Incidental Mutation 'R5286:Epb41l3'
ID |
424380 |
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 |
042870-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5286 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
69382678-69596984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 69569268 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 504
(R504H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080208]
[ENSMUST00000112680]
[ENSMUST00000225977]
[ENSMUST00000225740]
|
AlphaFold |
Q9WV92 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080208
AA Change: R504H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000079098 Gene: ENSMUSG00000024044 AA Change: R504H
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: R504H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108300 Gene: ENSMUSG00000024044 AA Change: R504H
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: R285H
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223816
|
Predicted Effect |
unknown
Transcript: ENSMUST00000224523
AA Change: R207H
|
Predicted Effect |
unknown
Transcript: ENSMUST00000224951
AA Change: R28H
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225209
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225977
AA Change: R504H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225316
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225740
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (64/64) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad12 |
T |
C |
5: 121,742,358 (GRCm39) |
I417V |
probably benign |
Het |
Adad1 |
T |
C |
3: 37,119,399 (GRCm39) |
V160A |
possibly damaging |
Het |
Adcy7 |
A |
G |
8: 89,051,487 (GRCm39) |
E869G |
probably damaging |
Het |
Birc6 |
G |
A |
17: 74,977,242 (GRCm39) |
A4352T |
probably damaging |
Het |
Brd2 |
T |
A |
17: 34,334,205 (GRCm39) |
T286S |
probably damaging |
Het |
Bsn |
G |
T |
9: 107,988,123 (GRCm39) |
|
probably benign |
Het |
Cables1 |
A |
G |
18: 12,057,884 (GRCm39) |
T335A |
probably benign |
Het |
Cacna1d |
A |
T |
14: 30,072,682 (GRCm39) |
S98T |
possibly damaging |
Het |
Ccdc181 |
A |
G |
1: 164,105,810 (GRCm39) |
Y15C |
probably damaging |
Het |
Dlgap4 |
T |
G |
2: 156,587,839 (GRCm39) |
V39G |
probably damaging |
Het |
Fbxo7 |
T |
C |
10: 85,857,954 (GRCm39) |
L23P |
probably damaging |
Het |
Gm42791 |
A |
C |
5: 148,887,178 (GRCm39) |
|
probably benign |
Het |
Gprc5b |
A |
T |
7: 118,582,910 (GRCm39) |
F320I |
possibly damaging |
Het |
Gtf3c1 |
G |
A |
7: 125,262,580 (GRCm39) |
T1093M |
possibly damaging |
Het |
Hddc3 |
G |
T |
7: 79,993,543 (GRCm39) |
R83L |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,055,318 (GRCm39) |
|
probably benign |
Het |
Ift25 |
T |
A |
4: 107,136,998 (GRCm39) |
I132N |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,895,599 (GRCm39) |
K1656E |
probably benign |
Het |
Itk |
A |
C |
11: 46,228,926 (GRCm39) |
|
probably null |
Het |
Klra6 |
G |
A |
6: 129,995,932 (GRCm39) |
T142I |
probably benign |
Het |
Knop1 |
C |
T |
7: 118,454,993 (GRCm39) |
A3T |
probably damaging |
Het |
Lamc3 |
A |
G |
2: 31,808,608 (GRCm39) |
H788R |
probably damaging |
Het |
Lrif1 |
A |
G |
3: 106,639,859 (GRCm39) |
R315G |
probably damaging |
Het |
Mfap3l |
A |
G |
8: 61,109,903 (GRCm39) |
D93G |
probably benign |
Het |
Ngef |
T |
C |
1: 87,473,552 (GRCm39) |
S77G |
probably benign |
Het |
Nt5dc3 |
T |
C |
10: 86,640,656 (GRCm39) |
S13P |
probably benign |
Het |
Or9s13 |
T |
C |
1: 92,548,084 (GRCm39) |
V152A |
probably benign |
Het |
Pclo |
T |
C |
5: 14,729,761 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,378,368 (GRCm39) |
Q1041* |
probably null |
Het |
Ppl |
G |
A |
16: 4,906,987 (GRCm39) |
R1103* |
probably null |
Het |
Ppp4r3b |
T |
A |
11: 29,161,667 (GRCm39) |
D680E |
probably benign |
Het |
Rasgrf2 |
T |
G |
13: 92,267,941 (GRCm39) |
K21T |
possibly damaging |
Het |
Rev1 |
T |
A |
1: 38,094,407 (GRCm39) |
K1004* |
probably null |
Het |
Rgs9 |
T |
G |
11: 109,130,277 (GRCm39) |
|
probably null |
Het |
Rnf31 |
T |
C |
14: 55,829,693 (GRCm39) |
L86P |
probably damaging |
Het |
Rps13 |
A |
G |
7: 115,933,155 (GRCm39) |
Y18H |
probably damaging |
Het |
Rxfp2 |
T |
C |
5: 149,958,909 (GRCm39) |
F33S |
probably damaging |
Het |
Sfmbt1 |
G |
A |
14: 30,538,777 (GRCm39) |
V799M |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,532,428 (GRCm39) |
V2895D |
probably benign |
Het |
Syn3 |
T |
C |
10: 86,187,428 (GRCm39) |
N232S |
possibly damaging |
Het |
Taok3 |
T |
A |
5: 117,404,140 (GRCm39) |
Y772N |
probably damaging |
Het |
Tspan4 |
A |
G |
7: 141,062,483 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
A |
2: 76,684,530 (GRCm39) |
|
probably benign |
Het |
Vwa3b |
T |
A |
1: 37,084,120 (GRCm39) |
W98R |
probably damaging |
Het |
Vwa5b2 |
A |
T |
16: 20,415,058 (GRCm39) |
D360V |
probably damaging |
Het |
Wdr73 |
A |
T |
7: 80,541,557 (GRCm39) |
D328E |
probably benign |
Het |
Xpo5 |
A |
G |
17: 46,545,406 (GRCm39) |
N824S |
probably benign |
Het |
Zbtb2 |
C |
T |
10: 4,318,566 (GRCm39) |
G487S |
possibly 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 |
|
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 |
|
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'- AATGGTACCACGTGGCATTTCC -3'
(R):5'- GATGCTCCTCCACCTTAGTG -3'
Sequencing Primer
(F):5'- CCGTCTTCTGATTTAACTATTTGGG -3'
(R):5'- GGAGCTGTACCTTTCCC -3'
|
Posted On |
2016-08-04 |