Incidental Mutation 'R5784:Epb41l4b'
| ID |
447908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epb41l4b
|
| Ensembl Gene |
ENSMUSG00000028434 |
| Gene Name |
erythrocyte membrane protein band 4.1 like 4b |
| Synonyms |
Ehm2, 6430543G08Rik, Epb4.1l4b, Lulu2, D4Ertd346e |
| MMRRC Submission |
043381-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5784 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
56991972-57143437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 57086003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 191
(S191A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030142]
[ENSMUST00000095076]
|
| AlphaFold |
Q9JMC8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030142
AA Change: S191A
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030142
Gene: ENSMUSG00000028434
AA Change: S191A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
B41
|
81 |
277 |
4.09e-69 |
SMART |
|
FERM_C
|
281 |
373 |
1.76e-35 |
SMART |
|
FA
|
378 |
422 |
2.86e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095076
AA Change: S191A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092687
Gene: ENSMUSG00000028434
AA Change: S191A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
B41
|
81 |
277 |
4.09e-69 |
SMART |
|
FERM_C
|
281 |
373 |
1.76e-35 |
SMART |
|
FA
|
378 |
422 |
2.86e-12 |
SMART |
|
low complexity region
|
504 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
704 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136337
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149109
|
| Meta Mutation Damage Score |
0.1058 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,441 (GRCm39) |
R292G |
possibly damaging |
Het |
| 4932416K20Rik |
T |
A |
8: 105,524,261 (GRCm39) |
|
noncoding transcript |
Het |
| Aox3 |
A |
G |
1: 58,192,658 (GRCm39) |
D544G |
probably benign |
Het |
| Atg2a |
C |
A |
19: 6,311,535 (GRCm39) |
A1830D |
probably damaging |
Het |
| Casp1 |
T |
C |
9: 5,299,337 (GRCm39) |
I22T |
probably damaging |
Het |
| Ccdc141 |
A |
C |
2: 76,859,671 (GRCm39) |
L990W |
probably damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,180,577 (GRCm39) |
T125A |
probably damaging |
Het |
| Cnep1r1 |
T |
A |
8: 88,857,354 (GRCm39) |
|
probably benign |
Het |
| Dhx38 |
G |
T |
8: 110,286,245 (GRCm39) |
Y348* |
probably null |
Het |
| Dnah7c |
A |
T |
1: 46,563,228 (GRCm39) |
I593L |
possibly damaging |
Het |
| Dpep3 |
T |
C |
8: 106,705,375 (GRCm39) |
D125G |
probably benign |
Het |
| Eif1ad10 |
T |
A |
12: 88,216,525 (GRCm39) |
N116Y |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,016 (GRCm39) |
Y1033C |
possibly damaging |
Het |
| Fam193a |
T |
C |
5: 34,623,567 (GRCm39) |
L32P |
probably damaging |
Het |
| Grin2c |
T |
C |
11: 115,149,121 (GRCm39) |
E159G |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hdhd2 |
A |
T |
18: 77,054,841 (GRCm39) |
D205V |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,561,307 (GRCm39) |
N774K |
unknown |
Het |
| Idh3b |
A |
G |
2: 130,121,591 (GRCm39) |
V71A |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,352,964 (GRCm39) |
M818V |
probably benign |
Het |
| Ltbp2 |
A |
G |
12: 84,915,513 (GRCm39) |
V162A |
probably damaging |
Het |
| Ltk |
G |
A |
2: 119,584,840 (GRCm39) |
Q136* |
probably null |
Het |
| Mafb |
A |
T |
2: 160,208,461 (GRCm39) |
C46S |
probably damaging |
Het |
| Map1s |
T |
C |
8: 71,367,002 (GRCm39) |
S636P |
probably damaging |
Het |
| Map3k13 |
A |
G |
16: 21,717,391 (GRCm39) |
K209E |
possibly damaging |
Het |
| Mppe1 |
T |
C |
18: 67,361,098 (GRCm39) |
N220D |
probably benign |
Het |
| Mydgf |
T |
C |
17: 56,485,254 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,190,521 (GRCm39) |
K999E |
possibly damaging |
Het |
| Nemp1 |
T |
A |
10: 127,513,067 (GRCm39) |
V34D |
possibly damaging |
Het |
| Npr2 |
A |
G |
4: 43,632,801 (GRCm39) |
E206G |
probably benign |
Het |
| Or10x4 |
G |
A |
1: 174,218,965 (GRCm39) |
C110Y |
probably damaging |
Het |
| Or13g1 |
T |
C |
7: 85,955,743 (GRCm39) |
N193D |
probably damaging |
Het |
| Or9q2 |
A |
T |
19: 13,772,710 (GRCm39) |
H88Q |
probably benign |
Het |
| Papln |
A |
G |
12: 83,828,754 (GRCm39) |
N820S |
probably benign |
Het |
| Pcdh10 |
T |
G |
3: 45,335,075 (GRCm39) |
F463C |
probably damaging |
Het |
| Pde7a |
A |
G |
3: 19,319,009 (GRCm39) |
V12A |
probably benign |
Het |
