Incidental Mutation 'R3082:Epb41l5'
| ID |
265466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epb41l5
|
| Ensembl Gene |
ENSMUSG00000026383 |
| Gene Name |
erythrocyte membrane protein band 4.1 like 5 |
| Synonyms |
E230025E14Rik, 1700030C16Rik, NBL5, Epb4.1l5, Lulu1 |
| MMRRC Submission |
040572-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3082 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
119472767-119576730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119536992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 300
(V300I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027632]
[ENSMUST00000052404]
[ENSMUST00000163147]
[ENSMUST00000191046]
|
| AlphaFold |
Q8BGS1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027632
AA Change: V300I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027632
Gene: ENSMUSG00000026383
AA Change: V300I
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
39 |
235 |
8.64e-68 |
SMART |
|
FERM_C
|
239 |
331 |
1.07e-34 |
SMART |
|
FA
|
336 |
380 |
1.16e-12 |
SMART |
|
low complexity region
|
412 |
421 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052404
AA Change: V300I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383
AA Change: V300I
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
39 |
235 |
8.64e-68 |
SMART |
|
FERM_C
|
239 |
331 |
1.07e-34 |
SMART |
|
FA
|
336 |
380 |
1.16e-12 |
SMART |
|
low complexity region
|
412 |
421 |
N/A |
INTRINSIC |
|
coiled coil region
|
482 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163147
AA Change: V300I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383
AA Change: V300I
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
39 |
235 |
8.64e-68 |
SMART |
|
FERM_C
|
239 |
331 |
1.07e-34 |
SMART |
|
FA
|
336 |
380 |
1.16e-12 |
SMART |
|
low complexity region
|
420 |
429 |
N/A |
INTRINSIC |
|
coiled coil region
|
490 |
520 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191046
AA Change: V300I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140227
Gene: ENSMUSG00000026383
AA Change: V300I
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
39 |
235 |
8.64e-68 |
SMART |
|
FERM_C
|
239 |
331 |
1.07e-34 |
SMART |
|
FA
|
336 |
380 |
1.16e-12 |
SMART |
|
low complexity region
|
412 |
421 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0926 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a number of different mutations exhibit prenatal lethality and mesodermal and epithelial-mesenchymal transition defects during gastrulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,859,576 (GRCm39) |
V341A |
possibly damaging |
Het |
| Adam11 |
T |
C |
11: 102,660,943 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
G |
T |
1: 58,322,759 (GRCm39) |
|
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,044,838 (GRCm39) |
D428G |
probably damaging |
Het |
| Cep63 |
T |
C |
9: 102,479,696 (GRCm39) |
T339A |
probably benign |
Het |
| Clcn1 |
T |
C |
6: 42,267,112 (GRCm39) |
Y66H |
probably damaging |
Het |
| Cpsf2 |
C |
G |
12: 101,955,069 (GRCm39) |
S280C |
probably damaging |
Het |
| Dcaf6 |
G |
T |
1: 165,250,421 (GRCm39) |
|
probably benign |
Het |
| Ddx39a |
T |
A |
8: 84,449,335 (GRCm39) |
N344K |
possibly damaging |
Het |
| Dvl1 |
T |
C |
4: 155,932,316 (GRCm39) |
V42A |
possibly damaging |
Het |
| Ep400 |
A |
G |
5: 110,841,096 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
T |
G |
15: 85,149,454 (GRCm39) |
I617S |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Grin3a |
G |
A |
4: 49,665,243 (GRCm39) |
R1131W |
probably benign |
Het |
| Incenp |
T |
A |
19: 9,861,143 (GRCm39) |
M480L |
unknown |
Het |
| Ints13 |
G |
T |
6: 146,476,205 (GRCm39) |
Q99K |
possibly damaging |
Het |
| L2hgdh |
C |
T |
12: 69,768,858 (GRCm39) |
D85N |
probably benign |
Het |
| Lct |
A |
G |
1: 128,215,345 (GRCm39) |
Y1744H |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,255,236 (GRCm39) |
|
probably null |
Het |
| Mpdz |
A |
T |
4: 81,203,695 (GRCm39) |
|
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,367,471 (GRCm39) |
L498P |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,925 (GRCm39) |
E45D |
probably benign |
Het |
| Nedd4l |
T |
A |
18: 65,312,049 (GRCm39) |
N405K |
probably benign |
Het |
| Or4l15 |
A |
G |
14: 50,198,161 (GRCm39) |
Y123H |
probably damaging |
Het |
| Or8u10 |
C |
T |
2: 85,916,053 (GRCm39) |
V23I |
probably benign |
Het |
| Pitpnc1 |
A |
G |
11: 107,103,350 (GRCm39) |
S250P |
possibly damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,184,742 (GRCm39) |
D131G |
probably damaging |
Het |
| Prdm5 |
A |
G |
6: 65,913,069 (GRCm39) |
D206G |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,244,303 (GRCm39) |
F455S |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,804,338 (GRCm39) |
Y565F |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,745,071 (GRCm39) |
