Incidental Mutation 'R1164:Epb41l3'
| ID |
100879 |
| 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 |
039237-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1164 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
69382678-69596984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69581762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 568
(T568A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080208]
[ENSMUST00000112680]
[ENSMUST00000225977]
[ENSMUST00000225740]
[ENSMUST00000225695]
|
| AlphaFold |
Q9WV92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080208
AA Change: T580A
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000079098
Gene: ENSMUSG00000024044
AA Change: T580A
| 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: T590A
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108300
Gene: ENSMUSG00000024044
AA Change: T590A
| 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: T537A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223816
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224523
AA Change: T271A
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224951
AA Change: T74A
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225977
AA Change: T568A
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225316
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225695
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,621,305 (GRCm39) |
M1055K |
probably damaging |
Het |
| Adprh |
A |
T |
16: 38,270,702 (GRCm39) |
D34E |
probably benign |
Het |
| Aldh1a1 |
A |
T |
19: 20,595,310 (GRCm39) |
M80L |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,840,820 (GRCm39) |
D682V |
probably damaging |
Het |
| Atp4a |
T |
A |
7: 30,417,117 (GRCm39) |
L500Q |
probably benign |
Het |
| Atp6v1c2 |
T |
C |
12: 17,358,317 (GRCm39) |
E10G |
probably damaging |
Het |
| B4galt2 |
G |
A |
4: 117,734,141 (GRCm39) |
R299W |
possibly damaging |
Het |
| Bltp3a |
T |
C |
17: 28,114,354 (GRCm39) |
|
probably null |
Het |
| Brinp1 |
A |
C |
4: 68,716,928 (GRCm39) |
S307A |
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,566,874 (GRCm39) |
|
probably null |
Het |
| Ccdc3 |
T |
C |
2: 5,146,077 (GRCm39) |
V137A |
possibly damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,029,594 (GRCm39) |
K156R |
possibly damaging |
Het |
| Cfap77 |
A |
T |
2: 28,852,700 (GRCm39) |
W191R |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,529,304 (GRCm39) |
E427G |
probably damaging |
Het |
| Chrnd |
A |
T |
1: 87,120,267 (GRCm39) |
Y32F |
probably benign |
Het |
| Cks1b |
C |
A |
3: 89,323,249 (GRCm39) |
|
probably benign |
Het |
| Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
| Dip2a |
C |
A |
10: 76,112,231 (GRCm39) |
R1098L |
possibly damaging |
Het |
| Dmbx1 |
T |
A |
4: 115,775,455 (GRCm39) |
H275L |
probably damaging |
Het |
| Dmrt2 |
A |
G |
19: 25,655,357 (GRCm39) |
M319V |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,067,391 (GRCm39) |
Y345C |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,926,103 (GRCm39) |
T668A |
probably benign |
Het |
| Eef1d |
A |
G |
15: 75,774,526 (GRCm39) |
|
probably null |
Het |
| Erc2 |
A |
G |
14: 28,024,929 (GRCm39) |
R603G |
probably damaging |
Het |
| Fam83d |
T |
C |
2: 158,625,170 (GRCm39) |
S254P |
probably damaging |
Het |
| Fcgr4 |
A |
T |
1: 170,856,739 (GRCm39) |
H202L |
possibly damaging |
Het |
| Gm4922 |
C |
T |
10: 18,659,469 (GRCm39) |
A418T |
possibly damaging |
Het |
| Kmo |
A |
G |
1: 175,486,125 (GRCm39) |
H416R |
probably benign |
Het |
| Lao1 |
A |
G |
4: 118,822,602 (GRCm39) |
N174S |
probably benign |
Het |
| Lrwd1 |
A |
T |
5: 136,159,844 (GRCm39) |
H406Q |
probably benign |
Het |
| Magoh |
A |
G |
4: 107,744,459 (GRCm39) |
I143V |
probably benign |
Het |
| Mpz |
A |
G |
1: 170,986,008 (GRCm39) |
H49R |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,400,148 (GRCm39) |
N474S |
probably benign |
Het |
| Ndufb10 |
T |
G |
17: 24,941,757 (GRCm39) |
E68D |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,926,913 (GRCm39) |
D5534G |
possibly damaging |
Het |
| Or13c7d |
T |
C |
4: 43,770,991 (GRCm39) |
T7A |
probably benign |
Het |
| Or14j5 |
T |
A |
17: 38,161,575 (GRCm39) |
F31I |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,132 (GRCm39) |
Y27F |
probably benign |
Het |
| Or4d10 |
A |
T |
19: 12,051,605 (GRCm39) |
Y130* |
probably null |
Het |
| Or52l1 |
A |
T |
7: 104,830,040 (GRCm39) |
F160Y |
probably benign |
Het |
| Or8k30 |
C |
A |
2: 86,339,028 (GRCm39) |
T75K |
probably damaging |
Het |
| Padi1 |
A |
T |
4: 140,559,640 (GRCm39) |
V79E |
possibly damaging |
Het |
| Pdha2 |
A |
G |
3: 140,917,260 (GRCm39) |
Y83H |
probably damaging |
Het |
| Phpt1 |
A |
G |
2: 25,464,727 (GRCm39) |
I42T |
probably damaging |
Het |
| Pot1b |
A |
C |
17: 55,981,085 (GRCm39) |
S310A |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,637,639 (GRCm39) |
V176I |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,114,689 (GRCm39) |
S189P |
probably damaging |
Het |
| Rere |
A |
T |
4: 150,619,341 (GRCm39) |
Q381L |
unknown |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Scn8a |
G |
A |
15: 100,938,043 (GRCm39) |
C1804Y |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,883,312 (GRCm39) |
D307N |
probably benign |
Het |
| Siah2 |
T |
C |
3: 58,583,737 (GRCm39) |
E183G |
probably benign |
Het |
| Smarca5 |
G |
A |
8: 81,437,260 (GRCm39) |
L699F |
probably damaging |
Het |
| Smo |
T |
A |
6: 29,754,718 (GRCm39) |
S263T |
probably benign |
Het |
| Sox2 |
A |
G |
3: 34,704,848 (GRCm39) |
E95G |
probably damaging |
Het |
| T |
T |
C |
17: 8,658,771 (GRCm39) |
S171P |
probably benign |
Het |
| Tmc7 |
G |
T |
7: 118,141,247 (GRCm39) |
A628D |
probably benign |
Het |
| Tmem45a2 |
A |
G |
16: 56,869,789 (GRCm39) |
S52P |
probably damaging |
Het |
| Tubb3 |
C |
T |
8: 124,148,186 (GRCm39) |
A373V |
probably damaging |
Het |
| Upp2 |
A |
G |
2: 58,653,716 (GRCm39) |
Y69C |
probably damaging |
Het |
| Utp4 |
A |
G |
8: 107,627,476 (GRCm39) |
|
probably null |
Het |
| Vmn1r59 |
T |
A |
7: 5,457,410 (GRCm39) |
M117L |
probably benign |
Het |
| Xkr8 |
T |
C |
4: 132,459,722 (GRCm39) |
S19G |
probably benign |
Het |
| Zbed6 |
G |
A |
1: 133,586,941 (GRCm39) |
T132I |
probably damaging |
Het |
| Zbtb24 |
T |
C |
10: 41,340,523 (GRCm39) |
Y518H |
probably damaging |
Het |
| Zfp324 |
T |
C |
7: 12,705,551 (GRCm39) |
I580T |
probably benign |
Het |
| Zfp995 |
G |
A |
17: 22,098,960 (GRCm39) |
H425Y |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation