Incidental Mutation 'IGL03189:Glis1'
ID |
412590 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Glis1
|
Ensembl Gene |
ENSMUSG00000034762 |
Gene Name |
GLIS family zinc finger 1 |
Synonyms |
GliH1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03189
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
107291788-107492258 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107472248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 275
(Y275C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102349
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046005]
[ENSMUST00000106738]
|
AlphaFold |
Q8K1M4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046005
AA Change: Y463C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035650 Gene: ENSMUSG00000034762 AA Change: Y463C
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
62 |
N/A |
INTRINSIC |
low complexity region
|
118 |
129 |
N/A |
INTRINSIC |
low complexity region
|
242 |
255 |
N/A |
INTRINSIC |
low complexity region
|
274 |
288 |
N/A |
INTRINSIC |
low complexity region
|
334 |
357 |
N/A |
INTRINSIC |
ZnF_C2H2
|
366 |
391 |
3.99e0 |
SMART |
ZnF_C2H2
|
400 |
427 |
4.12e0 |
SMART |
ZnF_C2H2
|
433 |
457 |
7.78e-3 |
SMART |
ZnF_C2H2
|
463 |
487 |
1.45e-2 |
SMART |
ZnF_C2H2
|
493 |
517 |
5.59e-4 |
SMART |
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
low complexity region
|
635 |
658 |
N/A |
INTRINSIC |
low complexity region
|
666 |
686 |
N/A |
INTRINSIC |
low complexity region
|
721 |
735 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106738
AA Change: Y275C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102349 Gene: ENSMUSG00000034762 AA Change: Y275C
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
low complexity region
|
86 |
100 |
N/A |
INTRINSIC |
low complexity region
|
146 |
169 |
N/A |
INTRINSIC |
ZnF_C2H2
|
178 |
203 |
3.99e0 |
SMART |
ZnF_C2H2
|
212 |
239 |
4.12e0 |
SMART |
ZnF_C2H2
|
245 |
269 |
7.78e-3 |
SMART |
ZnF_C2H2
|
275 |
299 |
1.45e-2 |
SMART |
ZnF_C2H2
|
305 |
329 |
5.59e-4 |
SMART |
low complexity region
|
355 |
369 |
N/A |
INTRINSIC |
low complexity region
|
447 |
470 |
N/A |
INTRINSIC |
low complexity region
|
478 |
498 |
N/A |
INTRINSIC |
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125573
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138211
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008] PHENOTYPE: Homozygous mice do not exhibit any overt abnormalities, including behavior, kidney or tooth morphology, up to 6 months of age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
G |
5: 8,895,814 (GRCm39) |
T916A |
probably benign |
Het |
Adam22 |
A |
T |
5: 8,161,897 (GRCm39) |
Y50* |
probably null |
Het |
Adprs |
T |
C |
4: 126,211,087 (GRCm39) |
|
probably benign |
Het |
Ahnak |
G |
A |
19: 8,988,603 (GRCm39) |
V3296M |
possibly damaging |
Het |
Bfar |
A |
G |
16: 13,505,365 (GRCm39) |
D125G |
possibly damaging |
Het |
Bmp3 |
A |
T |
5: 99,020,579 (GRCm39) |
Q334L |
probably benign |
Het |
Camsap2 |
A |
T |
1: 136,209,400 (GRCm39) |
D697E |
probably damaging |
Het |
Car11 |
A |
G |
7: 45,351,879 (GRCm39) |
T103A |
probably damaging |
Het |
Cecr2 |
T |
A |
6: 120,739,391 (GRCm39) |
S1373T |
probably benign |
Het |
Cenpm |
A |
G |
15: 82,118,634 (GRCm39) |
V160A |
possibly damaging |
Het |
Chl1 |
A |
T |
6: 103,660,168 (GRCm39) |
I365F |
possibly damaging |
Het |
Col20a1 |
C |
T |
2: 180,651,200 (GRCm39) |
Q1089* |
probably null |
Het |
Csf1r |
A |
T |
18: 61,239,058 (GRCm39) |
T13S |
probably benign |
Het |
Fam13a |
T |
C |
6: 58,933,843 (GRCm39) |
E249G |
probably damaging |
Het |
Fgd6 |
G |
A |
10: 93,880,318 (GRCm39) |
V391I |
probably benign |
Het |
Fhdc1 |
G |
A |
3: 84,362,368 (GRCm39) |
|
probably benign |
Het |
Fn3krp |
T |
C |
11: 121,320,456 (GRCm39) |
I267T |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,890,930 (GRCm39) |
I2820F |
probably benign |
Het |
Fyb2 |
A |
G |
4: 104,872,939 (GRCm39) |
I771V |
probably damaging |
Het |
Gata3os |
A |
G |
2: 9,888,634 (GRCm39) |
|
probably benign |
Het |
Hdgf |
A |
G |
3: 87,820,735 (GRCm39) |
T62A |
possibly damaging |
Het |
Hsd17b3 |
C |
T |
13: 64,210,901 (GRCm39) |
|
probably null |
Het |
Ift56 |
C |
T |
6: 38,402,166 (GRCm39) |
P553S |
probably benign |
Het |
Iqgap1 |
T |
A |
7: 80,363,590 (GRCm39) |
Y1655F |
probably benign |
Het |
Izumo1 |
A |
G |
7: 45,274,588 (GRCm39) |
D181G |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,268,822 (GRCm39) |
|
probably benign |
Het |
Mark1 |
T |
C |
1: 184,651,890 (GRCm39) |
N95S |
probably damaging |
Het |
Mbd5 |
A |
G |
2: 49,147,763 (GRCm39) |
K658E |
probably damaging |
Het |
Mcm6 |
C |
T |
1: 128,272,039 (GRCm39) |
D453N |
probably damaging |
Het |
Mfsd14a |
T |
C |
3: 116,435,504 (GRCm39) |
D187G |
probably benign |
Het |
Mrpl19 |
G |
T |
6: 81,938,974 (GRCm39) |
S276* |
probably null |
Het |
Ncoa2 |
G |
A |
1: 13,260,360 (GRCm39) |
T105M |
probably damaging |
Het |
Nop14 |
A |
G |
5: 34,807,972 (GRCm39) |
|
probably benign |
Het |
Or2ah1 |
A |
G |
2: 85,653,902 (GRCm39) |
T196A |
probably benign |
Het |
Or2aj5 |
T |
C |
16: 19,425,341 (GRCm39) |
T26A |
probably benign |
Het |
Or5w19 |
G |
A |
2: 87,698,559 (GRCm39) |
A75T |
possibly damaging |
Het |
Otud7b |
G |
A |
3: 96,062,795 (GRCm39) |
S678N |
probably benign |
Het |
Pcdhb6 |
G |
A |
18: 37,469,205 (GRCm39) |
V25M |
probably damaging |
Het |
Prpf39 |
G |
T |
12: 65,090,076 (GRCm39) |
G5* |
probably null |
Het |
Serpinb9d |
T |
C |
13: 33,386,895 (GRCm39) |
V321A |
probably damaging |
Het |
Sh2b1 |
A |
G |
7: 126,067,702 (GRCm39) |
S613P |
possibly damaging |
Het |
Snx30 |
T |
C |
4: 59,857,452 (GRCm39) |
I55T |
probably benign |
Het |
Spata13 |
T |
C |
14: 60,929,063 (GRCm39) |
I207T |
possibly damaging |
Het |
Suco |
T |
C |
1: 161,684,906 (GRCm39) |
|
probably benign |
Het |
Svs5 |
A |
G |
2: 164,079,032 (GRCm39) |
S292P |
possibly damaging |
Het |
Tcam1 |
A |
G |
11: 106,176,212 (GRCm39) |
I313V |
probably benign |
Het |
Tmem45a |
A |
T |
16: 56,631,936 (GRCm39) |
Y227* |
probably null |
Het |
Tnfsf15 |
A |
G |
4: 63,648,289 (GRCm39) |
|
probably benign |
Het |
Vmn2r4 |
C |
A |
3: 64,296,589 (GRCm39) |
R732L |
possibly damaging |
Het |
Wdr7 |
C |
T |
18: 63,893,672 (GRCm39) |
T602I |
probably benign |
Het |
|
Other mutations in Glis1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02157:Glis1
|
APN |
4 |
107,484,758 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02450:Glis1
|
APN |
4 |
107,484,726 (GRCm39) |
missense |
probably benign |
0.25 |
IGL03167:Glis1
|
APN |
4 |
107,293,102 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03377:Glis1
|
APN |
4 |
107,489,478 (GRCm39) |
missense |
probably damaging |
0.98 |
glenys
|
UTSW |
4 |
107,484,740 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0551:Glis1
|
UTSW |
4 |
107,425,316 (GRCm39) |
splice site |
probably null |
|
R0981:Glis1
|
UTSW |
4 |
107,472,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R1036:Glis1
|
UTSW |
4 |
107,489,461 (GRCm39) |
missense |
probably benign |
0.05 |
R1527:Glis1
|
UTSW |
4 |
107,425,123 (GRCm39) |
missense |
probably damaging |
0.96 |
R1741:Glis1
|
UTSW |
4 |
107,425,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R2937:Glis1
|
UTSW |
4 |
107,489,488 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2938:Glis1
|
UTSW |
4 |
107,489,488 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4223:Glis1
|
UTSW |
4 |
107,425,042 (GRCm39) |
missense |
probably benign |
0.01 |
R4412:Glis1
|
UTSW |
4 |
107,491,915 (GRCm39) |
missense |
probably damaging |
0.99 |
R4587:Glis1
|
UTSW |
4 |
107,484,740 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4685:Glis1
|
UTSW |
4 |
107,424,842 (GRCm39) |
missense |
probably benign |
0.00 |
R4900:Glis1
|
UTSW |
4 |
107,476,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R5138:Glis1
|
UTSW |
4 |
107,480,302 (GRCm39) |
frame shift |
probably null |
|
R5167:Glis1
|
UTSW |
4 |
107,491,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R5511:Glis1
|
UTSW |
4 |
107,293,074 (GRCm39) |
missense |
probably damaging |
0.99 |
R5568:Glis1
|
UTSW |
4 |
107,476,832 (GRCm39) |
missense |
probably damaging |
0.99 |
R5807:Glis1
|
UTSW |
4 |
107,425,279 (GRCm39) |
missense |
probably benign |
0.00 |
R6006:Glis1
|
UTSW |
4 |
107,425,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R6180:Glis1
|
UTSW |
4 |
107,484,710 (GRCm39) |
missense |
probably benign |
0.06 |
R6219:Glis1
|
UTSW |
4 |
107,489,102 (GRCm39) |
missense |
probably benign |
0.27 |
R6856:Glis1
|
UTSW |
4 |
107,293,076 (GRCm39) |
missense |
probably damaging |
0.96 |
R7278:Glis1
|
UTSW |
4 |
107,292,880 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R7877:Glis1
|
UTSW |
4 |
107,491,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R7937:Glis1
|
UTSW |
4 |
107,484,723 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7940:Glis1
|
UTSW |
4 |
107,489,572 (GRCm39) |
missense |
probably damaging |
0.99 |
R7940:Glis1
|
UTSW |
4 |
107,489,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R7954:Glis1
|
UTSW |
4 |
107,476,854 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8078:Glis1
|
UTSW |
4 |
107,425,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R8931:Glis1
|
UTSW |
4 |
107,421,060 (GRCm39) |
missense |
probably benign |
0.35 |
R9227:Glis1
|
UTSW |
4 |
107,425,327 (GRCm39) |
missense |
probably benign |
0.45 |
R9230:Glis1
|
UTSW |
4 |
107,425,327 (GRCm39) |
missense |
probably benign |
0.45 |
R9767:Glis1
|
UTSW |
4 |
107,491,794 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2016-08-02 |