Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02508:Gli1'

296452

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02508

Quality Score

Status

Chromosome

Chromosomal Location

127165751-127177448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127172961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 155 (Q155R)

Ref Sequence

ENSEMBL: ENSMUSP00000026474 (fasta)

Gene Model

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

AlphaFold

P47806

Predicted Effect

probably benign
Transcript: ENSMUST00000026474
AA Change: Q155R

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407
AA Change: Q155R

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	T	A	3: 116,870,764 (GRCm39)		noncoding transcript	Het
Adgrv1	A	T	13: 81,583,675 (GRCm39)		probably benign	Het
AI429214	T	G	8: 37,461,240 (GRCm39)	D129E	probably benign	Het
Alx1	G	A	10: 102,858,054 (GRCm39)	T215M	probably damaging	Het
Arhgap39	A	G	15: 76,609,184 (GRCm39)	*1079Q	probably null	Het
Brca2	T	C	5: 150,466,773 (GRCm39)	V2179A	possibly damaging	Het
Cdcp3	A	G	7: 130,824,559 (GRCm39)	E91G	probably damaging	Het
Celsr1	G	A	15: 85,914,818 (GRCm39)	Q1052*	probably null	Het
Chd5	A	G	4: 152,447,481 (GRCm39)	E510G	probably damaging	Het
Cntnap2	A	G	6: 46,211,254 (GRCm39)	D556G	probably damaging	Het
Cux2	G	A	5: 121,998,885 (GRCm39)	P1352S	possibly damaging	Het
Cyp4a31	A	T	4: 115,428,261 (GRCm39)	Y319F	probably damaging	Het
Dcaf12	C	T	4: 41,296,310 (GRCm39)		probably null	Het
Dcc	C	A	18: 71,503,773 (GRCm39)	A942S	probably benign	Het
Dyrk1a	A	T	16: 94,486,042 (GRCm39)	D463V	probably damaging	Het
Eln	T	A	5: 134,733,422 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,761,803 (GRCm39)		probably null	Het
Fndc3b	T	C	3: 27,512,900 (GRCm39)	Y742C	probably damaging	Het
Furin	G	A	7: 80,042,269 (GRCm39)	T442I	probably benign	Het
Glra3	A	G	8: 56,538,179 (GRCm39)	E218G	probably benign	Het
Grb10	C	T	11: 11,896,767 (GRCm39)	V236M	probably damaging	Het
Grhl2	T	C	15: 37,310,009 (GRCm39)		probably benign	Het
Hgfac	A	T	5: 35,204,564 (GRCm39)	M579L	probably damaging	Het
Ifi202b	A	T	1: 173,802,338 (GRCm39)	D165E	probably benign	Het
Klhl26	A	T	8: 70,905,381 (GRCm39)	D95E	probably damaging	Het
Klk12	T	C	7: 43,419,113 (GRCm39)	V26A	probably benign	Het
Lrp2	C	T	2: 69,333,774 (GRCm39)	G1489D	probably benign	Het
Lrrtm1	A	T	6: 77,221,574 (GRCm39)	S344C	probably damaging	Het
Lzts1	G	A	8: 69,593,500 (GRCm39)	R36*	probably null	Het
Mapkap1	T	C	2: 34,408,681 (GRCm39)		probably benign	Het
Meis3	T	A	7: 15,912,722 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,217,267 (GRCm39)	C60S	probably damaging	Het
Nfkb1	T	A	3: 135,296,579 (GRCm39)	Y789F	probably damaging	Het
Nup54	G	A	5: 92,565,398 (GRCm39)	Q440*	probably null	Het
Ogdhl	T	G	14: 32,067,131 (GRCm39)	M861R	probably damaging	Het
Or13c7b	T	C	4: 43,821,289 (GRCm39)	E24G	possibly damaging	Het
Or4d10	G	T	19: 12,051,251 (GRCm39)	H248Q	possibly damaging	Het
Or4k42	C	T	2: 111,320,180 (GRCm39)	A108T	probably damaging	Het
Or52w1	A	T	7: 105,017,743 (GRCm39)	H61L	possibly damaging	Het
Or6c69b	A	G	10: 129,626,660 (GRCm39)	V266A	probably benign	Het
Pde6c	A	G	19: 38,145,948 (GRCm39)	K412R	probably benign	Het
Pex5l	T	C	3: 33,047,051 (GRCm39)		probably benign	Het
Pigr	A	T	1: 130,778,595 (GRCm39)	I760L	probably benign	Het
Pramel28	T	C	4: 143,691,590 (GRCm39)	N378D	probably benign	Het
Prr14l	G	A	5: 32,988,286 (GRCm39)	A403V	probably benign	Het
Prrt3	T	C	6: 113,471,268 (GRCm39)	D968G	probably damaging	Het
Psmc5	T	C	11: 106,153,869 (GRCm39)	I401T	possibly damaging	Het
Ralyl	T	A	3: 14,172,332 (GRCm39)		probably benign	Het
Samd9l	T	C	6: 3,374,798 (GRCm39)	E821G	probably damaging	Het
Serpinb3a	T	A	1: 106,973,802 (GRCm39)	I370F	probably damaging	Het
Setd1a	A	G	7: 127,396,870 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,951,615 (GRCm39)	F381L	probably benign	Het
Strada	A	G	11: 106,059,182 (GRCm39)	Y199H	probably benign	Het
Stxbp2	T	C	8: 3,682,531 (GRCm39)	I40T	probably damaging	Het
Tbx3	T	C	5: 119,816,877 (GRCm39)	V358A	possibly damaging	Het
Tenm3	A	G	8: 48,752,674 (GRCm39)	L896S	probably benign	Het
Tmem132a	A	G	19: 10,835,882 (GRCm39)	S883P	probably damaging	Het
Trio	A	G	15: 27,818,190 (GRCm39)	I496T	possibly damaging	Het
Unc79	C	T	12: 103,078,535 (GRCm39)	R1548W	probably damaging	Het
Unc79	T	C	12: 103,078,277 (GRCm39)		probably benign	Het
Vmn2r9	T	C	5: 108,996,067 (GRCm39)	M194V	possibly 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
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
R1879:Gli1	UTSW	10	127,169,606 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16