Incidental Mutation 'R4165:Epb41l3'
| ID |
321710 |
| 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 |
041007-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
69382678-69596984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69514883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 7
(S7P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080208]
[ENSMUST00000112680]
[ENSMUST00000223610]
[ENSMUST00000225062]
[ENSMUST00000225740]
[ENSMUST00000225977]
|
| AlphaFold |
Q9WV92 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080208
AA Change: S7P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079098
Gene: ENSMUSG00000024044
AA Change: S7P
| 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: S7P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108300
Gene: ENSMUSG00000024044
AA Change: S7P
| 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 |
probably benign
Transcript: ENSMUST00000223610
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225316
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225740
AA Change: S7P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225977
AA Change: S7P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.0624 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
97% (38/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,827,044 (GRCm39) |
F4I |
probably damaging |
Het |
| Adamts8 |
G |
T |
9: 30,862,684 (GRCm39) |
E296D |
probably benign |
Het |
| Alg11 |
T |
C |
8: 22,555,573 (GRCm39) |
V278A |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Avil |
C |
T |
10: 126,842,496 (GRCm39) |
Q92* |
probably null |
Het |
| Cfap300 |
A |
T |
9: 8,026,071 (GRCm39) |
L167Q |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,864,522 (GRCm39) |
S36T |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,195,608 (GRCm39) |
T434A |
probably damaging |
Het |
| Gm5174 |
A |
G |
10: 86,492,797 (GRCm39) |
|
noncoding transcript |
Het |
| Gpaa1 |
A |
C |
15: 76,216,667 (GRCm39) |
|
probably benign |
Het |
| Grina |
T |
A |
15: 76,133,529 (GRCm39) |
L334Q |
probably damaging |
Het |
| Gvin-ps5 |
T |
A |
7: 105,929,895 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv15-103 |
G |
T |
6: 68,414,824 (GRCm39) |
G88* |
probably null |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,928,797 (GRCm39) |
I183F |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,432,066 (GRCm39) |
|
probably null |
Het |
| Larp7 |
A |
G |
3: 127,330,611 (GRCm39) |
Y569H |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,460,025 (GRCm39) |
I758F |
probably damaging |
Het |
| Nr1d2 |
T |
C |
14: 18,215,446 (GRCm38) |
I189V |
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,217,008 (GRCm39) |
I668K |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,632,243 (GRCm39) |
N679K |
probably benign |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Prap1 |
T |
A |
7: 139,676,091 (GRCm39) |
V35E |
probably benign |
Het |
| Prdm1 |
T |
A |
10: 44,317,572 (GRCm39) |
Y417F |
probably benign |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rps3 |
T |
C |
7: 99,132,816 (GRCm39) |
I5V |
probably benign |
Het |
| Sema3a |
A |
T |
5: 13,523,364 (GRCm39) |
|
probably null |
Het |
| Serpina3g |
A |
T |
12: 104,206,546 (GRCm39) |
T116S |
probably benign |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc22a28 |
A |
G |
19: 8,040,773 (GRCm39) |
S493P |
possibly damaging |
Het |
| Snapc1 |
G |
T |
12: 74,029,354 (GRCm39) |
|
probably null |
Het |
| Sobp |
C |
T |
10: 42,897,644 (GRCm39) |
G647D |
probably damaging |
Het |
| Tomm22 |
C |
A |
15: 79,555,206 (GRCm39) |
|
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,978,003 (GRCm39) |
|
probably benign |
Het |
| Txnl4a |
T |
A |
18: 80,265,471 (GRCm39) |
M112K |
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,427 (GRCm39) |
F61L |
possibly damaging |
Het |
| Zfp709 |
C |
T |
8: 72,644,649 (GRCm39) |
Q693* |
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 |
|
|
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'- AGCACCGTTGTCTGGTTTTC -3'
(R):5'- GAACGCTGCTCATTGGAAGC -3'
Sequencing Primer
(F):5'- CCGTTGTCTGGTTTTCTGGGTAC -3'
(R):5'- GCTCATTGGAAGCCTTGAGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation