Incidental Mutation 'IGL03397:Epb41l3'
ID |
421304 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Epb41l3
|
Ensembl Gene |
ENSMUSG00000024044 |
Gene Name |
erythrocyte membrane protein band 4.1 like 3 |
Synonyms |
4.1B, NBL3, Epb4.1l3, DAL1P |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03397
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
69382678-69596984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69555687 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 304
(Y304C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080208]
[ENSMUST00000112680]
[ENSMUST00000225740]
[ENSMUST00000225977]
|
AlphaFold |
Q9WV92 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080208
AA Change: Y304C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079098 Gene: ENSMUSG00000024044 AA Change: Y304C
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
40 |
N/A |
INTRINSIC |
low complexity region
|
94 |
107 |
N/A |
INTRINSIC |
B41
|
114 |
309 |
1.13e-80 |
SMART |
FERM_C
|
313 |
403 |
3.96e-38 |
SMART |
FA
|
405 |
451 |
2.34e-17 |
SMART |
low complexity region
|
497 |
517 |
N/A |
INTRINSIC |
Pfam:SAB
|
556 |
604 |
2.1e-29 |
PFAM |
low complexity region
|
789 |
802 |
N/A |
INTRINSIC |
Pfam:4_1_CTD
|
809 |
922 |
1.9e-59 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112680
AA Change: Y304C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108300 Gene: ENSMUSG00000024044 AA Change: Y304C
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
40 |
N/A |
INTRINSIC |
low complexity region
|
94 |
107 |
N/A |
INTRINSIC |
B41
|
114 |
309 |
1.13e-80 |
SMART |
FERM_C
|
313 |
403 |
3.96e-38 |
SMART |
FA
|
405 |
451 |
2.34e-17 |
SMART |
low complexity region
|
497 |
517 |
N/A |
INTRINSIC |
Pfam:SAB
|
566 |
614 |
3.2e-28 |
PFAM |
low complexity region
|
799 |
812 |
N/A |
INTRINSIC |
Pfam:4_1_CTD
|
825 |
931 |
2.9e-55 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000223703
AA Change: Y103C
|
Predicted Effect |
unknown
Transcript: ENSMUST00000224523
AA Change: Y7C
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225316
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225604
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225740
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225977
AA Change: Y304C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for one knock-out allele display a normal phenotype. Mice homozygous for a different knock-out allele exhibit ataxia, gait abnormalities, clasping, hypermyelination, abnormal axon morphology, and decreased internode length. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,772,743 (GRCm39) |
Y51F |
probably benign |
Het |
Ankrd42 |
G |
A |
7: 92,268,762 (GRCm39) |
L194F |
probably damaging |
Het |
Ccdc81 |
G |
T |
7: 89,546,036 (GRCm39) |
T56N |
probably damaging |
Het |
Cdh10 |
T |
C |
15: 18,964,114 (GRCm39) |
I92T |
probably damaging |
Het |
Csta3 |
A |
T |
16: 36,033,984 (GRCm39) |
I55F |
probably damaging |
Het |
Eif2b4 |
A |
G |
5: 31,344,997 (GRCm39) |
I550T |
probably damaging |
Het |
Gm10244 |
A |
G |
6: 39,397,740 (GRCm39) |
|
probably benign |
Het |
H2bc14 |
T |
C |
13: 21,906,551 (GRCm39) |
I95T |
possibly damaging |
Het |
Lrrc74a |
T |
C |
12: 86,805,312 (GRCm39) |
V378A |
probably benign |
Het |
Mcm6 |
C |
T |
1: 128,272,039 (GRCm39) |
D453N |
probably damaging |
Het |
Mctp2 |
A |
G |
7: 71,909,025 (GRCm39) |
L96P |
probably damaging |
Het |
Nlrp5 |
G |
A |
7: 23,112,759 (GRCm39) |
V139M |
probably damaging |
Het |
Nrcam |
T |
G |
12: 44,606,540 (GRCm39) |
S429A |
probably damaging |
Het |
Or5an11 |
C |
A |
19: 12,245,866 (GRCm39) |
Q91K |
probably benign |
Het |
Pdgfrb |
A |
T |
18: 61,212,753 (GRCm39) |
T886S |
probably benign |
Het |
Rapgef5 |
T |
A |
12: 117,712,176 (GRCm39) |
F754L |
probably damaging |
Het |
Sbf1 |
T |
C |
15: 89,172,924 (GRCm39) |
K1863R |
probably damaging |
Het |
Sis |
T |
C |
3: 72,843,212 (GRCm39) |
T751A |
probably benign |
Het |
Six3 |
G |
T |
17: 85,929,074 (GRCm39) |
R136L |
probably damaging |
Het |
Slc6a12 |
A |
G |
6: 121,334,004 (GRCm39) |
D280G |
probably damaging |
Het |
Sox2 |
A |
G |
3: 34,704,686 (GRCm39) |
D41G |
probably damaging |
Het |
Stxbp4 |
A |
T |
11: 90,431,060 (GRCm39) |
L417M |
probably damaging |
Het |
Tcam1 |
A |
G |
11: 106,176,212 (GRCm39) |
I313V |
probably benign |
Het |
Tex55 |
G |
A |
16: 38,649,055 (GRCm39) |
P18L |
probably damaging |
Het |
Tgm2 |
T |
C |
2: 157,962,178 (GRCm39) |
Y547C |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,523,901 (GRCm39) |
R312G |
probably benign |
Het |
Tmem94 |
G |
T |
11: 115,678,394 (GRCm39) |
|
probably benign |
Het |
Usp39 |
A |
G |
6: 72,313,296 (GRCm39) |
M298T |
possibly damaging |
Het |
Vmn2r85 |
C |
T |
10: 130,261,263 (GRCm39) |
C358Y |
probably damaging |
Het |
Zscan18 |
A |
T |
7: 12,507,488 (GRCm39) |
S497T |
probably damaging |
Het |
|
Other mutations in Epb41l3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00975:Epb41l3
|
APN |
17 |
69,514,856 (GRCm39) |
splice site |
probably benign |
|
IGL01099:Epb41l3
|
APN |
17 |
69,517,188 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01578:Epb41l3
|
APN |
17 |
69,555,704 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02269:Epb41l3
|
APN |
17 |
69,554,568 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02926:Epb41l3
|
APN |
17 |
69,554,741 (GRCm39) |
missense |
probably damaging |
1.00 |
E0370:Epb41l3
|
UTSW |
17 |
69,581,799 (GRCm39) |
missense |
possibly damaging |
0.73 |
P0031:Epb41l3
|
UTSW |
17 |
69,566,049 (GRCm39) |
nonsense |
probably null |
|
R0032:Epb41l3
|
UTSW |
17 |
69,517,379 (GRCm39) |
critical splice donor site |
probably null |
|
R0056:Epb41l3
|
UTSW |
17 |
69,560,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Epb41l3
|
UTSW |
17 |
69,593,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R0499:Epb41l3
|
UTSW |
17 |
69,554,654 (GRCm39) |
missense |
probably benign |
0.00 |
R0560:Epb41l3
|
UTSW |
17 |
69,581,892 (GRCm39) |
critical splice donor site |
probably null |
|
R1164:Epb41l3
|
UTSW |
17 |
69,581,762 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1170:Epb41l3
|
UTSW |
17 |
69,566,175 (GRCm39) |
nonsense |
probably null |
|
R1397:Epb41l3
|
UTSW |
17 |
69,569,343 (GRCm39) |
critical splice donor site |
probably null |
|
R2080:Epb41l3
|
UTSW |
17 |
69,560,463 (GRCm39) |
missense |
possibly damaging |
0.54 |
R2138:Epb41l3
|
UTSW |
17 |
69,514,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R2279:Epb41l3
|
UTSW |
17 |
69,577,645 (GRCm39) |
missense |
possibly damaging |
0.56 |
R2863:Epb41l3
|
UTSW |
17 |
69,517,316 (GRCm39) |
missense |
probably benign |
0.22 |
R3883:Epb41l3
|
UTSW |
17 |
69,581,111 (GRCm39) |
nonsense |
probably null |
|
R3884:Epb41l3
|
UTSW |
17 |
69,581,111 (GRCm39) |
nonsense |
probably null |
|
R4165:Epb41l3
|
UTSW |
17 |
69,514,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R4795:Epb41l3
|
UTSW |
17 |
69,555,714 (GRCm39) |
critical splice donor site |
probably null |
|
R5286:Epb41l3
|
UTSW |
17 |
69,569,268 (GRCm39) |
missense |
probably benign |
0.00 |
R5303:Epb41l3
|
UTSW |
17 |
69,564,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R5373:Epb41l3
|
UTSW |
17 |
69,593,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R5374:Epb41l3
|
UTSW |
17 |
69,593,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R5938:Epb41l3
|
UTSW |
17 |
69,566,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R6014:Epb41l3
|
UTSW |
17 |
69,590,955 (GRCm39) |
missense |
probably damaging |
0.98 |
R6059:Epb41l3
|
UTSW |
17 |
69,593,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R6059:Epb41l3
|
UTSW |
17 |
69,591,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R7318:Epb41l3
|
UTSW |
17 |
69,573,135 (GRCm39) |
missense |
|
|
R7480:Epb41l3
|
UTSW |
17 |
69,568,867 (GRCm39) |
splice site |
probably null |
|
R7548:Epb41l3
|
UTSW |
17 |
69,517,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R7719:Epb41l3
|
UTSW |
17 |
69,560,409 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7769:Epb41l3
|
UTSW |
17 |
69,545,421 (GRCm39) |
missense |
probably damaging |
0.98 |
R7903:Epb41l3
|
UTSW |
17 |
69,581,332 (GRCm39) |
splice site |
probably null |
|
R8099:Epb41l3
|
UTSW |
17 |
69,554,683 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8175:Epb41l3
|
UTSW |
17 |
69,517,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R8225:Epb41l3
|
UTSW |
17 |
69,581,796 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8364:Epb41l3
|
UTSW |
17 |
69,573,429 (GRCm39) |
critical splice donor site |
probably null |
|
R8540:Epb41l3
|
UTSW |
17 |
69,593,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R8859:Epb41l3
|
UTSW |
17 |
69,591,575 (GRCm39) |
missense |
probably benign |
0.28 |
R8984:Epb41l3
|
UTSW |
17 |
69,554,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R9048:Epb41l3
|
UTSW |
17 |
69,517,218 (GRCm39) |
missense |
probably benign |
0.06 |
X0066:Epb41l3
|
UTSW |
17 |
69,566,153 (GRCm39) |
nonsense |
probably null |
|
Z1088:Epb41l3
|
UTSW |
17 |
69,560,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |