Incidental Mutation 'E0370:Epb41l3'
| ID |
206424 |
| Institutional Source |
Beutler Lab
|
| 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 # |
E0370 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
69382678-69596984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69581799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 580
(N580S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080208]
[ENSMUST00000112680]
[ENSMUST00000225977]
[ENSMUST00000225695]
[ENSMUST00000225740]
|
| AlphaFold |
Q9WV92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080208
AA Change: N592S
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000079098
Gene: ENSMUSG00000024044
AA Change: N592S
| 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 benign
Transcript: ENSMUST00000112680
AA Change: N602S
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108300
Gene: ENSMUSG00000024044
AA Change: N602S
| 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 |
noncoding transcript
Transcript: ENSMUST00000187090
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000223703
AA Change: N549S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223816
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224523
AA Change: N283S
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224951
AA Change: N86S
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225977
AA Change: N580S
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225695
AA Change: N10S
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225316
|
| Meta Mutation Damage Score |
0.0983 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.1%
|
| Validation Efficiency |
100% (33/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
TGCAGCGACTGGACGGCGGCA |
TGCA |
11: 70,507,252 (GRCm39) |
|
probably null |
Het |
| Aire |
T |
A |
10: 77,877,897 (GRCm39) |
N180I |
probably damaging |
Het |
| Asic3 |
G |
T |
5: 24,618,985 (GRCm39) |
L92F |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,984,352 (GRCm39) |
D4455N |
probably damaging |
Het |
| Cd36 |
A |
T |
5: 17,990,747 (GRCm39) |
C464* |
probably null |
Het |
| Cdx1 |
A |
C |
18: 61,153,501 (GRCm39) |
I179S |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,406,441 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
T |
1: 34,288,552 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
A |
T |
17: 33,877,896 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
G |
7: 125,449,474 (GRCm39) |
D846G |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,455,883 (GRCm39) |
|
probably benign |
Het |
| Mapk11 |
T |
C |
15: 89,030,716 (GRCm39) |
D88G |
probably damaging |
Het |
| Mbd4 |
C |
T |
6: 115,826,116 (GRCm39) |
E271K |
possibly damaging |
Het |
| Mpp4 |
T |
G |
1: 59,178,917 (GRCm39) |
|
probably benign |
Het |
| Mtarc1 |
T |
C |
1: 184,527,425 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,282,598 (GRCm39) |
Y609H |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,583,857 (GRCm39) |
D307E |
probably damaging |
Het |
| Pex1 |
T |
A |
5: 3,681,614 (GRCm39) |
|
probably null |
Het |
| Prdm11 |
T |
C |
2: 92,810,924 (GRCm39) |
Y225C |
probably damaging |
Het |
| Psmc3 |
T |
A |
2: 90,885,463 (GRCm39) |
|
probably null |
Het |
| Slc26a8 |
A |
T |
17: 28,861,361 (GRCm39) |
D774E |
possibly damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,802,701 (GRCm39) |
|
probably null |
Het |
| Smc1b |
A |
G |
15: 85,011,782 (GRCm39) |
Y168H |
probably damaging |
Het |
| Steap1 |
T |
C |
5: 5,790,673 (GRCm39) |
R92G |
probably damaging |
Het |
| Tbx22 |
T |
C |
X: 106,728,759 (GRCm39) |
I430T |
probably benign |
Het |
| Tfap4 |
T |
A |
16: 4,377,334 (GRCm39) |
H16L |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,897,917 (GRCm39) |
D855G |
probably damaging |
Het |
| Trip13 |
A |
G |
13: 74,068,558 (GRCm39) |
|
probably benign |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Vmn2r121 |
A |
G |
X: 123,037,617 (GRCm39) |
V801A |
probably benign |
Het |
| Wiz |
C |
T |
17: 32,574,092 (GRCm39) |
R935Q |
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 |
|
IGL03397:Epb41l3
|
APN |
17 |
69,555,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACCCTGATCCAAATTCCATTTC -3'
(R):5'- AGCATCTCGTTCCAGGCATC -3'
Sequencing Primer
(F):5'- GATCCAAATTCCATTTCCGTTTGAC -3'
(R):5'- TCGTTCCAGGCATCACCAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation