Incidental Mutation 'R7892:Ly6e'
| ID |
609405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ly6e
|
| Ensembl Gene |
ENSMUSG00000022587 |
| Gene Name |
lymphocyte antigen 6 family member E |
| Synonyms |
TSA-1, RIG-E, 9804, Tsa1, Sca-2, Ly67 |
| MMRRC Submission |
045944-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7892 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
74826900-74831752 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 74829700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 15
(L15*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051698]
[ENSMUST00000169343]
[ENSMUST00000185861]
[ENSMUST00000185863]
[ENSMUST00000187284]
[ENSMUST00000187606]
[ENSMUST00000188042]
[ENSMUST00000188866]
[ENSMUST00000189186]
[ENSMUST00000190810]
[ENSMUST00000191127]
[ENSMUST00000191145]
[ENSMUST00000191436]
|
| AlphaFold |
Q64253 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000051698
AA Change: L15*
|
| SMART Domains |
Protein: ENSMUSP00000056703
Gene: ENSMUSG00000022587
AA Change: L15*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LU
|
27 |
118 |
8.6e-28 |
SMART |
|
low complexity region
|
119 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169343
AA Change: L15*
|
| SMART Domains |
Protein: ENSMUSP00000132081
Gene: ENSMUSG00000022587
AA Change: L15*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LU
|
27 |
118 |
8.6e-28 |
SMART |
|
low complexity region
|
119 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000185861
AA Change: L15*
|
| SMART Domains |
Protein: ENSMUSP00000141145
Gene: ENSMUSG00000022587
AA Change: L15*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LU
|
27 |
118 |
8.6e-28 |
SMART |
|
low complexity region
|
119 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000185863
AA Change: L31*
|
| SMART Domains |
Protein: ENSMUSP00000140060
Gene: ENSMUSG00000022587
AA Change: L31*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
42 |
N/A |
INTRINSIC |
|
LU
|
43 |
111 |
5.7e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000187284
AA Change: L15*
|
| SMART Domains |
Protein: ENSMUSP00000140553
Gene: ENSMUSG00000022587
AA Change: L15*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LU
|
27 |
118 |
8.6e-28 |
SMART |
|
low complexity region
|
119 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000187606
AA Change: L15*
|
| SMART Domains |
Protein: ENSMUSP00000139471
Gene: ENSMUSG00000022587
AA Change: L15*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LU
|
27 |
118 |
8.6e-28 |
SMART |
|
low complexity region
|
119 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188042
AA Change: L15*
|
| SMART Domains |
Protein: ENSMUSP00000141059
Gene: ENSMUSG00000022587
AA Change: L15*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LU
|
27 |
118 |
8.6e-28 |
SMART |
|
low complexity region
|
119 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000188866
AA Change: L15*
|
| SMART Domains |
Protein: ENSMUSP00000140145
Gene: ENSMUSG00000022587
AA Change: L15*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LU
|
27 |
118 |
8.6e-28 |
SMART |
|
low complexity region
|
119 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189186
AA Change: L15*
|
| SMART Domains |
Protein: ENSMUSP00000139477
Gene: ENSMUSG00000022587
AA Change: L15*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:UPAR_LY6
|
29 |
64 |
3e-6 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190810
AA Change: L15*
|
| SMART Domains |
Protein: ENSMUSP00000139482
Gene: ENSMUSG00000022587
AA Change: L15*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LU
|
27 |
118 |
4.1e-30 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000191127
AA Change: L15*
|
| SMART Domains |
Protein: ENSMUSP00000139966
Gene: ENSMUSG00000022587
AA Change: L15*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LU
|
27 |
118 |
4.1e-30 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000191145
AA Change: L30*
|
| SMART Domains |
Protein: ENSMUSP00000140829
Gene: ENSMUSG00000022587
AA Change: L30*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
LU
|
42 |
117 |
2.4e-15 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000191436
AA Change: L15*
|
| SMART Domains |
Protein: ENSMUSP00000139549
Gene: ENSMUSG00000022587
AA Change: L15*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LU
|
27 |
118 |
8.6e-28 |
SMART |
|
low complexity region
|
119 |
135 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos as a result of heart defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
A |
G |
16: 14,436,349 (GRCm39) |
E134G |
|
Het |
| Acsm4 |
G |
A |
7: 119,293,889 (GRCm39) |
V87M |
possibly damaging |
Het |
| Adamts3 |
T |
C |
5: 90,009,288 (GRCm39) |
N125S |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,760,885 (GRCm39) |
