Incidental Mutation 'IGL02834:Epb41l5'
ID |
361559 |
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 # |
IGL02834
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
119472767-119576730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 119551685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 100
(G100D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140227
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027632]
[ENSMUST00000052404]
[ENSMUST00000163147]
[ENSMUST00000187194]
[ENSMUST00000191046]
|
AlphaFold |
Q8BGS1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027632
AA Change: G100D
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000027632 Gene: ENSMUSG00000026383 AA Change: G100D
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 benign
Transcript: ENSMUST00000052404
AA Change: G100D
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000058966 Gene: ENSMUSG00000026383 AA Change: G100D
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: G100D
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000128374 Gene: ENSMUSG00000026383 AA Change: G100D
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 benign
Transcript: ENSMUST00000187194
AA Change: G100D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000139683 Gene: ENSMUSG00000026383 AA Change: G100D
Domain | Start | End | E-Value | Type |
Pfam:FERM_N
|
47 |
114 |
1.7e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189042
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191046
AA Change: G100D
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000140227 Gene: ENSMUSG00000026383 AA Change: G100D
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 |
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap10 |
A |
T |
8: 78,091,729 (GRCm39) |
L430Q |
probably damaging |
Het |
Cc2d2a |
C |
T |
5: 43,871,863 (GRCm39) |
R900* |
probably null |
Het |
Cd14 |
A |
G |
18: 36,858,556 (GRCm39) |
Y300H |
probably benign |
Het |
Dgcr8 |
T |
A |
16: 18,090,623 (GRCm39) |
T584S |
probably benign |
Het |
Fat4 |
G |
A |
3: 39,010,893 (GRCm39) |
G1998R |
probably damaging |
Het |
Fndc3b |
A |
T |
3: 27,562,652 (GRCm39) |
L279H |
probably damaging |
Het |
Gabrr1 |
A |
G |
4: 33,151,426 (GRCm39) |
E114G |
probably damaging |
Het |
Gpr141b |
A |
T |
13: 19,914,045 (GRCm39) |
|
noncoding transcript |
Het |
Hrh2 |
A |
G |
13: 54,369,019 (GRCm39) |
R332G |
probably benign |
Het |
Kif5a |
T |
C |
10: 127,081,625 (GRCm39) |
I180V |
probably benign |
Het |
Lyg2 |
T |
A |
1: 37,949,048 (GRCm39) |
R105W |
probably damaging |
Het |
Myc |
A |
G |
15: 61,859,515 (GRCm39) |
I64V |
probably damaging |
Het |
Nrcam |
G |
A |
12: 44,587,858 (GRCm39) |
|
probably null |
Het |
Ogdhl |
A |
G |
14: 32,047,903 (GRCm39) |
Y51C |
probably damaging |
Het |
Or13p5 |
C |
T |
4: 118,591,803 (GRCm39) |
L26F |
probably benign |
Het |
Or51m1 |
T |
A |
7: 103,578,601 (GRCm39) |
C190* |
probably null |
Het |
Pdlim3 |
A |
G |
8: 46,370,569 (GRCm39) |
R290G |
probably benign |
Het |
Ppm1l |
G |
A |
3: 69,456,676 (GRCm39) |
A198T |
probably damaging |
Het |
Prkd2 |
A |
G |
7: 16,579,859 (GRCm39) |
D119G |
probably damaging |
Het |
Rapgef3 |
A |
T |
15: 97,646,146 (GRCm39) |
I820N |
probably damaging |
Het |
Scnn1b |
A |
G |
7: 121,511,285 (GRCm39) |
Y324C |
probably damaging |
Het |
Smc5 |
G |
A |
19: 23,234,968 (GRCm39) |
R289C |
probably benign |
Het |
Vmn2r51 |
T |
A |
7: 9,832,063 (GRCm39) |
R508* |
probably null |
Het |
Vps13c |
A |
T |
9: 67,845,137 (GRCm39) |
I2074L |
probably benign |
Het |
Wdr64 |
T |
C |
1: 175,633,415 (GRCm39) |
|
probably benign |
Het |
Ydjc |
C |
T |
16: 16,965,153 (GRCm39) |
P74L |
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 |
|
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 |
2015-12-18 |