Incidental Mutation 'R0987:Glipr1l1'
| ID |
97296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glipr1l1
|
| Ensembl Gene |
ENSMUSG00000020213 |
| Gene Name |
GLI pathogenesis-related 1 like 1 |
| Synonyms |
1700011E04Rik |
| MMRRC Submission |
039107-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R0987 (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 111914340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 234
(S234G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020434]
[ENSMUST00000073617]
[ENSMUST00000148897]
|
| AlphaFold |
Q9DAG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020434
|
| SMART Domains |
Protein: ENSMUSP00000020434
Gene: ENSMUSG00000020214
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
34 |
N/A |
INTRINSIC |
|
SCP
|
49 |
199 |
7.3e-30 |
SMART |
|
transmembrane domain
|
251 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073617
AA Change: S234G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073302
Gene: ENSMUSG00000020213
AA Change: S234G
| Domain | Start | End | E-Value | Type |
|---|
|
SCP
|
40 |
186 |
6.52e-50 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148897
|
| SMART Domains |
Protein: ENSMUSP00000122771
Gene: ENSMUSG00000020214
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
34 |
N/A |
INTRINSIC |
|
SCP
|
49 |
199 |
7.3e-30 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 87.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
A |
4: 144,246,502 (GRCm39) |
V16D |
possibly damaging |
Het |
| Cacng6 |
C |
T |
7: 3,479,020 (GRCm39) |
T133I |
probably damaging |
Het |
| Car6 |
A |
G |
4: 150,281,800 (GRCm39) |
I71T |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,288,060 (GRCm39) |
S178T |
probably damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fcgbp |
G |
T |
7: 27,793,599 (GRCm39) |
C1167F |
probably damaging |
Het |
| Igsf9b |
T |
C |
9: 27,243,849 (GRCm39) |
|
probably null |
Het |
| Kif26b |
T |
C |
1: 178,649,185 (GRCm39) |
L435P |
probably damaging |
Het |
| Kirrel2 |
T |
C |
7: 30,147,555 (GRCm39) |
T698A |
probably damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,557,156 (GRCm39) |
V1407A |
probably benign |
Het |
| Mau2 |
T |
C |
8: 70,480,348 (GRCm39) |
D275G |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,041,993 (GRCm39) |
|
probably null |
Het |
| Nr0b2 |
G |
A |
4: 133,283,503 (GRCm39) |
V247I |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,527 (GRCm39) |
I193L |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,779,891 (GRCm39) |
R229C |
probably benign |
Het |
| Or8k28 |
A |
T |
2: 86,285,891 (GRCm39) |
C241* |
probably null |
Het |
| Pigf |
A |
G |
17: 87,304,973 (GRCm39) |
L190P |
probably damaging |
Het |
| Rasef |
A |
T |
4: 73,652,721 (GRCm39) |
C593* |
probably null |
Het |
| Tex15 |
T |
G |
8: 34,066,875 (GRCm39) |
W2102G |
probably damaging |
Het |
| Tmbim1 |
T |
C |
1: 74,333,083 (GRCm39) |
|
probably null |
Het |
| Tmem183a |
A |
T |
1: 134,280,109 (GRCm39) |
F257Y |
probably damaging |
Het |
| Zbtb11 |
A |
G |
16: 55,811,071 (GRCm39) |
T410A |
probably benign |
Het |
| Zzef1 |
TGCGTGGGAACCCGC |
TGC |
11: 72,792,159 (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 |
|
|
P0031:Glipr1l1
|
UTSW |
10 |
111,896,292 (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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTGGGCTTCTGAACATTGCCTTT -3'
(R):5'- CCAAAACACCAGATCAATgcagatgac -3'
Sequencing Primer
(F):5'- GGCTTCTGAACATTGCCTTTTATTG -3'
(R):5'- aaatagtctgaaaatgaggtggtg -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation