Incidental Mutation 'R2352:Lypd8l'
ID |
246210 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lypd8l
|
Ensembl Gene |
ENSMUSG00000037145 |
Gene Name |
LY6/PLAUR domain containing 8 like |
Synonyms |
2210407C18Rik |
MMRRC Submission |
040334-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R2352 (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 58502934 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 72
(Q72*)
|
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: Q72*
|
SMART Domains |
Protein: ENSMUSP00000039283 Gene: ENSMUSG00000037145 AA Change: Q72*
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: Q72*
|
SMART Domains |
Protein: ENSMUSP00000104449 Gene: ENSMUSG00000037145 AA Change: Q72*
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd28 |
C |
T |
14: 31,432,904 (GRCm39) |
V548I |
probably benign |
Het |
Aspm |
T |
C |
1: 139,385,300 (GRCm39) |
S315P |
probably benign |
Het |
Caln1 |
G |
T |
5: 130,534,993 (GRCm39) |
E70* |
probably null |
Het |
Cd69 |
A |
T |
6: 129,246,567 (GRCm39) |
W114R |
probably damaging |
Het |
Cnbd2 |
T |
C |
2: 156,177,275 (GRCm39) |
Y90H |
probably damaging |
Het |
Crebrf |
C |
T |
17: 26,961,320 (GRCm39) |
S147F |
probably damaging |
Het |
Cts7 |
A |
T |
13: 61,500,586 (GRCm39) |
C320* |
probably null |
Het |
Dgat1 |
T |
C |
15: 76,386,513 (GRCm39) |
I474V |
possibly damaging |
Het |
Dmxl2 |
T |
A |
9: 54,301,146 (GRCm39) |
I2322F |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 117,892,065 (GRCm39) |
F3703I |
probably damaging |
Het |
Foxb2 |
A |
G |
19: 16,850,433 (GRCm39) |
L191P |
unknown |
Het |
Gli3 |
A |
T |
13: 15,836,977 (GRCm39) |
E453D |
probably benign |
Het |
Gnl3 |
C |
T |
14: 30,738,783 (GRCm39) |
|
probably null |
Het |
Golgb1 |
A |
T |
16: 36,718,921 (GRCm39) |
T276S |
probably damaging |
Het |
Grk4 |
T |
C |
5: 34,826,520 (GRCm39) |
M40T |
probably benign |
Het |
Hoxb1 |
A |
G |
11: 96,257,203 (GRCm39) |
N184S |
possibly damaging |
Het |
Insr |
G |
T |
8: 3,242,593 (GRCm39) |
T42N |
probably damaging |
Het |
Iqgap3 |
A |
G |
3: 88,011,815 (GRCm39) |
K836E |
possibly damaging |
Het |
Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
Leng9 |
T |
A |
7: 4,152,409 (GRCm39) |
E89V |
probably damaging |
Het |
Lhcgr |
C |
T |
17: 89,049,727 (GRCm39) |
V600I |
possibly damaging |
Het |
Lima1 |
T |
C |
15: 99,692,396 (GRCm39) |
N183S |
probably benign |
Het |
Lmtk2 |
A |
G |
5: 144,110,729 (GRCm39) |
D483G |
probably benign |
Het |
Lpcat2b |
T |
G |
5: 107,581,307 (GRCm39) |
L212R |
probably damaging |
Het |
Lrrc61 |
A |
T |
6: 48,545,806 (GRCm39) |
I210F |
probably benign |
Het |
Med12l |
C |
T |
3: 59,148,113 (GRCm39) |
L977F |
probably damaging |
Het |
Mical1 |
A |
T |
10: 41,358,229 (GRCm39) |
D414V |
probably benign |
Het |
Mmp14 |
C |
T |
14: 54,678,002 (GRCm39) |
A541V |
probably benign |
Het |
Mtmr10 |
A |
G |
7: 63,947,328 (GRCm39) |
D81G |
possibly damaging |
Het |
Myh1 |
G |
A |
11: 67,111,363 (GRCm39) |
V1601M |
probably benign |
Het |
Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,177,348 (GRCm39) |
Y1331C |
probably damaging |
Het |
Otop2 |
T |
C |
11: 115,219,927 (GRCm39) |
S256P |
probably damaging |
Het |
Prl8a1 |
A |
G |
13: 27,759,572 (GRCm39) |
L155P |
probably damaging |
Het |
Rrp1b |
A |
T |
17: 32,278,302 (GRCm39) |
M658L |
possibly damaging |
Het |
Sema4b |
C |
A |
7: 79,870,627 (GRCm39) |
A525D |
probably damaging |
Het |
Slc13a5 |
T |
A |
11: 72,143,147 (GRCm39) |
I369F |
probably benign |
Het |
Slc22a18 |
T |
C |
7: 143,051,152 (GRCm39) |
S344P |
probably benign |
Het |
Slc25a4 |
A |
C |
8: 46,662,212 (GRCm39) |
S149A |
probably benign |
Het |
Smc2 |
A |
T |
4: 52,460,266 (GRCm39) |
E547D |
probably benign |
Het |
Stx8 |
A |
G |
11: 67,864,077 (GRCm39) |
T46A |
probably benign |
Het |
Tacr3 |
T |
C |
3: 134,560,631 (GRCm39) |
V190A |
probably benign |
Het |
Tdrkh |
A |
T |
3: 94,336,467 (GRCm39) |
K468M |
possibly damaging |
Het |
Tmem145 |
T |
C |
7: 25,005,598 (GRCm39) |
S4P |
probably benign |
Het |
Tmem74 |
A |
G |
15: 43,730,506 (GRCm39) |
I179T |
probably damaging |
Het |
Vmn1r222 |
A |
C |
13: 23,416,683 (GRCm39) |
W177G |
probably benign |
Het |
Zfp426 |
T |
C |
9: 20,381,401 (GRCm39) |
I529V |
probably benign |
Het |
Zfp462 |
A |
G |
4: 55,008,313 (GRCm39) |
Y93C |
probably null |
Het |
Zfyve26 |
G |
A |
12: 79,330,890 (GRCm39) |
T443I |
probably damaging |
Het |
Zkscan16 |
A |
C |
4: 58,951,869 (GRCm39) |
R181S |
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 |
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 |
|
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'- CCCATGGAAGATAGAGGAACCC -3'
(R):5'- TAGCAAGTGGTCCATGCTC -3'
Sequencing Primer
(F):5'- GCACAGACCCTAGCTGTGTTTATG -3'
(R):5'- CAAGTGGTCCATGCTCTGTTG -3'
|
Posted On |
2014-10-30 |