Incidental Mutation 'R5552:Gli1'
| ID |
435186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gli1
|
| Ensembl Gene |
ENSMUSG00000025407 |
| Gene Name |
GLI-Kruppel family member GLI1 |
| Synonyms |
Zfp-5, Zfp5 |
| MMRRC Submission |
043109-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5552 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127165751-127177448 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 127166131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 1041
(A1041S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026474]
[ENSMUST00000069548]
[ENSMUST00000219026]
[ENSMUST00000219511]
|
| AlphaFold |
P47806 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026474
AA Change: A1041S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407
AA Change: A1041S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
222 |
237 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
238 |
263 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
271 |
298 |
5.72e-1 |
SMART |
|
ZnF_C2H2
|
304 |
328 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
334 |
359 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
365 |
390 |
2.61e-4 |
SMART |
|
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
639 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
748 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
873 |
N/A |
INTRINSIC |
|
low complexity region
|
941 |
962 |
N/A |
INTRINSIC |
|
low complexity region
|
985 |
1002 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069548
|
| SMART Domains |
Protein: ENSMUSP00000066455
Gene: ENSMUSG00000040345
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
60 |
175 |
8.19e-10 |
SMART |
|
RhoGAP
|
276 |
469 |
1.94e-55 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218656
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219026
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219640
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219808
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygotes for a targeted null mutation are apparently normal, but homozygotes that are also heterozygous for a Gli2 knockout die soon after birth with multiple defects, while Gli2 knockout heterozygotes are normally viable. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
G |
6: 88,813,530 (GRCm39) |
Y403H |
probably benign |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Arhgap19 |
T |
C |
19: 41,772,819 (GRCm39) |
I291M |
probably benign |
Het |
| Blzf1 |
A |
T |
1: 164,130,058 (GRCm39) |
I91N |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,773,520 (GRCm39) |
T270A |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,470,272 (GRCm39) |
M1906K |
possibly damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,483,846 (GRCm39) |
D799G |
probably benign |
Het |
| Csnk1g3 |
T |
C |
18: 54,065,355 (GRCm39) |
F313L |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,521,855 (GRCm39) |
V53A |
possibly damaging |
Het |
| Dcst1 |
T |
C |
3: 89,272,373 (GRCm39) |
D30G |
probably benign |
Het |
| Dlgap2 |
G |
T |
8: 14,881,342 (GRCm39) |
G805* |
probably null |
Het |
| Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
T |
C |
4: 136,659,210 (GRCm39) |
N843S |
probably damaging |
Het |
| Evi5 |
A |
T |
5: 107,966,855 (GRCm39) |
V222E |
probably damaging |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,243 (GRCm39) |
Q116L |
probably benign |
Het |
| H3c4 |
A |
G |
13: 23,760,295 (GRCm39) |
D107G |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,480,914 (GRCm39) |
L2985Q |
possibly damaging |
Het |
| Hk2 |
G |
T |
6: 82,707,804 (GRCm39) |
R694S |
possibly damaging |
Het |
| Htt |
A |
G |
5: 34,979,118 (GRCm39) |
M834V |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,195,578 (GRCm39) |
Y1600H |
probably benign |
Het |
| Med1 |
A |
T |
11: 98,057,157 (GRCm39) |
Y340* |
probably null |
Het |
| Mov10l1 |
T |
A |
15: 88,938,569 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,284,768 (GRCm39) |
F586L |
probably benign |
Het |
| Mrrf |
T |
A |
2: 36,037,973 (GRCm39) |
D81E |
possibly damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,616 (GRCm39) |
F234S |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,285,360 (GRCm39) |
V267A |
possibly damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,665 (GRCm39) |
I228N |
probably damaging |
Het |
| Or6c69c |
T |
C |
10: 129,911,014 (GRCm39) |
V245A |
probably damaging |
Het |
| Pde4a |
T |
C |
9: 21,112,682 (GRCm39) |
V343A |
probably damaging |
Het |
| Pmfbp1 |
T |
A |
8: 110,258,383 (GRCm39) |
L649Q |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,914,872 (GRCm39) |
I2511V |
possibly damaging |
Het |
| Pramel51 |
T |
A |
12: 88,145,135 (GRCm39) |
T64S |
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,106,967 (GRCm39) |
R361* |
probably null |
Het |
| Serpina3g |
T |
C |
12: 104,206,595 (GRCm39) |
V132A |
probably damaging |
Het |
| Thada |
A |
C |
17: 84,736,558 (GRCm39) |
S908A |
probably benign |
Het |
| Zfp280b |
C |
T |
10: 75,875,497 (GRCm39) |
Q459* |
probably null |
Het |
|
| Other mutations in Gli1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01543:Gli1
|
APN |
10 |
127,168,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01824:Gli1
|
APN |
10 |
127,172,396 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02134:Gli1
|
APN |
10 |
127,172,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02508:Gli1
|
APN |
10 |
127,172,961 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02931:Gli1
|
APN |
10 |
127,168,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0099:Gli1
|
UTSW |
10 |
127,171,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:Gli1
|
UTSW |
10 |
127,167,432 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0792:Gli1
|
UTSW |
10 |
127,168,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1169:Gli1
|
UTSW |
10 |
127,174,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1519:Gli1
|
UTSW |
10 |
127,170,138 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1522:Gli1
|
UTSW |
10 |
127,168,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1550:Gli1
|
UTSW |
10 |
127,174,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1592:Gli1
|
UTSW |
10 |
127,167,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1879:Gli1
|
UTSW |
10 |
127,169,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Gli1
|
UTSW |
10 |
127,165,975 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1934:Gli1
|
UTSW |
10 |
127,167,108 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2049:Gli1
|
UTSW |
10 |
127,172,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2088:Gli1
|
UTSW |
10 |
127,167,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2141:Gli1
|
UTSW |
10 |
127,172,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Gli1
|
UTSW |
10 |
127,173,934 (GRCm39) |
splice site |
probably benign |
|
|
R3873:Gli1
|
UTSW |
10 |
127,167,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Gli1
|
UTSW |
10 |
127,166,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3899:Gli1
|
UTSW |
10 |
127,172,535 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4703:Gli1
|
UTSW |
10 |
127,166,724 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5686:Gli1
|
UTSW |
10 |
127,173,305 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5812:Gli1
|
UTSW |
10 |
127,173,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Gli1
|
UTSW |
10 |
127,170,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Gli1
|
UTSW |
10 |
127,171,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7162:Gli1
|
UTSW |
10 |
127,168,306 (GRCm39) |
missense |
probably benign |
|
|
R8229:Gli1
|
UTSW |
10 |
127,168,317 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8322:Gli1
|
UTSW |
10 |
127,167,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8447:Gli1
|
UTSW |
10 |
127,166,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8678:Gli1
|
UTSW |
10 |
127,173,260 (GRCm39) |
missense |
probably null |
0.65 |
|
R9123:Gli1
|
UTSW |
10 |
127,167,202 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9377:Gli1
|
UTSW |
10 |
127,173,359 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
Z1177:Gli1
|
UTSW |
10 |
127,172,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Gli1
|
UTSW |
10 |
127,171,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gli1
|
UTSW |
10 |
127,170,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTTTTAGGCACTAGAGTTGAG -3'
(R):5'- TGGGAGTAAACAGGCCTTCC -3'
Sequencing Primer
(F):5'- AATTGTGTCTCTCCAGGCAGAGAC -3'
(R):5'- GTAAACAGGCCTTCCCACAGG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation