Incidental Mutation 'R5303:Epb41l3'
ID |
404384 |
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 |
042886-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5303 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
69382678-69596984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 69564444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glutamine
at position 390
(E390Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080208]
[ENSMUST00000112680]
[ENSMUST00000225977]
[ENSMUST00000225740]
|
AlphaFold |
Q9WV92 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080208
AA Change: E390Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079098 Gene: ENSMUSG00000024044 AA Change: E390Q
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: E390Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108300 Gene: ENSMUSG00000024044 AA Change: E390Q
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: E189Q
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223816
|
Predicted Effect |
unknown
Transcript: ENSMUST00000224523
AA Change: E93Q
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224951
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225209
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225977
AA Change: E390Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225316
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225740
|
Meta Mutation Damage Score |
0.7458 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
98% (63/64) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
4921504E06Rik |
A |
G |
2: 19,521,110 (GRCm39) |
Y256H |
possibly damaging |
Het |
Abcc12 |
C |
A |
8: 87,236,415 (GRCm39) |
R1133L |
probably benign |
Het |
Acss3 |
T |
A |
10: 106,920,712 (GRCm39) |
T133S |
possibly damaging |
Het |
Adra1d |
G |
A |
2: 131,388,169 (GRCm39) |
P462L |
possibly damaging |
Het |
Ank2 |
A |
T |
3: 126,739,453 (GRCm39) |
|
probably benign |
Het |
Arid2 |
G |
A |
15: 96,290,349 (GRCm39) |
R1748Q |
probably damaging |
Het |
B3glct |
C |
T |
5: 149,677,488 (GRCm39) |
|
probably benign |
Het |
C3ar1 |
A |
T |
6: 122,826,794 (GRCm39) |
S474R |
probably damaging |
Het |
Cd1d1 |
A |
G |
3: 86,905,427 (GRCm39) |
F189L |
probably benign |
Het |
Cd46 |
T |
C |
1: 194,744,707 (GRCm39) |
I344V |
probably benign |
Het |
Chrna1 |
T |
C |
2: 73,396,618 (GRCm39) |
M426V |
probably benign |
Het |
Cinp |
G |
A |
12: 110,843,295 (GRCm39) |
T139M |
probably damaging |
Het |
Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
Disp2 |
T |
C |
2: 118,641,329 (GRCm39) |
|
probably benign |
Het |
Dnaaf6rt |
G |
A |
1: 31,262,537 (GRCm39) |
R173H |
probably damaging |
Het |
Eapp |
G |
A |
12: 54,739,703 (GRCm39) |
P38L |
probably damaging |
Het |
Eif4g3 |
T |
C |
4: 137,853,873 (GRCm39) |
S480P |
probably benign |
Het |
Fermt1 |
T |
C |
2: 132,753,259 (GRCm39) |
|
probably null |
Het |
Foxf2 |
T |
A |
13: 31,810,463 (GRCm39) |
F134Y |
possibly damaging |
Het |
Foxp2 |
T |
A |
6: 15,324,636 (GRCm39) |
C95S |
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gria1 |
A |
G |
11: 57,133,851 (GRCm39) |
T577A |
probably benign |
Het |
Hal |
A |
G |
10: 93,352,227 (GRCm39) |
|
probably benign |
Het |
Hdac7 |
C |
A |
15: 97,695,899 (GRCm39) |
E670D |
probably damaging |
Het |
Islr2 |
A |
T |
9: 58,115,558 (GRCm39) |
|
probably benign |
Het |
Itpr3 |
T |
C |
17: 27,335,663 (GRCm39) |
Y2258H |
probably benign |
Het |
Mical3 |
G |
T |
6: 120,936,941 (GRCm39) |
T1195K |
probably benign |
Het |
Myh1 |
T |
C |
11: 67,092,843 (GRCm39) |
S46P |
probably benign |
Het |
Mylk3 |
T |
A |
8: 86,077,105 (GRCm39) |
I444F |
probably damaging |
Het |
Nlrc3 |
A |
T |
16: 3,781,478 (GRCm39) |
C644S |
probably benign |
Het |
Notch1 |
C |
T |
2: 26,368,631 (GRCm39) |
V553M |
probably benign |
Het |
Or10g9 |
A |
G |
9: 39,911,884 (GRCm39) |
I213T |
probably damaging |
Het |
Or4a72 |
T |
A |
2: 89,405,345 (GRCm39) |
I242F |
possibly damaging |
Het |
Or51a43 |
T |
C |
7: 103,718,239 (GRCm39) |
|
probably benign |
Het |
Or5b102 |
T |
A |
19: 13,041,139 (GRCm39) |
Y121* |
probably null |
Het |
Postn |
A |
G |
3: 54,285,018 (GRCm39) |
T669A |
probably damaging |
Het |
Ppp5c |
G |
T |
7: 16,739,209 (GRCm39) |
Q472K |
probably benign |
Het |
Qsox1 |
T |
C |
1: 155,655,039 (GRCm39) |
H708R |
probably benign |
Het |
Rhbdl2 |
A |
G |
4: 123,704,014 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,767,907 (GRCm39) |
E2884K |
probably damaging |
Het |
Saysd1 |
T |
C |
14: 20,133,026 (GRCm39) |
T44A |
probably benign |
Het |
Septin14 |
T |
A |
5: 129,766,712 (GRCm39) |
M290L |
possibly damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc38a8 |
C |
A |
8: 120,212,780 (GRCm39) |
V294L |
possibly damaging |
Het |
Spdye4b |
C |
T |
5: 143,188,158 (GRCm39) |
T217I |
probably benign |
Het |
Sugp2 |
T |
A |
8: 70,694,827 (GRCm39) |
|
probably benign |
Het |
Syne1 |
T |
C |
10: 5,370,464 (GRCm39) |
T232A |
probably benign |
Het |
Tbc1d5 |
A |
T |
17: 51,043,228 (GRCm39) |
D753E |
probably benign |
Het |
Tmed1 |
G |
T |
9: 21,421,343 (GRCm39) |
Q44K |
possibly damaging |
Het |
Ttc6 |
T |
A |
12: 57,622,606 (GRCm39) |
S2T |
possibly damaging |
Het |
Ube4b |
T |
C |
4: 149,468,260 (GRCm39) |
D172G |
probably damaging |
Het |
Vmn1r235 |
C |
A |
17: 21,482,268 (GRCm39) |
Q198K |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,100,849 (GRCm39) |
H256R |
probably damaging |
Het |
Zfat |
A |
T |
15: 67,982,335 (GRCm39) |
H1059Q |
probably damaging |
Het |
Zfp758 |
A |
G |
17: 22,593,842 (GRCm39) |
I77M |
probably benign |
Het |
Zfp850 |
C |
T |
7: 27,707,838 (GRCm39) |
A2T |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,621,830 (GRCm39) |
N188K |
probably damaging |
Het |
Zyg11a |
C |
T |
4: 108,041,629 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- AGCGTTAGGATGGACTCTTAAG -3'
(R):5'- AGTGAGGCGTGTCTCCTTA -3'
Sequencing Primer
(F):5'- CTGTATGTTATTATCTGCAGAGT -3'
(R):5'- GCCTCCATGTGTAAAGTGACATGC -3'
|
Posted On |
2016-07-22 |