Incidental Mutation 'IGL02240:Glis3'
| ID |
286036 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glis3
|
| Ensembl Gene |
ENSMUSG00000052942 |
| Gene Name |
GLIS family zinc finger 3 |
| Synonyms |
E330013K21Rik, 4833409N03Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
IGL02240
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
28236251-28657477 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28508925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 353
(L353Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065113]
[ENSMUST00000112612]
[ENSMUST00000159178]
[ENSMUST00000160376]
[ENSMUST00000161328]
[ENSMUST00000162022]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065113
|
| SMART Domains |
Protein: ENSMUSP00000066953
Gene: ENSMUSG00000052942
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
53 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112612
AA Change: L353Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108231
Gene: ENSMUSG00000052942
AA Change: L353Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
476 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
500 |
525 |
1.07e0 |
SMART |
|
ZnF_C2H2
|
534 |
561 |
6.13e-1 |
SMART |
|
ZnF_C2H2
|
567 |
591 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
597 |
621 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
627 |
651 |
9.08e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159178
|
| SMART Domains |
Protein: ENSMUSP00000124823
Gene: ENSMUSG00000052942
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160376
|
| SMART Domains |
Protein: ENSMUSP00000124143
Gene: ENSMUSG00000052942
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
53 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161026
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161328
|
| SMART Domains |
Protein: ENSMUSP00000125721
Gene: ENSMUSG00000052942
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162022
AA Change: L353Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124635
Gene: ENSMUSG00000052942
AA Change: L353Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
476 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
500 |
525 |
1.07e0 |
SMART |
|
ZnF_C2H2
|
534 |
561 |
6.13e-1 |
SMART |
|
ZnF_C2H2
|
567 |
591 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
597 |
621 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
627 |
651 |
9.08e-4 |
SMART |
|
low complexity region
|
700 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
746 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein which contains multiple C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the transcriptional regulation of insulin. It is thought to enhance GLI-RE-dependent transcription by binding to the GLI-RE consensus sequence (GACCACCCAC). Mutations in a similar gene in human have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit postnatal lethality associated with neonatal diabetes and polycystic kidney disease. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cand2 |
A |
G |
6: 115,780,623 (GRCm39) |
E1169G |
probably damaging |
Het |
| Cdc34 |
A |
G |
10: 79,523,823 (GRCm39) |
D168G |
possibly damaging |
Het |
| Cwc27 |
A |
T |
13: 104,943,151 (GRCm39) |
F130L |
probably damaging |
Het |
| Dglucy |
T |
A |
12: 100,837,672 (GRCm39) |
M635K |
possibly damaging |
Het |
| Eral1 |
G |
A |
11: 77,968,687 (GRCm39) |
R149* |
probably null |
Het |
| Gad1-ps |
A |
G |
10: 99,280,820 (GRCm39) |
|
noncoding transcript |
Het |
| Gsta2 |
T |
A |
9: 78,238,441 (GRCm39) |
I213F |
probably benign |
Het |
| Ist1 |
A |
T |
8: 110,408,836 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,330,871 (GRCm39) |
V549A |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,365,390 (GRCm39) |
R261H |
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,579,311 (GRCm39) |
N512S |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,330,822 (GRCm39) |
S525T |
probably damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Or8b56 |
T |
A |
9: 38,739,602 (GRCm39) |
V205D |
probably benign |
Het |
| Pcdhb10 |
A |
T |
18: 37,545,455 (GRCm39) |
H177L |
possibly damaging |
Het |
| Plcb3 |
A |
T |
19: 6,935,448 (GRCm39) |
|
probably benign |
Het |
| Podxl |
A |
G |
6: 31,501,933 (GRCm39) |
L342P |
probably damaging |
Het |
| Psd4 |
T |
G |
2: 24,286,389 (GRCm39) |
S330A |
probably benign |
Het |
| Sucla2 |
A |
G |
14: 73,828,287 (GRCm39) |
D298G |
probably damaging |
Het |
| Tecr |
T |
C |
8: 84,300,045 (GRCm39) |
D107G |
probably damaging |
Het |
| Vamp4 |
T |
A |
1: 162,405,446 (GRCm39) |
N24K |
possibly damaging |
Het |
| Zfp91 |
A |
G |
19: 12,753,770 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Glis3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Glis3
|
APN |
19 |
28,517,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02347:Glis3
|
APN |
19 |
28,509,283 (GRCm39) |
missense |
probably benign |
|
|
IGL02904:Glis3
|
APN |
19 |
28,335,352 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
glee
|
UTSW |
19 |
28,240,077 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0071:Glis3
|
UTSW |
19 |
28,241,255 (GRCm39) |
splice site |
probably benign |
|
|
R0071:Glis3
|
UTSW |
19 |
28,241,255 (GRCm39) |
splice site |
probably benign |
|
|
R0106:Glis3
|
UTSW |
19 |
28,509,268 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0106:Glis3
|
UTSW |
19 |
28,509,268 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0399:Glis3
|
UTSW |
19 |
28,276,168 (GRCm39) |
splice site |
probably benign |
|
|
R1462:Glis3
|
UTSW |
19 |
28,239,918 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1901:Glis3
|
UTSW |
19 |
28,508,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1976:Glis3
|
UTSW |
19 |
28,240,077 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1982:Glis3
|
UTSW |
19 |
28,508,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Glis3
|
UTSW |
19 |
28,508,702 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3723:Glis3
|
UTSW |
19 |
28,239,991 (GRCm39) |
nonsense |
probably null |
|
|
R4496:Glis3
|
UTSW |
19 |
28,643,527 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4921:Glis3
|
UTSW |
19 |
28,643,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5088:Glis3
|
UTSW |
19 |
28,508,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5241:Glis3
|
UTSW |
19 |
28,327,423 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5557:Glis3
|
UTSW |
19 |
28,241,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6226:Glis3
|
UTSW |
19 |
28,294,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6309:Glis3
|
UTSW |
19 |
28,294,761 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6488:Glis3
|
UTSW |
19 |
28,276,253 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7069:Glis3
|
UTSW |
19 |
28,508,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Glis3
|
UTSW |
19 |
28,508,802 (GRCm39) |
missense |
probably benign |
|
|
R7313:Glis3
|
UTSW |
19 |
28,508,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7320:Glis3
|
UTSW |
19 |
28,508,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7767:Glis3
|
UTSW |
19 |
28,241,360 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7839:Glis3
|
UTSW |
19 |
28,294,773 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8133:Glis3
|
UTSW |
19 |
28,327,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8937:Glis3
|
UTSW |
19 |
28,643,266 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9184:Glis3
|
UTSW |
19 |
28,509,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9484:Glis3
|
UTSW |
19 |
28,508,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0970:Glis3
|
UTSW |
19 |
28,508,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Glis3
|
UTSW |
19 |
28,261,168 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2015-04-16 |
Incidental Mutation