Incidental Mutation 'R0981:Glis1'
| ID |
97132 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R0981 (G1)
|
| Quality Score |
93 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
107291788-107492258 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107472239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 272
(E272G)
|
| 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: E460G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: E460G
| 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: E272G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: E272G
| 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 |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.4%
- 20x: 89.6%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
A |
17: 45,831,257 (GRCm39) |
C942S |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,051 (GRCm39) |
N984S |
possibly damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,459,610 (GRCm39) |
V68A |
possibly damaging |
Het |
| Asap2 |
T |
C |
12: 21,315,961 (GRCm39) |
S960P |
probably damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,851,491 (GRCm39) |
N66K |
probably damaging |
Het |
| Cckar |
C |
T |
5: 53,863,632 (GRCm39) |
G39R |
probably damaging |
Het |
| Cimap1a |
A |
G |
7: 140,428,208 (GRCm39) |
M7V |
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Cpb1 |
C |
A |
3: 20,329,654 (GRCm39) |
R24L |
probably benign |
Het |
| Dlg5 |
T |
G |
14: 24,204,699 (GRCm39) |
R1258S |
probably damaging |
Het |
| Fanci |
A |
G |
7: 79,054,914 (GRCm39) |
Q148R |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,784,535 (GRCm39) |
Y198* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,760,588 (GRCm39) |
|
probably null |
Het |
| Gm13741 |
T |
C |
2: 87,486,578 (GRCm39) |
N229S |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,763,922 (GRCm39) |
I392F |
probably damaging |
Het |
| H2-M2 |
T |
C |
17: 37,793,521 (GRCm39) |
T162A |
probably benign |
Het |
| Hk2 |
G |
A |
6: 82,720,949 (GRCm39) |
R190W |
probably damaging |
Het |
| Irf1 |
T |
C |
11: 53,664,548 (GRCm39) |
*52R |
probably null |
Het |
| Lman2l |
T |
A |
1: 36,484,314 (GRCm39) |
M1L |
unknown |
Het |
| Mgat1 |
C |
T |
11: 49,151,882 (GRCm39) |
R122C |
probably damaging |
Het |
| Mtrf1 |
T |
C |
14: 79,639,030 (GRCm39) |
L54S |
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,178,873 (GRCm39) |
L676F |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,226,174 (GRCm39) |
I786T |
probably damaging |
Het |
| Or5p64 |
AGGT |
A |
7: 107,855,228 (GRCm39) |
|
probably benign |
Het |
| Or5p64 |
GGTAG |
GG |
7: 107,855,229 (GRCm39) |
|
probably benign |
Het |
| Pfn1 |
G |
A |
11: 70,542,964 (GRCm39) |
R137C |
probably benign |
Het |
| Pgbd5 |
G |
A |
8: 125,111,032 (GRCm39) |
R129* |
probably null |
Het |
| Pibf1 |
T |
C |
14: 99,388,179 (GRCm39) |
|
probably null |
Het |
| Pkd2l1 |
A |
G |
19: 44,142,861 (GRCm39) |
|
probably null |
Het |
| Plin5 |
C |
A |
17: 56,421,020 (GRCm39) |
R215L |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,533,550 (GRCm39) |
|
probably benign |
Het |
| Rnasel |
T |
G |
1: 153,635,345 (GRCm39) |
C608G |
probably benign |
Het |
| Slc28a2 |
T |
A |
2: 122,281,465 (GRCm39) |
V218D |
probably damaging |
Het |
| Snx1 |
T |
C |
9: 66,016,841 (GRCm39) |
I29V |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,752,000 (GRCm39) |
W939R |
probably damaging |
Het |
| Tmem237 |
C |
A |
1: 59,157,164 (GRCm39) |
R15L |
probably damaging |
Het |
| Tmx3 |
T |
C |
18: 90,555,324 (GRCm39) |
V347A |
probably benign |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,389 (GRCm39) |
T122A |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,869,049 (GRCm39) |
N326K |
probably benign |
Het |
| Zfp408 |
A |
G |
2: 91,475,528 (GRCm39) |
L642P |
probably benign |
Het |
| Zfp808 |
C |
A |
13: 62,319,487 (GRCm39) |
H239N |
possibly damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCCCAGAGGCTTAGGAAAGCAG -3'
(R):5'- TTGAGTGAGAGCACCCAATTCCCC -3'
Sequencing Primer
(F):5'- AAGCAGCAGGTCGTTGG -3'
(R):5'- tgctacaactggaggatgac -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation