Incidental Mutation 'R8133:Glis3'
| ID |
632140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glis3
|
| Ensembl Gene |
ENSMUSG00000052942 |
| Gene Name |
GLIS family zinc finger 3 |
| Synonyms |
E330013K21Rik, 4833409N03Rik |
| MMRRC Submission |
067561-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R8133 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
28236251-28657477 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28327406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 669
(S669P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065113]
[ENSMUST00000112612]
[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 benign
Transcript: ENSMUST00000112612
AA Change: S669P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000108231
Gene: ENSMUSG00000052942
AA Change: S669P
| 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: ENSMUST00000162022
|
| SMART Domains |
Protein: ENSMUSP00000124635
Gene: ENSMUSG00000052942
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.3%
|
| Validation Efficiency |
98% (48/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,018,289 (GRCm39) |
S1110R |
possibly damaging |
Het |
| Adam15 |
C |
T |
3: 89,254,513 (GRCm39) |
R123Q |
probably benign |
Het |
| AI987944 |
A |
G |
7: 41,024,489 (GRCm39) |
|
probably null |
Het |
| Ankrd31 |
T |
C |
13: 97,003,003 (GRCm39) |
|
probably null |
Het |
| Arfgef3 |
C |
A |
10: 18,486,951 (GRCm39) |
|
probably null |
Het |
| Atp6v0c |
C |
T |
17: 24,383,553 (GRCm39) |
S98N |
possibly damaging |
Het |
| Camsap1 |
T |
C |
2: 25,824,309 (GRCm39) |
N1417S |
probably damaging |
Het |
| Cct7 |
T |
C |
6: 85,438,045 (GRCm39) |
S96P |
probably damaging |
Het |
| Cd200l1 |
T |
C |
16: 45,264,304 (GRCm39) |
T85A |
probably benign |
Het |
| Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
| Cib4 |
T |
C |
5: 30,691,562 (GRCm39) |
D53G |
probably benign |
Het |
| Cntn6 |
T |
A |
6: 104,705,298 (GRCm39) |
S244T |
probably benign |
Het |
| Cubn |
G |
T |
2: 13,393,659 (GRCm39) |
D1447E |
probably damaging |
Het |
| Ebf3 |
T |
C |
7: 136,914,872 (GRCm39) |
E102G |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,557,256 (GRCm39) |
V399E |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,082 (GRCm39) |
E1423G |
possibly damaging |
Het |
| Hipk1 |
T |
C |
3: 103,660,710 (GRCm39) |
T742A |
possibly damaging |
Het |
| Igdcc4 |
C |
A |
9: 65,039,023 (GRCm39) |
T890N |
possibly damaging |
Het |
| Jcad |
C |
T |
18: 4,649,384 (GRCm39) |
T85I |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,762,823 (GRCm39) |
K316E |
probably damaging |
Het |
| Lrig1 |
T |
C |
6: 94,588,610 (GRCm39) |
D513G |
possibly damaging |
Het |
| Lrrn4 |
T |
C |
2: 132,719,934 (GRCm39) |
N289D |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,061,487 (GRCm39) |
M829V |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,741,458 (GRCm39) |
R495H |
probably benign |
Het |
| Nqo2 |
T |
C |
13: 34,169,461 (GRCm39) |
Y228H |
probably benign |
Het |
| Nrg2 |
T |
A |
18: 36,165,430 (GRCm39) |
E394V |
probably benign |
Het |
| Oas1e |
T |
C |
5: 120,926,060 (GRCm39) |
N336S |
probably benign |
Het |
| Obi1 |
G |
T |
14: 104,716,681 (GRCm39) |
S564* |
probably null |
Het |
| Or51i2 |
G |
T |
7: 103,689,122 (GRCm39) |
G40W |
probably benign |
Het |
| Or52b4i |
T |
A |
7: 102,192,065 (GRCm39) |
H307Q |
probably benign |
Het |
| Or5b95 |
T |
G |
19: 12,657,844 (GRCm39) |
V124G |
probably damaging |
Het |
| Pax4 |
T |
C |
6: 28,442,513 (GRCm39) |
D305G |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,611,185 (GRCm39) |
N48K |
probably damaging |
Het |
| Pcdhb20 |
G |
T |
18: 37,639,663 (GRCm39) |
E730* |
probably null |
Het |
| Pde4a |
A |
T |
9: 21,102,673 (GRCm39) |
D119V |
possibly damaging |
Het |
| Pgam1 |
T |
C |
19: 41,904,149 (GRCm39) |
V82A |
probably benign |
Het |
| Phf11a |
C |
T |
14: 59,521,773 (GRCm39) |
G133S |
probably damaging |
Het |
| Phlpp1 |
TGCGCGCGCGC |
TGCGCGCGC |
1: 106,100,522 (GRCm39) |
|
probably null |
Het |
| Piwil1 |
T |
C |
5: 128,826,914 (GRCm39) |
V558A |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,202,319 (GRCm39) |
V59A |
unknown |
Het |
| Psd4 |
T |
A |
2: 24,286,701 (GRCm39) |
S353T |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,618,584 (GRCm39) |
L3877H |
probably damaging |
Het |
| S100a2 |
T |
C |
3: 90,498,616 (GRCm39) |
V39A |
possibly damaging |
Het |
| Tanc2 |
T |
A |
11: 105,814,048 (GRCm39) |
S1831T |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,465,554 (GRCm39) |
K1904R |
probably damaging |
Het |
| Zfp141 |
A |
G |
7: 42,124,481 (GRCm39) |
C664R |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCCAAGTAGCAATAGTTGTGG -3'
(R):5'- GAATTAGCCCATACCACAGTTTG -3'
Sequencing Primer
(F):5'- CCAAGTAGCAATAGTTGTGGATATG -3'
(R):5'- TGGCCTTAGGATAATAAGCCAGTCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation