Incidental Mutation 'R9767:Glis1'
| ID |
733326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glis1
|
| Ensembl Gene |
ENSMUSG00000034762 |
| Gene Name |
GLIS family zinc finger 1 |
| Synonyms |
GliH1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9767 (G1)
|
| Quality Score |
205.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
107291788-107492258 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107491794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 741
(T741S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046005]
[ENSMUST00000106738]
|
| AlphaFold |
Q8K1M4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046005
AA Change: T741S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: T741S
| 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: T553S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: T553S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
T |
3: 151,207,394 (GRCm39) |
M314L |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,823,799 (GRCm39) |
S41P |
probably damaging |
Het |
| Aox4 |
A |
C |
1: 58,274,357 (GRCm39) |
N381T |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Bpifb6 |
G |
A |
2: 153,751,148 (GRCm39) |
|
probably null |
Het |
| Cep350 |
A |
G |
1: 155,739,018 (GRCm39) |
V2275A |
probably benign |
Het |
| Cntn4 |
G |
A |
6: 106,655,395 (GRCm39) |
G831E |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dchs2 |
A |
G |
3: 83,212,206 (GRCm39) |
I2002V |
probably benign |
Het |
| Dennd2a |
G |
A |
6: 39,483,709 (GRCm39) |
R384C |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,342,796 (GRCm39) |
T136A |
possibly damaging |
Het |
| Eif2s2 |
A |
T |
2: 154,730,125 (GRCm39) |
D57E |
probably benign |
Het |
| Eml2 |
C |
T |
7: 18,920,083 (GRCm39) |
T129I |
probably benign |
Het |
| Flad1 |
A |
C |
3: 89,310,718 (GRCm39) |
I443S |
probably benign |
Het |
| Gpr156 |
A |
G |
16: 37,818,297 (GRCm39) |
Y331C |
probably damaging |
Het |
| Lrwd1 |
C |
T |
5: 136,162,856 (GRCm39) |
V122M |
possibly damaging |
Het |
| Ndufs2 |
G |
T |
1: 171,068,643 (GRCm39) |
P89Q |
probably damaging |
Het |
| Nkx1-2 |
C |
T |
7: 132,199,402 (GRCm39) |
V120I |
probably benign |
Het |
| Or2t35 |
C |
T |
14: 14,407,929 (GRCm38) |
R234W |
probably damaging |
Het |
| Or7a41 |
T |
C |
10: 78,870,765 (GRCm39) |
L45P |
possibly damaging |
Het |
| Pcdhga3 |
T |
A |
18: 37,808,096 (GRCm39) |
I183N |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,484,636 (GRCm39) |
D1973G |
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,718,101 (GRCm39) |
S938P |
probably benign |
Het |
| Prss27 |
G |
T |
17: 24,257,283 (GRCm39) |
M1I |
probably null |
Het |
| Rai14 |
T |
C |
15: 10,610,127 (GRCm39) |
T74A |
probably benign |
Het |
| Rcc2 |
C |
T |
4: 140,435,331 (GRCm39) |
R117W |
probably damaging |
Het |
| Rpl31 |
T |
A |
1: 39,410,189 (GRCm39) |
*130R |
probably null |
Het |
| Rplp0 |
T |
C |
5: 115,699,563 (GRCm39) |
S213P |
probably benign |
Het |
| Sdcbp2 |
T |
C |
2: 151,429,057 (GRCm39) |
I152T |
probably damaging |
Het |
| Senp3 |
T |
C |
11: 69,569,013 (GRCm39) |
T383A |
possibly damaging |
Het |
| Sod2 |
C |
A |
17: 13,227,180 (GRCm39) |
Q45K |
probably benign |
Het |
| Speg |
A |
T |
1: 75,403,825 (GRCm39) |
I2669F |
possibly damaging |
Het |
| Stat4 |
T |
G |
1: 52,141,653 (GRCm39) |
F577V |
probably damaging |
Het |
| Tex9 |
C |
A |
9: 72,368,518 (GRCm39) |
E377* |
probably null |
Het |
| Tmprss15 |
A |
T |
16: 78,875,977 (GRCm39) |
V119D |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,079,234 (GRCm39) |
S1800P |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,212,274 (GRCm39) |
D96G |
probably damaging |
Het |
| Vmn2r51 |
G |
T |
7: 9,839,407 (GRCm39) |
N60K |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,910,403 (GRCm39) |
D3389G |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,879,306 (GRCm39) |
E1506K |
|
Het |
| Zfp1 |
A |
G |
8: 112,396,203 (GRCm39) |
N75D |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCAGTCTGCCTGTCTTC -3'
(R):5'- TGTGATTTGAGAACCTTATGGAGAG -3'
Sequencing Primer
(F):5'- AGTCTGCCTGTCTTCCCAGC -3'
(R):5'- AGCCCTCCAGGTAGGGAAGTAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation