Incidental Mutation 'R1527:Glis1'
ID |
166274 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glis1
|
Ensembl Gene |
ENSMUSG00000034762 |
Gene Name |
GLIS family zinc finger 1 |
Synonyms |
GliH1 |
MMRRC Submission |
039567-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1527 (G1)
|
Quality Score |
118 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
107291788-107492258 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107425123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 245
(S245P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046005]
[ENSMUST00000106738]
[ENSMUST00000135835]
|
AlphaFold |
Q8K1M4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046005
AA Change: S245P
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000035650 Gene: ENSMUSG00000034762 AA Change: S245P
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 |
possibly damaging
Transcript: ENSMUST00000106738
AA Change: S57P
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102349 Gene: ENSMUSG00000034762 AA Change: S57P
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 |
probably benign
Transcript: ENSMUST00000135835
|
SMART Domains |
Protein: ENSMUSP00000118600 Gene: ENSMUSG00000034762
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
62 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.7%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059E24Rik |
C |
A |
19: 21,575,633 (GRCm39) |
C130F |
probably damaging |
Het |
4933402N03Rik |
T |
C |
7: 130,740,589 (GRCm39) |
D209G |
probably benign |
Het |
Adam7 |
A |
G |
14: 68,738,970 (GRCm39) |
V744A |
probably benign |
Het |
Atr |
G |
T |
9: 95,752,096 (GRCm39) |
R571I |
possibly damaging |
Het |
C5ar1 |
A |
G |
7: 15,982,118 (GRCm39) |
Y301H |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,829,753 (GRCm39) |
I954T |
probably damaging |
Het |
Ccdc157 |
A |
G |
11: 4,101,795 (GRCm39) |
F42S |
probably damaging |
Het |
Cfap251 |
T |
C |
5: 123,425,408 (GRCm39) |
V789A |
probably benign |
Het |
Chd2 |
A |
T |
7: 73,140,362 (GRCm39) |
L622* |
probably null |
Het |
Csmd3 |
T |
C |
15: 47,811,483 (GRCm39) |
T1203A |
probably benign |
Het |
Cxcl17 |
A |
G |
7: 25,101,636 (GRCm39) |
V67A |
possibly damaging |
Het |
Ddx4 |
T |
C |
13: 112,758,773 (GRCm39) |
T263A |
possibly damaging |
Het |
Eps8l1 |
A |
G |
7: 4,474,393 (GRCm39) |
D288G |
probably benign |
Het |
Fbxl4 |
A |
G |
4: 22,386,154 (GRCm39) |
K254E |
probably benign |
Het |
Gm11111 |
T |
C |
5: 98,701,387 (GRCm39) |
|
probably benign |
Het |
Haus3 |
A |
T |
5: 34,311,397 (GRCm39) |
H544Q |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,649,554 (GRCm39) |
V644A |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,114,264 (GRCm39) |
L2P |
probably damaging |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Mga |
A |
G |
2: 119,747,078 (GRCm39) |
T410A |
probably damaging |
Het |
Mical3 |
T |
C |
6: 121,001,740 (GRCm39) |
D584G |
probably damaging |
Het |
Miga1 |
A |
T |
3: 152,023,300 (GRCm39) |
F250L |
possibly damaging |
Het |
Mroh1 |
A |
G |
15: 76,336,463 (GRCm39) |
D1553G |
probably benign |
Het |
Myof |
T |
C |
19: 37,913,067 (GRCm39) |
Y1462C |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,784,718 (GRCm39) |
C144R |
probably damaging |
Het |
Obox1 |
T |
C |
7: 15,289,250 (GRCm39) |
V55A |
probably damaging |
Het |
Or14j8 |
T |
A |
17: 38,263,720 (GRCm39) |
H65L |
possibly damaging |
Het |
Or4a69 |
C |
T |
2: 89,312,876 (GRCm39) |
G201D |
probably benign |
Het |
Or6c69c |
T |
A |
10: 129,911,061 (GRCm39) |
S261T |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,729,662 (GRCm39) |
|
probably benign |
Het |
Prr14l |
C |
T |
5: 32,985,293 (GRCm39) |
V1401I |
possibly damaging |
Het |
Rad51ap1 |
T |
C |
6: 126,905,130 (GRCm39) |
|
probably null |
Het |
Rev3l |
T |
A |
10: 39,698,818 (GRCm39) |
V1105D |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Sgsm2 |
A |
T |
11: 74,744,674 (GRCm39) |
C848* |
probably null |
Het |
Slc39a10 |
A |
T |
1: 46,858,422 (GRCm39) |
V625E |
probably benign |
Het |
Spry4 |
C |
T |
18: 38,723,630 (GRCm39) |
M44I |
probably benign |
Het |
Stat5b |
A |
T |
11: 100,699,220 (GRCm39) |
|
probably null |
Het |
Tas2r126 |
T |
C |
6: 42,412,070 (GRCm39) |
I201T |
probably benign |
Het |
Tasor |
T |
C |
14: 27,202,050 (GRCm39) |
|
probably null |
Het |
Tex44 |
A |
G |
1: 86,355,368 (GRCm39) |
T426A |
probably benign |
Het |
Tln2 |
T |
C |
9: 67,179,950 (GRCm39) |
D807G |
possibly damaging |
Het |
Tlr9 |
A |
G |
9: 106,100,949 (GRCm39) |
N80S |
probably benign |
Het |
Trpm7 |
A |
C |
2: 126,672,082 (GRCm39) |
H579Q |
probably benign |
Het |
Ufd1 |
T |
C |
16: 18,633,661 (GRCm39) |
S29P |
probably damaging |
Het |
Ugt2a3 |
G |
T |
5: 87,473,457 (GRCm39) |
Q487K |
probably damaging |
Het |
Zfyve9 |
A |
G |
4: 108,552,964 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- TCCAGTGCCAGCCTTTCATAATCAC -3'
(R):5'- ATGCTTCAAGCTGCAAGCTGCC -3'
Sequencing Primer
(F):5'- TTTGTGAACGGCAGCCTC -3'
(R):5'- TGCAAGCTGCCCTCCTG -3'
|
Posted On |
2014-04-13 |