Incidental Mutation 'R4412:Glis1'
| ID |
327959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glis1
|
| Ensembl Gene |
ENSMUSG00000034762 |
| Gene Name |
GLIS family zinc finger 1 |
| Synonyms |
GliH1 |
| MMRRC Submission |
041135-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4412 (G1)
|
| Quality Score |
176 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
107291788-107492258 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107491915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 593
(H593R)
|
| 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: H781R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: H781R
| 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: H593R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: H593R
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,449,302 (GRCm39) |
|
probably benign |
Het |
| Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
| Alpl |
A |
G |
4: 137,485,939 (GRCm39) |
I2T |
possibly damaging |
Het |
| Chdh |
G |
T |
14: 29,753,672 (GRCm39) |
G194C |
probably damaging |
Het |
| Cp |
A |
T |
3: 20,020,517 (GRCm39) |
D170V |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,266,962 (GRCm39) |
K132E |
possibly damaging |
Het |
| Cyp2b9 |
T |
G |
7: 25,897,868 (GRCm39) |
L224R |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,981,828 (GRCm39) |
N153S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,964,509 (GRCm39) |
Y2423C |
probably damaging |
Het |
| Dnajc14 |
G |
T |
10: 128,642,074 (GRCm39) |
|
probably benign |
Het |
| Eipr1 |
A |
T |
12: 28,909,372 (GRCm39) |
D213V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,476,636 (GRCm39) |
V1894A |
probably damaging |
Het |
| Flrt2 |
G |
A |
12: 95,747,047 (GRCm39) |
V462I |
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,364,582 (GRCm39) |
E954G |
probably damaging |
Het |
| Gpr21 |
C |
G |
2: 37,407,444 (GRCm39) |
|
probably benign |
Het |
| Gsdmc3 |
A |
G |
15: 63,738,645 (GRCm39) |
M139T |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,142,368 (GRCm39) |
T749I |
probably damaging |
Het |
| Ilf3 |
C |
T |
9: 21,310,856 (GRCm39) |
P620S |
possibly damaging |
Het |
| Khdc3 |
A |
G |
9: 73,010,156 (GRCm39) |
T71A |
possibly damaging |
Het |
| Ms4a12 |
T |
C |
19: 11,207,807 (GRCm39) |
N33S |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,908,615 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
G |
A |
4: 43,644,150 (GRCm39) |
C593Y |
probably damaging |
Het |
| Npr3 |
G |
C |
15: 11,905,235 (GRCm39) |
T164R |
probably benign |
Het |
| Or4c1 |
A |
G |
2: 89,133,684 (GRCm39) |
I84T |
probably benign |
Het |
| Palld |
A |
G |
8: 62,140,406 (GRCm39) |
Y534H |
probably damaging |
Het |
| Pcdhb10 |
TC |
T |
18: 37,547,194 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
A |
C |
12: 76,624,538 (GRCm39) |
T1127P |
probably damaging |
Het |
| Podnl1 |
A |
T |
8: 84,857,294 (GRCm39) |
H301L |
probably benign |
Het |
| Ripk2 |
A |
G |
4: 16,124,511 (GRCm39) |
V399A |
probably benign |
Het |
| Rpp30 |
T |
A |
19: 36,077,655 (GRCm39) |
N172K |
possibly damaging |
Het |
| Sin3b |
C |
T |
8: 73,466,407 (GRCm39) |
A291V |
probably benign |
Het |
| Slc12a6 |
A |
T |
2: 112,166,233 (GRCm39) |
Q204L |
possibly damaging |
Het |
| Snx9 |
C |
T |
17: 5,958,669 (GRCm39) |
T249M |
probably damaging |
Het |
| Sohlh2 |
C |
A |
3: 55,104,423 (GRCm39) |
T264K |
probably damaging |
Het |
| Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,152,834 (GRCm39) |
H6674Q |
probably benign |
Het |
| Tyw1 |
T |
A |
5: 130,364,073 (GRCm39) |
|
probably null |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
probably damaging |
Het |
| Yme1l1 |
G |
A |
2: 23,065,199 (GRCm39) |
R236H |
probably 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 |
|
|
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 |
|
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'- AAGCCAGTCTGCCTGTCTTC -3'
(R):5'- CGAGGTCTGTGATTTGAGAACC -3'
Sequencing Primer
(F):5'- TTTGGAGTGCAAGACCCC -3'
(R):5'- ATAGCTCCTGGCAGGCAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation