Incidental Mutation 'R0992:Glipr1l1'
| ID |
97787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glipr1l1
|
| Ensembl Gene |
ENSMUSG00000020213 |
| Gene Name |
GLI pathogenesis-related 1 like 1 |
| Synonyms |
1700011E04Rik |
| MMRRC Submission |
039112-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R0992 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
111896094-111914415 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111898230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 112
(R112G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073617]
|
| AlphaFold |
Q9DAG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073617
AA Change: R112G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073302
Gene: ENSMUSG00000020213
AA Change: R112G
| Domain | Start | End | E-Value | Type |
|---|
|
SCP
|
40 |
186 |
6.52e-50 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,102,510 (GRCm39) |
T905A |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,728,086 (GRCm39) |
R100G |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,991,553 (GRCm39) |
R1400* |
probably null |
Het |
| Clstn2 |
A |
G |
9: 97,327,765 (GRCm39) |
S948P |
probably benign |
Het |
| Col15a1 |
G |
A |
4: 47,300,491 (GRCm39) |
V1029M |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Disc1 |
T |
C |
8: 125,814,781 (GRCm39) |
I215T |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Dst |
A |
G |
1: 34,238,617 (GRCm39) |
N3773S |
probably damaging |
Het |
| Gdap1 |
A |
G |
1: 17,217,329 (GRCm39) |
Y96C |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,795,238 (GRCm39) |
S13P |
probably benign |
Het |
| Noxred1 |
T |
C |
12: 87,271,000 (GRCm39) |
N207S |
probably benign |
Het |
| Pom121l2 |
A |
T |
13: 22,166,929 (GRCm39) |
Q400L |
probably benign |
Het |
| Sla2 |
T |
C |
2: 156,716,392 (GRCm39) |
E243G |
probably damaging |
Het |
| Srpk2 |
A |
G |
5: 23,750,541 (GRCm39) |
I54T |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Trim15 |
C |
T |
17: 37,175,903 (GRCm39) |
V215M |
probably damaging |
Het |
| Uchl3 |
T |
C |
14: 101,905,969 (GRCm39) |
I144T |
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 |
|
|
P0031:Glipr1l1
|
UTSW |
10 |
111,896,292 (GRCm39) |
missense |
probably benign |
|
|
R0987:Glipr1l1
|
UTSW |
10 |
111,914,340 (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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTAACCATGCCTGTCCCCTCTG -3'
(R):5'- TGTGTGAAGACCAAGGCACCTG -3'
Sequencing Primer
(F):5'- CCCTCTGAAATGGTGTTTCAAG -3'
(R):5'- GGCCACACATTTCAGAACAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation