Incidental Mutation 'R2911:Lypd8l'
ID |
261259 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lypd8l
|
Ensembl Gene |
ENSMUSG00000037145 |
Gene Name |
LY6/PLAUR domain containing 8 like |
Synonyms |
2210407C18Rik |
MMRRC Submission |
040498-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R2911 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
58499030-58504318 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 58499252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 189
(Q189*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048801]
[ENSMUST00000108821]
|
AlphaFold |
Q6YI28 |
Predicted Effect |
probably null
Transcript: ENSMUST00000048801
AA Change: Q189*
|
SMART Domains |
Protein: ENSMUSP00000039283 Gene: ENSMUSG00000037145 AA Change: Q189*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
low complexity region
|
209 |
220 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000108821
AA Change: Q189*
|
SMART Domains |
Protein: ENSMUSP00000104449 Gene: ENSMUSG00000037145 AA Change: Q189*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
A |
G |
16: 20,378,982 (GRCm39) |
T645A |
probably damaging |
Het |
Adam10 |
C |
T |
9: 70,626,005 (GRCm39) |
S91L |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,989,018 (GRCm39) |
D3434G |
probably damaging |
Het |
Ankrd11 |
A |
T |
8: 123,635,537 (GRCm39) |
D32E |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,497,553 (GRCm39) |
|
probably null |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cep104 |
T |
A |
4: 154,079,884 (GRCm39) |
|
probably null |
Het |
Clstn2 |
A |
G |
9: 97,414,775 (GRCm39) |
V373A |
probably damaging |
Het |
Cyp2c65 |
T |
G |
19: 39,076,126 (GRCm39) |
I359M |
probably damaging |
Het |
Cyp4a12b |
A |
T |
4: 115,290,723 (GRCm39) |
K282* |
probably null |
Het |
Ddx1 |
C |
T |
12: 13,281,441 (GRCm39) |
|
probably null |
Het |
Dnah7a |
A |
T |
1: 53,466,983 (GRCm39) |
|
probably null |
Het |
Dzip1l |
T |
C |
9: 99,537,655 (GRCm39) |
V419A |
probably benign |
Het |
Epha3 |
A |
C |
16: 63,472,775 (GRCm39) |
V370G |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,652,878 (GRCm39) |
D523G |
probably benign |
Het |
Fryl |
T |
C |
5: 73,207,799 (GRCm39) |
D2457G |
probably damaging |
Het |
Gm379 |
A |
C |
X: 107,708,371 (GRCm39) |
F43V |
possibly damaging |
Het |
Grhl3 |
T |
C |
4: 135,286,457 (GRCm39) |
I75V |
probably benign |
Het |
Lcp2 |
G |
A |
11: 34,018,970 (GRCm39) |
|
probably null |
Het |
Lipo3 |
T |
A |
19: 33,556,767 (GRCm39) |
I220F |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,396,704 (GRCm39) |
E340G |
probably benign |
Het |
Mbtps1 |
A |
G |
8: 120,272,776 (GRCm39) |
I123T |
possibly damaging |
Het |
Ndc80 |
A |
T |
17: 71,807,371 (GRCm39) |
S528R |
probably benign |
Het |
Odf2l |
A |
C |
3: 144,830,084 (GRCm39) |
I19L |
probably benign |
Het |
Or10d3 |
T |
C |
9: 39,462,117 (GRCm39) |
I17V |
possibly damaging |
Het |
Or5h25 |
C |
T |
16: 58,930,544 (GRCm39) |
R143H |
probably benign |
Het |
Or7e177 |
A |
G |
9: 20,211,775 (GRCm39) |
K94R |
possibly damaging |
Het |
Pigr |
A |
G |
1: 130,777,270 (GRCm39) |
D692G |
probably damaging |
Het |
Reep2 |
T |
C |
18: 34,978,743 (GRCm39) |
|
probably null |
Het |
Rin3 |
T |
G |
12: 102,339,843 (GRCm39) |
S598A |
probably benign |
Het |
Rreb1 |
A |
T |
13: 38,132,896 (GRCm39) |
E1690D |
probably benign |
Het |
Rubcnl |
C |
T |
14: 75,278,248 (GRCm39) |
T344I |
probably benign |
Het |
Shcbp1l |
C |
A |
1: 153,304,372 (GRCm39) |
L144I |
probably damaging |
Het |
Snx2 |
C |
T |
18: 53,332,946 (GRCm39) |
P207S |
probably damaging |
Het |
Sox17 |
A |
T |
1: 4,563,354 (GRCm39) |
D92E |
probably damaging |
Het |
Spata21 |
A |
G |
4: 140,830,393 (GRCm39) |
M288V |
possibly damaging |
Het |
Sra1 |
T |
C |
18: 36,809,238 (GRCm39) |
D273G |
possibly damaging |
Het |
Syt7 |
T |
C |
19: 10,420,799 (GRCm39) |
I448T |
probably benign |
Het |
Tac1 |
A |
G |
6: 7,559,097 (GRCm39) |
|
probably null |
Het |
Tgs1 |
C |
A |
4: 3,585,616 (GRCm39) |
N164K |
probably benign |
Het |
Tmem72 |
T |
A |
6: 116,675,292 (GRCm39) |
I67F |
possibly damaging |
Het |
Ythdc1 |
T |
C |
5: 86,964,418 (GRCm39) |
S88P |
possibly 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 |
|
R2991:Lypd8l
|
UTSW |
11 |
58,501,516 (GRCm39) |
missense |
possibly damaging |
0.81 |
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'- TGGGACATGCAGAAATAGTCATCTC -3'
(R):5'- AGATCATTCTGGGCACATTTCTTTC -3'
Sequencing Primer
(F):5'- AATCACCAGTCTTTATTTGTTCCATG -3'
(R):5'- TCTTTCCCCAGAGAACATGGGTG -3'
|
Posted On |
2015-01-23 |