Incidental Mutation 'IGL02085:Epb41l5'
| ID |
283506 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Epb41l5
|
| Ensembl Gene |
ENSMUSG00000026383 |
| Gene Name |
erythrocyte membrane protein band 4.1 like 5 |
| Synonyms |
E230025E14Rik, 1700030C16Rik, NBL5, Epb4.1l5, Lulu1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
119472767-119576730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119500586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 524
(T524A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052404]
[ENSMUST00000163147]
|
| AlphaFold |
Q8BGS1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052404
AA Change: T516A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383
AA Change: T516A
| 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 benign
Transcript: ENSMUST00000163147
AA Change: T524A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383
AA Change: T524A
| 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 |
noncoding transcript
Transcript: ENSMUST00000191162
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,192,854 (GRCm39) |
|
probably null |
Het |
| Akr1c14 |
T |
A |
13: 4,128,035 (GRCm39) |
C145* |
probably null |
Het |
| Arhgef26 |
A |
G |
3: 62,367,145 (GRCm39) |
|
probably benign |
Het |
| Asb9 |
A |
G |
X: 163,318,452 (GRCm39) |
M215V |
probably benign |
Het |
| Atoh8 |
C |
A |
6: 72,212,157 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b1 |
T |
A |
6: 83,730,897 (GRCm39) |
|
probably benign |
Het |
| Cep97 |
T |
C |
16: 55,735,868 (GRCm39) |
E310G |
probably damaging |
Het |
| Ctrc |
C |
T |
4: 141,571,025 (GRCm39) |
D72N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,349,011 (GRCm39) |
I2492T |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,582,144 (GRCm39) |
V194A |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,313,505 (GRCm39) |
N497S |
possibly damaging |
Het |
| Gabpb1 |
A |
T |
2: 126,481,191 (GRCm39) |
C319* |
probably null |
Het |
| Galnt10 |
A |
G |
11: 57,673,104 (GRCm39) |
T487A |
probably benign |
Het |
| Hecw2 |
T |
A |
1: 53,981,961 (GRCm39) |
|
probably null |
Het |
| Hmg20a |
C |
T |
9: 56,384,586 (GRCm39) |
Q119* |
probably null |
Het |
| Ifi44l |
A |
G |
3: 151,468,477 (GRCm39) |
S18P |
unknown |
Het |
| Immt |
T |
A |
6: 71,828,820 (GRCm39) |
V125E |
probably benign |
Het |
| Ints13 |
T |
C |
6: 146,451,437 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,779,321 (GRCm39) |
G2574S |
probably benign |
Het |
| Myoc |
T |
C |
1: 162,467,343 (GRCm39) |
C171R |
probably benign |
Het |
| Ncbp1 |
C |
T |
4: 46,159,699 (GRCm39) |
T404M |
probably damaging |
Het |
| Npy6r |
A |
G |
18: 44,408,998 (GRCm39) |
N140D |
probably damaging |
Het |
| Nrxn2 |
A |
T |
19: 6,542,898 (GRCm39) |
M1041L |
possibly damaging |
Het |
| Nsmaf |
G |
A |
4: 6,398,551 (GRCm39) |
P851L |
probably benign |
Het |
| Nutm2 |
T |
A |
13: 50,627,829 (GRCm39) |
|
probably null |
Het |
| Or10ak8 |
A |
G |
4: 118,773,947 (GRCm39) |
F239S |
probably damaging |
Het |
| Or2g25 |
A |
G |
17: 37,970,579 (GRCm39) |
V215A |
probably benign |
Het |
| Or4f61 |
A |
C |
2: 111,922,869 (GRCm39) |
M59R |
probably damaging |
Het |
| Padi2 |
T |
G |
4: 140,654,468 (GRCm39) |
Y206* |
probably null |
Het |
| Pcdh19 |
A |
T |
X: 132,582,007 (GRCm39) |
Y766* |
probably null |
Het |
| Pde12 |
A |
G |
14: 26,387,619 (GRCm39) |
|
probably benign |
Het |
| Ppl |
C |
T |
16: 4,907,680 (GRCm39) |
G872R |
probably benign |
Het |
| Prkag3 |
C |
T |
1: 74,787,971 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
T |
C |
3: 151,541,437 (GRCm39) |
T24A |
probably benign |
Het |
| Rpe65 |
T |
C |
3: 159,321,283 (GRCm39) |
V365A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,388,118 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
T |
C |
6: 142,032,200 (GRCm39) |
T642A |
probably benign |
Het |
| Slco6d1 |
C |
A |
1: 98,371,468 (GRCm39) |
P275T |
probably damaging |
Het |
| Smarca1 |
G |
T |
X: 46,964,109 (GRCm39) |
Q343K |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,567,495 (GRCm39) |
T180A |
possibly damaging |
Het |
| Tfrc |
G |
A |
16: 32,440,004 (GRCm39) |
V406I |
probably benign |
Het |
| Tigit |
C |
T |
16: 43,469,473 (GRCm39) |
G206D |
probably benign |
Het |
| Triobp |
G |
A |
15: 78,858,497 (GRCm39) |
|
probably benign |
Het |
| Trmo |
T |
C |
4: 46,380,217 (GRCm39) |
Y384C |
probably damaging |
Het |
| Vmn1r89 |
T |
A |
7: 12,953,465 (GRCm39) |
I67N |
probably damaging |
Het |
| Wdr17 |
C |
A |
8: 55,140,771 (GRCm39) |
E194* |
probably null |
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 |
|
|
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 |
|
R3082:Epb41l5
|
UTSW |
1 |
119,536,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation