Incidental Mutation 'R6548:Lyar'
| ID |
521349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lyar
|
| Ensembl Gene |
ENSMUSG00000067367 |
| Gene Name |
Ly1 antibody reactive clone |
| Synonyms |
|
| MMRRC Submission |
044673-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
R6548 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
38377815-38391650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38385202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 81
(I81V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087514]
[ENSMUST00000114106]
[ENSMUST00000123207]
[ENSMUST00000130721]
[ENSMUST00000132190]
[ENSMUST00000146401]
[ENSMUST00000155300]
[ENSMUST00000152066]
[ENSMUST00000202506]
[ENSMUST00000154975]
|
| AlphaFold |
Q08288 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087514
AA Change: I81V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000084791
Gene: ENSMUSG00000067367
AA Change: I81V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-LYAR
|
31 |
58 |
1.7e-18 |
PFAM |
|
low complexity region
|
138 |
152 |
N/A |
INTRINSIC |
|
coiled coil region
|
174 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114106
AA Change: I81V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000109741
Gene: ENSMUSG00000067367
AA Change: I81V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-LYAR
|
31 |
58 |
4.3e-18 |
PFAM |
|
low complexity region
|
138 |
152 |
N/A |
INTRINSIC |
|
coiled coil region
|
174 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123207
AA Change: I81V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000121204
Gene: ENSMUSG00000067367
AA Change: I81V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-LYAR
|
31 |
58 |
8e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130721
AA Change: I81V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000122153
Gene: ENSMUSG00000067367
AA Change: I81V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-LYAR
|
31 |
58 |
2.4e-17 |
PFAM |
|
low complexity region
|
138 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131492
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132190
AA Change: I81V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000121320
Gene: ENSMUSG00000067367
AA Change: I81V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-LYAR
|
31 |
58 |
2.4e-17 |
PFAM |
|
low complexity region
|
138 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146401
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155300
AA Change: I81V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122486
Gene: ENSMUSG00000067367
AA Change: I81V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-LYAR
|
31 |
58 |
1.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152066
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154975
|
| Meta Mutation Damage Score |
0.0597 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
93% (38/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
T |
C |
10: 43,050,769 (GRCm39) |
L21P |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,728,240 (GRCm39) |
A642V |
probably damaging |
Het |
| Bap1 |
A |
G |
14: 30,978,182 (GRCm39) |
N349S |
probably benign |
Het |
| Brca1 |
G |
T |
11: 101,415,591 (GRCm39) |
Q32K |
probably damaging |
Het |
| Ccdc39 |
A |
T |
3: 33,892,108 (GRCm39) |
N121K |
probably benign |
Het |
| Champ1 |
A |
T |
8: 13,930,002 (GRCm39) |
N720I |
probably damaging |
Het |
| Chd3 |
T |
A |
11: 69,252,886 (GRCm39) |
R216* |
probably null |
Het |
| D630003M21Rik |
A |
G |
2: 158,047,619 (GRCm39) |
|
probably null |
Het |
| Exoc2 |
A |
T |
13: 31,010,047 (GRCm39) |
V804E |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,791,343 (GRCm39) |
N868S |
probably benign |
Het |
| Gm10376 |
T |
C |
14: 42,873,025 (GRCm39) |
M1V |
probably null |
Het |
| Gpc2 |
G |
A |
5: 138,275,533 (GRCm39) |
|
probably null |
Het |
| Gpr37 |
G |
A |
6: 25,688,812 (GRCm39) |
T95I |
probably benign |
Het |
| Ints3 |
G |
A |
3: 90,299,431 (GRCm39) |
|
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,839 (GRCm39) |
E334G |
probably damaging |
Het |
| Lrrc75a |
T |
A |
11: 62,496,921 (GRCm39) |
T214S |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,871,998 (GRCm39) |
L342Q |
probably damaging |
Het |
| Mug2 |
C |
T |
6: 122,024,401 (GRCm39) |
A491V |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,077,438 (GRCm39) |
T858A |
probably benign |
Het |
| Net1 |
C |
T |
13: 3,936,074 (GRCm39) |
|
probably null |
Het |
| Or52s1 |
T |
A |
7: 102,861,111 (GRCm39) |
Y4N |
probably benign |
Het |
| Or5p76 |
T |
C |
7: 108,122,423 (GRCm39) |
T245A |
probably benign |
Het |
| Platr25 |
A |
T |
13: 62,821,623 (GRCm39) |
I110N |
possibly damaging |
Het |
| Plk5 |
T |
A |
10: 80,198,879 (GRCm39) |
L412H |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,812,790 (GRCm39) |
T605S |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,683,707 (GRCm39) |
D3119V |
probably damaging |
Het |
| Serpina1a |
G |
T |
12: 103,820,017 (GRCm39) |
H387N |
probably benign |
Het |
| Serpina1d |
G |
T |
12: 103,733,811 (GRCm39) |
N164K |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,836,307 (GRCm39) |
Y69H |
probably damaging |
Het |
| Sod2 |
A |
G |
17: 13,227,250 (GRCm39) |
K68R |
probably benign |
Het |
| Ssbp2 |
A |
G |
13: 91,687,470 (GRCm39) |
N51S |
possibly damaging |
Het |
| Tcl1b1 |
A |
G |
12: 105,130,663 (GRCm39) |
R49G |
probably benign |
Het |
| Tgfb1 |
A |
G |
7: 25,396,350 (GRCm39) |
I214M |
probably benign |
Het |
| Tln1 |
A |
G |
4: 43,547,525 (GRCm39) |
I812T |
probably damaging |
Het |
| Topaz1 |
T |
A |
9: 122,577,419 (GRCm39) |
C110S |
possibly damaging |
Het |
| Ubap2l |
A |
G |
3: 89,930,867 (GRCm39) |
F393L |
probably damaging |
Het |
| Vmn1r62 |
G |
A |
7: 5,678,769 (GRCm39) |
G150D |
probably damaging |
Het |
| Wdr24 |
C |
A |
17: 26,046,899 (GRCm39) |
Q651K |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,911,322 (GRCm39) |
T905A |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,285,109 (GRCm39) |
F2382S |
probably damaging |
Het |
|
| Other mutations in Lyar |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01374:Lyar
|
APN |
5 |
38,385,391 (GRCm39) |
splice site |
probably null |
|
|
IGL01472:Lyar
|
APN |
5 |
38,382,066 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02603:Lyar
|
APN |
5 |
38,391,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
veerie
|
UTSW |
5 |
38,385,202 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1980:Lyar
|
UTSW |
5 |
38,382,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2518:Lyar
|
UTSW |
5 |
38,385,276 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4612:Lyar
|
UTSW |
5 |
38,382,053 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4798:Lyar
|
UTSW |
5 |
38,385,230 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4799:Lyar
|
UTSW |
5 |
38,382,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Lyar
|
UTSW |
5 |
38,385,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5991:Lyar
|
UTSW |
5 |
38,385,209 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6045:Lyar
|
UTSW |
5 |
38,391,352 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6284:Lyar
|
UTSW |
5 |
38,383,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6551:Lyar
|
UTSW |
5 |
38,390,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7051:Lyar
|
UTSW |
5 |
38,382,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Lyar
|
UTSW |
5 |
38,388,161 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7909:Lyar
|
UTSW |
5 |
38,382,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7938:Lyar
|
UTSW |
5 |
38,388,295 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAATTCTCCTAATGTTCACGTCTG -3'
(R):5'- AAAGAGCCACTGTTCCTCTGC -3'
Sequencing Primer
(F):5'- CAAATACTGCCTGTACACGTGTG -3'
(R):5'- TTCCTCTGCAGGCCACAGATG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation