Incidental Mutation 'R8744:Epb41l2'
| ID |
663431 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R8744 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
25235696-25399417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25317725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 81
(L81F)
|
| 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 damaging
Transcript: ENSMUST00000053748
AA Change: L81F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: L81F
| 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: L81F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: L81F
| 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 damaging
Transcript: ENSMUST00000217929
AA Change: L81F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218903
AA Change: L81F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219166
AA Change: L81F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219224
AA Change: L81F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219805
AA Change: L81F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219900
AA Change: L81F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219967
AA Change: L81F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
98% (64/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
C |
A |
11: 58,182,260 (GRCm39) |
|
probably null |
Het |
| Adam2 |
A |
G |
14: 66,272,165 (GRCm39) |
|
probably null |
Het |
| Akt2 |
A |
T |
7: 27,317,738 (GRCm39) |
D94V |
probably benign |
Het |
| Anapc7 |
C |
T |
5: 122,566,211 (GRCm39) |
S40L |
probably benign |
Het |
| Ash1l |
G |
T |
3: 88,965,890 (GRCm39) |
A2431S |
possibly damaging |
Het |
| Atoh1 |
A |
T |
6: 64,706,902 (GRCm39) |
Q199L |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,121,177 (GRCm39) |
C947R |
probably damaging |
Het |
| Ccdc50 |
G |
A |
16: 27,255,148 (GRCm39) |
V199I |
possibly damaging |
Het |
| Ccne1 |
A |
T |
7: 37,802,598 (GRCm39) |
C65S |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,436,791 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Cyp4a10 |
A |
G |
4: 115,386,667 (GRCm39) |
D438G |
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,488,611 (GRCm39) |
H659R |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,089,418 (GRCm39) |
I730V |
possibly damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,011,220 (GRCm39) |
Q3658* |
probably null |
Het |
| Eif2ak4 |
C |
A |
2: 118,261,474 (GRCm39) |
C671* |
probably null |
Het |
| Eif4g3 |
AGCGGCGGCGGCGGCGGC |
AGCGGCGGCGGCGGC |
4: 137,721,372 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,889,925 (GRCm39) |
H446R |
unknown |
Het |
| Ercc8 |
G |
A |
13: 108,320,307 (GRCm39) |
A298T |
probably benign |
Het |
| Fbxo10 |
T |
C |
4: 45,043,880 (GRCm39) |
M648V |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gnpda2 |
C |
T |
5: 69,735,459 (GRCm39) |
A211T |
probably damaging |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
T |
C |
3: 95,469,926 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Igkv4-81 |
T |
C |
6: 68,968,046 (GRCm39) |
I18M |
possibly damaging |
Het |
| Itgav |
G |
T |
2: 83,600,427 (GRCm39) |
A312S |
probably benign |
Het |
| Itpr1 |
G |
T |
6: 108,354,763 (GRCm39) |
A457S |
possibly damaging |
Het |
| Kcna10 |
T |
C |
3: 107,101,702 (GRCm39) |
L111P |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 63,012,433 (GRCm39) |
R92G |
possibly damaging |
Het |
| Lamc2 |
G |
A |
1: 153,019,484 (GRCm39) |
P486S |
probably benign |
Het |
| Lrba |
C |
T |
3: 86,211,640 (GRCm39) |
T420M |
probably benign |
Het |
| Lrrc52 |
G |
A |
1: 167,294,150 (GRCm39) |
T45M |
probably benign |
Het |
| Lsm8 |
C |
A |
6: 18,853,638 (GRCm39) |
A80E |
probably benign |
Het |
| Ly6g |
T |
A |
15: 75,027,518 (GRCm39) |
S9T |
probably benign |
Het |
| Mcc |
A |
G |
18: 44,857,639 (GRCm39) |
Y159H |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,451,970 (GRCm39) |
|
probably null |
Het |
| Mrpl9 |
T |
A |
3: 94,355,082 (GRCm39) |
|
probably benign |
Het |
| Ndst4 |
T |
C |
3: 125,506,989 (GRCm39) |
F210L |
possibly damaging |
Het |
| Or13l2 |
A |
G |
3: 97,317,597 (GRCm39) |
V300A |
probably benign |
Het |
| Or5d40 |
T |
A |
2: 88,015,723 (GRCm39) |
C167* |
probably null |
Het |
| Pappa2 |
A |
G |
1: 158,611,487 (GRCm39) |
V1492A |
possibly damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,804,373 (GRCm39) |
H739R |
probably benign |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,827 (GRCm39) |
T628A |
probably damaging |
Het |
| Plekhn1 |
C |
T |
4: 156,318,364 (GRCm39) |
R86H |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,101,461 (GRCm39) |
W72R |
probably benign |
Het |
| Polr3b |
C |
A |
10: 84,464,488 (GRCm39) |
|
probably benign |
Het |
| Rab3b |
A |
T |
4: 108,781,184 (GRCm39) |
I104F |
probably damaging |
Het |
| Rab5b |
A |
T |
10: 128,518,751 (GRCm39) |
V127D |
probably damaging |
Het |
| Rnf170 |
A |
G |
8: 26,619,408 (GRCm39) |
M211V |
unknown |
Het |
| Rpl7 |
T |
C |
1: 16,172,113 (GRCm39) |
T218A |
probably benign |
Het |
| Serinc2 |
T |
C |
4: 130,158,988 (GRCm39) |
|
probably benign |
Het |
| Socs2 |
T |
A |
10: 95,228,662 (GRCm39) |
Q196L |
|
Het |
| Stab2 |
T |
C |
10: 86,805,213 (GRCm39) |
H255R |
probably benign |
Het |
| Syvn1 |
G |
A |
19: 6,099,198 (GRCm39) |
G149D |
probably damaging |
Het |
| Them5 |
T |
C |
3: 94,253,472 (GRCm39) |
S161P |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,873 (GRCm39) |
Y235N |
possibly damaging |
Het |
| Toporsl |
T |
C |
4: 52,611,967 (GRCm39) |
L620P |
probably benign |
Het |
| Traf3 |
A |
T |
12: 111,228,230 (GRCm39) |
E480D |
probably benign |
Het |
| Trav13n-4 |
A |
G |
14: 53,601,399 (GRCm39) |
Y56C |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,524,642 (GRCm39) |
Y1096C |
probably damaging |
Het |
| Usp2 |
A |
G |
9: 43,998,510 (GRCm39) |
|
probably benign |
Het |
| Usp40 |
A |
T |
1: 87,911,491 (GRCm39) |
L512Q |
probably benign |
Het |
| Vmn1r175 |
T |
C |
7: 23,508,403 (GRCm39) |
T75A |
probably benign |
Het |
| Zan |
A |
G |
5: 137,426,126 (GRCm39) |
V2550A |
unknown |
Het |
| Zfp235 |
A |
T |
7: 23,839,924 (GRCm39) |
E114D |
possibly damaging |
Het |
| Zmym1 |
A |
T |
4: 126,945,165 (GRCm39) |
D141E |
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 |
|
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 |
|
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'- GATGCCTCCAAGGAGAAAGC -3'
(R):5'- CACGCTGCTTTTCAAGGCTG -3'
Sequencing Primer
(F):5'- TGCCTCCAAGGAGAAAGCTAAAG -3'
(R):5'- AAGGCTGGTTTTGCTTCCC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation