Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01824:Gli1'

154619

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gli1

Ensembl Gene

ENSMUSG00000025407

Gene Name

GLI-Kruppel family member GLI1

Synonyms

Zfp-5, Zfp5

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01824

Quality Score

Status

Chromosome

Chromosomal Location

127329882-127341974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127336527 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 219 (D219G)

Ref Sequence

ENSEMBL: ENSMUSP00000026474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026474] [ENSMUST00000218236] [ENSMUST00000219671]

Predicted Effect

probably benign
Transcript: ENSMUST00000026474
AA Change: D219G

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407
AA Change: D219G

Domain	Start	End	E-Value	Type
low complexity region	222	237	N/A	INTRINSIC
ZnF_C2H2	238	263	1.33e-1	SMART
ZnF_C2H2	271	298	5.72e-1	SMART
ZnF_C2H2	304	328	2.57e-3	SMART
ZnF_C2H2	334	359	1.92e-2	SMART
ZnF_C2H2	365	390	2.61e-4	SMART
low complexity region	419	431	N/A	INTRINSIC
low complexity region	540	562	N/A	INTRINSIC
low complexity region	639	655	N/A	INTRINSIC
low complexity region	748	759	N/A	INTRINSIC
low complexity region	850	873	N/A	INTRINSIC
low complexity region	941	962	N/A	INTRINSIC
low complexity region	985	1002	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219640

Predicted Effect

probably benign
Transcript: ENSMUST00000219671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219808

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 member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygotes for a targeted null mutation are apparently normal, but homozygotes that are also heterozygous for a Gli2 knockout die soon after birth with multiple defects, while Gli2 knockout heterozygotes are normally viable. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17c	G	A	7: 84,151,289	R186C	probably benign	Het
Ankar	A	G	1: 72,651,727	V1196A	probably benign	Het
Asah1	A	T	8: 41,349,543		probably benign	Het
Chrm1	T	C	19: 8,679,130	W400R	probably damaging	Het
Cyp27a1	G	T	1: 74,735,881	E290*	probably null	Het
Dnah7a	T	C	1: 53,504,270	D2247G	probably benign	Het
Gins4	G	A	8: 23,234,768	Q57*	probably null	Het
Greb1	A	T	12: 16,711,716	C554*	probably null	Het
Gtf2ird2	T	C	5: 134,197,282		probably benign	Het
Ifna15	T	C	4: 88,557,783	R155G	probably benign	Het
Lck	T	A	4: 129,558,146	M14L	probably benign	Het
Megf6	A	G	4: 154,252,234	D322G	probably damaging	Het
Olfr1272	T	A	2: 90,281,919	I219F	probably damaging	Het
Pcdh18	A	T	3: 49,754,774	D697E	probably damaging	Het
Pnp	C	T	14: 50,951,413	T221I	probably damaging	Het
Ppl	A	G	16: 5,087,889	I1514T	probably damaging	Het
Scnn1g	A	G	7: 121,766,293	M523V	probably benign	Het
Sema4c	A	G	1: 36,553,029	Y246H	possibly damaging	Het
Slco1a5	T	A	6: 142,253,037	I301F	probably benign	Het
Srebf1	A	G	11: 60,204,131	S446P	probably benign	Het
Sys1	T	G	2: 164,463,305	L56R	probably damaging	Het
Trpc7	G	T	13: 56,789,722	Y585*	probably null	Het
Vmn2r110	T	A	17: 20,574,667	Y580F	probably benign	Het
Zmym6	G	T	4: 127,108,706	V485F	probably damaging	Het

Other mutations in Gli1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Gli1	APN	10	127332478	missense	probably damaging	1.00
IGL02134:Gli1	APN	10	127336500	missense	probably benign	0.00
IGL02508:Gli1	APN	10	127337092	missense	probably benign	0.14
IGL02931:Gli1	APN	10	127332410	missense	probably benign	0.00
R0099:Gli1	UTSW	10	127336006	missense	probably damaging	1.00
R0590:Gli1	UTSW	10	127331563	missense	possibly damaging	0.82
R0792:Gli1	UTSW	10	127332577	missense	probably damaging	0.99
R1169:Gli1	UTSW	10	127338451	missense	probably damaging	1.00
R1519:Gli1	UTSW	10	127334269	missense	possibly damaging	0.93
R1522:Gli1	UTSW	10	127332577	missense	probably damaging	0.99
R1550:Gli1	UTSW	10	127338516	missense	probably damaging	1.00
R1592:Gli1	UTSW	10	127331329	missense	probably damaging	0.97
R1879:Gli1	UTSW	10	127333737	missense	probably damaging	1.00
R1892:Gli1	UTSW	10	127330106	missense	possibly damaging	0.82
R1934:Gli1	UTSW	10	127331239	missense	possibly damaging	0.65
R2049:Gli1	UTSW	10	127336727	missense	probably damaging	1.00
R2088:Gli1	UTSW	10	127331500	missense	probably damaging	1.00
R2141:Gli1	UTSW	10	127336727	missense	probably damaging	1.00
R3803:Gli1	UTSW	10	127338065	splice site	probably benign
R3873:Gli1	UTSW	10	127331356	missense	probably damaging	1.00
R3874:Gli1	UTSW	10	127330219	missense	probably damaging	1.00
R3899:Gli1	UTSW	10	127336666	missense	possibly damaging	0.64
R4703:Gli1	UTSW	10	127330855	missense	possibly damaging	0.88
R5552:Gli1	UTSW	10	127330262	missense	probably benign	0.00
R5686:Gli1	UTSW	10	127337436	missense	probably benign	0.01
R5812:Gli1	UTSW	10	127337415	missense	probably damaging	1.00
R6053:Gli1	UTSW	10	127334315	missense	probably damaging	1.00
R7088:Gli1	UTSW	10	127335999	missense	probably damaging	1.00
R7162:Gli1	UTSW	10	127332437	missense	probably benign
R8229:Gli1	UTSW	10	127332448	missense	possibly damaging	0.93
R8322:Gli1	UTSW	10	127331608	missense	probably damaging	1.00
Z1177:Gli1	UTSW	10	127334257	missense	probably damaging	1.00
Z1177:Gli1	UTSW	10	127335998	missense	probably damaging	1.00
Z1177:Gli1	UTSW	10	127336691	missense	probably benign	0.00

Posted On

2014-02-04