Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Gli1'

276737

Institutional Source

Beutler Lab

Gene Symbol

Gli1

Ensembl Gene

ENSMUSG00000025407

Gene Name

GLI-Kruppel family member GLI1

Synonyms

Zfp-5, Zfp5

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127329882-127341974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127330219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1055 (V1055E)

Ref Sequence

ENSEMBL: ENSMUSP00000026474 (fasta)

Gene Model

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

AlphaFold

P47806

Predicted Effect

probably damaging
Transcript: ENSMUST00000026474
AA Change: V1055E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407
AA Change: V1055E

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,121,475	G26*	probably null	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061	I407T	probably benign	Het
Adam8	T	C	7: 139,987,607	N408D	probably damaging	Het
Adgre1	A	T	17: 57,401,925	T39S	probably benign	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Arid1b	T	A	17: 5,336,515		probably null	Het
Atp2c2	A	G	8: 119,735,296	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,991,254	V144I	probably benign	Het
C530008M17Rik	A	G	5: 76,840,892	D30G	probably damaging	Het
Camk4	A	G	18: 33,158,854	E189G	possibly damaging	Het
Casz1	A	G	4: 148,939,589		probably benign	Het
Ccdc134	T	C	15: 82,131,442	V41A	possibly damaging	Het
Chrd	A	T	16: 20,738,910	T753S	probably damaging	Het
Cyb561a3	T	C	19: 10,585,371	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606	T69S	probably benign	Het
Dchs1	A	G	7: 105,761,635	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,749,347	S818P	probably benign	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Dnaic2	G	T	11: 114,732,955	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,277,052	I526V	probably benign	Het
Far2	G	A	6: 148,150,591	E123K	probably benign	Het
Hand2	G	T	8: 57,321,976	A24S	probably benign	Het
Helb	T	C	10: 120,106,037	I249V	probably benign	Het
Hspa4l	G	A	3: 40,772,642	V492M	probably damaging	Het
Hspg2	T	C	4: 137,539,349	I1916T	probably damaging	Het
Igfals	G	A	17: 24,881,605	V557I	possibly damaging	Het
Itpa	T	G	2: 130,681,010	S176A	probably damaging	Het
Kcnu1	T	A	8: 25,885,317	L353H	probably damaging	Het
Klhl1	A	G	14: 96,518,179	F47L	probably benign	Het
Klhl13	T	C	X: 23,285,176	D21G	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Krt9	C	T	11: 100,190,849	V285I	probably damaging	Het
Mansc1	T	C	6: 134,610,183	R344G	possibly damaging	Het
Mier2	G	T	10: 79,541,797	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,225,886		probably null	Het
Nedd4l	G	A	18: 65,167,535	A243T	probably benign	Het
Notch4	T	A	17: 34,578,069	C934*	probably null	Het
Nsmce3	C	T	7: 64,872,168	D251N	probably damaging	Het
Olfr101	T	A	17: 37,299,979	T148S	probably benign	Het
Olfr1156	T	A	2: 87,949,530	R234S	probably damaging	Het
Olfr1310	T	C	2: 112,008,323	T288A	possibly damaging	Het
Olfr139	A	G	11: 74,044,699	C192R	probably damaging	Het
Olfr517	C	T	7: 108,869,128	V9M	probably damaging	Het
Olfr937	A	G	9: 39,060,174	I164T	probably benign	Het
Pdzd7	T	C	19: 45,045,628	T6A	probably benign	Het
Picalm	T	A	7: 90,189,219	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,716,668	M1T	probably null	Het
Prl8a1	T	C	13: 27,575,458	K199E	possibly damaging	Het
Rims1	C	T	1: 22,428,489	R764H	probably damaging	Het
Rnf17	G	T	14: 56,475,413	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,998,137	L294P	probably damaging	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,336,849	T491K	probably benign	Het
Slc35b3	T	C	13: 38,943,068	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,181,655	F429L	probably benign	Het
Sulf1	T	C	1: 12,817,412	I270T	probably damaging	Het
Tmem51	T	C	4: 142,031,748	T230A	probably damaging	Het
Tnc	T	A	4: 64,008,710	I860F	probably damaging	Het
Trh	A	T	6: 92,243,698	V61E	possibly damaging	Het
Ttn	T	G	2: 76,754,099	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,361,512	K652*	probably null	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,524,954	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,719,611	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,479,987	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,744,953	A332T	probably benign	Het
Zfp568	T	A	7: 30,023,396	C589S	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
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
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
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'- TTAGGCACTAGAGTTGAGGAATTG -3'
(R):5'- TCACCGTGGGAGTAAACAGG -3'

Sequencing Primer
(F):5'- AATTGTGTCTCTCCAGGCAGAGAC -3'
(R):5'- TGGGAGTAAACAGGCCTTCC -3'

Posted On

2015-04-06