Incidental Mutation 'R3723:Glis3'
| ID |
270652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glis3
|
| Ensembl Gene |
ENSMUSG00000052942 |
| Gene Name |
GLIS family zinc finger 3 |
| Synonyms |
E330013K21Rik, 4833409N03Rik |
| MMRRC Submission |
040714-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R3723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
28236251-28657477 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 28239991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 97
(C97*)
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000159520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159639
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162873
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000172141
AA Change: C97*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
95% (38/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,994,217 (GRCm39) |
V5167A |
possibly damaging |
Het |
| Ano5 |
A |
G |
7: 51,226,276 (GRCm39) |
Y510C |
probably damaging |
Het |
| Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,056,327 (GRCm39) |
Q1570L |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,763 (GRCm39) |
N3415S |
possibly damaging |
Het |
| Arsk |
T |
A |
13: 76,214,772 (GRCm39) |
I361F |
probably damaging |
Het |
| C9 |
G |
A |
15: 6,512,561 (GRCm39) |
E228K |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,304,731 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,492,640 (GRCm39) |
I455V |
probably benign |
Het |
| Ckap4 |
A |
G |
10: 84,364,256 (GRCm39) |
L269P |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,486,505 (GRCm39) |
D3352V |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,041,658 (GRCm39) |
M3335K |
probably benign |
Het |
| Fam171a1 |
A |
G |
2: 3,221,412 (GRCm39) |
|
probably benign |
Het |
| Gm14221 |
C |
G |
2: 160,410,347 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8603 |
A |
C |
17: 13,737,075 (GRCm39) |
|
probably null |
Het |
| Gm9767 |
G |
T |
10: 25,954,469 (GRCm39) |
|
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,391,912 (GRCm39) |
T167A |
possibly damaging |
Het |
| Kif18b |
A |
G |
11: 102,807,102 (GRCm39) |
F78L |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,526,058 (GRCm39) |
|
probably null |
Het |
| Mipol1 |
C |
A |
12: 57,503,878 (GRCm39) |
L349I |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,803,374 (GRCm39) |
V1527A |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,359,522 (GRCm39) |
Y571* |
probably null |
Het |
| Npl |
A |
G |
1: 153,391,210 (GRCm39) |
F182L |
probably benign |
Het |
| Pan3 |
T |
A |
5: 147,440,018 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,481,680 (GRCm39) |
T342S |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,796,045 (GRCm39) |
T350A |
possibly damaging |
Het |
| Pramel28 |
T |
C |
4: 143,693,251 (GRCm39) |
T76A |
probably benign |
Het |
| Prdm4 |
A |
G |
10: 85,735,145 (GRCm39) |
S666P |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,553,252 (GRCm39) |
E148G |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,407,613 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,087,335 (GRCm39) |
S1035P |
possibly damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Supt3 |
A |
G |
17: 45,305,274 (GRCm39) |
D108G |
probably damaging |
Het |
| Tnfsf13b |
A |
G |
8: 10,081,545 (GRCm39) |
I236V |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 73,964,099 (GRCm39) |
S1511G |
probably damaging |
Het |
| Tpm1 |
G |
A |
9: 66,939,227 (GRCm39) |
|
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,282,906 (GRCm39) |
D559G |
probably damaging |
Het |
| Vmn1r117 |
T |
A |
7: 20,617,380 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,305,540 (GRCm39) |
|
probably null |
Het |
| Zfp30 |
A |
G |
7: 29,492,778 (GRCm39) |
E344G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATACACGTACCCGGGATTG -3'
(R):5'- GCAGGAGTTTCTTTTCAAAGGG -3'
Sequencing Primer
(F):5'- CACGTACCCGGGATTGATTAAAAATG -3'
(R):5'- GGGAATTTAGAGTCTCACTTTAAGG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation