Mutagenetix > Incidental Mutation

Incidental Mutation 'R0792:Gli1'

82464

Institutional Source

Beutler Lab

Gene Symbol

Gli1

Ensembl Gene

ENSMUSG00000025407

Gene Name

GLI-Kruppel family member GLI1

Synonyms

Zfp-5, Zfp5

MMRRC Submission

038972-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0792 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

127329882-127341974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127332577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 469 (M469K)

Ref Sequence

ENSEMBL: ENSMUSP00000026474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026474] [ENSMUST00000069548] [ENSMUST00000218236] [ENSMUST00000219026] [ENSMUST00000219511] [ENSMUST00000219671]

AlphaFold

P47806

Predicted Effect

probably damaging
Transcript: ENSMUST00000026474
AA Change: M469K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407
AA Change: M469K

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: ENSMUST00000069548

SMART Domains

Protein: ENSMUSP00000066455
Gene: ENSMUSG00000040345

Domain	Start	End	E-Value	Type
PH	60	175	8.19e-10	SMART
RhoGAP	276	469	1.94e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000218236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218656

Predicted Effect

probably benign
Transcript: ENSMUST00000219026

Predicted Effect

probably benign
Transcript: ENSMUST00000219511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219640

Predicted Effect

probably benign
Transcript: ENSMUST00000219671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219808

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 95.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	T	19: 45,933,868		probably null	Het
Acsl5	T	C	19: 55,280,492	V195A	probably benign	Het
Adgrb1	A	G	15: 74,580,617	M211V	probably damaging	Het
Ahnak	G	T	19: 9,016,734	M5127I	probably benign	Het
Akr1c13	T	C	13: 4,194,112	Y55H	probably damaging	Het
Ap3d1	A	T	10: 80,708,479	H1161Q	probably benign	Het
Atp2b2	C	T	6: 113,773,388	R625H	probably damaging	Het
Bdnf	G	A	2: 109,724,118	C239Y	probably damaging	Het
Bpifa5	G	T	2: 154,165,619		probably null	Het
C9	T	A	15: 6,486,762	F349I	probably damaging	Het
Ccdc180	T	C	4: 45,927,975	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,931,276	V1846A	probably benign	Het
Cep68	A	T	11: 20,240,652	L120H	possibly damaging	Het
Cntrl	T	A	2: 35,155,279	I781K	possibly damaging	Het
Cpne1	G	T	2: 156,077,419	Q343K	probably benign	Het
D3Ertd254e	A	G	3: 36,164,562	M244V	probably benign	Het
Dlc1	A	T	8: 36,938,548	I29K	probably benign	Het
Dnah9	T	C	11: 65,896,001	D3602G	possibly damaging	Het
Dock1	A	G	7: 134,874,150	S885G	probably benign	Het
Evpl	T	A	11: 116,227,723	Q686L	probably damaging	Het
Fmo6	C	T	1: 162,920,563	A311T	probably damaging	Het
Grin2c	G	A	11: 115,250,646	P882L	probably damaging	Het
H2-Ob	C	T	17: 34,242,614	T109I	probably damaging	Het
Jpt2	C	A	17: 24,948,673	A101S	probably benign	Het
Krt2	A	G	15: 101,816,497	V226A	probably damaging	Het
Lamc1	C	A	1: 153,234,580	Q1116H	possibly damaging	Het
Lamc1	T	G	1: 153,234,595	Q1111H	probably damaging	Het
Lamc1	T	C	1: 153,234,612	S1106G	probably benign	Het
Lrp1	G	T	10: 127,567,364	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,575,286	D1399E	probably benign	Het
Ltbp4	G	T	7: 27,325,060	P715Q	probably damaging	Het
Mtor	T	C	4: 148,462,910	V450A	probably benign	Het
Muc6	G	A	7: 141,639,559		probably benign	Het
Myom1	A	T	17: 71,121,136	I1450F	probably damaging	Het
Naip6	A	G	13: 100,283,766	I1332T	possibly damaging	Het
Ncstn	A	G	1: 172,071,505	V353A	possibly damaging	Het
Nt5c3	T	C	6: 56,886,749	T149A	probably benign	Het
Olfr203	A	T	16: 59,303,989	I280F	probably damaging	Het
Olfr510	A	G	7: 108,668,157	H247R	probably damaging	Het
Paip1	T	C	13: 119,430,318	S54P	possibly damaging	Het
Prdm14	G	T	1: 13,125,744	A31E	probably benign	Het
Prr14l	A	G	5: 32,828,423	S1243P	probably damaging	Het
Prss1	T	C	6: 41,458,944	M1T	probably null	Het
Raver2	T	A	4: 101,102,950	V209D	probably damaging	Het
Scube1	T	A	15: 83,628,076		probably null	Het
Serpina3c	T	A	12: 104,151,546	I178F	probably damaging	Het
Slc16a13	A	T	11: 70,220,631	V16E	probably damaging	Het
Slc30a6	T	C	17: 74,415,645	S236P	possibly damaging	Het
Sobp	A	C	10: 43,022,693	S299A	probably damaging	Het
Sorcs3	C	A	19: 48,706,009	T574K	possibly damaging	Het
Trak2	A	T	1: 58,903,661	M862K	probably benign	Het
Ubox5	A	T	2: 130,600,710	V19E	probably damaging	Het
Vmn1r173	A	G	7: 23,702,735	T132A	probably benign	Het
Zfp820	T	C	17: 21,819,528	D273G	probably benign	Het

Other mutations in Gli1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Gli1	APN	10	127332478	missense	probably damaging	1.00
IGL01824:Gli1	APN	10	127336527	missense	probably benign	0.44
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
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
R8447:Gli1	UTSW	10	127330237	missense	probably benign	0.00
R8678:Gli1	UTSW	10	127337391	missense	probably null	0.65
R9123:Gli1	UTSW	10	127331333	missense	possibly damaging	0.81
R9377:Gli1	UTSW	10	127337490	missense	possibly damaging	0.56
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

Predicted Primers

PCR Primer
(F):5'- AGTTTGAGACCCCGAGACCCTATG -3'
(R):5'- CTACGCAGAAATGGAGCCTCAGTC -3'

Sequencing Primer
(F):5'- CTATGGGCCGGAGCTGATG -3'
(R):5'- GCAGTCCTCTTGCAGCA -3'

Posted On

2013-11-08