Mutagenetix > Incidental Mutations

Incidental Mutation 'R1892:Gli1'

211625

Institutional Source

Beutler Lab

Gene Symbol

Gli1

Ensembl Gene

ENSMUSG00000025407

Gene Name

GLI-Kruppel family member GLI1

Synonyms

Zfp-5, Zfp5

MMRRC Submission

039912-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1892 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127329882-127341974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127330106 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1093 (M1093V)

Ref Sequence

ENSEMBL: ENSMUSP00000026474 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026474
AA Change: M1093V

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407
AA Change: M1093V

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

noncoding transcript
Transcript: ENSMUST00000218656

Predicted Effect

probably benign
Transcript: ENSMUST00000219026

Predicted Effect

probably benign
Transcript: ENSMUST00000219511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219808

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 120,216,338	A270T	probably benign	Het
Abcb7	A	T	X: 104,342,536	H97Q	probably damaging	Het
Adat3	T	C	10: 80,606,415	L29P	probably damaging	Het
AI987944	A	T	7: 41,374,596	C320S	probably damaging	Het
Asic4	C	T	1: 75,469,482	R285W	probably damaging	Het
Asic5	A	T	3: 82,020,986	I419L	probably damaging	Het
Batf	A	G	12: 85,689,328	K42E	probably damaging	Het
Bcar3	A	G	3: 122,508,136	N160S	probably benign	Het
Bco2	C	A	9: 50,550,563	G47V	probably damaging	Het
Bicc1	T	G	10: 70,958,784	K181T	probably damaging	Het
Brinp2	A	G	1: 158,254,972		probably null	Het
Cacng8	A	G	7: 3,415,052	D240G	possibly damaging	Het
Calca	A	G	7: 114,633,727	Y96H	probably damaging	Het
Cdh1	A	T	8: 106,664,250	K666I	possibly damaging	Het
Cdh16	A	T	8: 104,617,999	I500N	possibly damaging	Het
Chst14	A	G	2: 118,927,349	Y208C	probably damaging	Het
Chst9	T	C	18: 15,452,960	H182R	probably damaging	Het
Clk2	A	G	3: 89,175,195	I367M	possibly damaging	Het
Cobl	G	C	11: 12,253,258	S1066W	probably damaging	Het
Ctcfl	A	G	2: 173,118,685	V35A	probably benign	Het
Dchs1	G	T	7: 105,764,156	H1151N	probably benign	Het
Dennd1c	T	C	17: 57,067,083	T529A	probably benign	Het
Dnah11	A	T	12: 118,106,474	V1532D	possibly damaging	Het
Dync1h1	A	G	12: 110,646,304	Y2871C	probably damaging	Het
Dytn	T	C	1: 63,677,261	E51G	probably benign	Het
Esd	C	T	14: 74,749,673	A266V	probably damaging	Het
Fam104a	G	T	11: 113,663,386	P161H	probably damaging	Het
Gm15446	A	G	5: 109,943,387	K502E	probably damaging	Het
Gm15448	A	C	7: 3,824,574	C195G	probably benign	Het
Gm4076	T	A	13: 85,127,328		noncoding transcript	Het
Gm9830	A	G	9: 44,464,528		noncoding transcript	Het
Gm9938	G	A	19: 23,724,591		probably benign	Het
Grhl1	G	A	12: 24,584,910	R245H	probably damaging	Het
Hnrnpul1	A	T	7: 25,726,766	D553E	probably benign	Het
Hpn	G	A	7: 31,099,043	Q415*	probably null	Het
Hsd11b1	T	G	1: 193,223,760	M175L	probably benign	Het
Htra1	G	A	7: 130,985,069	V461I	possibly damaging	Het
Il1rl2	A	G	1: 40,327,534	H76R	probably damaging	Het
Insrr	G	A	3: 87,813,877	V1112M	probably damaging	Het
Ints9	T	C	14: 65,020,423	S351P	probably benign	Het
Itgav	T	A	2: 83,771,336	N350K	probably damaging	Het
Kdm4d	C	A	9: 14,464,317	V82L	probably benign	Het
Klc1	T	C	12: 111,781,827		probably null	Het
Kmt5c	T	A	7: 4,742,715	C69*	probably null	Het
Lgals3	T	G	14: 47,384,707	N193K	possibly damaging	Het
Morc2b	T	A	17: 33,135,774	D1008V	probably damaging	Het
Mpg	C	T	11: 32,231,720	Q243*	probably null	Het
Muc15	C	T	2: 110,737,352	R281*	probably null	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 172,071,471		probably null	Het
Nek5	A	G	8: 22,107,729	M278T	probably benign	Het
Npas2	A	G	1: 39,345,422	T599A	probably benign	Het
Nrf1	A	G	6: 30,144,788	D519G	probably null	Het
Nup43	A	G	10: 7,673,609	H176R	probably damaging	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr218	T	C	1: 173,204,228	Y291H	probably damaging	Het
Olfr497	A	T	7: 108,422,940	Y123F	possibly damaging	Het
Olfr790	A	C	10: 129,501,033	I50L	probably benign	Het
Perm1	C	T	4: 156,217,883	R295C	probably benign	Het
Pik3ip1	G	T	11: 3,333,304	A135S	probably damaging	Het
Ppp4c	A	G	7: 126,786,280	V119A	probably damaging	Het
Prepl	A	G	17: 85,088,450	Y35H	possibly damaging	Het
Ptpn13	A	G	5: 103,501,679	Y316C	possibly damaging	Het
Pxk	C	T	14: 8,151,507	R441*	probably null	Het
Ranbp2	T	C	10: 58,464,099	V491A	probably benign	Het
Ranbp9	C	A	13: 43,416,457	C495F	possibly damaging	Het
Rfx8	A	T	1: 39,670,586		probably null	Het
Rnf111	T	A	9: 70,476,374	K92N	probably damaging	Het
Rtn1	A	G	12: 72,212,563	I772T	probably damaging	Het
Ryr2	T	A	13: 11,658,958	K72*	probably null	Het
Sergef	A	T	7: 46,614,616		probably null	Het
Sez6l	T	C	5: 112,472,799	N305S	probably damaging	Het
Slc40a1	A	T	1: 45,911,142	C383*	probably null	Het
Stab2	C	T	10: 86,938,049	C806Y	probably damaging	Het
Stard9	A	G	2: 120,693,708	T795A	probably benign	Het
Stk31	T	C	6: 49,438,474	I536T	probably damaging	Het
Stox1	T	A	10: 62,665,399	T461S	possibly damaging	Het
Suv39h2	T	C	2: 3,459,768	Y219C	probably damaging	Het
Tap1	T	G	17: 34,194,941	D643E	probably damaging	Het
Tbc1d2b	T	A	9: 90,218,943	I665F	probably damaging	Het
Tdrd6	T	C	17: 43,624,805	N1784S	probably benign	Het
Tmem14c	T	C	13: 41,021,157	F81L	possibly damaging	Het
Tnrc6c	A	G	11: 117,714,362	N108D	probably benign	Het
Tox3	A	T	8: 90,270,241	N131K	probably benign	Het
Tspear	T	A	10: 77,870,474	D359E	probably benign	Het
Ttc9	A	G	12: 81,631,777	I125V	probably benign	Het
Ttn	A	T	2: 76,898,187		probably benign	Het
Ubn2	C	T	6: 38,491,291	S980F	probably damaging	Het
Zfp362	T	A	4: 128,790,264	T30S	probably benign	Het
Zfp385c	A	C	11: 100,637,804	H32Q	probably damaging	Het
Zfp870	A	T	17: 32,883,889	H156Q	possibly damaging	Het
Zfp873	T	C	10: 82,061,246	C641R	probably damaging	Het
Zfp950	A	T	19: 61,119,111	H511Q	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
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
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
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'- CAGGTGATGCTTGTTCTCAGTATTC -3'
(R):5'- AGGTGTGTAACGCTCTGGAC -3'

Sequencing Primer
(F):5'- GTTCTCAGTATTCCTTTATTGTCAGG -3'
(R):5'- GGACTCTCTTGACCTGGACAAC -3'

Posted On

2014-06-30