| Radil |
G |
T |
5: 142,473,268 (GRCm39) |
H804Q |
possibly damaging |
Het |
| Rbfox1 |
A |
T |
16: 7,042,203 (GRCm39) |
D39V |
probably damaging |
Het |
| Rims2 |
T |
G |
15: 39,399,383 (GRCm39) |
|
probably null |
Het |
| Rnf121 |
A |
G |
7: 101,684,583 (GRCm39) |
F110S |
probably benign |
Het |
| Saxo2 |
C |
T |
7: 82,284,082 (GRCm39) |
V259I |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc2a3 |
A |
T |
6: 122,712,376 (GRCm39) |
|
probably null |
Het |
| Traf2 |
A |
T |
2: 25,429,049 (GRCm39) |
V6E |
probably benign |
Het |
| Trim43c |
A |
T |
9: 88,729,696 (GRCm39) |
N379I |
probably benign |
Het |
| Ubr4 |
C |
G |
4: 139,152,529 (GRCm39) |
C1973W |
probably damaging |
Het |
| Unc13a |
G |
T |
8: 72,108,310 (GRCm39) |
D514E |
possibly damaging |
Het |
| Wdr27 |
T |
A |
17: 15,146,495 (GRCm39) |
T167S |
probably damaging |
Het |
| Zfp174 |
A |
T |
16: 3,672,438 (GRCm39) |
E329V |
probably benign |
Het |
| Zfp422 |
A |
T |
6: 116,603,771 (GRCm39) |
I76N |
probably damaging |
Het |
|
| Other mutations in Epb41l4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02141:Epb41l4b
|
APN |
4 |
57,103,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02311:Epb41l4b
|
APN |
4 |
57,076,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Episode
|
UTSW |
4 |
57,142,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0456:Epb41l4b
|
UTSW |
4 |
57,142,843 (GRCm39) |
splice site |
probably null |
|
|
R0799:Epb41l4b
|
UTSW |
4 |
57,086,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0905:Epb41l4b
|
UTSW |
4 |
57,103,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Epb41l4b
|
UTSW |
4 |
57,077,252 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1208:Epb41l4b
|
UTSW |
4 |
57,077,252 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1506:Epb41l4b
|
UTSW |
4 |
57,088,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1618:Epb41l4b
|
UTSW |
4 |
57,032,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1919:Epb41l4b
|
UTSW |
4 |
57,040,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1956:Epb41l4b
|
UTSW |
4 |
57,038,553 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2041:Epb41l4b
|
UTSW |
4 |
57,084,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2048:Epb41l4b
|
UTSW |
4 |
57,142,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3434:Epb41l4b
|
UTSW |
4 |
57,040,865 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4059:Epb41l4b
|
UTSW |
4 |
57,024,337 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4175:Epb41l4b
|
UTSW |
4 |
57,076,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4694:Epb41l4b
|
UTSW |
4 |
57,019,875 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4817:Epb41l4b
|
UTSW |
4 |
57,103,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5076:Epb41l4b
|
UTSW |
4 |
57,040,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5179:Epb41l4b
|
UTSW |
4 |
57,063,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5246:Epb41l4b
|
UTSW |
4 |
57,040,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5530:Epb41l4b
|
UTSW |
4 |
57,086,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Epb41l4b
|
UTSW |
4 |
57,064,802 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6772:Epb41l4b
|
UTSW |
4 |
57,063,140 (GRCm39) |
missense |
probably benign |
|
|
R6965:Epb41l4b
|
UTSW |
4 |
57,040,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7045:Epb41l4b
|
UTSW |
4 |
57,103,522 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7316:Epb41l4b
|
UTSW |
4 |
57,019,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7750:Epb41l4b
|
UTSW |
4 |
57,076,913 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7954:Epb41l4b
|
UTSW |
4 |
57,088,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Epb41l4b
|
UTSW |
4 |
57,041,064 (GRCm39) |
splice site |
probably null |
|
|
R9085:Epb41l4b
|
UTSW |
4 |
57,041,064 (GRCm39) |
splice site |
probably null |
|
|
R9130:Epb41l4b
|
UTSW |
4 |
57,103,447 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9386:Epb41l4b
|
UTSW |
4 |
57,076,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Epb41l4b
|
UTSW |
4 |
57,063,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACTTAAGGTCCTCAATGCCC -3'
(R):5'- TGCATTGGACTTCCTTTGACAG -3'
Sequencing Primer
(F):5'- TTCCAAGACATGTAGGAATCGCTG -3'
(R):5'- CCTTTGACAGTTCAGAAATCCAGGG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation