Mutagenetix > Incidental Mutation

Incidental Mutation 'R5686:Gli1'

443371

Institutional Source

Beutler Lab

Gene Symbol

Gli1

Ensembl Gene

ENSMUSG00000025407

Gene Name

GLI-Kruppel family member GLI1

Synonyms

Zfp-5, Zfp5

MMRRC Submission

043319-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127165751-127177448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127173305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 118 (T118S)

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: T118S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407
AA Change: T118S

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

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (73/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,451,433 (GRCm39)	E839G	possibly damaging	Het
Adgrf3	T	A	5: 30,402,304 (GRCm39)	T575S	probably damaging	Het
Akap9	T	A	5: 4,021,926 (GRCm39)	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,610,833 (GRCm39)	F926L	probably damaging	Het
BC035947	G	T	1: 78,474,567 (GRCm39)	T655K	probably benign	Het
Bcas1	T	C	2: 170,248,730 (GRCm39)	T64A	probably benign	Het
Bltp1	T	A	3: 36,971,809 (GRCm39)	F514Y	probably benign	Het
Brca2	A	G	5: 150,464,369 (GRCm39)	K1378E	probably benign	Het
Card6	A	T	15: 5,130,435 (GRCm39)	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,142,871 (GRCm39)	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,610,527 (GRCm39)	S212P	probably damaging	Het
Cdh8	T	C	8: 99,759,854 (GRCm39)	I632V	probably benign	Het
Col25a1	A	G	3: 130,357,803 (GRCm39)	E477G	probably damaging	Het
Cpne5	A	T	17: 29,402,991 (GRCm39)	C215S	possibly damaging	Het
Crim1	T	A	17: 78,681,512 (GRCm39)	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,582,838 (GRCm39)	N340K	probably benign	Het
Eif4e2	G	A	1: 87,153,960 (GRCm39)		probably null	Het
Ephb6	G	T	6: 41,596,638 (GRCm39)	R895L	possibly damaging	Het
Esrrg	T	A	1: 187,882,395 (GRCm39)	H217Q	probably benign	Het
Fgl1	T	A	8: 41,653,594 (GRCm39)	K100*	probably null	Het
Flt4	T	C	11: 49,521,430 (GRCm39)	V450A	probably benign	Het
G6pc2	A	T	2: 69,051,128 (GRCm39)	I74L	probably benign	Het
Gabrr1	T	C	4: 33,161,684 (GRCm39)	M336T	probably damaging	Het
Gm5435	A	T	12: 82,542,800 (GRCm39)		noncoding transcript	Het
Got1l1	A	G	8: 27,688,087 (GRCm39)	L314P	probably damaging	Het
Hk3	T	A	13: 55,154,626 (GRCm39)	I740F	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Igsf9b	A	G	9: 27,235,475 (GRCm39)	T508A	probably damaging	Het
Il16	T	A	7: 83,297,936 (GRCm39)	N431I	probably benign	Het
Lax1	G	A	1: 133,607,914 (GRCm39)	P276S	probably damaging	Het
Lrp2	A	T	2: 69,341,405 (GRCm39)	V925E	possibly damaging	Het
Lrp3	T	A	7: 34,902,910 (GRCm39)	T479S	possibly damaging	Het
Metrn	G	A	17: 26,014,191 (GRCm39)	R212C	probably damaging	Het
Mlip	A	C	9: 77,254,975 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,641,697 (GRCm39)	T175I	probably damaging	Het
N6amt1	A	T	16: 87,151,223 (GRCm39)	D28V	probably damaging	Het
Or1e21	A	T	11: 73,344,677 (GRCm39)	Y120*	probably null	Het
Or4f4b	G	A	2: 111,314,488 (GRCm39)	G238R	probably damaging	Het
Or5p52	A	G	7: 107,502,119 (GRCm39)	H65R	probably damaging	Het
Or5p66	G	T	7: 107,885,949 (GRCm39)	A128E	probably damaging	Het
Or6d15	T	C	6: 116,559,890 (GRCm39)	T6A	probably benign	Het
Or8b12i	T	A	9: 20,082,265 (GRCm39)	I201F	possibly damaging	Het
Pcdh17	T	A	14: 84,770,433 (GRCm39)	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,128,389 (GRCm39)	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,558,290 (GRCm39)	L323P	probably damaging	Het
Psg21	G	T	7: 18,386,183 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,573 (GRCm39)	V664A	probably benign	Het
Sco2	G	A	15: 89,256,175 (GRCm39)	R160*	probably null	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc5a10	A	T	11: 61,569,392 (GRCm39)	M329K	probably benign	Het
Slco1a5	G	A	6: 142,182,033 (GRCm39)	P564S	probably damaging	Het
Stk38	A	G	17: 29,201,103 (GRCm39)	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826 (GRCm39)	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 83,970,428 (GRCm39)	T441M	possibly damaging	Het
Tg	T	A	15: 66,560,738 (GRCm39)	N1033K	probably benign	Het
Thoc3	A	T	13: 54,615,686 (GRCm39)	I126N	probably damaging	Het
Tnc	T	C	4: 63,925,967 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,927,032 (GRCm39)	D831E	possibly damaging	Het
Uhmk1	A	T	1: 170,038,787 (GRCm39)	V100E	probably damaging	Het
Usp43	G	A	11: 67,812,742 (GRCm39)		probably benign	Het
Vmn2r90	A	T	17: 17,933,712 (GRCm39)	Y424F	probably benign	Het
Vps33a	C	T	5: 123,685,064 (GRCm39)		probably null	Het
Xirp2	A	T	2: 67,312,642 (GRCm39)	K37I	probably damaging	Het
Zfp106	A	T	2: 120,363,988 (GRCm39)		probably null	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	probably benign	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
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
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'- AAGAGGGTTCCAATGCGTTG -3'
(R):5'- GCAGGGATACAATGTACCTTTACA -3'

Sequencing Primer
(F):5'- CAATGCGTTGGGGGAGG -3'
(R):5'- CTCAGATTCTTTGAAGGAACGGC -3'

Posted On

2016-11-09