Incidental Mutation 'R7839:Glis3'
| ID |
606191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glis3
|
| Ensembl Gene |
ENSMUSG00000052942 |
| Gene Name |
GLIS family zinc finger 3 |
| Synonyms |
E330013K21Rik, 4833409N03Rik |
| MMRRC Submission |
045893-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R7839 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
28236251-28657477 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28294773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 675
(D675G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065113]
[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 |
possibly damaging
Transcript: ENSMUST00000162022
AA Change: D675G
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124635
Gene: ENSMUSG00000052942
AA Change: D675G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,025,085 (GRCm39) |
M986K |
probably benign |
Het |
| Adcyap1 |
A |
G |
17: 93,511,413 (GRCm39) |
K129R |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,526,528 (GRCm39) |
D90G |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,411,213 (GRCm39) |
H1361Y |
probably damaging |
Het |
| Aqp4 |
T |
A |
18: 15,532,737 (GRCm39) |
I119F |
possibly damaging |
Het |
| Bfsp1 |
T |
A |
2: 143,673,770 (GRCm39) |
I313F |
possibly damaging |
Het |
| Cxcl9 |
A |
G |
5: 92,475,869 (GRCm39) |
V5A |
probably benign |
Het |
| Cyfip1 |
G |
A |
7: 55,536,483 (GRCm39) |
V304M |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,772 (GRCm39) |
V334A |
probably damaging |
Het |
| Cyp2j12 |
A |
G |
4: 95,987,893 (GRCm39) |
V499A |
possibly damaging |
Het |
| Cyth3 |
A |
G |
5: 143,683,509 (GRCm39) |
E136G |
probably benign |
Het |
| Degs2 |
CTTAGTGAAT |
CT |
12: 108,658,460 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,606,334 (GRCm39) |
S1229P |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,424,818 (GRCm39) |
C2087* |
probably null |
Het |
| Dop1b |
A |
T |
16: 93,560,829 (GRCm39) |
H889L |
probably damaging |
Het |
| Elf1 |
A |
G |
14: 79,773,855 (GRCm39) |
E22G |
probably benign |
Het |
| Gbgt1 |
T |
C |
2: 28,393,182 (GRCm39) |
V90A |
probably damaging |
Het |
| Glt8d1 |
G |
T |
14: 30,723,788 (GRCm39) |
|
probably benign |
Het |
| Gzf1 |
T |
A |
2: 148,525,815 (GRCm39) |
Y95* |
probably null |
Het |
| Insig2 |
T |
C |
1: 121,240,049 (GRCm39) |
I84V |
probably benign |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,256 (GRCm39) |
S3P |
unknown |
Het |
| Nell2 |
T |
C |
15: 95,196,819 (GRCm39) |
N499S |
probably benign |
Het |
| Nlrp9b |
G |
A |
7: 19,758,398 (GRCm39) |
R545H |
possibly damaging |
Het |
| Obox7 |
T |
A |
7: 14,399,350 (GRCm39) |
I192N |
probably benign |
Het |
| Or10ad1 |
T |
C |
15: 98,106,026 (GRCm39) |
I80V |
probably damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,899 (GRCm39) |
I171F |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,060,583 (GRCm39) |
V3118E |
probably damaging |
Het |
| Plk3 |
T |
C |
4: 116,986,527 (GRCm39) |
T571A |
probably damaging |
Het |
| Ppa2 |
T |
C |
3: 133,082,351 (GRCm39) |
|
probably null |
Het |
| Rabl6 |
A |
T |
2: 25,482,829 (GRCm39) |
H183Q |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,238 (GRCm39) |
S387T |
possibly damaging |
Het |
| Rbm33 |
A |
G |
5: 28,573,397 (GRCm39) |
|
probably null |
Het |
| Robo4 |
T |
C |
9: 37,322,055 (GRCm39) |
S724P |
probably damaging |
Het |
| Rtf2 |
T |
C |
2: 172,308,253 (GRCm39) |
|
probably null |
Het |
| Sft2d1rt |
T |
C |
11: 45,942,887 (GRCm39) |
T79A |
possibly damaging |
Het |
| Slc45a2 |
A |
T |
15: 11,027,835 (GRCm39) |
Q468L |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,240,660 (GRCm39) |
I428V |
probably benign |
Het |
| Sp140l2 |
C |
T |
1: 85,224,736 (GRCm39) |
M266I |
probably benign |
Het |
| Taar7f |
C |
A |
10: 23,925,967 (GRCm39) |
A187E |
possibly damaging |
Het |
| Tmt1a |
T |
C |
15: 100,202,957 (GRCm39) |
V77A |
possibly damaging |
Het |
| Tob1 |
T |
A |
11: 94,104,598 (GRCm39) |
Y45N |
probably damaging |
Het |
| Trappc10 |
A |
G |
10: 78,024,646 (GRCm39) |
V1161A |
possibly damaging |
Het |
| Trbv13-2 |
T |
C |
6: 41,098,521 (GRCm39) |
V32A |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,254,176 (GRCm39) |
L133Q |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,538,512 (GRCm39) |
T34729A |
probably benign |
Het |
| Uba6 |
G |
T |
5: 86,270,271 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,840,596 (GRCm39) |
D85G |
possibly damaging |
Het |
| Vmn1r176 |
T |
C |
7: 23,534,394 (GRCm39) |
D253G |
possibly damaging |
Het |
| Vmn2r34 |
T |
A |
7: 7,687,173 (GRCm39) |
I175F |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,032 (GRCm39) |
I215N |
probably damaging |
Het |
| Vwa5a |
C |
A |
9: 38,634,799 (GRCm39) |
S202R |
probably damaging |
Het |
| Zfp383 |
G |
A |
7: 29,614,483 (GRCm39) |
C246Y |
probably damaging |
Het |
| Zfp40 |
T |
C |
17: 23,395,963 (GRCm39) |
D208G |
probably damaging |
Het |
| Zfp992 |
C |
A |
4: 146,550,875 (GRCm39) |
L199I |
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 |
|
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'- ACACCGCAGATGAGTCTCAG -3'
(R):5'- CGTGTCTCCTAAAGTACCCAC -3'
Sequencing Primer
(F):5'- TCTCAGGCGAACAAGATTTGCTG -3'
(R):5'- GGCCAGATAACTGACCCTTCTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation