Incidental Mutation 'R8553:Epb41l5'
| ID |
659947 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
119472767-119576730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119477671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 700
(D700V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052404]
[ENSMUST00000163147]
|
| AlphaFold |
Q8BGS1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052404
AA Change: D692V
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383
AA Change: D692V
| 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 |
possibly damaging
Transcript: ENSMUST00000163147
AA Change: D700V
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383
AA Change: D700V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
G |
4: 123,754,327 (GRCm39) |
I80M |
probably benign |
Het |
| Acsbg3 |
T |
A |
17: 57,188,021 (GRCm39) |
D176E |
probably benign |
Het |
| Aga |
G |
A |
8: 53,973,367 (GRCm39) |
R255H |
probably damaging |
Het |
| Anapc1 |
G |
A |
2: 128,461,833 (GRCm39) |
P1757L |
possibly damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,479,278 (GRCm39) |
I1446L |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,468,981 (GRCm39) |
T779A |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,019,540 (GRCm39) |
S778P |
possibly damaging |
Het |
| Cep164 |
A |
T |
9: 45,718,508 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,304 (GRCm39) |
T1595A |
probably benign |
Het |
| Csmd3 |
G |
T |
15: 47,484,724 (GRCm39) |
T3214K |
possibly damaging |
Het |
| Dpy30 |
A |
G |
17: 74,622,913 (GRCm39) |
L23P |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,252,047 (GRCm39) |
E391G |
possibly damaging |
Het |
| Egflam |
A |
T |
15: 7,237,229 (GRCm39) |
V985E |
probably damaging |
Het |
| Elmo3 |
T |
C |
8: 106,033,810 (GRCm39) |
V201A |
probably benign |
Het |
| Entrep3 |
A |
C |
3: 89,094,153 (GRCm39) |
D322A |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,947,847 (GRCm39) |
S467P |
probably damaging |
Het |
| Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
| Fancm |
A |
C |
12: 65,173,469 (GRCm39) |
N1927T |
possibly damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,912,944 (GRCm39) |
T248A |
probably benign |
Het |
| Gm29106 |
T |
A |
1: 118,128,149 (GRCm39) |
C614S |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,773,328 (GRCm39) |
T249A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,491,661 (GRCm39) |
S3700P |
possibly damaging |
Het |
| Hr |
T |
C |
14: 70,804,965 (GRCm39) |
L950P |
probably damaging |
Het |
| Hsd3b3 |
T |
A |
3: 98,651,205 (GRCm39) |
T82S |
possibly damaging |
Het |
| Ifit2 |
C |
A |
19: 34,550,538 (GRCm39) |
A26E |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,244,739 (GRCm39) |
D902G |
probably damaging |
Het |
| Itga4 |
G |
A |
2: 79,131,405 (GRCm39) |
R591Q |
probably damaging |
Het |
| Kcnb1 |
A |
T |
2: 166,946,531 (GRCm39) |
S772R |
possibly damaging |
Het |
| Klhl32 |
T |
A |
4: 24,629,343 (GRCm39) |
I213L |
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,347 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
T |
A |
17: 71,538,232 (GRCm39) |
S293T |
probably damaging |
Het |
| Magi2 |
T |
C |
5: 20,856,198 (GRCm39) |
F840S |
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,439,344 (GRCm39) |
E289K |
possibly damaging |
Het |
| Ndst4 |
A |
G |
3: 125,503,756 (GRCm39) |
S8G |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,343,252 (GRCm39) |
D109G |
possibly damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,570,687 (GRCm39) |
A611V |
probably damaging |
Het |
| Pcif1 |
A |
T |
2: 164,728,417 (GRCm39) |
I225F |
probably damaging |
Het |
| Peli3 |
A |
G |
19: 4,984,960 (GRCm39) |
F150L |
probably damaging |
Het |
| Qng1 |
G |
A |
13: 58,532,694 (GRCm39) |
T92M |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,519,086 (GRCm39) |
T263A |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,072,539 (GRCm39) |
Y294C |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,416,508 (GRCm39) |
S605T |
probably benign |
Het |
| Sec23ip |
A |
C |
7: 128,355,777 (GRCm39) |
Q300P |
probably damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,635,925 (GRCm39) |
T98A |
probably damaging |
Het |
| Siah3 |
T |
A |
14: 75,763,067 (GRCm39) |
I106K |
probably benign |
Het |
| Spns2 |
C |
T |
11: 72,348,053 (GRCm39) |
D305N |
probably damaging |
Het |
| Sult1a1 |
G |
T |
7: 126,273,333 (GRCm39) |
Q177K |
probably benign |
Het |
| Tas2r109 |
A |
G |
6: 132,957,171 (GRCm39) |
I253T |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,964,643 (GRCm39) |
D661G |
possibly damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,831,584 (GRCm39) |
N325S |
probably damaging |
Het |
| Tfcp2l1 |
C |
A |
1: 118,560,082 (GRCm39) |
A58E |
probably damaging |
Het |
| Wdcp |
T |
C |
12: 4,902,024 (GRCm39) |
|
probably benign |
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 |
|
|
R0124:Epb41l5
|
UTSW |
1 |
119,561,370 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- CTTGGGAATGACCTCACCTC -3'
(R):5'- GGGACATCAGAGCCTCTTTC -3'
Sequencing Primer
(F):5'- GTCACTACGATTGCAGGCAC -3'
(R):5'- CCTGCTCCAGTCAGTGACAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation