Incidental Mutation 'R9795:Ly6e'
| ID |
734902 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9795 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
74826900-74831752 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 74830390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 80
(C80F)
|
| 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 damaging
Transcript: ENSMUST00000051698
AA Change: C80F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056703
Gene: ENSMUSG00000022587
AA Change: C80F
| 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 damaging
Transcript: ENSMUST00000169343
AA Change: C80F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132081
Gene: ENSMUSG00000022587
AA Change: C80F
| 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 damaging
Transcript: ENSMUST00000185861
AA Change: C80F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141145
Gene: ENSMUSG00000022587
AA Change: C80F
| 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 damaging
Transcript: ENSMUST00000185863
AA Change: C96F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140060
Gene: ENSMUSG00000022587
AA Change: C96F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
42 |
N/A |
INTRINSIC |
|
LU
|
43 |
111 |
5.7e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187284
AA Change: C80F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140553
Gene: ENSMUSG00000022587
AA Change: C80F
| 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 damaging
Transcript: ENSMUST00000187606
AA Change: C80F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139471
Gene: ENSMUSG00000022587
AA Change: C80F
| 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 damaging
Transcript: ENSMUST00000188042
AA Change: C80F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141059
Gene: ENSMUSG00000022587
AA Change: C80F
| 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 damaging
Transcript: ENSMUST00000188866
AA Change: C80F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140145
Gene: ENSMUSG00000022587
AA Change: C80F
| 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 benign
Transcript: ENSMUST00000189186
|
| SMART Domains |
Protein: ENSMUSP00000139477
Gene: ENSMUSG00000022587
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:UPAR_LY6
|
29 |
64 |
3e-6 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190810
AA Change: C80F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139482
Gene: ENSMUSG00000022587
AA Change: C80F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LU
|
27 |
118 |
4.1e-30 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191127
AA Change: C80F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139966
Gene: ENSMUSG00000022587
AA Change: C80F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LU
|
27 |
118 |
4.1e-30 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191145
AA Change: C95F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140829
Gene: ENSMUSG00000022587
AA Change: C95F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
LU
|
42 |
117 |
2.4e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191436
AA Change: C80F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139549
Gene: ENSMUSG00000022587
AA Change: C80F
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
C |
T |
15: 94,301,180 (GRCm39) |
G115R |
possibly damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,837,421 (GRCm39) |
V701A |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,874,822 (GRCm39) |
D453G |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,175,434 (GRCm39) |
W495R |
probably damaging |
Het |
| Apc |
T |
A |
18: 34,447,628 (GRCm39) |
L1508Q |
probably damaging |
Het |
| Bbs12 |
C |
T |
3: 37,374,224 (GRCm39) |
T224I |
possibly damaging |
Het |
| Cald1 |
A |
T |
6: 34,723,071 (GRCm39) |
M52L |
|
Het |
| Calhm6 |
T |
C |
10: 34,002,544 (GRCm39) |
I180V |
probably damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,587,784 (GRCm39) |
S517G |
unknown |
Het |
| Cdk12 |
T |
A |
11: 98,102,051 (GRCm39) |
D636E |
unknown |
Het |
| Cfap53 |
A |
G |
18: 74,438,741 (GRCm39) |
D306G |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,608,357 (GRCm39) |
V1259A |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,409,192 (GRCm39) |
T477S |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,372,910 (GRCm39) |
E931G |
probably benign |
Het |
| Foxred1 |
CGGG |
CGG |
9: 35,122,152 (GRCm39) |
|
probably null |
Het |
| Gstt1 |
T |
C |
10: 75,634,391 (GRCm39) |
|
probably benign |
Het |
| Hao1 |
T |
A |
2: 134,372,552 (GRCm39) |
Y152F |
possibly damaging |
Het |
| Hcn4 |
C |
T |
9: 58,760,762 (GRCm39) |
Q436* |
probably null |
Het |
| Hmcn1 |
G |
A |
1: 150,608,689 (GRCm39) |
P1498S |
possibly damaging |
Het |
| Igkv4-79 |
A |
G |
6: 69,020,169 (GRCm39) |
S49P |
probably damaging |
Het |
| Krt73 |
C |
A |
15: 101,710,725 (GRCm39) |
R3L |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,893,313 (GRCm39) |
M338T |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,876,128 (GRCm39) |
I493N |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,121,304 (GRCm39) |
|
probably null |
Het |
| Mitf |
A |
G |
6: 97,970,143 (GRCm39) |
H137R |
probably benign |
Het |
| Nr1h4 |
T |
G |
10: 89,314,651 (GRCm39) |
T286P |
probably benign |
Het |
| Nsd2 |
A |
G |
5: 34,003,489 (GRCm39) |
D213G |
possibly damaging |
Het |
| Nuggc |
T |
C |
14: 65,847,345 (GRCm39) |
S131P |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,964,232 (GRCm39) |
E1272G |
probably damaging |
Het |
| Or2y1 |
A |
T |
11: 49,385,882 (GRCm39) |
N174I |
probably damaging |
Het |
| Or4a78 |
T |
C |
2: 89,497,811 (GRCm39) |
I140V |
probably benign |
Het |
| Or4f14c |
T |
C |
2: 111,941,330 (GRCm39) |
H89R |
probably benign |
Het |
| Or5ac17 |
T |
A |
16: 59,036,938 (GRCm39) |
I13F |
possibly damaging |
Het |
| Or5p79 |
A |
G |
7: 108,221,869 (GRCm39) |
I283M |
probably benign |
Het |
| Or7e170 |
T |
A |
9: 19,795,347 (GRCm39) |
M85L |
probably benign |
Het |
| Or7g32 |
T |
C |
9: 19,408,412 (GRCm39) |
Y123H |
probably damaging |
Het |
| Or8h9 |
T |
A |
2: 86,789,119 (GRCm39) |
I228F |
probably damaging |
Het |
| Pacsin3 |
C |
A |
2: 91,094,160 (GRCm39) |
A363D |
probably benign |
Het |
| Pcdh17 |
C |
T |
14: 84,770,350 (GRCm39) |
R943* |
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,406,983 (GRCm39) |
S2407P |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,671,822 (GRCm39) |
Y489* |
probably null |
Het |
| Qrich1 |
T |
A |
9: 108,411,089 (GRCm39) |
S205T |
probably benign |
Het |
| Rasgrp1 |
T |
C |
2: 117,118,429 (GRCm39) |
D520G |
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,852,551 (GRCm39) |
T1177K |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
C |
A |
5: 53,329,924 (GRCm39) |
R477L |
probably benign |
Het |
| Slc27a3 |
C |
T |
3: 90,296,875 (GRCm39) |
W32* |
probably null |
Het |
| Slc5a8 |
T |
C |
10: 88,757,591 (GRCm39) |
I527T |
possibly damaging |
Het |
| Slc6a7 |
C |
A |
18: 61,138,866 (GRCm39) |
R214L |
probably benign |
Het |
| Stx7 |
T |
C |
10: 24,057,475 (GRCm39) |
L167P |
probably damaging |
Het |
| Sult1d1 |
T |
A |
5: 87,712,655 (GRCm39) |
N63I |
probably damaging |
Het |
| Ttc23l |
T |
A |
15: 10,537,731 (GRCm39) |
I180F |
probably benign |
Het |
| Usp31 |
A |
G |
7: 121,247,499 (GRCm39) |
S1315P |
probably benign |
Het |
| Usp9y |
T |
C |
Y: 1,364,679 (GRCm39) |
M1045V |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,899,496 (GRCm39) |
T803A |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,167,561 (GRCm39) |
V605D |
probably damaging |
Het |
| Wdr26 |
A |
G |
1: 181,036,812 (GRCm39) |
F143S |
probably damaging |
Het |
| Zfp51 |
T |
G |
17: 21,682,051 (GRCm39) |
|
probably null |
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 |
|
R7892:Ly6e
|
UTSW |
15 |
74,829,700 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACGTTATCTGCCGCTGC -3'
(R):5'- AAGGAGCTGGGCTTTTCCTG -3'
Sequencing Primer
(F):5'- CGGGCTTTGGTGAGTAGC -3'
(R):5'- AGCTGGGCTTTTCCTGAGCTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation