Incidental Mutation 'IGL01103:Epb41l5'
ID |
50272 |
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 # |
IGL01103
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
119472767-119576730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119495577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 588
(D588G)
|
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: D580G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000058966 Gene: ENSMUSG00000026383 AA Change: D580G
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: D588G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000128374 Gene: ENSMUSG00000026383 AA Change: D588G
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Calhm6 |
A |
T |
10: 34,002,361 (GRCm39) |
C241S |
probably benign |
Het |
Cdh3 |
A |
G |
8: 107,281,937 (GRCm39) |
Y775C |
probably damaging |
Het |
Clip2 |
A |
G |
5: 134,521,204 (GRCm39) |
S980P |
possibly damaging |
Het |
Ddx51 |
C |
T |
5: 110,803,729 (GRCm39) |
A375V |
probably benign |
Het |
Eif4e |
A |
G |
3: 138,253,412 (GRCm39) |
|
probably benign |
Het |
Fer1l4 |
C |
T |
2: 155,886,361 (GRCm39) |
|
probably null |
Het |
Fli1 |
T |
C |
9: 32,335,236 (GRCm39) |
N399D |
probably benign |
Het |
Gm20422 |
T |
C |
8: 70,195,776 (GRCm39) |
T168A |
possibly damaging |
Het |
Kcnk12 |
C |
T |
17: 88,054,195 (GRCm39) |
G156R |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,902,283 (GRCm39) |
S309T |
probably damaging |
Het |
Lcp1 |
T |
A |
14: 75,464,533 (GRCm39) |
|
probably null |
Het |
Neo1 |
A |
G |
9: 58,788,082 (GRCm39) |
C1324R |
possibly damaging |
Het |
Nin |
G |
A |
12: 70,103,532 (GRCm39) |
T236I |
probably damaging |
Het |
Npy6r |
A |
G |
18: 44,408,585 (GRCm39) |
E2G |
probably benign |
Het |
Numa1 |
T |
C |
7: 101,650,778 (GRCm39) |
V136A |
probably benign |
Het |
Pcdhb8 |
A |
G |
18: 37,490,253 (GRCm39) |
K644E |
probably damaging |
Het |
Polr3h |
T |
A |
15: 81,806,697 (GRCm39) |
N41Y |
probably damaging |
Het |
Prrx1 |
T |
C |
1: 163,089,531 (GRCm39) |
T99A |
probably damaging |
Het |
Prss1l |
T |
A |
6: 41,374,091 (GRCm39) |
V231D |
probably damaging |
Het |
Rbm18 |
G |
A |
2: 36,024,184 (GRCm39) |
R26* |
probably null |
Het |
Repin1 |
G |
T |
6: 48,574,887 (GRCm39) |
|
probably benign |
Het |
Rnase1 |
T |
C |
14: 51,383,079 (GRCm39) |
N92D |
probably benign |
Het |
Sidt1 |
A |
T |
16: 44,063,906 (GRCm39) |
C782* |
probably null |
Het |
Slc27a6 |
T |
A |
18: 58,689,836 (GRCm39) |
S101T |
probably benign |
Het |
Stard9 |
A |
G |
2: 120,532,328 (GRCm39) |
N2862D |
possibly damaging |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tril |
A |
G |
6: 53,796,023 (GRCm39) |
Y400H |
probably damaging |
Het |
Trim34b |
T |
C |
7: 103,979,106 (GRCm39) |
C118R |
probably damaging |
Het |
Vwa7 |
T |
C |
17: 35,243,918 (GRCm39) |
V784A |
probably damaging |
Het |
|
Other mutations in Epb41l5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-06-21 |