Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00588:Gli3'

277817

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gli3

Ensembl Gene

ENSMUSG00000021318

Gene Name

GLI-Kruppel family member GLI3

Synonyms

Bph, brachyphalangy

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00588

Quality Score

Status

Chromosome

Chromosomal Location

15638308-15904611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15818977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 260 (T260S)

Ref Sequence

ENSEMBL: ENSMUSP00000106137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110510] [ENSMUST00000130065] [ENSMUST00000141194]

AlphaFold

Q61602

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110510
AA Change: T260S

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: T260S

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 benign
Transcript: ENSMUST00000130065
AA Change: T260S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115989
Gene: ENSMUSG00000021318
AA Change: T260S

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

probably benign
Transcript: ENSMUST00000141194

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arrdc5	G	A	17: 56,601,262 (GRCm39)	P288S	probably damaging	Het
Atosa	A	G	9: 74,916,863 (GRCm39)	I487M	probably damaging	Het
Cd1d1	T	C	3: 86,905,480 (GRCm39)	D171G	probably damaging	Het
Cd96	T	C	16: 45,858,917 (GRCm39)	N530S	probably benign	Het
Csn1s1	A	G	5: 87,815,118 (GRCm39)	I5V	probably benign	Het
Fam120b	T	A	17: 15,622,857 (GRCm39)	Y278*	probably null	Het
Fam186a	T	C	15: 99,825,572 (GRCm39)		probably benign	Het
Fhip1a	G	A	3: 85,579,925 (GRCm39)	T760M	probably benign	Het
Gimap6	T	C	6: 48,679,355 (GRCm39)	K227R	possibly damaging	Het
Gm12888	A	T	4: 121,176,642 (GRCm39)	M53K	possibly damaging	Het
Klhl9	C	T	4: 88,639,056 (GRCm39)	S395N	probably damaging	Het
Lpp	T	C	16: 24,663,938 (GRCm39)	M280T	probably damaging	Het
Ly96	A	G	1: 16,776,452 (GRCm39)		probably null	Het
Mamdc2	T	A	19: 23,330,680 (GRCm39)	T376S	possibly damaging	Het
Man2b1	C	A	8: 85,811,267 (GRCm39)		probably null	Het
Ndufs8	G	A	19: 3,961,740 (GRCm39)	R3C	probably benign	Het
Prox1	T	C	1: 189,855,607 (GRCm39)		probably benign	Het
Prrx1	T	C	1: 163,089,536 (GRCm39)	N97S	probably damaging	Het
Rfx3	G	A	19: 27,803,476 (GRCm39)	Q270*	probably null	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Slc1a2	A	G	2: 102,586,346 (GRCm39)	I317V	probably benign	Het
Smim15	T	C	13: 108,184,063 (GRCm39)	L23P	probably damaging	Het
Tcea3	A	T	4: 136,001,003 (GRCm39)	N338Y	probably damaging	Het
Ttn	A	T	2: 76,658,071 (GRCm39)		probably benign	Het
Zfp61	T	A	7: 23,990,520 (GRCm39)	I544F	probably benign	Het
Zfp954	C	T	7: 7,118,366 (GRCm39)	A393T	probably benign	Het

Other mutations in Gli3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Gli3	APN	13	15,818,884 (GRCm39)	missense	probably damaging	1.00
IGL00471:Gli3	APN	13	15,898,354 (GRCm39)	critical splice donor site	probably null
IGL00484:Gli3	APN	13	15,818,977 (GRCm39)	missense	possibly damaging	0.84
IGL01161:Gli3	APN	13	15,722,983 (GRCm39)	critical splice acceptor site	probably null
IGL01633:Gli3	APN	13	15,823,219 (GRCm39)	missense	probably damaging	1.00
IGL01799:Gli3	APN	13	15,900,746 (GRCm39)	missense	probably benign	0.00
IGL01861:Gli3	APN	13	15,899,910 (GRCm39)	missense	probably damaging	1.00
IGL02063:Gli3	APN	13	15,900,957 (GRCm39)	missense	possibly damaging	0.94
IGL02112:Gli3	APN	13	15,837,099 (GRCm39)	missense	probably damaging	1.00
IGL02255:Gli3	APN	13	15,823,304 (GRCm39)	missense	probably damaging	1.00
IGL02270:Gli3	APN	13	15,901,371 (GRCm39)	utr 3 prime	probably benign
IGL02336:Gli3	APN	13	15,894,874 (GRCm39)	missense	probably damaging	1.00
IGL02346:Gli3	APN	13	15,898,278 (GRCm39)	missense	probably damaging	1.00
IGL02744:Gli3	APN	13	15,788,471 (GRCm39)	critical splice donor site	probably null
IGL02877:Gli3	APN	13	15,899,327 (GRCm39)	missense	probably damaging	1.00
IGL02975:Gli3	APN	13	15,899,153 (GRCm39)	missense	probably damaging	1.00
IGL03018:Gli3	APN	13	15,834,717 (GRCm39)	missense	probably damaging	1.00
IGL03378:Gli3	APN	13	15,819,005 (GRCm39)	missense	probably damaging	1.00
IGL03406:Gli3	APN	13	15,823,166 (GRCm39)	missense	probably damaging	1.00
Capone	UTSW	13	15,889,619 (GRCm39)	missense	probably damaging	1.00
Carpals	UTSW	13	15,888,235 (GRCm39)	critical splice donor site	probably null
Ness	UTSW	13	15,898,140 (GRCm39)	missense	probably damaging	1.00
FR4737:Gli3	UTSW	13	15,818,942 (GRCm39)	missense	probably damaging	1.00
R0110:Gli3	UTSW	13	15,899,370 (GRCm39)	missense	probably damaging	1.00
R0329:Gli3	UTSW	13	15,898,143 (GRCm39)	missense	probably damaging	0.98
R0330:Gli3	UTSW	13	15,898,143 (GRCm39)	missense	probably damaging	0.98
R0360:Gli3	UTSW	13	15,899,349 (GRCm39)	missense	probably benign	0.32
R0364:Gli3	UTSW	13	15,899,349 (GRCm39)	missense	probably benign	0.32
R0469:Gli3	UTSW	13	15,899,370 (GRCm39)	missense	probably damaging	1.00
R0616:Gli3	UTSW	13	15,836,991 (GRCm39)	missense	possibly damaging	0.75
R0639:Gli3	UTSW	13	15,899,300 (GRCm39)	missense	probably damaging	1.00
R1072:Gli3	UTSW	13	15,888,190 (GRCm39)	missense	probably damaging	1.00
R1257:Gli3	UTSW	13	15,900,581 (GRCm39)	nonsense	probably null
R1270:Gli3	UTSW	13	15,898,329 (GRCm39)	missense	probably benign	0.02
R1424:Gli3	UTSW	13	15,900,899 (GRCm39)	missense	probably benign	0.00
R1481:Gli3	UTSW	13	15,788,435 (GRCm39)	missense	probably damaging	0.99
R1596:Gli3	UTSW	13	15,900,056 (GRCm39)	missense	possibly damaging	0.74
R1628:Gli3	UTSW	13	15,900,897 (GRCm39)	missense	probably benign	0.00
R1721:Gli3	UTSW	13	15,900,882 (GRCm39)	missense	probably benign	0.27
R1797:Gli3	UTSW	13	15,888,097 (GRCm39)	missense	probably damaging	0.99
R1813:Gli3	UTSW	13	15,823,276 (GRCm39)	missense	probably damaging	1.00
R1819:Gli3	UTSW	13	15,900,377 (GRCm39)	nonsense	probably null
R1988:Gli3	UTSW	13	15,900,965 (GRCm39)	missense	probably benign
R2132:Gli3	UTSW	13	15,900,134 (GRCm39)	missense	possibly damaging	0.74
R2352:Gli3	UTSW	13	15,836,977 (GRCm39)	missense	probably benign	0.02
R3085:Gli3	UTSW	13	15,835,526 (GRCm39)	missense	probably damaging	1.00
R3177:Gli3	UTSW	13	15,900,567 (GRCm39)	missense	probably benign	0.28
R3277:Gli3	UTSW	13	15,900,567 (GRCm39)	missense	probably benign	0.28
R4162:Gli3	UTSW	13	15,899,700 (GRCm39)	missense	possibly damaging	0.93
R4497:Gli3	UTSW	13	15,898,156 (GRCm39)	missense	possibly damaging	0.74
R4526:Gli3	UTSW	13	15,888,216 (GRCm39)	missense	probably damaging	1.00
R4979:Gli3	UTSW	13	15,899,049 (GRCm39)	missense	possibly damaging	0.87
R5327:Gli3	UTSW	13	15,723,092 (GRCm39)	missense	probably damaging	0.99
R5395:Gli3	UTSW	13	15,889,535 (GRCm39)	missense	probably damaging	1.00
R5494:Gli3	UTSW	13	15,900,567 (GRCm39)	missense	probably benign	0.28
R5609:Gli3	UTSW	13	15,723,038 (GRCm39)	missense	possibly damaging	0.82
R5718:Gli3	UTSW	13	15,652,750 (GRCm39)	critical splice donor site	probably null
R5810:Gli3	UTSW	13	15,818,894 (GRCm39)	missense	probably damaging	0.99
R5896:Gli3	UTSW	13	15,900,765 (GRCm39)	missense	probably benign	0.00
R5930:Gli3	UTSW	13	15,723,210 (GRCm39)	missense	probably damaging	1.00
R5964:Gli3	UTSW	13	15,900,747 (GRCm39)	nonsense	probably null
R5985:Gli3	UTSW	13	15,898,140 (GRCm39)	missense	probably damaging	1.00
R6224:Gli3	UTSW	13	15,899,730 (GRCm39)	missense	probably benign
R6278:Gli3	UTSW	13	15,899,698 (GRCm39)	missense	possibly damaging	0.69
R6330:Gli3	UTSW	13	15,899,317 (GRCm39)	missense	probably damaging	1.00
R6383:Gli3	UTSW	13	15,898,140 (GRCm39)	missense	probably damaging	1.00
R6523:Gli3	UTSW	13	15,888,235 (GRCm39)	critical splice donor site	probably null
R7072:Gli3	UTSW	13	15,900,280 (GRCm39)	missense	possibly damaging	0.51
R7085:Gli3	UTSW	13	15,889,647 (GRCm39)	missense	probably damaging	1.00
R7228:Gli3	UTSW	13	15,899,087 (GRCm39)	missense	probably benign	0.00
R7327:Gli3	UTSW	13	15,900,144 (GRCm39)	missense	probably benign	0.02
R7451:Gli3	UTSW	13	15,900,876 (GRCm39)	missense	possibly damaging	0.50
R7974:Gli3	UTSW	13	15,900,841 (GRCm39)	missense	probably benign	0.00
R8167:Gli3	UTSW	13	15,900,228 (GRCm39)	missense	probably benign	0.00
R8170:Gli3	UTSW	13	15,894,793 (GRCm39)	missense	probably benign
R8199:Gli3	UTSW	13	15,900,576 (GRCm39)	missense	probably benign	0.08
R8247:Gli3	UTSW	13	15,901,360 (GRCm39)	missense	possibly damaging	0.82
R8332:Gli3	UTSW	13	15,888,133 (GRCm39)	missense	possibly damaging	0.58
R8347:Gli3	UTSW	13	15,898,110 (GRCm39)	missense	probably damaging	1.00
R8559:Gli3	UTSW	13	15,834,717 (GRCm39)	missense	probably damaging	1.00
R8676:Gli3	UTSW	13	15,889,619 (GRCm39)	missense	probably damaging	1.00
R8905:Gli3	UTSW	13	15,901,116 (GRCm39)	missense	probably benign	0.01
R9099:Gli3	UTSW	13	15,901,320 (GRCm39)	missense	probably damaging	1.00
R9260:Gli3	UTSW	13	15,899,675 (GRCm39)	missense	probably damaging	0.99
R9317:Gli3	UTSW	13	15,889,658 (GRCm39)	missense	probably damaging	1.00
R9475:Gli3	UTSW	13	15,900,296 (GRCm39)	missense	possibly damaging	0.87
R9546:Gli3	UTSW	13	15,788,443 (GRCm39)	missense	probably benign	0.00
R9571:Gli3	UTSW	13	15,900,858 (GRCm39)	missense	probably benign	0.00
R9621:Gli3	UTSW	13	15,901,253 (GRCm39)	missense	probably benign	0.01
R9704:Gli3	UTSW	13	15,898,058 (GRCm39)	missense	probably damaging	1.00
R9787:Gli3	UTSW	13	15,900,386 (GRCm39)	missense	probably damaging	0.96
RF010:Gli3	UTSW	13	15,900,954 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16