Incidental Mutation 'T0970:Glis3'
ID |
67275 |
Institutional Source |
Beutler Lab
|
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 # |
T0970 (G3)
of strain
713
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
28236251-28657477 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 28508332 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 551
(R551W)
|
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: R551W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108231 Gene: ENSMUSG00000052942 AA Change: R551W
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: R551W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124635 Gene: ENSMUSG00000052942 AA Change: R551W
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.3%
- 20x: 94.7%
|
Validation Efficiency |
100% (25/25) |
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
A |
T |
10: 88,817,052 (GRCm39) |
L591* |
probably null |
Het |
Aqp4 |
A |
G |
18: 15,532,940 (GRCm39) |
L51P |
probably damaging |
Het |
Cemip |
A |
T |
7: 83,632,354 (GRCm39) |
C403S |
probably damaging |
Het |
Cfap74 |
G |
T |
4: 155,547,574 (GRCm39) |
|
probably null |
Het |
Gm11232 |
T |
A |
4: 71,674,740 (GRCm39) |
Y254F |
possibly damaging |
Het |
Map3k14 |
G |
T |
11: 103,115,124 (GRCm39) |
C837* |
probably null |
Het |
Mrc2 |
A |
C |
11: 105,238,453 (GRCm39) |
E1200A |
probably benign |
Het |
Nfix |
T |
C |
8: 85,453,112 (GRCm39) |
N314S |
possibly damaging |
Het |
Nphp4 |
T |
C |
4: 152,640,836 (GRCm39) |
S1068P |
probably damaging |
Het |
Nup98 |
A |
C |
7: 101,835,959 (GRCm39) |
|
probably benign |
Het |
Or13p8 |
A |
G |
4: 118,583,464 (GRCm39) |
R7G |
probably benign |
Het |
Pcdhac2 |
T |
C |
18: 37,278,388 (GRCm39) |
V456A |
possibly damaging |
Het |
Pcdhb1 |
G |
T |
18: 37,399,026 (GRCm39) |
G326C |
probably damaging |
Het |
Prss38 |
A |
G |
11: 59,263,974 (GRCm39) |
V246A |
possibly damaging |
Het |
Rnf26 |
C |
G |
9: 44,023,369 (GRCm39) |
R172P |
probably damaging |
Het |
Septin4 |
A |
T |
11: 87,458,558 (GRCm39) |
T311S |
probably damaging |
Het |
Serinc3 |
TATCATC |
TATC |
2: 163,469,835 (GRCm39) |
|
probably benign |
Het |
Spire1 |
C |
A |
18: 67,634,133 (GRCm39) |
|
probably null |
Het |
Tex2 |
T |
A |
11: 106,437,772 (GRCm39) |
I633F |
unknown |
Het |
Tle2 |
A |
G |
10: 81,416,119 (GRCm39) |
D108G |
possibly damaging |
Het |
Txnrd2 |
T |
C |
16: 18,260,523 (GRCm39) |
V185A |
probably damaging |
Het |
Unc45b |
C |
A |
11: 82,813,714 (GRCm39) |
H374N |
probably benign |
Het |
Wtap |
T |
C |
17: 13,188,277 (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 |
IGL02240:Glis3
|
APN |
19 |
28,508,925 (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 |
Z1176:Glis3
|
UTSW |
19 |
28,261,168 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCCTTGCACCAGTTAGAGGAAG -3'
(R):5'- AAGCACTGCTGCCGTTGGATAG -3'
Sequencing Primer
(F):5'- GTACCTTGACCATCACACATCC -3'
(R):5'- CTGCCGTTGGATAGACTGC -3'
|
Posted On |
2013-09-03 |