11: 114,755,358 (GRCm39) |
D345V |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,007,854 (GRCm39) |
Y1363* |
probably null |
Het |
| Kdm5a |
T |
C |
6: 120,367,724 (GRCm39) |
V473A |
probably damaging |
Het |
| Kidins220 |
T |
C |
12: 25,032,350 (GRCm39) |
C28R |
probably damaging |
Het |
| Klhl5 |
T |
C |
5: 65,321,965 (GRCm39) |
Y664H |
probably damaging |
Het |
| Krt17 |
A |
G |
11: 100,151,698 (GRCm39) |
S32P |
probably benign |
Het |
| Krt87 |
A |
G |
15: 101,383,865 (GRCm39) |
V424A |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,759,634 (GRCm39) |
T201A |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,455,654 (GRCm39) |
|
probably null |
Het |
| Megf10 |
C |
A |
18: 57,410,731 (GRCm39) |
T680N |
possibly damaging |
Het |
| Metap1d |
T |
A |
2: 71,342,506 (GRCm39) |
D178E |
probably damaging |
Het |
| Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,299,923 (GRCm39) |
S1704P |
probably damaging |
Het |
| Nr2f2 |
A |
G |
7: 70,007,901 (GRCm39) |
S194P |
probably benign |
Het |
| Nrsn2 |
T |
A |
2: 152,218,471 (GRCm39) |
|
probably benign |
Het |
| Ociad1 |
C |
T |
5: 73,452,290 (GRCm39) |
P27L |
probably damaging |
Het |
| Or13p5 |
T |
A |
4: 118,591,882 (GRCm39) |
I52N |
probably damaging |
Het |
| Or4a39 |
T |
A |
2: 89,237,157 (GRCm39) |
T89S |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,435,220 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,428,446 (GRCm39) |
I140V |
possibly damaging |
Het |
| Pla2g6 |
T |
C |
15: 79,202,025 (GRCm39) |
N49D |
probably benign |
Het |
| Pramel22 |
T |
A |
4: 143,380,727 (GRCm39) |
D432V |
possibly damaging |
Het |
| Pxdc1 |
T |
A |
13: 34,836,354 (GRCm39) |
N22I |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 91,996,865 (GRCm39) |
Y672H |
probably damaging |
Het |
| Rps23rg1 |
T |
C |
8: 3,634,160 (GRCm39) |
V111A |
probably benign |
Het |
| Safb2 |
T |
C |
17: 56,873,327 (GRCm39) |
R779G |
possibly damaging |
Het |
| Skic2 |
C |
T |
17: 35,063,394 (GRCm39) |
G628S |
probably damaging |
Het |
| Smg5 |
A |
T |
3: 88,256,739 (GRCm39) |
Q299L |
probably damaging |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Sulf1 |
T |
C |
1: 12,929,044 (GRCm39) |
L864S |
probably benign |
Het |
| Tas1r1 |
A |
G |
4: 152,119,212 (GRCm39) |
V119A |
probably benign |
Het |
| Tasp1 |
T |
C |
2: 139,850,705 (GRCm39) |
N106S |
probably damaging |
Het |
| Tcf4 |
T |
A |
18: 69,697,140 (GRCm39) |
N156K |
probably benign |
Het |
| Trav14n-3 |
T |
A |
14: 53,607,827 (GRCm39) |
Y52* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,665,222 (GRCm39) |
E11598G |
unknown |
Het |
| Unc80 |
A |
G |
1: 66,542,873 (GRCm39) |
I376V |
probably benign |
Het |
| Ybx3 |
T |
C |
6: 131,345,479 (GRCm39) |
E298G |
probably damaging |
Het |
| Yipf7 |
T |
C |
5: 69,684,596 (GRCm39) |
Y73C |
possibly damaging |
Het |
| Zdbf2 |
G |
A |
1: 63,342,583 (GRCm39) |
A321T |
possibly damaging |
Het |
| Zfp369 |
A |
G |
13: 65,444,029 (GRCm39) |
R391G |
probably benign |
Het |
| Zfp54 |
A |
G |
17: 21,654,982 (GRCm39) |
E492G |
probably damaging |
Het |
| Zfp971 |
A |
G |
2: 177,673,403 (GRCm39) |
T51A |
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 |
|
|
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 |
|
|
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'- TCTGCTTAGAAAAGTGGGGTC -3'
(R):5'- GCCTGTAGGAACTTGGTGAAAG -3'
Sequencing Primer
(F):5'- CTGCTTAGAAAAGTGGGGTCTGATC -3'
(R):5'- AATTGTGCCTCCGAGACCG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation