Incidental Mutation 'R5241:Glis3'
| ID |
400876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glis3
|
| Ensembl Gene |
ENSMUSG00000052942 |
| Gene Name |
GLIS family zinc finger 3 |
| Synonyms |
E330013K21Rik, 4833409N03Rik |
| MMRRC Submission |
042812-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R5241 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
28236251-28657477 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 28327423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 663
(T663K)
|
| 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: T663K
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000108231
Gene: ENSMUSG00000052942
AA Change: T663K
| 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 |
noncoding transcript
Transcript: ENSMUST00000161026
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930033H14Rik |
A |
G |
10: 69,048,581 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
T |
C |
1: 25,150,871 (GRCm39) |
T881A |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,637,048 (GRCm39) |
C3464* |
probably null |
Het |
| Afp |
A |
G |
5: 90,649,473 (GRCm39) |
M347V |
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,068 (GRCm39) |
T1041A |
probably benign |
Het |
| Atl1 |
T |
C |
12: 70,005,887 (GRCm39) |
S398P |
possibly damaging |
Het |
| Atp8b4 |
G |
A |
2: 126,225,646 (GRCm39) |
P528L |
probably benign |
Het |
| Bahcc1 |
C |
A |
11: 120,162,229 (GRCm39) |
P176T |
probably damaging |
Het |
| Bsnd |
A |
G |
4: 106,345,182 (GRCm39) |
V88A |
probably benign |
Het |
| Dnah7c |
T |
A |
1: 46,569,660 (GRCm39) |
F687Y |
probably benign |
Het |
| Dok6 |
T |
C |
18: 89,616,913 (GRCm39) |
I23M |
possibly damaging |
Het |
| Fcgbp |
A |
T |
7: 27,784,624 (GRCm39) |
D228V |
probably damaging |
Het |
| Gatad2a |
G |
A |
8: 70,370,667 (GRCm39) |
Q107* |
probably null |
Het |
| Gm10784 |
T |
A |
13: 50,099,129 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdmc2 |
C |
T |
15: 63,696,743 (GRCm39) |
R476H |
probably benign |
Het |
| Gsdmc3 |
A |
G |
15: 63,735,995 (GRCm39) |
S202P |
possibly damaging |
Het |
| Map3k8 |
T |
C |
18: 4,340,750 (GRCm39) |
E188G |
probably damaging |
Het |
| Mccc1 |
T |
A |
3: 36,028,345 (GRCm39) |
Q487L |
probably benign |
Het |
| Msantd1 |
A |
G |
5: 35,078,813 (GRCm39) |
D116G |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,095,275 (GRCm39) |
S212T |
probably benign |
Het |
| Nr1h4 |
A |
G |
10: 89,319,351 (GRCm39) |
Y158H |
probably damaging |
Het |
| Or4p19 |
T |
C |
2: 88,242,442 (GRCm39) |
T187A |
possibly damaging |
Het |
| Or51f1e |
T |
C |
7: 102,747,524 (GRCm39) |
V192A |
probably benign |
Het |
| Or6k8-ps1 |
T |
A |
1: 173,979,667 (GRCm39) |
I195N |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,269,451 (GRCm39) |
H272Q |
probably benign |
Het |
| Pdia5 |
T |
C |
16: 35,250,145 (GRCm39) |
N242S |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,761,857 (GRCm39) |
D1441E |
probably damaging |
Het |
| Runx2 |
G |
T |
17: 44,950,664 (GRCm39) |
Y203* |
probably null |
Het |
| Sdr9c7 |
T |
G |
10: 127,745,659 (GRCm39) |
I257S |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 109,150,444 (GRCm39) |
M89T |
probably benign |
Het |
| St14 |
G |
T |
9: 31,011,714 (GRCm39) |
C397* |
probably null |
Het |
| Tas2r123 |
T |
C |
6: 132,824,181 (GRCm39) |
I26T |
probably benign |
Het |
| Tmem144 |
A |
T |
3: 79,721,431 (GRCm39) |
M329K |
probably benign |
Het |
| Tmem252 |
T |
C |
19: 24,651,491 (GRCm39) |
M20T |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,203,066 (GRCm39) |
V473A |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 8,108,700 (GRCm39) |
C149R |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,312,704 (GRCm39) |
R58* |
probably null |
Het |
| Zer1 |
A |
C |
2: 29,994,982 (GRCm39) |
L471R |
probably damaging |
Het |
| Zfp101 |
C |
T |
17: 33,601,210 (GRCm39) |
C182Y |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTACTGTTCGTCGAACGC -3'
(R):5'- AAGTCCTCTCCAAATTCCACAGTTC -3'
Sequencing Primer
(F):5'- GTCGAACGCTTTTCTTTCAAGAG -3'
(R):5'- CCAAATTCCACAGTTCCTTGTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation