Incidental Mutation 'R2991:Lypd8l'
ID |
257910 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lypd8l
|
Ensembl Gene |
ENSMUSG00000037145 |
Gene Name |
LY6/PLAUR domain containing 8 like |
Synonyms |
2210407C18Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R2991 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
58499030-58504318 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 58501516 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 156
(V156I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048801]
[ENSMUST00000108821]
|
AlphaFold |
Q6YI28 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048801
AA Change: V156I
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000039283 Gene: ENSMUSG00000037145 AA Change: V156I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
low complexity region
|
209 |
220 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108821
AA Change: V156I
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104449 Gene: ENSMUSG00000037145 AA Change: V156I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
low complexity region
|
209 |
220 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126695
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
T |
A |
9: 30,832,690 (GRCm39) |
T282S |
probably benign |
Het |
Asic2 |
C |
A |
11: 81,858,863 (GRCm39) |
V50L |
probably benign |
Het |
Cdadc1 |
T |
C |
14: 59,823,521 (GRCm39) |
M324V |
possibly damaging |
Het |
Cdcp3 |
A |
T |
7: 130,848,429 (GRCm39) |
D861V |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,607,547 (GRCm39) |
V427D |
probably damaging |
Het |
Col3a1 |
C |
A |
1: 45,374,939 (GRCm39) |
|
probably benign |
Het |
Esp24 |
A |
T |
17: 39,350,894 (GRCm39) |
E31D |
possibly damaging |
Het |
Igkv14-100 |
T |
A |
6: 68,496,335 (GRCm39) |
L76* |
probably null |
Het |
Itsn2 |
T |
C |
12: 4,708,474 (GRCm39) |
V843A |
probably benign |
Het |
Llgl2 |
T |
C |
11: 115,741,946 (GRCm39) |
S663P |
probably benign |
Het |
Lsg1 |
T |
C |
16: 30,380,547 (GRCm39) |
N630S |
probably damaging |
Het |
Msh4 |
A |
G |
3: 153,611,497 (GRCm39) |
V42A |
probably benign |
Het |
Nkx6-1 |
T |
C |
5: 101,807,401 (GRCm39) |
Y327C |
probably damaging |
Het |
Or9i1b |
G |
A |
19: 13,896,675 (GRCm39) |
C97Y |
probably damaging |
Het |
Pde4a |
T |
C |
9: 21,114,539 (GRCm39) |
S369P |
probably damaging |
Het |
Pkdrej |
T |
C |
15: 85,704,137 (GRCm39) |
I600V |
probably benign |
Het |
Plekhg6 |
T |
C |
6: 125,347,432 (GRCm39) |
E479G |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Rgmb |
A |
T |
17: 16,041,352 (GRCm39) |
D78E |
probably damaging |
Het |
Samd12 |
C |
T |
15: 53,723,592 (GRCm39) |
E34K |
probably damaging |
Het |
Slc22a21 |
T |
G |
11: 53,850,195 (GRCm39) |
E220A |
probably damaging |
Het |
Smc6 |
A |
G |
12: 11,339,982 (GRCm39) |
E430G |
probably damaging |
Het |
Snx15 |
C |
A |
19: 6,171,515 (GRCm39) |
L186F |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,568,525 (GRCm39) |
E1557G |
probably benign |
Het |
Vwa8 |
A |
T |
14: 79,232,589 (GRCm39) |
T644S |
probably benign |
Het |
Zcchc4 |
T |
A |
5: 52,961,780 (GRCm39) |
F247Y |
probably damaging |
Het |
Zmynd11 |
A |
G |
13: 9,745,858 (GRCm39) |
V165A |
probably damaging |
Het |
|
Other mutations in Lypd8l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00763:Lypd8l
|
APN |
11 |
58,503,707 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02341:Lypd8l
|
APN |
11 |
58,503,656 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02609:Lypd8l
|
APN |
11 |
58,503,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R0466:Lypd8l
|
UTSW |
11 |
58,503,331 (GRCm39) |
splice site |
probably benign |
|
R0598:Lypd8l
|
UTSW |
11 |
58,499,230 (GRCm39) |
missense |
probably benign |
0.27 |
R0612:Lypd8l
|
UTSW |
11 |
58,502,799 (GRCm39) |
splice site |
probably null |
|
R2352:Lypd8l
|
UTSW |
11 |
58,503,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R2352:Lypd8l
|
UTSW |
11 |
58,502,934 (GRCm39) |
nonsense |
probably null |
|
R2439:Lypd8l
|
UTSW |
11 |
58,501,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R2910:Lypd8l
|
UTSW |
11 |
58,499,252 (GRCm39) |
nonsense |
probably null |
|
R2911:Lypd8l
|
UTSW |
11 |
58,499,252 (GRCm39) |
nonsense |
probably null |
|
R3609:Lypd8l
|
UTSW |
11 |
58,503,384 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4863:Lypd8l
|
UTSW |
11 |
58,503,338 (GRCm39) |
critical splice donor site |
probably null |
|
R4925:Lypd8l
|
UTSW |
11 |
58,501,513 (GRCm39) |
missense |
probably damaging |
0.96 |
R6954:Lypd8l
|
UTSW |
11 |
58,499,314 (GRCm39) |
missense |
probably benign |
0.01 |
R7725:Lypd8l
|
UTSW |
11 |
58,499,325 (GRCm39) |
missense |
probably benign |
0.21 |
R9148:Lypd8l
|
UTSW |
11 |
58,499,338 (GRCm39) |
missense |
probably benign |
0.08 |
Z1186:Lypd8l
|
UTSW |
11 |
58,503,397 (GRCm39) |
missense |
probably benign |
0.00 |
Z1186:Lypd8l
|
UTSW |
11 |
58,503,387 (GRCm39) |
missense |
probably benign |
0.14 |
Z1186:Lypd8l
|
UTSW |
11 |
58,499,335 (GRCm39) |
missense |
probably benign |
0.00 |
Z1187:Lypd8l
|
UTSW |
11 |
58,503,397 (GRCm39) |
missense |
probably benign |
0.00 |
Z1187:Lypd8l
|
UTSW |
11 |
58,503,387 (GRCm39) |
missense |
probably benign |
0.14 |
Z1187:Lypd8l
|
UTSW |
11 |
58,499,335 (GRCm39) |
missense |
probably benign |
0.00 |
Z1188:Lypd8l
|
UTSW |
11 |
58,503,397 (GRCm39) |
missense |
probably benign |
0.00 |
Z1188:Lypd8l
|
UTSW |
11 |
58,503,387 (GRCm39) |
missense |
probably benign |
0.14 |
Z1188:Lypd8l
|
UTSW |
11 |
58,499,335 (GRCm39) |
missense |
probably benign |
0.00 |
Z1189:Lypd8l
|
UTSW |
11 |
58,503,397 (GRCm39) |
missense |
probably benign |
0.00 |
Z1189:Lypd8l
|
UTSW |
11 |
58,503,387 (GRCm39) |
missense |
probably benign |
0.14 |
Z1189:Lypd8l
|
UTSW |
11 |
58,499,335 (GRCm39) |
missense |
probably benign |
0.00 |
Z1190:Lypd8l
|
UTSW |
11 |
58,503,397 (GRCm39) |
missense |
probably benign |
0.00 |
Z1190:Lypd8l
|
UTSW |
11 |
58,503,387 (GRCm39) |
missense |
probably benign |
0.14 |
Z1190:Lypd8l
|
UTSW |
11 |
58,499,335 (GRCm39) |
missense |
probably benign |
0.00 |
Z1191:Lypd8l
|
UTSW |
11 |
58,503,397 (GRCm39) |
missense |
probably benign |
0.00 |
Z1191:Lypd8l
|
UTSW |
11 |
58,503,387 (GRCm39) |
missense |
probably benign |
0.14 |
Z1191:Lypd8l
|
UTSW |
11 |
58,499,335 (GRCm39) |
missense |
probably benign |
0.00 |
Z1192:Lypd8l
|
UTSW |
11 |
58,503,397 (GRCm39) |
missense |
probably benign |
0.00 |
Z1192:Lypd8l
|
UTSW |
11 |
58,503,387 (GRCm39) |
missense |
probably benign |
0.14 |
Z1192:Lypd8l
|
UTSW |
11 |
58,499,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCCTGAGCATCTGAAGGAC -3'
(R):5'- AGCTCATCCTCACTGCAACG -3'
Sequencing Primer
(F):5'- GCCAGTGACATGCTCAGATTCTAG -3'
(R):5'- CACTGCAACGCTTTTTGGTAGAATC -3'
|
Posted On |
2015-01-11 |