Incidental Mutation 'R5179:Epb41l4b'
ID |
399371 |
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 |
042759-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5179 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
56991972-57143437 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57063181 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 503
(V503A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030142
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030142]
[ENSMUST00000095076]
|
AlphaFold |
Q9JMC8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030142
AA Change: V503A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000030142 Gene: ENSMUSG00000028434 AA Change: V503A
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 benign
Transcript: ENSMUST00000095076
|
SMART Domains |
Protein: ENSMUSP00000092687 Gene: ENSMUSG00000028434
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: ENSMUST00000150665
|
Meta Mutation Damage Score |
0.1947 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B9d2 |
C |
A |
7: 25,380,826 (GRCm39) |
H5Q |
probably damaging |
Het |
Bhlhe40 |
T |
C |
6: 108,642,169 (GRCm39) |
I371T |
possibly damaging |
Het |
Bmp8a |
C |
T |
4: 123,207,094 (GRCm39) |
R389H |
probably damaging |
Het |
Cc2d2a |
T |
A |
5: 43,845,563 (GRCm39) |
N326K |
possibly damaging |
Het |
Ccdc154 |
A |
G |
17: 25,390,137 (GRCm39) |
N545S |
probably benign |
Het |
Ccser2 |
A |
T |
14: 36,601,308 (GRCm39) |
S359T |
possibly damaging |
Het |
Cd22 |
T |
A |
7: 30,575,299 (GRCm39) |
T248S |
possibly damaging |
Het |
Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,363,759 (GRCm39) |
I4107T |
probably damaging |
Het |
Egf |
T |
A |
3: 129,479,936 (GRCm39) |
H488L |
probably damaging |
Het |
Exd2 |
G |
T |
12: 80,531,118 (GRCm39) |
W105L |
probably damaging |
Het |
Flrt2 |
A |
T |
12: 95,747,121 (GRCm39) |
R486S |
probably benign |
Het |
Gadl1 |
C |
A |
9: 115,789,448 (GRCm39) |
C251* |
probably null |
Het |
Ifit2 |
C |
A |
19: 34,550,976 (GRCm39) |
P172Q |
probably damaging |
Het |
Incenp |
G |
C |
19: 9,872,273 (GRCm39) |
Q62E |
unknown |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Lrg1 |
A |
G |
17: 56,427,795 (GRCm39) |
L59P |
possibly damaging |
Het |
Luc7l3 |
T |
C |
11: 94,190,879 (GRCm39) |
E145G |
possibly damaging |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
Nploc4 |
T |
C |
11: 120,299,682 (GRCm39) |
D346G |
probably benign |
Het |
Or4m1 |
G |
A |
14: 50,557,993 (GRCm39) |
Q100* |
probably null |
Het |
Or56b1b |
T |
C |
7: 108,164,433 (GRCm39) |
I190V |
probably benign |
Het |
Osbpl8 |
T |
G |
10: 111,108,025 (GRCm39) |
D298E |
probably benign |
Het |
Pcna-ps2 |
T |
C |
19: 9,260,891 (GRCm39) |
L50P |
probably damaging |
Het |
Ptgir |
C |
T |
7: 16,641,253 (GRCm39) |
P182S |
probably damaging |
Het |
Rictor |
A |
G |
15: 6,825,421 (GRCm39) |
Y1653C |
probably damaging |
Het |
Sgcd |
T |
A |
11: 46,871,711 (GRCm39) |
E208V |
probably benign |
Het |
Slc7a8 |
A |
T |
14: 54,962,289 (GRCm39) |
C448* |
probably null |
Het |
Sos2 |
G |
A |
12: 69,697,502 (GRCm39) |
R73* |
probably null |
Het |
Tecpr2 |
A |
G |
12: 110,911,127 (GRCm39) |
T1055A |
possibly damaging |
Het |
Usp47 |
T |
C |
7: 111,692,639 (GRCm39) |
Y1014H |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,445,411 (GRCm39) |
F682L |
probably benign |
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 |
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 |
R5784:Epb41l4b
|
UTSW |
4 |
57,086,003 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TTTACAGGGACACGAAAAGCAC -3'
(R):5'- ACCTACTACTACTTCTGTGTCAGGC -3'
Sequencing Primer
(F):5'- CGAAAAGCACTAATGACACTTGTAC -3'
(R):5'- TGTCAGGCACCCCACTC -3'
|
Posted On |
2016-07-06 |