Incidental Mutation 'IGL03001:Epb41l5'
ID |
407367 |
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 # |
IGL03001
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
119472767-119576730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119545374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 179
(H179R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140227
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027632]
[ENSMUST00000052404]
[ENSMUST00000163147]
[ENSMUST00000187194]
[ENSMUST00000191046]
|
AlphaFold |
Q8BGS1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027632
AA Change: H179R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027632 Gene: ENSMUSG00000026383 AA Change: H179R
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: H179R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058966 Gene: ENSMUSG00000026383 AA Change: H179R
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: H179R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128374 Gene: ENSMUSG00000026383 AA Change: H179R
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
|
SMART Domains |
Protein: ENSMUSP00000139683 Gene: ENSMUSG00000026383
Domain | Start | End | E-Value | Type |
Pfam:FERM_N
|
47 |
114 |
1.7e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189042
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191046
AA Change: H179R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140227 Gene: ENSMUSG00000026383 AA Change: H179R
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
C |
7: 78,761,042 (GRCm39) |
D1918A |
probably damaging |
Het |
Ahcy |
C |
A |
2: 154,906,748 (GRCm39) |
D182Y |
probably damaging |
Het |
Aldob |
T |
G |
4: 49,542,844 (GRCm39) |
D110A |
probably damaging |
Het |
Alkbh8 |
A |
T |
9: 3,344,602 (GRCm39) |
M53L |
probably benign |
Het |
Aqr |
T |
C |
2: 113,977,400 (GRCm39) |
D363G |
probably benign |
Het |
Asxl3 |
A |
G |
18: 22,650,455 (GRCm39) |
R815G |
probably damaging |
Het |
Atf4 |
T |
A |
15: 80,140,858 (GRCm39) |
W83R |
probably damaging |
Het |
Baz1a |
A |
T |
12: 54,969,896 (GRCm39) |
M587K |
possibly damaging |
Het |
Btbd8 |
T |
C |
5: 107,645,708 (GRCm39) |
I9T |
probably damaging |
Het |
Cactin |
T |
A |
10: 81,161,568 (GRCm39) |
I700N |
probably damaging |
Het |
Catsperg2 |
T |
C |
7: 29,424,504 (GRCm39) |
S95G |
probably benign |
Het |
Cd1d1 |
C |
T |
3: 86,905,468 (GRCm39) |
S175N |
probably benign |
Het |
Chd4 |
C |
A |
6: 125,078,529 (GRCm39) |
A217E |
possibly damaging |
Het |
Cnbd2 |
T |
C |
2: 156,175,554 (GRCm39) |
|
probably null |
Het |
Cntnap5c |
G |
A |
17: 58,362,634 (GRCm39) |
C329Y |
probably damaging |
Het |
Col12a1 |
C |
T |
9: 79,540,955 (GRCm39) |
G2391R |
probably damaging |
Het |
Col5a3 |
T |
A |
9: 20,719,040 (GRCm39) |
D238V |
unknown |
Het |
Cuedc1 |
T |
C |
11: 88,073,315 (GRCm39) |
V160A |
probably benign |
Het |
Depdc5 |
T |
C |
5: 33,102,434 (GRCm39) |
V342A |
possibly damaging |
Het |
Dnah6 |
T |
C |
6: 73,126,123 (GRCm39) |
D1338G |
probably benign |
Het |
Dpyd |
T |
C |
3: 118,710,891 (GRCm39) |
V433A |
probably benign |
Het |
Fbf1 |
T |
C |
11: 116,056,712 (GRCm39) |
|
probably benign |
Het |
Flnb |
T |
C |
14: 7,934,680 (GRCm38) |
S2251P |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,820,968 (GRCm39) |
|
probably benign |
Het |
Grin2b |
C |
T |
6: 135,716,113 (GRCm39) |
V735M |
probably damaging |
Het |
Itpr3 |
T |
G |
17: 27,308,586 (GRCm39) |
|
probably benign |
Het |
Lingo4 |
C |
T |
3: 94,309,703 (GRCm39) |
R214C |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,817,901 (GRCm39) |
R2329H |
probably damaging |
Het |
Lrrc47 |
T |
C |
4: 154,100,450 (GRCm39) |
L342P |
probably damaging |
Het |
Mmp15 |
T |
C |
8: 96,094,845 (GRCm39) |
S240P |
probably damaging |
Het |
Ndufaf4 |
T |
A |
4: 24,901,747 (GRCm39) |
N95K |
probably benign |
Het |
Nms |
C |
T |
1: 38,980,993 (GRCm39) |
P60S |
probably benign |
Het |
Npas3 |
A |
T |
12: 53,547,975 (GRCm39) |
Y77F |
probably damaging |
Het |
Or2ak7 |
T |
G |
11: 58,574,702 (GRCm39) |
M1R |
probably null |
Het |
Or51f5 |
G |
T |
7: 102,424,460 (GRCm39) |
C243F |
probably damaging |
Het |
Or5d43 |
T |
A |
2: 88,105,189 (GRCm39) |
D68V |
probably damaging |
Het |
Or8d2b |
A |
G |
9: 38,789,374 (GRCm39) |
M301V |
probably benign |
Het |
Or9m2 |
T |
A |
2: 87,820,493 (GRCm39) |
Y13N |
probably benign |
Het |
Or9s27 |
T |
A |
1: 92,516,273 (GRCm39) |
S74T |
probably damaging |
Het |
Picalm |
T |
C |
7: 89,831,454 (GRCm39) |
V429A |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,421,400 (GRCm39) |
I3056N |
probably damaging |
Het |
Pomt1 |
G |
T |
2: 32,134,338 (GRCm39) |
M286I |
probably benign |
Het |
Popdc2 |
A |
T |
16: 38,189,881 (GRCm39) |
Y176F |
probably benign |
Het |
Psg21 |
A |
T |
7: 18,386,410 (GRCm39) |
M192K |
probably benign |
Het |
Psma1 |
C |
A |
7: 113,865,674 (GRCm39) |
A219S |
probably benign |
Het |
Rad21l |
T |
G |
2: 151,510,389 (GRCm39) |
H22P |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,370,767 (GRCm39) |
T4791A |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,712,452 (GRCm39) |
V1609A |
probably benign |
Het |
Sema3e |
T |
A |
5: 14,291,057 (GRCm39) |
S606T |
probably benign |
Het |
Slc16a4 |
A |
T |
3: 107,218,858 (GRCm39) |
R486S |
possibly damaging |
Het |
Slc17a3 |
T |
C |
13: 24,040,767 (GRCm39) |
L331P |
probably damaging |
Het |
Slc38a11 |
A |
T |
2: 65,184,159 (GRCm39) |
V164D |
probably damaging |
Het |
Slc38a6 |
A |
G |
12: 73,383,827 (GRCm39) |
I173V |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,873,604 (GRCm39) |
T1121A |
probably benign |
Het |
Tfcp2 |
T |
C |
15: 100,426,302 (GRCm39) |
D83G |
possibly damaging |
Het |
Thnsl1 |
A |
G |
2: 21,216,455 (GRCm39) |
T70A |
probably damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,398,786 (GRCm39) |
I631V |
probably damaging |
Het |
Tor2a |
C |
A |
2: 32,647,329 (GRCm39) |
H6Q |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,565,267 (GRCm39) |
N19993S |
probably benign |
Het |
Vps53 |
T |
C |
11: 76,029,150 (GRCm39) |
E119G |
probably damaging |
Het |
Zkscan6 |
T |
C |
11: 65,705,495 (GRCm39) |
W69R |
probably damaging |
Het |
Zng1 |
T |
C |
19: 24,900,002 (GRCm39) |
K301E |
probably benign |
Het |
Zswim8 |
T |
C |
14: 20,764,459 (GRCm39) |
S610P |
probably damaging |
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 |
|
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 |
2016-08-02 |