N3852D |
probably damaging |
Het |
| S1pr5 |
A |
T |
9: 21,156,286 (GRCm39) |
C47S |
probably damaging |
Het |
| Serpinf2 |
T |
C |
11: 75,328,354 (GRCm39) |
R65G |
probably benign |
Het |
| Slfn14 |
C |
T |
11: 83,167,519 (GRCm39) |
W665* |
probably null |
Het |
| Smu1 |
T |
C |
4: 40,745,567 (GRCm39) |
D251G |
probably damaging |
Het |
| Spata18 |
A |
G |
5: 73,836,423 (GRCm39) |
|
probably benign |
Het |
| Tex19.2 |
A |
G |
11: 121,007,557 (GRCm39) |
V297A |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,816,457 (GRCm39) |
|
probably null |
Het |
| Trim9 |
T |
C |
12: 70,301,887 (GRCm39) |
R584G |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,686,342 (GRCm39) |
N295K |
possibly damaging |
Het |
| Ugt2a3 |
A |
G |
5: 87,473,534 (GRCm39) |
V461A |
probably benign |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,724 (GRCm39) |
M82K |
probably benign |
Het |
|
| Other mutations in Epb41l5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01103:Epb41l5
|
APN |
1 |
119,495,577 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01983:Epb41l5
|
APN |
1 |
119,506,814 (GRCm39) |
splice site |
probably benign |
|
|
IGL02085:Epb41l5
|
APN |
1 |
119,500,586 (GRCm39) |
missense |
probably benign |
|
|
IGL02834:Epb41l5
|
APN |
1 |
119,551,685 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02975:Epb41l5
|
APN |
1 |
119,506,811 (GRCm39) |
splice site |
probably benign |
|
|
IGL03001:Epb41l5
|
APN |
1 |
119,545,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03331:Epb41l5
|
APN |
1 |
119,545,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Epb41l5
|
UTSW |
1 |
119,551,641 (GRCm39) |
splice site |
probably benign |
|
|
R0124:Epb41l5
|
UTSW |
1 |
119,561,370 (GRCm39) |
nonsense |
probably null |
|
|
R0128:Epb41l5
|
UTSW |
1 |
119,477,632 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0130:Epb41l5
|
UTSW |
1 |
119,477,632 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0241:Epb41l5
|
UTSW |
1 |
119,495,509 (GRCm39) |
splice site |
probably null |
|
|
R0357:Epb41l5
|
UTSW |
1 |
119,536,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0624:Epb41l5
|
UTSW |
1 |
119,551,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0711:Epb41l5
|
UTSW |
1 |
119,551,641 (GRCm39) |
splice site |
probably benign |
|
|
R0848:Epb41l5
|
UTSW |
1 |
119,477,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1340:Epb41l5
|
UTSW |
1 |
119,476,861 (GRCm39) |
makesense |
probably null |
|
|
R1401:Epb41l5
|
UTSW |
1 |
119,506,634 (GRCm39) |
splice site |
probably benign |
|
|
R1416:Epb41l5
|
UTSW |
1 |
119,477,606 (GRCm39) |
splice site |
probably benign |
|
|
R1452:Epb41l5
|
UTSW |
1 |
119,476,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Epb41l5
|
UTSW |
1 |
119,477,752 (GRCm39) |
splice site |
probably benign |
|
|
R1889:Epb41l5
|
UTSW |
1 |
119,476,902 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1895:Epb41l5
|
UTSW |
1 |
119,476,902 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3742:Epb41l5
|
UTSW |
1 |
119,532,973 (GRCm39) |
missense |
probably benign |
|
|
R4194:Epb41l5
|
UTSW |
1 |
119,535,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Epb41l5
|
UTSW |
1 |
119,523,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4983:Epb41l5
|
UTSW |
1 |
119,482,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6825:Epb41l5
|
UTSW |
1 |
119,547,931 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6943:Epb41l5
|
UTSW |
1 |
119,536,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Epb41l5
|
UTSW |
1 |
119,536,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7334:Epb41l5
|
UTSW |
1 |
119,551,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8553:Epb41l5
|
UTSW |
1 |
119,477,671 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8904:Epb41l5
|
UTSW |
1 |
119,547,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Epb41l5
|
UTSW |
1 |
119,570,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Epb41l5
|
UTSW |
1 |
119,570,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9258:Epb41l5
|
UTSW |
1 |
119,506,701 (GRCm39) |
missense |
probably benign |
|
|
R9351:Epb41l5
|
UTSW |
1 |
119,477,639 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9366:Epb41l5
|
UTSW |
1 |
119,548,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9370:Epb41l5
|
UTSW |
1 |
119,561,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9680:Epb41l5
|
UTSW |
1 |
119,535,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9779:Epb41l5
|
UTSW |
1 |
119,545,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Epb41l5
|
UTSW |
1 |
119,536,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGTGGATATCTTTGGCAAC -3'
(R):5'- ACCTTGGAAAGTGTCAGGTG -3'
Sequencing Primer
(F):5'- CTTTTCTACCCCAGTAAAATCAAGAG -3'
(R):5'- TGCTGAGAACCAATCGTGTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation