Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01633:Gli3'

93614

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gli3

Ensembl Gene

ENSMUSG00000021318

Gene Name

GLI-Kruppel family member GLI3

Synonyms

brachyphalangy, Bph

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01633

Quality Score

Status

Chromosome

Chromosomal Location

15463235-15730026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15648634 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 314 (P314S)

Ref Sequence

ENSEMBL: ENSMUSP00000115989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110510] [ENSMUST00000130065]

AlphaFold

Q61602

Predicted Effect

probably damaging
Transcript: ENSMUST00000110510
AA Change: P314S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: P314S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000130065
AA Change: P314S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115989
Gene: ENSMUSG00000021318
AA Change: P314S

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	596	1.45e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220835

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,444,394 (GRCm38)	S1868T	possibly damaging	Het
Abca3	G	A	17: 24,397,353 (GRCm38)	W923*	probably null	Het
Abca8b	A	G	11: 109,936,754 (GRCm38)	M1476T	probably damaging	Het
Abi3bp	T	C	16: 56,677,800 (GRCm38)	F729S	probably damaging	Het
Acacb	T	C	5: 114,218,858 (GRCm38)		probably benign	Het
Aldh3a2	A	G	11: 61,248,905 (GRCm38)	L467P	probably benign	Het
Appl1	T	C	14: 26,962,838 (GRCm38)	T85A	probably damaging	Het
Aspm	T	A	1: 139,480,836 (GRCm38)	I2487N	possibly damaging	Het
Bcl2a1c	G	A	9: 114,330,222 (GRCm38)	V23I	probably benign	Het
C2cd2	T	A	16: 97,875,123 (GRCm38)		probably benign	Het
Carmil3	A	T	14: 55,494,227 (GRCm38)	H170L	possibly damaging	Het
Ccdc141	C	T	2: 77,089,249 (GRCm38)	V305I	probably benign	Het
Ccdc174	G	A	6: 91,880,362 (GRCm38)		probably null	Het
Cep126	T	G	9: 8,103,319 (GRCm38)	Q230P	possibly damaging	Het
Chrm1	T	C	19: 8,678,495 (GRCm38)	I188T	probably benign	Het
Depdc5	T	C	5: 32,924,200 (GRCm38)	S569P	probably damaging	Het
Drc1	G	A	5: 30,345,663 (GRCm38)	E177K	probably damaging	Het
Duox1	A	G	2: 122,333,798 (GRCm38)	E913G	probably benign	Het
Fam35a	G	T	14: 34,249,179 (GRCm38)	T31K	probably damaging	Het
Fbxw9	T	C	8: 85,064,426 (GRCm38)	S241P	probably damaging	Het
Fez2	C	A	17: 78,404,718 (GRCm38)		probably benign	Het
Fga	G	T	3: 83,030,299 (GRCm38)	R161L	possibly damaging	Het
Fn3krp	G	T	11: 121,429,707 (GRCm38)	G293*	probably null	Het
Gfra1	C	T	19: 58,267,047 (GRCm38)	E318K	probably benign	Het
Gm5114	A	T	7: 39,408,066 (GRCm38)	S710T	probably benign	Het
Gpr141	T	C	13: 19,752,599 (GRCm38)	D2G	probably benign	Het
Inppl1	G	A	7: 101,833,834 (GRCm38)	Q63*	probably null	Het
Lrrc73	T	A	17: 46,255,731 (GRCm38)	V169E	possibly damaging	Het
Lsm11	C	T	11: 45,933,788 (GRCm38)	R304Q	probably benign	Het
Macf1	T	C	4: 123,502,171 (GRCm38)	D788G	probably damaging	Het
Nbas	T	A	12: 13,483,897 (GRCm38)	D1844E	probably damaging	Het
Nt5c	A	G	11: 115,491,335 (GRCm38)	F73L	probably damaging	Het
Osmr	A	T	15: 6,824,604 (GRCm38)	I541N	probably damaging	Het
Phrf1	A	G	7: 141,260,500 (GRCm38)	I1203V	probably benign	Het
Pram1	C	A	17: 33,642,135 (GRCm38)	P510Q	possibly damaging	Het
Prepl	A	G	17: 85,072,016 (GRCm38)	Y415H	probably benign	Het
Prss27	A	T	17: 24,045,676 (GRCm38)	H271L	probably damaging	Het
Ptpn18	A	G	1: 34,471,908 (GRCm38)	S287G	probably benign	Het
Ptprq	T	C	10: 107,699,723 (GRCm38)		probably benign	Het
Sars2	A	G	7: 28,747,549 (GRCm38)	K218E	probably benign	Het
Senp6	G	T	9: 80,092,394 (GRCm38)	S31I	probably damaging	Het
Skint6	C	A	4: 113,238,049 (GRCm38)	V138F	probably damaging	Het
Slc4a8	C	A	15: 100,787,247 (GRCm38)	H168N	probably damaging	Het
Tbx15	T	G	3: 99,313,042 (GRCm38)	I150S	probably damaging	Het
Tbxas1	A	G	6: 38,982,191 (GRCm38)	N103D	probably benign	Het
Tmc5	A	G	7: 118,623,586 (GRCm38)	N170D	probably damaging	Het
Tmem108	A	T	9: 103,484,751 (GRCm38)	N545K	probably benign	Het
Trub1	A	G	19: 57,453,184 (GRCm38)	K80E	possibly damaging	Het
Tulp3	A	T	6: 128,325,960 (GRCm38)	Y299N	probably 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
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
R9571:Gli3	UTSW	13	15,726,273 (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

Posted On

2013-12-09