E47G |
unknown |
Het |
| C1ra |
A |
G |
6: 124,496,374 (GRCm39) |
M367V |
probably benign |
Het |
| Ces2b |
T |
C |
8: 105,559,385 (GRCm39) |
W84R |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,436,579 (GRCm39) |
T835A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,232,865 (GRCm39) |
E741G |
probably damaging |
Het |
| Cspg4b |
C |
T |
13: 113,456,140 (GRCm39) |
R729C |
|
Het |
| D330020A13Rik |
T |
C |
6: 120,271,819 (GRCm39) |
L165P |
unknown |
Het |
| Dtnbp1 |
A |
T |
13: 45,075,765 (GRCm39) |
L326* |
probably null |
Het |
| Ecpas |
T |
C |
4: 58,828,593 (GRCm39) |
I947V |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,003,588 (GRCm39) |
|
probably null |
Het |
| Fbxl9 |
A |
T |
8: 106,042,165 (GRCm39) |
I221N |
possibly damaging |
Het |
| Fuom |
T |
A |
7: 139,679,492 (GRCm39) |
I143F |
unknown |
Het |
| Gm14444 |
A |
T |
2: 174,858,524 (GRCm39) |
M33L |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,540,643 (GRCm39) |
T2889A |
probably benign |
Het |
| Kif5b |
G |
A |
18: 6,212,517 (GRCm39) |
T769M |
probably benign |
Het |
| Kif9 |
G |
A |
9: 110,343,682 (GRCm39) |
R567H |
not run |
Het |
| Kmt2c |
A |
T |
5: 25,504,814 (GRCm39) |
M3498K |
probably benign |
Het |
| Malt1 |
G |
A |
18: 65,597,187 (GRCm39) |
|
probably null |
Het |
| Msantd5 |
G |
A |
11: 51,125,613 (GRCm39) |
E179K |
possibly damaging |
Het |
| Mylk |
G |
C |
16: 34,699,894 (GRCm39) |
S419T |
probably benign |
Het |
| Oacyl |
T |
C |
18: 65,870,918 (GRCm39) |
L373P |
probably benign |
Het |
| Or10d1 |
A |
C |
9: 39,483,845 (GRCm39) |
S237A |
possibly damaging |
Het |
| Or4b1d |
T |
C |
2: 89,968,836 (GRCm39) |
I216V |
probably benign |
Het |
| Or5b116 |
T |
A |
19: 13,422,662 (GRCm39) |
C95* |
probably null |
Het |
| Or5b21 |
C |
T |
19: 12,839,843 (GRCm39) |
R235* |
probably null |
Het |
| Pcdh20 |
A |
T |
14: 88,704,867 (GRCm39) |
L811* |
probably null |
Het |
| Pgrmc2 |
A |
T |
3: 41,037,415 (GRCm39) |
D5E |
probably damaging |
Het |
| Pign |
A |
C |
1: 105,585,401 (GRCm39) |
F49L |
probably benign |
Het |
| Pip5k1b |
T |
C |
19: 24,337,457 (GRCm39) |
D277G |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,075,895 (GRCm39) |
V11A |
probably benign |
Het |
| Prl7a1 |
A |
T |
13: 27,817,661 (GRCm39) |
V201E |
not run |
Het |
| Samhd1 |
A |
G |
2: 156,958,415 (GRCm39) |
S269P |
probably damaging |
Het |
| Sik2 |
A |
G |
9: 50,920,132 (GRCm39) |
V15A |
probably damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,853,024 (GRCm39) |
D42G |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,403,810 (GRCm39) |
N2664Y |
probably damaging |
Het |
| Tcstv1b |
G |
T |
13: 120,634,695 (GRCm39) |
|
probably benign |
Het |
| Treh |
A |
G |
9: 44,596,015 (GRCm39) |
Y435C |
probably damaging |
Het |
| Trim59 |
A |
G |
3: 68,945,140 (GRCm39) |
S67P |
probably benign |
Het |
| Trim68 |
A |
T |
7: 102,328,004 (GRCm39) |
C309S |
unknown |
Het |
| Tubb4a |
G |
T |
17: 57,387,880 (GRCm39) |
S382* |
probably null |
Het |
| Vmn2r15 |
A |
T |
5: 109,434,217 (GRCm39) |
I829N |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,883,722 (GRCm39) |
T128A |
probably benign |
Het |
| Vmn2r70 |
T |
A |
7: 85,208,588 (GRCm39) |
I630L |
possibly damaging |
Het |
| Zc3hav1 |
A |
G |
6: 38,306,156 (GRCm39) |
I632T |
probably benign |
Het |
| Zfp558 |
A |
G |
9: 18,379,993 (GRCm39) |
S13P |
possibly damaging |
Het |
|
| Other mutations in Ly6e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01736:Ly6e
|
APN |
15 |
74,830,546 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0926:Ly6e
|
UTSW |
15 |
74,830,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2083:Ly6e
|
UTSW |
15 |
74,830,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2374:Ly6e
|
UTSW |
15 |
74,830,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4328:Ly6e
|
UTSW |
15 |
74,830,370 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4512:Ly6e
|
UTSW |
15 |
74,829,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Ly6e
|
UTSW |
15 |
74,830,510 (GRCm39) |
splice site |
probably null |
|
|
R7509:Ly6e
|
UTSW |
15 |
74,830,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7706:Ly6e
|
UTSW |
15 |
74,830,183 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8431:Ly6e
|
UTSW |
15 |
74,830,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9087:Ly6e
|
UTSW |
15 |
74,829,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9401:Ly6e
|
UTSW |
15 |
74,830,153 (GRCm39) |
nonsense |
probably null |
|
|
R9795:Ly6e
|
UTSW |
15 |
74,830,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGCCTGAATGCTGAAAC -3'
(R):5'- ACTAGGTCAGTTGGCTAGAGAG -3'
Sequencing Primer
(F):5'- GGCCTGAATGCTGAAACCATCTAC -3'
(R):5'- TCAGTTGGCTAGAGAGTAGGAGGTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation