Incidental Mutation 'IGL02157:Glis1'
| ID |
282273 |
| 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 # |
IGL02157
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
107291788-107492258 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107484758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 418
(T418A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046005]
[ENSMUST00000106738]
|
| AlphaFold |
Q8K1M4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046005
AA Change: T606A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: T606A
| 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 benign
Transcript: ENSMUST00000106738
AA Change: T418A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: T418A
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,855,487 (GRCm39) |
|
probably benign |
Het |
| Amotl1 |
A |
T |
9: 14,483,011 (GRCm39) |
|
probably benign |
Het |
| Amph |
A |
T |
13: 19,288,401 (GRCm39) |
T297S |
possibly damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,444,263 (GRCm39) |
V198A |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,339,772 (GRCm39) |
D216G |
possibly damaging |
Het |
| Cdh13 |
T |
C |
8: 119,232,410 (GRCm39) |
I38T |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,748,177 (GRCm39) |
T457A |
probably benign |
Het |
| Clstn2 |
A |
C |
9: 97,423,928 (GRCm39) |
M279R |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Fam83h |
A |
T |
15: 75,876,904 (GRCm39) |
V208E |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,894 (GRCm39) |
N785S |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,378,589 (GRCm39) |
L225P |
probably damaging |
Het |
| Gbp11 |
C |
T |
5: 105,475,374 (GRCm39) |
V325M |
possibly damaging |
Het |
| Hook2 |
C |
T |
8: 85,727,779 (GRCm39) |
|
probably benign |
Het |
| Hoxa6 |
C |
A |
6: 52,185,171 (GRCm39) |
C145F |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mbd5 |
T |
C |
2: 49,168,987 (GRCm39) |
V1156A |
probably benign |
Het |
| Mon2 |
G |
A |
10: 122,849,377 (GRCm39) |
P1308S |
probably damaging |
Het |
| Mta2 |
T |
A |
19: 8,924,613 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,219,385 (GRCm39) |
L867* |
probably null |
Het |
| Oca2 |
G |
A |
7: 55,974,545 (GRCm39) |
|
probably null |
Het |
| Or13a22 |
T |
A |
7: 140,072,847 (GRCm39) |
C99S |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,407,019 (GRCm39) |
E165G |
probably damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,585 (GRCm39) |
V154E |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,874,370 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,380,947 (GRCm39) |
C359S |
probably damaging |
Het |
| Rhbdd3 |
T |
C |
11: 5,055,424 (GRCm39) |
|
probably benign |
Het |
| Timeless |
T |
A |
10: 128,078,255 (GRCm39) |
V255E |
probably benign |
Het |
| Tmt1b |
T |
G |
10: 128,796,486 (GRCm39) |
T108P |
possibly damaging |
Het |
| Trh |
A |
T |
6: 92,219,948 (GRCm39) |
S123T |
probably benign |
Het |
| Ugdh |
C |
T |
5: 65,580,035 (GRCm39) |
A252T |
probably damaging |
Het |
| Zfp619 |
A |
G |
7: 39,184,288 (GRCm39) |
Y106C |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,696,924 (GRCm39) |
P564S |
unknown |
Het |
|
| Other mutations in Glis1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03189:Glis1
|
APN |
4 |
107,472,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation