Incidental Mutation 'R0124:Epb41l5'
| ID |
53378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epb41l5
|
| Ensembl Gene |
ENSMUSG00000026383 |
| Gene Name |
erythrocyte membrane protein band 4.1 like 5 |
| Synonyms |
E230025E14Rik, 1700030C16Rik, NBL5, Epb4.1l5, Lulu1 |
| MMRRC Submission |
038409-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
1 |
| Chromosomal Location |
119472767-119576730 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 119561370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 64
(K64*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027632]
[ENSMUST00000052404]
[ENSMUST00000163147]
[ENSMUST00000187194]
[ENSMUST00000191046]
|
| AlphaFold |
Q8BGS1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027632
AA Change: K64*
|
| SMART Domains |
Protein: ENSMUSP00000027632
Gene: ENSMUSG00000026383
AA Change: K64*
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
39 |
235 |
8.64e-68 |
SMART |
|
FERM_C
|
239 |
331 |
1.07e-34 |
SMART |
|
FA
|
336 |
380 |
1.16e-12 |
SMART |
|
low complexity region
|
412 |
421 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000052404
AA Change: K64*
|
| SMART Domains |
Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383
AA Change: K64*
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
39 |
235 |
8.64e-68 |
SMART |
|
FERM_C
|
239 |
331 |
1.07e-34 |
SMART |
|
FA
|
336 |
380 |
1.16e-12 |
SMART |
|
low complexity region
|
412 |
421 |
N/A |
INTRINSIC |
|
coiled coil region
|
482 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163147
AA Change: K64*
|
| SMART Domains |
Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383
AA Change: K64*
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
39 |
235 |
8.64e-68 |
SMART |
|
FERM_C
|
239 |
331 |
1.07e-34 |
SMART |
|
FA
|
336 |
380 |
1.16e-12 |
SMART |
|
low complexity region
|
420 |
429 |
N/A |
INTRINSIC |
|
coiled coil region
|
490 |
520 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000187194
AA Change: K64*
|
| SMART Domains |
Protein: ENSMUSP00000139683
Gene: ENSMUSG00000026383
AA Change: K64*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FERM_N
|
47 |
114 |
1.7e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189042
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000191046
AA Change: K64*
|
| SMART Domains |
Protein: ENSMUSP00000140227
Gene: ENSMUSG00000026383
AA Change: K64*
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
39 |
235 |
8.64e-68 |
SMART |
|
FERM_C
|
239 |
331 |
1.07e-34 |
SMART |
|
FA
|
336 |
380 |
1.16e-12 |
SMART |
|
low complexity region
|
412 |
421 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192036
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.7%
- 20x: 89.8%
|
| Validation Efficiency |
100% (67/67) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a number of different mutations exhibit prenatal lethality and mesodermal and epithelial-mesenchymal transition defects during gastrulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,138,656 (GRCm39) |
T194A |
probably benign |
Het |
| Afap1 |
C |
T |
5: 36,102,553 (GRCm39) |
P82S |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,449,698 (GRCm39) |
Y481H |
probably damaging |
Het |
| Arid1b |
C |
T |
17: 5,389,605 (GRCm39) |
T1717I |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,002,676 (GRCm39) |
K348R |
probably benign |
Het |
| Bcl3 |
C |
T |
7: 19,543,576 (GRCm39) |
V5M |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,118,725 (GRCm39) |
E2321G |
probably benign |
Het |
| Casq1 |
C |
T |
1: 172,037,992 (GRCm39) |
V380M |
probably damaging |
Het |
| Cd209e |
T |
A |
8: 3,901,274 (GRCm39) |
T127S |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,143,835 (GRCm39) |
Y2921* |
probably null |
Het |
| Cdh6 |
A |
G |
15: 13,034,410 (GRCm39) |
L750P |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,102,073 (GRCm39) |
|
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,255,183 (GRCm39) |
E170G |
probably damaging |
Het |
| Clec4f |
A |
G |
6: 83,629,335 (GRCm39) |
|
probably null |
Het |
| Col19a1 |
T |
C |
1: 24,565,539 (GRCm39) |
N264S |
unknown |
Het |
| Col2a1 |
T |
A |
15: 97,896,743 (GRCm39) |
I43F |
unknown |
Het |
| Col4a2 |
A |
G |
8: 11,458,871 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,454,112 (GRCm39) |
D3578V |
probably damaging |
Het |
| Cyp2c37 |
T |
C |
19: 39,982,546 (GRCm39) |
L128P |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,141,718 (GRCm39) |
S132P |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,042,084 (GRCm39) |
|
probably benign |
Het |
| Eml1 |
T |
C |
12: 108,472,867 (GRCm39) |
V225A |
probably benign |
Het |
| Eml1 |
A |
G |
12: 108,475,437 (GRCm39) |
Y256C |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,174,504 (GRCm39) |
F2070L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,520,583 (GRCm39) |
H259N |
probably benign |
Het |
| Gm10764 |
A |
T |
10: 87,126,610 (GRCm39) |
T6S |
unknown |
Het |
| Gm14412 |
A |
G |
2: 177,007,705 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,133,646 (GRCm39) |
|
probably benign |
Het |
| Hid1 |
T |
C |
11: 115,247,649 (GRCm39) |
T250A |
probably damaging |
Het |
| Hnf4g |
A |
G |
3: 3,708,142 (GRCm39) |
|
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,296,425 (GRCm39) |
Q309* |
probably null |
Het |
| Lrriq1 |
C |
T |
10: 103,006,281 (GRCm39) |
|
probably null |
Het |
| Map3k13 |
A |
G |
16: 21,722,506 (GRCm39) |
T223A |
possibly damaging |
Het |
| Matn2 |
C |
T |
15: 34,426,297 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,215,056 (GRCm39) |
E1253G |
probably damaging |
Het |
| Nomo1 |
G |
T |
7: 45,732,652 (GRCm39) |
|
probably benign |
Het |
| Or1ak2 |
A |
T |
2: 36,827,268 (GRCm39) |
I46F |
possibly damaging |
Het |
| Or4c116 |
A |
T |
2: 88,942,088 (GRCm39) |
I256K |
possibly damaging |
Het |
| Or8a1b |
A |
G |
9: 37,622,759 (GRCm39) |
V272A |
possibly damaging |
Het |
| Papolg |
C |
T |
11: 23,817,535 (GRCm39) |
A582T |
probably benign |
Het |
| Plekhm3 |
C |
T |
1: 64,960,910 (GRCm39) |
E449K |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,451,858 (GRCm39) |
M900R |
probably damaging |
Het |
| Ppp1cb |
T |
A |
5: 32,640,822 (GRCm39) |
|
probably benign |
Het |
| Pramel17 |
A |
G |
4: 101,692,570 (GRCm39) |
*477Q |
probably null |
Het |
| Pros1 |
A |
G |
16: 62,734,309 (GRCm39) |
T372A |
possibly damaging |
Het |
| Scara3 |
A |
T |
14: 66,168,670 (GRCm39) |
S316T |
probably benign |
Het |
| Stau2 |
C |
T |
1: 16,533,352 (GRCm39) |
A61T |
probably damaging |
Het |
| Stx3 |
T |
C |
19: 11,769,163 (GRCm39) |
E54G |
possibly damaging |
Het |
| Sun1 |
T |
C |
5: 139,232,434 (GRCm39) |
|
probably benign |
Het |
| Swt1 |
A |
T |
1: 151,267,280 (GRCm39) |
C634S |
probably damaging |
Het |
| Syt6 |
A |
G |
3: 103,494,842 (GRCm39) |
Y269C |
probably damaging |
Het |
| Tfap2a |
G |
A |
13: 40,870,887 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,481,640 (GRCm39) |
|
probably null |
Het |
| Ttc39d |
T |
C |
17: 80,524,375 (GRCm39) |
C345R |
probably damaging |
Het |
| Vmn1r27 |
T |
C |
6: 58,192,233 (GRCm39) |
Y257C |
probably damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,208,578 (GRCm39) |
T56S |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,576,674 (GRCm39) |
|
probably null |
Het |
| Wdr17 |
A |
G |
8: 55,088,526 (GRCm39) |
S1175P |
probably damaging |
Het |
| Wsb2 |
T |
C |
5: 117,501,823 (GRCm39) |
F63L |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,607,782 (GRCm39) |
Y1561H |
probably damaging |
Het |
|
| Other mutations in Epb41l5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01103:Epb41l5
|
APN |
1 |
119,495,577 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01983:Epb41l5
|
APN |
1 |
119,506,814 (GRCm39) |
splice site |
probably benign |
|
|
IGL02085:Epb41l5
|
APN |
1 |
119,500,586 (GRCm39) |
missense |
probably benign |
|
|
IGL02834:Epb41l5
|
APN |
1 |
119,551,685 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02975:Epb41l5
|
APN |
1 |
119,506,811 (GRCm39) |
splice site |
probably benign |
|
|
IGL03001:Epb41l5
|
APN |
1 |
119,545,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03331:Epb41l5
|
APN |
1 |
119,545,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Epb41l5
|
UTSW |
1 |
119,551,641 (GRCm39) |
splice site |
probably benign |
|
|
R0128:Epb41l5
|
UTSW |
1 |
119,477,632 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0130:Epb41l5
|
UTSW |
1 |
119,477,632 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0241:Epb41l5
|
UTSW |
1 |
119,495,509 (GRCm39) |
splice site |
probably null |
|
|
R0357:Epb41l5
|
UTSW |
1 |
119,536,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0624:Epb41l5
|
UTSW |
1 |
119,551,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0711:Epb41l5
|
UTSW |
1 |
119,551,641 (GRCm39) |
splice site |
probably benign |
|
|
R0848:Epb41l5
|
UTSW |
1 |
119,477,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1340:Epb41l5
|
UTSW |
1 |
119,476,861 (GRCm39) |
makesense |
probably null |
|
|
R1401:Epb41l5
|
UTSW |
1 |
119,506,634 (GRCm39) |
splice site |
probably benign |
|
|
R1416:Epb41l5
|
UTSW |
1 |
119,477,606 (GRCm39) |
splice site |
probably benign |
|
|
R1452:Epb41l5
|
UTSW |
1 |
119,476,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Epb41l5
|
UTSW |
1 |
119,477,752 (GRCm39) |
splice site |
probably benign |
|
|
R1889:Epb41l5
|
UTSW |
1 |
119,476,902 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1895:Epb41l5
|
UTSW |
1 |
119,476,902 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3082:Epb41l5
|
UTSW |
1 |
119,536,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3742:Epb41l5
|
UTSW |
1 |
119,532,973 (GRCm39) |
missense |
probably benign |
|
|
R4194:Epb41l5
|
UTSW |
1 |
119,535,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Epb41l5
|
UTSW |
1 |
119,523,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4983:Epb41l5
|
UTSW |
1 |
119,482,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6825:Epb41l5
|
UTSW |
1 |
119,547,931 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6943:Epb41l5
|
UTSW |
1 |
119,536,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Epb41l5
|
UTSW |
1 |
119,536,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7334:Epb41l5
|
UTSW |
1 |
119,551,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8553:Epb41l5
|
UTSW |
1 |
119,477,671 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8904:Epb41l5
|
UTSW |
1 |
119,547,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Epb41l5
|
UTSW |
1 |
119,570,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Epb41l5
|
UTSW |
1 |
119,570,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9258:Epb41l5
|
UTSW |
1 |
119,506,701 (GRCm39) |
missense |
probably benign |
|
|
R9351:Epb41l5
|
UTSW |
1 |
119,477,639 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9366:Epb41l5
|
UTSW |
1 |
119,548,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9370:Epb41l5
|
UTSW |
1 |
119,561,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9680:Epb41l5
|
UTSW |
1 |
119,535,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9779:Epb41l5
|
UTSW |
1 |
119,545,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Epb41l5
|
UTSW |
1 |
119,536,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCATGATCTGAAATTTGCCACTTCT -3'
(R):5'- TGCAACGAGCTAAATGAAGCAGTCATA -3'
Sequencing Primer
(F):5'- TGCAGTCATAATCGAACTTCCAAAAG -3'
(R):5'- TAGGGCAGTGACCCTACTGAAA -3'
|
| Posted On |
2013-06-26 |
Incidental Mutation