Incidental Mutation 'R0056:Epb41l3'
| ID |
18427 |
| 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 |
| MMRRC Submission |
038350-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0056 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
69382678-69596984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69560392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 313
(D313V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080208]
[ENSMUST00000112680]
[ENSMUST00000225740]
[ENSMUST00000225977]
|
| AlphaFold |
Q9WV92 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080208
AA Change: D313V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079098
Gene: ENSMUSG00000024044
AA Change: D313V
| 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: D313V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108300
Gene: ENSMUSG00000024044
AA Change: D313V
| 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: D112V
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224523
AA Change: D16V
|
| 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: D313V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.9220 |
| Coding Region Coverage |
- 1x: 89.2%
- 3x: 86.3%
- 10x: 78.7%
- 20x: 65.9%
|
| Validation Efficiency |
89% (66/74) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,078,540 (GRCm39) |
C561* |
probably null |
Het |
| Ankfn1 |
A |
G |
11: 89,282,502 (GRCm39) |
S1061P |
possibly damaging |
Het |
| Atp9b |
A |
G |
18: 80,809,018 (GRCm39) |
S634P |
probably damaging |
Het |
| Bche |
A |
T |
3: 73,608,654 (GRCm39) |
N257K |
possibly damaging |
Het |
| Bms1 |
A |
T |
6: 118,382,190 (GRCm39) |
D449E |
probably benign |
Het |
| C630050I24Rik |
G |
T |
8: 107,846,026 (GRCm39) |
V59F |
unknown |
Het |
| Camkk2 |
C |
T |
5: 122,880,261 (GRCm39) |
E452K |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,118 (GRCm39) |
Y278C |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,660,165 (GRCm39) |
H375R |
possibly damaging |
Het |
| Entpd7 |
T |
A |
19: 43,713,733 (GRCm39) |
V364E |
probably benign |
Het |
| Etv6 |
G |
T |
6: 134,225,497 (GRCm39) |
E154* |
probably null |
Het |
| Fshr |
T |
G |
17: 89,295,885 (GRCm39) |
H274P |
probably damaging |
Het |
| G3bp1 |
A |
G |
11: 55,388,867 (GRCm39) |
N360D |
probably benign |
Het |
| Gdf11 |
C |
T |
10: 128,722,294 (GRCm39) |
R187H |
probably benign |
Het |
| Gpihbp1 |
T |
A |
15: 75,468,982 (GRCm39) |
I52N |
probably damaging |
Het |
| H1f8 |
G |
T |
6: 115,923,934 (GRCm39) |
|
probably benign |
Het |
| Htt |
T |
C |
5: 34,983,422 (GRCm39) |
|
probably benign |
Het |
| Iqcm |
A |
G |
8: 76,480,014 (GRCm39) |
Q324R |
probably benign |
Het |
| Kcng3 |
A |
G |
17: 83,895,185 (GRCm39) |
L427P |
probably damaging |
Het |
| Klk7 |
T |
C |
7: 43,461,434 (GRCm39) |
L17P |
possibly damaging |
Het |
| Klrd1 |
G |
A |
6: 129,570,738 (GRCm39) |
V50I |
probably benign |
Het |
| Lama5 |
A |
T |
2: 179,828,899 (GRCm39) |
|
probably benign |
Het |
| Lamtor3 |
T |
A |
3: 137,632,711 (GRCm39) |
|
probably benign |
Het |
| Lyplal1 |
G |
A |
1: 185,820,763 (GRCm39) |
T228I |
probably benign |
Het |
| Mapk6 |
A |
G |
9: 75,296,098 (GRCm39) |
Y467H |
possibly damaging |
Het |
| Marchf6 |
T |
C |
15: 31,467,880 (GRCm39) |
T776A |
possibly damaging |
Het |
| Mogat1 |
T |
G |
1: 78,500,407 (GRCm39) |
M157R |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,357,733 (GRCm39) |
Q13L |
possibly damaging |
Het |
| Myo1h |
C |
T |
5: 114,468,273 (GRCm39) |
T356I |
probably damaging |
Het |
| Ncoa2 |
C |
A |
1: 117,516,497 (GRCm38) |
|
probably null |
Het |
| Nobox |
A |
G |
6: 43,281,853 (GRCm39) |
C407R |
probably benign |
Het |
| Nup58 |
A |
G |
14: 60,476,924 (GRCm39) |
|
probably null |
Het |
| Or56a4 |
A |
G |
7: 104,806,329 (GRCm39) |
S187P |
probably benign |
Het |
| Otoa |
A |
G |
7: 120,730,570 (GRCm39) |
Y590C |
probably benign |
Het |
| Pelp1 |
A |
T |
11: 70,284,658 (GRCm39) |
V1070E |
unknown |
Het |
| Pglyrp3 |
G |
T |
3: 91,933,111 (GRCm39) |
|
probably benign |
Het |
| Plpp2 |
A |
G |
10: 79,363,063 (GRCm39) |
F189S |
probably damaging |
Het |
| Polr2b |
T |
C |
5: 77,482,382 (GRCm39) |
I640T |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,683,924 (GRCm39) |
T3047S |
probably damaging |
Het |
| Snx25 |
A |
T |
8: 46,491,550 (GRCm39) |
W847R |
probably damaging |
Het |
| Son |
T |
C |
16: 91,475,043 (GRCm39) |
Y454H |
possibly damaging |
Het |
| Sos1 |
A |
T |
17: 80,721,050 (GRCm39) |
N923K |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,072,055 (GRCm39) |
H2534R |
probably benign |
Het |
| Ticam2 |
G |
T |
18: 46,693,401 (GRCm39) |
Q229K |
possibly damaging |
Het |
| Tnfaip3 |
A |
T |
10: 18,881,041 (GRCm39) |
V342E |
probably damaging |
Het |
| Traf6 |
A |
G |
2: 101,527,496 (GRCm39) |
I415M |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,893,334 (GRCm39) |
D1062G |
probably damaging |
Het |
| Wdr59 |
C |
T |
8: 112,207,239 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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 |
2013-03-25 |
Incidental Mutation