Incidental Mutation 'R5530:Epb41l4b'
| ID |
433624 |
| 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 |
043088-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5530 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
56991972-57143437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57086003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 191
(S191P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030142]
[ENSMUST00000095076]
|
| AlphaFold |
Q9JMC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030142
AA Change: S191P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030142
Gene: ENSMUSG00000028434
AA Change: S191P
| 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: S191P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092687
Gene: ENSMUSG00000028434
AA Change: S191P
| 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 |
0.1952 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.3%
- 20x: 91.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
A |
G |
1: 75,154,556 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
A |
G |
2: 25,174,595 (GRCm39) |
K653E |
possibly damaging |
Het |
| Aplp1 |
T |
C |
7: 30,136,254 (GRCm39) |
S508G |
possibly damaging |
Het |
| Bend3 |
T |
A |
10: 43,387,722 (GRCm39) |
V705D |
probably damaging |
Het |
| Btaf1 |
C |
A |
19: 36,968,175 (GRCm39) |
A1120E |
possibly damaging |
Het |
| Carmil3 |
T |
C |
14: 55,731,081 (GRCm39) |
V116A |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,802,459 (GRCm39) |
Y238* |
probably null |
Het |
| Cep170 |
T |
C |
1: 176,597,076 (GRCm39) |
H427R |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,313,334 (GRCm39) |
R3079W |
probably damaging |
Het |
| Edc4 |
G |
T |
8: 106,615,886 (GRCm39) |
E694* |
probably null |
Het |
| Entrep1 |
T |
A |
19: 23,952,958 (GRCm39) |
T451S |
probably benign |
Het |
| Fbxo46 |
T |
C |
7: 18,870,727 (GRCm39) |
Y449H |
probably damaging |
Het |
| Ficd |
C |
A |
5: 113,876,986 (GRCm39) |
P387Q |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,721 (GRCm39) |
T942A |
probably benign |
Het |
| Hoxb1 |
G |
C |
11: 96,257,754 (GRCm39) |
R228P |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,085,541 (GRCm39) |
F2444L |
probably damaging |
Het |
| Kcnj2 |
T |
C |
11: 110,962,917 (GRCm39) |
F103S |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,845,836 (GRCm39) |
I402V |
probably benign |
Het |
| Mtcl2 |
T |
A |
2: 156,862,262 (GRCm39) |
S1556C |
probably damaging |
Het |
| Mvp |
A |
G |
7: 126,595,095 (GRCm39) |
V250A |
probably benign |
Het |
| Myo1b |
T |
A |
1: 51,836,582 (GRCm39) |
N293I |
probably damaging |
Het |
| Npy5r |
T |
A |
8: 67,133,512 (GRCm39) |
Y427F |
probably benign |
Het |
| Nrdc |
C |
T |
4: 108,904,806 (GRCm39) |
T747M |
probably damaging |
Het |
| Nrxn2 |
C |
T |
19: 6,548,397 (GRCm39) |
P30L |
possibly damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,656,857 (GRCm39) |
F332S |
probably damaging |
Het |
| Optc |
T |
G |
1: 133,832,828 (GRCm39) |
T91P |
probably benign |
Het |
| Or14j10 |
A |
G |
17: 37,934,698 (GRCm39) |
I276T |
possibly damaging |
Het |
| Or8b12c |
A |
G |
9: 37,716,103 (GRCm39) |
T299A |
probably benign |
Het |
| Otud7b |
A |
T |
3: 96,048,799 (GRCm39) |
E92V |
probably damaging |
Het |
| Pgap4 |
A |
G |
4: 49,586,226 (GRCm39) |
L314P |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,100,036 (GRCm39) |
I677T |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,778,893 (GRCm39) |
E67G |
probably damaging |
Het |
| Ppil6 |
T |
C |
10: 41,383,494 (GRCm39) |
S257P |
probably damaging |
Het |
| Ppp1r14a |
T |
C |
7: 28,988,791 (GRCm39) |
L11P |
probably benign |
Het |
| Ppp1r14bl |
A |
T |
1: 23,141,071 (GRCm39) |
I81N |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,232 (GRCm39) |
M445K |
probably benign |
Het |
| Rad21l |
A |
T |
2: 151,499,430 (GRCm39) |
I257K |
probably benign |
Het |
| Rbm11 |
A |
G |
16: 75,389,861 (GRCm39) |
D9G |
possibly damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,491,488 (GRCm39) |
Y586C |
probably damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,980,275 (GRCm39) |
I276F |
probably damaging |
Het |
| Sec14l4 |
A |
G |
11: 3,996,342 (GRCm39) |
*404W |
probably null |
Het |
| Sec16a |
A |
G |
2: 26,329,264 (GRCm39) |
V917A |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,887,461 (GRCm39) |
Y131* |
probably null |
Het |
| Sspo |
A |
T |
6: 48,442,517 (GRCm39) |
Y2004F |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,783,026 (GRCm39) |
E674G |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,135,048 (GRCm39) |
S989P |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,031,393 (GRCm39) |
D1005G |
probably damaging |
Het |
| Wdr19 |
T |
C |
5: 65,385,562 (GRCm39) |
S555P |
probably benign |
Het |
| Zdhhc24 |
T |
A |
19: 4,933,591 (GRCm39) |
|
probably null |
Het |
| Zfp558 |
A |
G |
9: 18,367,669 (GRCm39) |
M373T |
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 |
|
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 |
|
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'- TCCAAGACATGTAGGAATCGC -3'
(R):5'- TGAGACCAGGGATGCCTTTC -3'
Sequencing Primer
(F):5'- CATGTAGGAATCGCTGTAAAATGG -3'
(R):5'- TTTCCACAGGCTCAGGAGGAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation