Incidental Mutation 'R9571:Gli3'
| ID |
722007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gli3
|
| Ensembl Gene |
ENSMUSG00000021318 |
| Gene Name |
GLI-Kruppel family member GLI3 |
| Synonyms |
brachyphalangy, Bph |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9571 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
15463235-15730026 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 15726273 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1415
(M1415K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110510]
|
| AlphaFold |
Q61602 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110510
AA Change: M1415K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: M1415K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
421 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
480 |
505 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
513 |
540 |
1.23e0 |
SMART |
|
ZnF_C2H2
|
546 |
570 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
576 |
601 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
607 |
632 |
1.4e-4 |
SMART |
|
low complexity region
|
703 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
756 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
934 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
1024 |
1038 |
N/A |
INTRINSIC |
|
low complexity region
|
1081 |
1095 |
N/A |
INTRINSIC |
|
low complexity region
|
1166 |
1175 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants die perinatally with gross polydactyly, multiple craniofacial defects, and frequently, exencephaly. Heterozygotes exhibit enlarged interfrontal bone and extra preaxial digits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020A23Rik |
A |
G |
2: 130,405,562 (GRCm38) |
D6G |
probably benign |
Het |
| Abl2 |
T |
G |
1: 156,641,514 (GRCm38) |
S783A |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,199,306 (GRCm38) |
T169S |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,323,789 (GRCm38) |
V621A |
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,776,076 (GRCm38) |
S521G |
possibly damaging |
Het |
| Ap2m1 |
G |
A |
16: 20,541,287 (GRCm38) |
G213R |
probably damaging |
Het |
| Apol11b |
C |
T |
15: 77,640,571 (GRCm38) |
E5K |
possibly damaging |
Het |
| Arl4d |
T |
C |
11: 101,667,206 (GRCm38) |
M186T |
possibly damaging |
Het |
| Cep192 |
A |
G |
18: 67,819,038 (GRCm38) |
D428G |
probably damaging |
Het |
| Ckap5 |
A |
C |
2: 91,557,608 (GRCm38) |
D266A |
probably damaging |
Het |
| Crls1 |
A |
T |
2: 132,849,873 (GRCm38) |
N106I |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 48,792,002 (GRCm38) |
|
probably benign |
Het |
| Csnk1a1 |
A |
G |
18: 61,571,898 (GRCm38) |
R161G |
possibly damaging |
Het |
| Cyp4f39 |
T |
A |
17: 32,483,222 (GRCm38) |
I231N |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,860,022 (GRCm38) |
V352D |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,964,961 (GRCm38) |
D758G |
probably damaging |
Het |
| Gatad2a |
C |
A |
8: 69,917,731 (GRCm38) |
A172S |
probably benign |
Het |
| Ghsr |
G |
T |
3: 27,372,515 (GRCm38) |
R240L |
probably benign |
Het |
| Glo1 |
G |
A |
17: 30,597,861 (GRCm38) |
T107I |
possibly damaging |
Het |
| Gm10800 |
AAAGAAAACTGAA |
ACAAGAAAACTGAA |
2: 98,667,033 (GRCm38) |
|
probably null |
Het |
| Gm17334 |
C |
T |
11: 53,772,934 (GRCm38) |
V34M |
unknown |
Het |
| Gm4981 |
G |
A |
10: 58,235,556 (GRCm38) |
L279F |
possibly damaging |
Het |
| Habp4 |
T |
A |
13: 64,174,801 (GRCm38) |
M228K |
probably benign |
Het |
| Hacl1 |
A |
G |
14: 31,622,881 (GRCm38) |
V257A |
possibly damaging |
Het |
| Ift122 |
T |
G |
6: 115,880,667 (GRCm38) |
S125A |
possibly damaging |
Het |
| Iqce |
C |
T |
5: 140,666,107 (GRCm38) |
D704N |
possibly damaging |
Het |
| Jcad |
T |
A |
18: 4,673,252 (GRCm38) |
L338* |
probably null |
Het |
| Kcnj13 |
T |
C |
1: 87,389,127 (GRCm38) |
D88G |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,220,641 (GRCm38) |
D942G |
probably damaging |
Het |
| March8 |
T |
A |
6: 116,406,276 (GRCm38) |
S271T |
probably benign |
Het |
| Meis1 |
A |
G |
11: 19,011,378 (GRCm38) |
L165S |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,136,204 (GRCm38) |
T865S |
probably benign |
Het |
| Morc3 |
T |
A |
16: 93,844,219 (GRCm38) |
N46K |
possibly damaging |
Het |
| Mpzl1 |
C |
T |
1: 165,601,805 (GRCm38) |
C219Y |
probably benign |
Het |
| Mup5 |
A |
G |
4: 61,832,550 (GRCm38) |
|
probably null |
Het |
| Ninl |
A |
T |
2: 150,949,883 (GRCm38) |
W907R |
probably benign |
Het |
| Nol6 |
A |
T |
4: 41,120,156 (GRCm38) |
S491T |
probably benign |
Het |
| Olfr1276 |
A |
T |
2: 111,257,738 (GRCm38) |
I208F |
probably benign |
Het |
| Olfr1480 |
T |
A |
19: 13,530,333 (GRCm38) |
I264N |
probably damaging |
Het |
| Olfr578 |
A |
G |
7: 102,985,014 (GRCm38) |
V50A |
probably benign |
Het |
| Olfr775 |
C |
A |
10: 129,251,313 (GRCm38) |
P260T |
possibly damaging |
Het |
| Osbpl6 |
T |
A |
2: 76,594,847 (GRCm38) |
M919K |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,762,503 (GRCm38) |
V2262E |
possibly damaging |
Het |
| Pcbp2 |
A |
G |
15: 102,474,678 (GRCm38) |
D77G |
possibly damaging |
Het |
| Pcsk7 |
G |
A |
9: 45,909,609 (GRCm38) |
R113Q |
possibly damaging |
Het |
| Pds5b |
T |
C |
5: 150,722,506 (GRCm38) |
I143T |
probably damaging |
Het |
| Polr2m |
T |
C |
9: 71,479,428 (GRCm38) |
E357G |
possibly damaging |
Het |
| Prox2 |
G |
A |
12: 85,094,992 (GRCm38) |
Q146* |
probably null |
Het |
| Ptprt |
A |
G |
2: 161,553,812 (GRCm38) |
V1167A |
probably benign |
Het |
| Rbm11 |
G |
A |
16: 75,600,655 (GRCm38) |
E158K |
possibly damaging |
Het |
| Sall2 |
A |
T |
14: 52,314,373 (GRCm38) |
V455E |
probably damaging |
Het |
| Sar1b |
T |
A |
11: 51,789,237 (GRCm38) |
L130Q |
probably damaging |
Het |
| Slc35f6 |
A |
G |
5: 30,657,836 (GRCm38) |
N369S |
possibly damaging |
Het |
| Slc39a12 |
A |
T |
2: 14,407,569 (GRCm38) |
M351L |
probably benign |
Het |
| Taf15 |
T |
A |
11: 83,504,661 (GRCm38) |
Y397* |
probably null |
Het |
| Tmprss11e |
A |
T |
5: 86,727,290 (GRCm38) |
V39D |
probably damaging |
Het |
| Trim71 |
T |
C |
9: 114,513,291 (GRCm38) |
D641G |
probably damaging |
Het |
| Trpc3 |
T |
A |
3: 36,640,760 (GRCm38) |
T682S |
probably damaging |
Het |
| Tsen54 |
T |
C |
11: 115,817,107 (GRCm38) |
|
probably null |
Het |
| Usp6nl |
A |
G |
2: 6,441,149 (GRCm38) |
N646D |
possibly damaging |
Het |
| Vip |
T |
C |
10: 5,640,661 (GRCm38) |
F12L |
probably benign |
Het |
| Vmn1r39 |
A |
T |
6: 66,804,588 (GRCm38) |
F249I |
probably benign |
Het |
| Vmn2r106 |
A |
T |
17: 20,285,379 (GRCm38) |
S18T |
probably benign |
Het |
| Vmn2r97 |
G |
T |
17: 18,929,657 (GRCm38) |
V436L |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,260,670 (GRCm38) |
|
probably null |
Het |
| Ykt6 |
T |
C |
11: 5,964,613 (GRCm38) |
V171A |
possibly damaging |
Het |
| Zfp658 |
A |
G |
7: 43,572,715 (GRCm38) |
D138G |
possibly damaging |
Het |
|
| Other mutations in Gli3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Gli3
|
APN |
13 |
15,644,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00471:Gli3
|
APN |
13 |
15,723,769 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL00484:Gli3
|
APN |
13 |
15,644,392 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL00588:Gli3
|
APN |
13 |
15,644,392 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL01161:Gli3
|
APN |
13 |
15,548,398 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL01633:Gli3
|
APN |
13 |
15,648,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01799:Gli3
|
APN |
13 |
15,726,161 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01861:Gli3
