Incidental Mutation 'R7903:Epb41l3'
| ID |
628706 |
| 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 |
045955-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7903 (G1)
|
| Quality Score |
155.008 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
69382678-69596984 bp(+) (GRCm39) |
| Type of Mutation |
splice site (171 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 69581332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080208]
[ENSMUST00000112680]
[ENSMUST00000225695]
[ENSMUST00000225740]
[ENSMUST00000225977]
|
| AlphaFold |
Q9WV92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080208
|
| SMART Domains |
Protein: ENSMUSP00000079098
Gene: ENSMUSG00000024044
| 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 null
Transcript: ENSMUST00000112680
|
| SMART Domains |
Protein: ENSMUSP00000108300
Gene: ENSMUSG00000024044
| 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: ENSMUST00000223703
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224523
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224951
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225695
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225977
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| 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 |
|---|
| 2700062C07Rik |
T |
C |
18: 24,608,783 (GRCm39) |
|
probably null |
Het |
| Acsm2 |
A |
T |
7: 119,195,215 (GRCm39) |
T596S |
probably benign |
Het |
| Aggf1 |
T |
C |
13: 95,492,966 (GRCm39) |
K548E |
probably damaging |
Het |
| Anapc15 |
T |
G |
7: 101,547,193 (GRCm39) |
V23G |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,308,570 (GRCm39) |
L123P |
probably damaging |
Het |
| Brf2 |
G |
A |
8: 27,616,121 (GRCm39) |
T88M |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccdc14 |
A |
T |
16: 34,525,280 (GRCm39) |
H191L |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,363,499 (GRCm39) |
V453E |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,458,843 (GRCm39) |
K1110E |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,473,680 (GRCm39) |
D421G |
probably damaging |
Het |
| D130043K22Rik |
T |
G |
13: 25,059,995 (GRCm39) |
V622G |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,585,712 (GRCm39) |
V142A |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,641,351 (GRCm39) |
S1190P |
probably damaging |
Het |
| Eif4a3l2 |
A |
G |
6: 116,528,212 (GRCm39) |
T30A |
probably benign |
Het |
| Elavl1 |
T |
C |
8: 4,351,756 (GRCm39) |
K120R |
probably benign |
Het |
| Fubp1 |
G |
A |
3: 151,920,498 (GRCm39) |
W79* |
probably null |
Het |
| Gsto2 |
T |
A |
19: 47,873,096 (GRCm39) |
I157N |
possibly damaging |
Het |
| Gucy2d |
A |
G |
7: 98,108,272 (GRCm39) |
D735G |
probably damaging |
Het |
| H2-D1 |
A |
T |
17: 35,482,967 (GRCm39) |
I166F |
probably damaging |
Het |
| Hars2 |
C |
A |
18: 36,919,245 (GRCm39) |
R128S |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,834,500 (GRCm39) |
F496S |
probably damaging |
Het |
| Inf2 |
T |
C |
12: 112,578,988 (GRCm39) |
V1256A |
unknown |
Het |
| Kif19b |
T |
C |
5: 140,461,767 (GRCm39) |
V523A |
probably damaging |
Het |
| Krt34 |
A |
T |
11: 99,932,321 (GRCm39) |
M1K |
probably null |
Het |
| Lamtor2 |
T |
C |
3: 88,459,817 (GRCm39) |
N26D |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,357,382 (GRCm39) |
T799A |
probably damaging |
Het |
| Map3k8 |
T |
C |
18: 4,349,162 (GRCm39) |
D52G |
probably benign |
Het |
| Mcm10 |
T |
C |
2: 5,000,613 (GRCm39) |
T693A |
probably benign |
Het |
| Mgarp |
G |
T |
3: 51,304,119 (GRCm39) |
A10E |
|
Het |
| Mns1 |
A |
T |
9: 72,360,093 (GRCm39) |
E414D |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,426,265 (GRCm39) |
S341G |
probably null |
Het |
| Nags |
A |
T |
11: 102,037,503 (GRCm39) |
D198V |
possibly damaging |
Het |
| Nedd4l |
C |
T |
18: 65,319,438 (GRCm39) |
P464S |
probably damaging |
Het |
| Nicol1 |
T |
A |
5: 34,140,910 (GRCm39) |
|
probably null |
Het |
| Nsfl1c |
T |
C |
2: 151,338,522 (GRCm39) |
Y42H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,969,942 (GRCm39) |
M67V |
probably benign |
Het |
| Or2b28 |
T |
A |
13: 21,532,046 (GRCm39) |
I316K |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,549,847 (GRCm39) |
L715Q |
probably damaging |
Het |
| Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
| Pfkfb4 |
A |
T |
9: 108,828,019 (GRCm39) |
N64Y |
probably damaging |
Het |
| Pidd1 |
A |
G |
7: 141,019,744 (GRCm39) |
F673L |
probably damaging |
Het |
| Pla2g7 |
A |
G |
17: 43,911,512 (GRCm39) |
|
probably null |
Het |
| Pml |
T |
C |
9: 58,156,867 (GRCm39) |
E36G |
probably benign |
Het |
| Proser1 |
C |
A |
3: 53,386,503 (GRCm39) |
S795* |
probably null |
Het |
| Ptprs |
T |
A |
17: 56,731,960 (GRCm39) |
K1016* |
probably null |
Het |
| Rbfox1 |
T |
A |
16: 7,042,375 (GRCm39) |
S76R |
probably benign |
Het |
| Reck |
A |
T |
4: 43,927,166 (GRCm39) |
I486F |
possibly damaging |
Het |
| Rnf103 |
A |
T |
6: 71,486,138 (GRCm39) |
K256N |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,446,905 (GRCm39) |
N713I |
|
Het |
| Slc38a4 |
C |
T |
15: 96,906,809 (GRCm39) |
G310S |
probably benign |
Het |
| Slc7a4 |
C |
T |
16: 17,393,145 (GRCm39) |
R218H |
probably benign |
Het |
| Slc7a7 |
T |
C |
14: 54,611,366 (GRCm39) |
H344R |
probably damaging |
Het |
| Smarcc1 |
G |
A |
9: 110,033,334 (GRCm39) |
E810K |
probably benign |
Het |
| Sord |
T |
A |
2: 122,093,706 (GRCm39) |
M275K |
probably benign |
Het |
| Spire2 |
C |
A |
8: 124,095,489 (GRCm39) |
P631T |
probably benign |
Het |
| Sult6b1 |
T |
C |
17: 79,198,279 (GRCm39) |
K207R |
probably benign |
Het |
| Syde2 |
T |
A |
3: 145,704,543 (GRCm39) |
D498E |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,110,958 (GRCm39) |
T1024M |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,018,410 (GRCm39) |
D1276E |
possibly damaging |
Het |
| Tm7sf2 |
A |
G |
19: 6,121,365 (GRCm39) |
F219S |
probably damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,288,199 (GRCm39) |
G496D |
probably benign |
Het |
| Tmtc4 |
G |
A |
14: 123,165,060 (GRCm39) |
H600Y |
probably benign |
Het |
| Vmn1r224 |
A |
T |
17: 20,640,309 (GRCm39) |
L295F |
probably benign |
Het |
| Vmn1r91 |
T |
C |
7: 19,835,135 (GRCm39) |
I18T |
possibly damaging |
Het |
| Vwa7 |
G |
A |
17: 35,236,763 (GRCm39) |
R110H |
probably damaging |
Het |
| Wbp2nl |
C |
T |
15: 82,190,332 (GRCm39) |
Q87* |
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 |
|
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 |
|
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'- TTGGTATTGGGACCCTCCAG -3'
(R):5'- TTTGGATCAGGGTTCAAGACAC -3'
Sequencing Primer
(F):5'- TATTGGGACCCTCCAGTGCATG -3'
(R):5'- GCTCGAGGTGAAAATGTAGTATTTCC -3'
|
| Posted On |
2020-06-10 |
Incidental Mutation