Mutagenetix > Incidental Mutation

Incidental Mutation 'R1879:Gli1'

211412

Institutional Source

Beutler Lab

Gene Symbol

Gli1

Ensembl Gene

ENSMUSG00000025407

Gene Name

GLI-Kruppel family member GLI1

Synonyms

Zfp-5, Zfp5

MMRRC Submission

039900-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1879 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127165751-127177448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127169606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 383 (R383H)

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: R383H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407
AA Change: R383H

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: ENSMUST00000218451

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: 97.3%
3x: 96.6%
10x: 94.9%
20x: 91.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,686,488 (GRCm39)	D268G	possibly damaging	Het
Abce1	T	C	8: 80,414,085 (GRCm39)	N542S	probably benign	Het
Abcf1	T	A	17: 36,272,704 (GRCm39)	E260D	probably benign	Het
Ahcy	A	G	2: 154,906,072 (GRCm39)		probably null	Het
Akap13	C	T	7: 75,260,475 (GRCm39)	A1033V	probably benign	Het
Alkbh6	A	G	7: 30,011,320 (GRCm39)	N46S	probably damaging	Het
Ankrd34c	A	C	9: 89,612,126 (GRCm39)	L72V	probably damaging	Het
Arf4	T	A	14: 26,368,076 (GRCm39)	N25K	probably damaging	Het
Arhgef4	A	G	1: 34,761,521 (GRCm39)	D259G	unknown	Het
Cavin1	C	A	11: 100,861,036 (GRCm39)	G86V	probably damaging	Het
Ces1d	G	A	8: 93,916,126 (GRCm39)	T167I	probably benign	Het
Cfb	T	C	17: 35,079,536 (GRCm39)	I754V	probably benign	Het
Clcnkb	C	T	4: 141,135,130 (GRCm39)	R536H	possibly damaging	Het
Clpb	T	G	7: 101,355,690 (GRCm39)	S181R	probably benign	Het
Col1a1	T	C	11: 94,842,051 (GRCm39)	M1366T	unknown	Het
Cped1	T	A	6: 22,085,014 (GRCm39)		probably null	Het
Crip1	G	A	12: 113,116,952 (GRCm39)	C82Y	probably damaging	Het
Csmd3	T	C	15: 47,520,915 (GRCm39)	T2810A	possibly damaging	Het
Cyp2b9	A	T	7: 25,897,994 (GRCm39)	D266V	probably damaging	Het
Cyp46a1	A	G	12: 108,319,385 (GRCm39)	D294G	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dst	A	G	1: 34,227,924 (GRCm39)	E1514G	probably benign	Het
Dync1h1	A	G	12: 110,591,070 (GRCm39)	E1046G	probably benign	Het
Eya2	T	C	2: 165,506,726 (GRCm39)	V4A	probably benign	Het
Frem3	A	T	8: 81,338,567 (GRCm39)	R287*	probably null	Het
Fuca2	T	A	10: 13,383,000 (GRCm39)	C323S	possibly damaging	Het
Ggt7	T	C	2: 155,356,707 (GRCm39)	E4G	possibly damaging	Het
Gm4559	C	A	7: 141,827,998 (GRCm39)	V35F	unknown	Het
Gpm6a	T	A	8: 55,490,365 (GRCm39)	C14S	probably damaging	Het
Hcn2	A	T	10: 79,562,023 (GRCm39)	I340F	probably benign	Het
Hdac9	T	A	12: 34,440,332 (GRCm39)	D349V	probably damaging	Het
Krt34	T	C	11: 99,929,118 (GRCm39)	D364G	possibly damaging	Het
Mon2	C	T	10: 122,838,790 (GRCm39)	R1565H	probably damaging	Het
Myb	T	A	10: 21,017,876 (GRCm39)	M482L	probably benign	Het
Nckap1l	A	T	15: 103,373,028 (GRCm39)	I294F	probably benign	Het
Nr2e1	A	G	10: 42,444,367 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or1r1	T	A	11: 73,875,368 (GRCm39)	D22V	probably benign	Het
Or4k38	A	T	2: 111,165,808 (GRCm39)	I205N	possibly damaging	Het
Or52h7	T	C	7: 104,214,118 (GRCm39)	V230A	possibly damaging	Het
Pde8b	A	T	13: 95,221,723 (GRCm39)	I308N	possibly damaging	Het
Pdzd2	T	C	15: 12,373,986 (GRCm39)	R2050G	possibly damaging	Het
Phc3	C	A	3: 30,968,607 (GRCm39)	S840I	probably damaging	Het
Piezo2	T	A	18: 63,247,031 (GRCm39)	Y327F	probably damaging	Het
Pnliprp1	A	T	19: 58,732,516 (GRCm39)	I460F	probably benign	Het
Pphln1	T	G	15: 93,321,927 (GRCm39)	D35E	probably damaging	Het
Prdm6	G	A	18: 53,701,289 (GRCm39)	V360I	probably damaging	Het
Rab35	T	A	5: 115,778,219 (GRCm39)	W62R	probably damaging	Het
Sct	G	T	7: 140,858,612 (GRCm39)	P70Q	probably damaging	Het
Sdf4	A	G	4: 156,094,304 (GRCm39)	N328S	probably damaging	Het
Senp5	A	T	16: 31,802,642 (GRCm39)	S488R	probably damaging	Het
Serpina3n	A	G	12: 104,375,213 (GRCm39)	E95G	probably benign	Het
Sfswap	C	T	5: 129,618,392 (GRCm39)	A442V	probably benign	Het
Sgcd	T	C	11: 47,246,068 (GRCm39)	I45V	probably benign	Het
Sgcg	T	C	14: 61,474,346 (GRCm39)		probably null	Het
Slc39a12	G	T	2: 14,448,868 (GRCm39)	V489L	probably benign	Het
Slc5a11	T	A	7: 122,838,671 (GRCm39)	I96N	possibly damaging	Het
Slc6a12	A	G	6: 121,324,382 (GRCm39)	D2G	probably damaging	Het
Slc8a1	T	C	17: 81,955,442 (GRCm39)	D532G	probably damaging	Het
Smarcd3	C	A	5: 24,798,019 (GRCm39)	C465F	probably damaging	Het
Smc1b	T	A	15: 84,976,268 (GRCm39)	Q813L	probably benign	Het
Spag1	G	A	15: 36,181,916 (GRCm39)	E25K	probably damaging	Het
Sptan1	A	T	2: 29,885,540 (GRCm39)	N715I	probably damaging	Het
Tas1r2	T	A	4: 139,397,006 (GRCm39)	Y782N	probably damaging	Het
Thap3	A	T	4: 152,067,593 (GRCm39)	C162S	probably benign	Het
Topaz1	T	A	9: 122,578,684 (GRCm39)	D531E	possibly damaging	Het
Vmn1r25	C	T	6: 57,955,912 (GRCm39)	A126T	possibly damaging	Het
Zfhx2	A	G	14: 55,303,074 (GRCm39)	F1637L	probably benign	Het
Zfhx2	T	C	14: 55,310,206 (GRCm39)	Y780C	possibly damaging	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	probably damaging	Het
Zfp956	A	T	6: 47,940,678 (GRCm39)	T346S	probably benign	Het
Zkscan1	C	T	5: 138,095,410 (GRCm39)	A219V	probably damaging	Het

Other mutations in Gli1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Gli1	APN	10	127,168,347 (GRCm39)	missense	probably damaging	1.00
IGL01824:Gli1	APN	10	127,172,396 (GRCm39)	missense	probably benign	0.44
IGL02134:Gli1	APN	10	127,172,369 (GRCm39)	missense	probably benign	0.00
IGL02508:Gli1	APN	10	127,172,961 (GRCm39)	missense	probably benign	0.14
IGL02931:Gli1	APN	10	127,168,279 (GRCm39)	missense	probably benign	0.00
R0099:Gli1	UTSW	10	127,171,875 (GRCm39)	missense	probably damaging	1.00
R0590:Gli1	UTSW	10	127,167,432 (GRCm39)	missense	possibly damaging	0.82
R0792:Gli1	UTSW	10	127,168,446 (GRCm39)	missense	probably damaging	0.99
R1169:Gli1	UTSW	10	127,174,320 (GRCm39)	missense	probably damaging	1.00
R1519:Gli1	UTSW	10	127,170,138 (GRCm39)	missense	possibly damaging	0.93
R1522:Gli1	UTSW	10	127,168,446 (GRCm39)	missense	probably damaging	0.99
R1550:Gli1	UTSW	10	127,174,385 (GRCm39)	missense	probably damaging	1.00
R1592:Gli1	UTSW	10	127,167,198 (GRCm39)	missense	probably damaging	0.97
R1892:Gli1	UTSW	10	127,165,975 (GRCm39)	missense	possibly damaging	0.82
R1934:Gli1	UTSW	10	127,167,108 (GRCm39)	missense	possibly damaging	0.65
R2049:Gli1	UTSW	10	127,172,596 (GRCm39)	missense	probably damaging	1.00
R2088:Gli1	UTSW	10	127,167,369 (GRCm39)	missense	probably damaging	1.00
R2141:Gli1	UTSW	10	127,172,596 (GRCm39)	missense	probably damaging	1.00
R3803:Gli1	UTSW	10	127,173,934 (GRCm39)	splice site	probably benign
R3873:Gli1	UTSW	10	127,167,225 (GRCm39)	missense	probably damaging	1.00
R3874:Gli1	UTSW	10	127,166,088 (GRCm39)	missense	probably damaging	1.00
R3899:Gli1	UTSW	10	127,172,535 (GRCm39)	missense	possibly damaging	0.64
R4703:Gli1	UTSW	10	127,166,724 (GRCm39)	missense	possibly damaging	0.88
R5552:Gli1	UTSW	10	127,166,131 (GRCm39)	missense	probably benign	0.00
R5686:Gli1	UTSW	10	127,173,305 (GRCm39)	missense	probably benign	0.01
R5812:Gli1	UTSW	10	127,173,284 (GRCm39)	missense	probably damaging	1.00
R6053:Gli1	UTSW	10	127,170,184 (GRCm39)	missense	probably damaging	1.00
R7088:Gli1	UTSW	10	127,171,868 (GRCm39)	missense	probably damaging	1.00
R7162:Gli1	UTSW	10	127,168,306 (GRCm39)	missense	probably benign
R8229:Gli1	UTSW	10	127,168,317 (GRCm39)	missense	possibly damaging	0.93
R8322:Gli1	UTSW	10	127,167,477 (GRCm39)	missense	probably damaging	1.00
R8447:Gli1	UTSW	10	127,166,106 (GRCm39)	missense	probably benign	0.00
R8678:Gli1	UTSW	10	127,173,260 (GRCm39)	missense	probably null	0.65
R9123:Gli1	UTSW	10	127,167,202 (GRCm39)	missense	possibly damaging	0.81
R9377:Gli1	UTSW	10	127,173,359 (GRCm39)	missense	possibly damaging	0.56
Z1177:Gli1	UTSW	10	127,172,560 (GRCm39)	missense	probably benign	0.00
Z1177:Gli1	UTSW	10	127,171,867 (GRCm39)	missense	probably damaging	1.00
Z1177:Gli1	UTSW	10	127,170,126 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGTCAGTAGAGCATGAGTGGG -3'
(R):5'- CAACTTCCTGGGATGCTGTG -3'

Sequencing Primer
(F):5'- ATAGAGGTTAGGCTTCCTAGGC -3'
(R):5'- GCTGTGCATCCCCCTCAC -3'

Posted On

2014-06-30