|
APN |
13 |
15,725,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02063:Gli3
|
APN |
13 |
15,726,372 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02112:Gli3
|
APN |
13 |
15,662,514 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02255:Gli3
|
APN |
13 |
15,648,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02270:Gli3
|
APN |
13 |
15,726,786 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL02336:Gli3
|
APN |
13 |
15,720,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02346:Gli3
|
APN |
13 |
15,723,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02744:Gli3
|
APN |
13 |
15,613,886 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02877:Gli3
|
APN |
13 |
15,724,742 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02975:Gli3
|
APN |
13 |
15,724,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03018:Gli3
|
APN |
13 |
15,660,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03378:Gli3
|
APN |
13 |
15,644,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03406:Gli3
|
APN |
13 |
15,648,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Capone
|
UTSW |
13 |
15,715,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Carpals
|
UTSW |
13 |
15,713,650 (GRCm38) |
critical splice donor site |
probably null |
|
|
Ness
|
UTSW |
13 |
15,723,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
FR4737:Gli3
|
UTSW |
13 |
15,644,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0110:Gli3
|
UTSW |
13 |
15,724,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0329:Gli3
|
UTSW |
13 |
15,723,558 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0330:Gli3
|
UTSW |
13 |
15,723,558 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0360:Gli3
|
UTSW |
13 |
15,724,764 (GRCm38) |
missense |
probably benign |
0.32 |
|
R0364:Gli3
|
UTSW |
13 |
15,724,764 (GRCm38) |
missense |
probably benign |
0.32 |
|
R0469:Gli3
|
UTSW |
13 |
15,724,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0616:Gli3
|
UTSW |
13 |
15,662,406 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0639:Gli3
|
UTSW |
13 |
15,724,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1072:Gli3
|
UTSW |
13 |
15,713,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1257:Gli3
|
UTSW |
13 |
15,725,996 (GRCm38) |
nonsense |
probably null |
|
|
R1270:Gli3
|
UTSW |
13 |
15,723,744 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1424:Gli3
|
UTSW |
13 |
15,726,314 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1481:Gli3
|
UTSW |
13 |
15,613,850 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1596:Gli3
|
UTSW |
13 |
15,725,471 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R1628:Gli3
|
UTSW |
13 |
15,726,312 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1721:Gli3
|
UTSW |
13 |
15,726,297 (GRCm38) |
missense |
probably benign |
0.27 |
|
R1797:Gli3
|
UTSW |
13 |
15,713,512 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1813:Gli3
|
UTSW |
13 |
15,648,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1819:Gli3
|
UTSW |
13 |
15,725,792 (GRCm38) |
nonsense |
probably null |
|
|
R1988:Gli3
|
UTSW |
13 |
15,726,380 (GRCm38) |
missense |
probably benign |
|
|
R2132:Gli3
|
UTSW |
13 |
15,725,549 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R2352:Gli3
|
UTSW |
13 |
15,662,392 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3085:Gli3
|
UTSW |
13 |
15,660,941 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3177:Gli3
|
UTSW |
13 |
15,725,982 (GRCm38) |
missense |
probably benign |
0.28 |
|
R3277:Gli3
|
UTSW |
13 |
15,725,982 (GRCm38) |
missense |
probably benign |
0.28 |
|
R4162:Gli3
|
UTSW |
13 |
15,725,115 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4497:Gli3
|
UTSW |
13 |
15,723,571 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4526:Gli3
|
UTSW |
13 |
15,713,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4979:Gli3
|
UTSW |
13 |
15,724,464 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5327:Gli3
|
UTSW |
13 |
15,548,507 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5395:Gli3
|
UTSW |
13 |
15,714,950 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5494:Gli3
|
UTSW |
13 |
15,725,982 (GRCm38) |
missense |
probably benign |
0.28 |
|
R5609:Gli3
|
UTSW |
13 |
15,548,453 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5718:Gli3
|
UTSW |
13 |
15,478,165 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5810:Gli3
|
UTSW |
13 |
15,644,309 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5896:Gli3
|
UTSW |
13 |
15,726,180 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5930:Gli3
|
UTSW |
13 |
15,548,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5964:Gli3
|
UTSW |
13 |
15,726,162 (GRCm38) |
nonsense |
probably null |
|
|
R5985:Gli3
|
UTSW |
13 |
15,723,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6224:Gli3
|
UTSW |
13 |
15,725,145 (GRCm38) |
missense |
probably benign |
|
|
R6278:Gli3
|
UTSW |
13 |
15,725,113 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6330:Gli3
|
UTSW |
13 |
15,724,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6383:Gli3
|
UTSW |
13 |
15,723,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6523:Gli3
|
UTSW |
13 |
15,713,650 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7072:Gli3
|
UTSW |
13 |
15,725,695 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7085:Gli3
|
UTSW |
13 |
15,715,062 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7228:Gli3
|
UTSW |
13 |
15,724,502 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7327:Gli3
|
UTSW |
13 |
15,725,559 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7451:Gli3
|
UTSW |
13 |
15,726,291 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R7974:Gli3
|
UTSW |
13 |
15,726,256 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8167:Gli3
|
UTSW |
13 |
15,725,643 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8170:Gli3
|
UTSW |
13 |
15,720,208 (GRCm38) |
missense |
probably benign |
|
|
R8199:Gli3
|
UTSW |
13 |
15,725,991 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8247:Gli3
|
UTSW |
13 |
15,726,775 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R8332:Gli3
|
UTSW |
13 |
15,713,548 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R8347:Gli3
|
UTSW |
13 |
15,723,525 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8559:Gli3
|
UTSW |
13 |
15,660,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8676:Gli3
|
UTSW |
13 |
15,715,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8905:Gli3
|
UTSW |
13 |
15,726,531 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9099:Gli3
|
UTSW |
13 |
15,726,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9260:Gli3
|
UTSW |
13 |
15,725,090 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9317:Gli3
|
UTSW |
13 |
15,715,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9475:Gli3
|
UTSW |
13 |
15,725,711 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9546:Gli3
|
UTSW |
13 |
15,613,858 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9621:Gli3
|
UTSW |
13 |
15,726,668 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9704:Gli3
|
UTSW |
13 |
15,723,473 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9787:Gli3
|
UTSW |
13 |
15,725,801 (GRCm38) |
missense |
probably damaging |
0.96 |
|
RF010:Gli3
|
UTSW |
13 |
15,726,369 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACAGGTACTAGGGCAGGTTG -3'
(R):5'- TTTCAGTGCCATTCCCTTGGAG -3'
Sequencing Primer
(F):5'- GGTTGGTGCTACCTCACATATCAAC -3'
(R):5'- ATTCCCTTGGAGCAGGCAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation