Incidental Mutation 'P0031:Glipr1l1'
| ID |
7711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glipr1l1
|
| Ensembl Gene |
ENSMUSG00000020213 |
| Gene Name |
GLI pathogenesis-related 1 like 1 |
| Synonyms |
1700011E04Rik |
| MMRRC Submission |
038283-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
P0031 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
111896094-111914415 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 111896292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 26
(F26L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073617]
|
| AlphaFold |
Q9DAG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073617
AA Change: F26L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073302
Gene: ENSMUSG00000020213
AA Change: F26L
| Domain | Start | End | E-Value | Type |
|---|
|
SCP
|
40 |
186 |
6.52e-50 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 80.2%
- 3x: 70.9%
- 10x: 42.6%
- 20x: 20.3%
|
| Validation Efficiency |
85% (81/95) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dcc |
A |
G |
18: 71,517,299 (GRCm39) |
|
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,566,049 (GRCm39) |
L410* |
probably null |
Het |
| Fcer1a |
T |
A |
1: 173,052,899 (GRCm39) |
K99M |
probably benign |
Het |
| Frmd4b |
A |
G |
6: 97,330,991 (GRCm39) |
F132S |
probably damaging |
Het |
| Letmd1 |
A |
G |
15: 100,370,490 (GRCm39) |
N62D |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,838,616 (GRCm39) |
E1844G |
probably damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,441,938 (GRCm39) |
Y416C |
probably damaging |
Het |
| Rcn1 |
T |
A |
2: 105,219,414 (GRCm39) |
K260* |
probably null |
Het |
| Tcerg1 |
A |
G |
18: 42,706,367 (GRCm39) |
I1015V |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,185,963 (GRCm39) |
Y1158F |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,662,618 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Glipr1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Glipr1l1
|
APN |
10 |
111,914,286 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01660:Glipr1l1
|
APN |
10 |
111,908,184 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01893:Glipr1l1
|
APN |
10 |
111,912,074 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02576:Glipr1l1
|
APN |
10 |
111,896,224 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03309:Glipr1l1
|
APN |
10 |
111,908,141 (GRCm39) |
splice site |
probably benign |
|
|
R0987:Glipr1l1
|
UTSW |
10 |
111,914,340 (GRCm39) |
missense |
probably benign |
|
|
R0992:Glipr1l1
|
UTSW |
10 |
111,898,230 (GRCm39) |
missense |
probably benign |
|
|
R2136:Glipr1l1
|
UTSW |
10 |
111,896,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2248:Glipr1l1
|
UTSW |
10 |
111,898,192 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4297:Glipr1l1
|
UTSW |
10 |
111,898,252 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4298:Glipr1l1
|
UTSW |
10 |
111,898,252 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4569:Glipr1l1
|
UTSW |
10 |
111,898,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5015:Glipr1l1
|
UTSW |
10 |
111,914,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5552:Glipr1l1
|
UTSW |
10 |
111,898,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5629:Glipr1l1
|
UTSW |
10 |
111,914,308 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6061:Glipr1l1
|
UTSW |
10 |
111,912,075 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6237:Glipr1l1
|
UTSW |
10 |
111,896,332 (GRCm39) |
nonsense |
probably null |
|
|
R6519:Glipr1l1
|
UTSW |
10 |
111,898,153 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6913:Glipr1l1
|
UTSW |
10 |
111,898,339 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7621:Glipr1l1
|
UTSW |
10 |
111,896,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8171:Glipr1l1
|
UTSW |
10 |
111,914,289 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9182:Glipr1l1
|
UTSW |
10 |
111,912,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9319:Glipr1l1
|
UTSW |
10 |
111,898,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9508:Glipr1l1
|
UTSW |
10 |
111,912,015 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0023:Glipr1l1
|
UTSW |
10 |
111,914,344 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Glipr1l1
|
UTSW |
10 |
111,914,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-10-29 |
Incidental Mutation