Incidental Mutation 'IGL02347:Glis3'
ID |
289335 |
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 # |
IGL02347
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
28236251-28657477 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 28509283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 234
(F234L)
|
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 benign
Transcript: ENSMUST00000112612
AA Change: F234L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108231 Gene: ENSMUSG00000052942 AA Change: F234L
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
AA Change: F234L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124823 Gene: ENSMUSG00000052942 AA Change: F234L
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
AA Change: F234L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125721 Gene: ENSMUSG00000052942 AA Change: F234L
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: ENSMUST00000162022
AA Change: F234L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124635 Gene: ENSMUSG00000052942 AA Change: F234L
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9830107B12Rik |
T |
A |
17: 48,452,835 (GRCm39) |
K35* |
probably null |
Het |
Adad2 |
G |
T |
8: 120,343,408 (GRCm39) |
G546V |
probably damaging |
Het |
Bccip |
A |
G |
7: 133,311,105 (GRCm39) |
K7E |
probably benign |
Het |
C8b |
G |
A |
4: 104,644,151 (GRCm39) |
E273K |
probably benign |
Het |
Car12 |
T |
A |
9: 66,671,629 (GRCm39) |
V352D |
possibly damaging |
Het |
Cyp2d11 |
G |
A |
15: 82,274,681 (GRCm39) |
R299C |
probably benign |
Het |
Dnah10 |
A |
C |
5: 124,910,487 (GRCm39) |
|
probably null |
Het |
Eddm13 |
A |
G |
7: 6,272,883 (GRCm39) |
I79M |
possibly damaging |
Het |
Egf |
A |
T |
3: 129,472,026 (GRCm39) |
N1199K |
probably benign |
Het |
Ehbp1l1 |
A |
G |
19: 5,769,600 (GRCm39) |
W568R |
possibly damaging |
Het |
Eif1ad14 |
T |
C |
12: 87,886,359 (GRCm39) |
D90G |
probably damaging |
Het |
Emc3 |
A |
G |
6: 113,497,533 (GRCm39) |
M106T |
possibly damaging |
Het |
Fam13b |
T |
C |
18: 34,587,757 (GRCm39) |
K514E |
probably damaging |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Frg2f1 |
A |
C |
4: 119,387,929 (GRCm39) |
L190R |
probably damaging |
Het |
Frmpd1 |
A |
G |
4: 45,270,023 (GRCm39) |
|
probably null |
Het |
Grap2 |
T |
C |
15: 80,530,557 (GRCm39) |
|
probably benign |
Het |
H2-M10.2 |
T |
A |
17: 36,596,505 (GRCm39) |
E113D |
probably benign |
Het |
Itgb6 |
T |
C |
2: 60,441,756 (GRCm39) |
T685A |
probably benign |
Het |
Mrpl19 |
A |
T |
6: 81,938,992 (GRCm39) |
M270K |
probably damaging |
Het |
Msantd4 |
G |
T |
9: 4,384,734 (GRCm39) |
|
probably benign |
Het |
Msr1 |
G |
T |
8: 40,085,778 (GRCm39) |
T34K |
probably damaging |
Het |
Npc1 |
C |
T |
18: 12,332,691 (GRCm39) |
V780M |
probably benign |
Het |
Nsun6 |
A |
G |
2: 15,034,831 (GRCm39) |
|
probably benign |
Het |
Nt5c2 |
A |
G |
19: 46,912,695 (GRCm39) |
|
probably benign |
Het |
Nucb2 |
A |
C |
7: 116,135,113 (GRCm39) |
Q340P |
probably benign |
Het |
Nup50l |
A |
T |
6: 96,142,511 (GRCm39) |
Y178N |
probably damaging |
Het |
Or2l13b |
A |
G |
16: 19,349,529 (GRCm39) |
L47P |
probably damaging |
Het |
Or3a1b |
C |
T |
11: 74,012,397 (GRCm39) |
T94I |
probably benign |
Het |
Osgin1 |
A |
G |
8: 120,172,277 (GRCm39) |
E357G |
probably benign |
Het |
Pabpc6 |
C |
T |
17: 9,887,993 (GRCm39) |
R186K |
probably benign |
Het |
Pex1 |
A |
G |
5: 3,653,350 (GRCm39) |
K83R |
probably damaging |
Het |
Ppid |
A |
G |
3: 79,502,526 (GRCm39) |
I82V |
probably benign |
Het |
Pygl |
C |
T |
12: 70,248,666 (GRCm39) |
G318S |
probably benign |
Het |
Rcn1 |
A |
T |
2: 105,229,471 (GRCm39) |
V27E |
probably benign |
Het |
Rnaseh1 |
A |
T |
12: 28,707,629 (GRCm39) |
|
probably benign |
Het |
Rnf148 |
A |
G |
6: 23,654,729 (GRCm39) |
V89A |
probably benign |
Het |
Siglecf |
G |
A |
7: 43,001,145 (GRCm39) |
V38I |
possibly damaging |
Het |
Slc13a5 |
T |
C |
11: 72,149,780 (GRCm39) |
|
probably null |
Het |
Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
Sos2 |
A |
T |
12: 69,643,520 (GRCm39) |
D953E |
probably benign |
Het |
Strbp |
A |
C |
2: 37,535,660 (GRCm39) |
V16G |
probably benign |
Het |
Sycp1 |
A |
T |
3: 102,800,863 (GRCm39) |
M567K |
probably benign |
Het |
Tedc2 |
A |
C |
17: 24,439,584 (GRCm39) |
V19G |
probably damaging |
Het |
Tjp1 |
A |
G |
7: 64,950,812 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,539,564 (GRCm39) |
V26147E |
probably damaging |
Het |
Vmn1r86 |
A |
G |
7: 12,836,574 (GRCm39) |
S51P |
probably damaging |
Het |
Vmn2r83 |
A |
G |
10: 79,316,067 (GRCm39) |
T488A |
possibly damaging |
Het |
Zfp541 |
A |
G |
7: 15,817,390 (GRCm39) |
Y945C |
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 |
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 |