Incidental Mutation 'R2279:Epb41l3'
| ID |
243008 |
| 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 |
040278-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2279 (G1)
|
| Quality Score |
215 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
69382678-69596984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69577645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 542
(T542A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080208]
[ENSMUST00000112680]
[ENSMUST00000225977]
[ENSMUST00000225695]
[ENSMUST00000225740]
|
| AlphaFold |
Q9WV92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080208
AA Change: T542A
PolyPhen 2
Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000079098
Gene: ENSMUSG00000024044
AA Change: T542A
| 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: T542A
PolyPhen 2
Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108300
Gene: ENSMUSG00000024044
AA Change: T542A
| 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: T499A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223816
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224523
AA Change: T245A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224951
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225977
AA Change: T542A
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225695
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225316
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225740
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
G |
T |
5: 90,412,576 (GRCm39) |
N1249K |
probably damaging |
Het |
| Anks1b |
T |
C |
10: 89,885,958 (GRCm39) |
M218T |
probably damaging |
Het |
| Arfgef2 |
G |
C |
2: 166,707,679 (GRCm39) |
G1025A |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,868,037 (GRCm39) |
I829V |
possibly damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,035,512 (GRCm39) |
M277V |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,589,295 (GRCm39) |
I87M |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,864,484 (GRCm39) |
N149D |
probably damaging |
Het |
| Cdh20 |
C |
A |
1: 104,875,139 (GRCm39) |
A307E |
probably damaging |
Het |
| Cdk18 |
A |
T |
1: 132,043,690 (GRCm39) |
Y385N |
probably damaging |
Het |
| Cfap410 |
T |
C |
10: 77,817,476 (GRCm39) |
Y68H |
probably damaging |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Cptp |
A |
G |
4: 155,950,878 (GRCm39) |
I196T |
probably damaging |
Het |
| Cyp4b1 |
T |
A |
4: 115,497,557 (GRCm39) |
Y147F |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,471,333 (GRCm39) |
N36S |
possibly damaging |
Het |
| Dbr1 |
G |
T |
9: 99,462,200 (GRCm39) |
Q166H |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,133,765 (GRCm39) |
D580E |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,987,387 (GRCm39) |
K1308E |
possibly damaging |
Het |
| Dpep1 |
A |
T |
8: 123,920,883 (GRCm39) |
D21V |
probably benign |
Het |
| Dspp |
G |
A |
5: 104,326,250 (GRCm39) |
S871N |
unknown |
Het |
| En1 |
T |
A |
1: 120,534,916 (GRCm39) |
*402K |
probably null |
Het |
| Eogt |
G |
T |
6: 97,111,262 (GRCm39) |
R200S |
probably benign |
Het |
| Fam50b |
C |
T |
13: 34,930,823 (GRCm39) |
Q100* |
probably null |
Het |
| Gask1a |
T |
C |
9: 121,794,668 (GRCm39) |
I274T |
probably benign |
Het |
| Gh |
T |
C |
11: 106,191,613 (GRCm39) |
E143G |
probably damaging |
Het |
| Hcn3 |
C |
A |
3: 89,055,168 (GRCm39) |
R693L |
probably benign |
Het |
| Htra1 |
A |
T |
7: 130,563,752 (GRCm39) |
I208F |
probably damaging |
Het |
| Ifna13 |
T |
A |
4: 88,562,156 (GRCm39) |
E156V |
probably benign |
Het |
| Ints6 |
A |
G |
14: 62,942,131 (GRCm39) |
|
probably null |
Het |
| Kifc5b |
A |
G |
17: 27,144,515 (GRCm39) |
I545V |
probably damaging |
Het |
| Lrrc4c |
C |
T |
2: 97,460,850 (GRCm39) |
S492F |
possibly damaging |
Het |
| Madd |
A |
T |
2: 90,974,028 (GRCm39) |
C1419S |
possibly damaging |
Het |
| Map2k6 |
T |
C |
11: 110,390,290 (GRCm39) |
S275P |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,955,127 (GRCm39) |
E166G |
probably damaging |
Het |
| Mrpl48 |
G |
A |
7: 100,214,471 (GRCm39) |
T48I |
probably damaging |
Het |
| Neu1 |
A |
G |
17: 35,153,350 (GRCm39) |
D291G |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,560,603 (GRCm39) |
K116E |
possibly damaging |
Het |
| Npc1 |
T |
C |
18: 12,330,236 (GRCm39) |
|
probably null |
Het |
| Or6b9 |
A |
T |
7: 106,555,834 (GRCm39) |
M103K |
probably benign |
Het |
| Or6c1b |
A |
T |
10: 129,273,526 (GRCm39) |
M282L |
probably benign |
Het |
| Or8k1 |
T |
C |
2: 86,047,148 (GRCm39) |
E302G |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,764,287 (GRCm39) |
D4253E |
unknown |
Het |
| Phactr1 |
A |
T |
13: 43,231,265 (GRCm39) |
S244C |
possibly damaging |
Het |
| Prex1 |
A |
T |
2: 166,419,875 (GRCm39) |
I79N |
probably benign |
Het |
| Rhebl1 |
A |
T |
15: 98,776,167 (GRCm39) |
D162E |
probably benign |
Het |
| Rnf32 |
G |
T |
5: 29,430,278 (GRCm39) |
V366F |
probably benign |
Het |
| Rpn2 |
A |
G |
2: 157,152,208 (GRCm39) |
T394A |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,479,664 (GRCm39) |
M4386K |
possibly damaging |
Het |
| Sirt7 |
T |
C |
11: 120,515,321 (GRCm39) |
S112G |
probably damaging |
Het |
| Slc1a6 |
A |
T |
10: 78,624,882 (GRCm39) |
M96L |
probably benign |
Het |
| Slc25a29 |
T |
C |
12: 108,792,852 (GRCm39) |
E242G |
probably benign |
Het |
| Slc30a2 |
G |
T |
4: 134,075,857 (GRCm39) |
Q210H |
probably benign |
Het |
| Sorcs2 |
A |
T |
5: 36,199,430 (GRCm39) |
|
probably null |
Het |
| Spink5 |
A |
G |
18: 44,119,396 (GRCm39) |
N236D |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
| Sytl3 |
A |
G |
17: 6,976,273 (GRCm39) |
|
probably benign |
Het |
| Tasor |
A |
C |
14: 27,164,452 (GRCm39) |
K253Q |
probably damaging |
Het |
| Tgm7 |
A |
G |
2: 120,929,045 (GRCm39) |
S284P |
probably damaging |
Het |
| Tmem45a |
A |
T |
16: 56,643,882 (GRCm39) |
L89Q |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
| Txlna |
T |
C |
4: 129,525,935 (GRCm39) |
E304G |
probably damaging |
Het |
| Zfp709 |
T |
C |
8: 72,642,934 (GRCm39) |
V121A |
probably benign |
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 |
|
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 |
PCR Primer
(F):5'- TCTGCACTGTAAACGCAGGC -3'
(R):5'- CCCACTGGCTTAGATGAGAAC -3'
Sequencing Primer
(F):5'- CACTGTAAACGCAGGCAGGTC -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation