Mutagenetix > Incidental Mutation

Incidental Mutation 'R8931:Glis1'

680297

Institutional Source

Beutler Lab

Gene Symbol

Glis1

Ensembl Gene

ENSMUSG00000034762

Gene Name

GLIS family zinc finger 1

Synonyms

GliH1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8931 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107434591-107635061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107563863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 92 (H92R)

Ref Sequence

ENSEMBL: ENSMUSP00000118600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046005] [ENSMUST00000106738] [ENSMUST00000135835]

AlphaFold

Q8K1M4

Predicted Effect

probably benign
Transcript: ENSMUST00000046005
AA Change: H92R

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: H92R

Domain	Start	End	E-Value	Type
low complexity region	50	62	N/A	INTRINSIC
low complexity region	118	129	N/A	INTRINSIC
low complexity region	242	255	N/A	INTRINSIC
low complexity region	274	288	N/A	INTRINSIC
low complexity region	334	357	N/A	INTRINSIC
ZnF_C2H2	366	391	3.99e0	SMART
ZnF_C2H2	400	427	4.12e0	SMART
ZnF_C2H2	433	457	7.78e-3	SMART
ZnF_C2H2	463	487	1.45e-2	SMART
ZnF_C2H2	493	517	5.59e-4	SMART
low complexity region	543	557	N/A	INTRINSIC
low complexity region	635	658	N/A	INTRINSIC
low complexity region	666	686	N/A	INTRINSIC
low complexity region	721	735	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106738

SMART Domains

Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762

Domain	Start	End	E-Value	Type
low complexity region	54	67	N/A	INTRINSIC
low complexity region	86	100	N/A	INTRINSIC
low complexity region	146	169	N/A	INTRINSIC
ZnF_C2H2	178	203	3.99e0	SMART
ZnF_C2H2	212	239	4.12e0	SMART
ZnF_C2H2	245	269	7.78e-3	SMART
ZnF_C2H2	275	299	1.45e-2	SMART
ZnF_C2H2	305	329	5.59e-4	SMART
low complexity region	355	369	N/A	INTRINSIC
low complexity region	447	470	N/A	INTRINSIC
low complexity region	478	498	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135835
AA Change: H92R

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118600
Gene: ENSMUSG00000034762
AA Change: H92R

Domain	Start	End	E-Value	Type
low complexity region	50	62	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mice do not exhibit any overt abnormalities, including behavior, kidney or tooth morphology, up to 6 months of age. [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
Acat3	G	C	17: 12,928,518	P204R	probably damaging	Het
Aldh3b1	A	G	19: 3,918,803	I250T	possibly damaging	Het
Ankrd11	C	T	8: 122,895,979	R378K	probably damaging	Het
Arap1	G	A	7: 101,408,117	R1355Q	possibly damaging	Het
Arhgef19	T	C	4: 141,249,292	V455A	probably damaging	Het
BC051019	T	C	7: 109,716,079	E323G	probably damaging	Het
BC051142	T	C	17: 34,440,354		probably benign	Het
Bzw2	T	C	12: 36,134,944	N2S	possibly damaging	Het
Calm3	G	C	7: 16,917,473	F66L	probably damaging	Het
Carmil1	T	A	13: 24,154,721	T191S	probably benign	Het
Cbwd1	T	G	19: 24,955,416	K84N	probably damaging	Het
Cep170	A	T	1: 176,769,811	C389S	probably benign	Het
Clhc1	C	T	11: 29,560,533	Q195*	probably null	Het
Cttnbp2	A	G	6: 18,434,809	L350P	probably benign	Het
Cyp7a1	T	C	4: 6,271,238	E306G	possibly damaging	Het
Ddx25	T	C	9: 35,554,568	N119S	possibly damaging	Het
Ephx2	G	T	14: 66,084,992		probably benign	Het
Ern2	C	T	7: 122,170,140	A888T	probably benign	Het
Fbln2	A	T	6: 91,269,090	I973F	probably damaging	Het
Fbn1	T	C	2: 125,360,175	I1259M	probably damaging	Het
Gm13283	A	C	4: 88,761,279	D169A	probably benign	Het
Gm14085	C	A	2: 122,518,502	P303Q		Het
Gm8882	G	A	6: 132,361,934	P107L		Het
Gpr61	A	G	3: 108,150,154	L397P	probably benign	Het
Hip1	A	T	5: 135,431,443		probably benign	Het
Hist1h4j	T	A	13: 21,735,199	I35N	probably damaging	Het
Hmgcs2	C	T	3: 98,296,241	A222V	probably damaging	Het
Ifna2	G	A	4: 88,683,475	T102I	probably benign	Het
Kat6b	T	C	14: 21,624,927	S387P	probably damaging	Het
Ldlr	G	A	9: 21,731,812	V45M	probably damaging	Het
Mc3r	A	T	2: 172,249,595	I246F	possibly damaging	Het
Mug1	G	C	6: 121,884,337	A1306P	probably benign	Het
Myo15	A	G	11: 60,477,194	E260G	probably benign	Het
Naa16	A	G	14: 79,344,955	Y565H	probably damaging	Het
Ndufaf7	A	G	17: 78,937,521	Y23C	possibly damaging	Het
Nop58	G	A	1: 59,692,390		probably null	Het
Olfr794	A	T	10: 129,570,681	T9S	probably benign	Het
Olfr820	A	T	10: 130,017,900	T180S	possibly damaging	Het
Olfr832	T	A	9: 18,944,624		probably benign	Het
Pcdh8	G	A	14: 79,769,531	Q531*	probably null	Het
Pik3c2g	A	G	6: 139,875,367	T297A	probably benign	Het
Poc1b	T	C	10: 99,192,999		probably null	Het
Prokr2	A	G	2: 132,374,076	V155A	possibly damaging	Het
Rce1	C	T	19: 4,624,066		probably benign	Het
Rnf148	A	T	6: 23,654,705	N97K	possibly damaging	Het
Setbp1	A	G	18: 78,856,508	S1315P	probably benign	Het
Sgcz	A	G	8: 37,639,986	V124A	probably damaging	Het
Slc25a2	C	A	18: 37,638,036	G147C	probably damaging	Het
Sod2	T	C	17: 13,008,306	L49P	probably damaging	Het
Tbc1d12	T	C	19: 38,865,654	V260A	probably benign	Het
Tcte2	C	A	17: 13,713,148		probably benign	Het
Tenm3	T	C	8: 48,235,602	T2317A	probably damaging	Het
Tfcp2	T	C	15: 100,504,417	I500V	possibly damaging	Het
Tmem2	T	A	19: 21,792,959	S104T	probably benign	Het
Trav14-3	C	A	14: 53,763,655	Q108K	probably damaging	Het
Trbv14	T	C	6: 41,135,430	Y54H	probably damaging	Het
Trpm3	T	A	19: 22,766,670	V337E	probably damaging	Het
Uox	A	T	3: 146,612,292	I14F	probably damaging	Het
Wdfy3	A	G	5: 101,917,555	V1249A	probably benign	Het
Zfp511	T	C	7: 140,037,281	Y97H	probably damaging	Het
Zfp536	G	T	7: 37,569,296	Q232K	probably benign	Het

Other mutations in Glis1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02157:Glis1	APN	4	107627561	missense	probably benign	0.01
IGL02450:Glis1	APN	4	107627529	missense	probably benign	0.25
IGL03167:Glis1	APN	4	107435905	missense	possibly damaging	0.90
IGL03189:Glis1	APN	4	107615051	missense	probably damaging	1.00
IGL03377:Glis1	APN	4	107632281	missense	probably damaging	0.98
glenys	UTSW	4	107627543	missense	possibly damaging	0.91
R0551:Glis1	UTSW	4	107568119	splice site	probably null
R0981:Glis1	UTSW	4	107615042	missense	probably damaging	1.00
R1036:Glis1	UTSW	4	107632264	missense	probably benign	0.05
R1527:Glis1	UTSW	4	107567926	missense	probably damaging	0.96
R1741:Glis1	UTSW	4	107568347	missense	probably damaging	1.00
R2937:Glis1	UTSW	4	107632291	missense	possibly damaging	0.89
R2938:Glis1	UTSW	4	107632291	missense	possibly damaging	0.89
R4223:Glis1	UTSW	4	107567845	missense	probably benign	0.01
R4412:Glis1	UTSW	4	107634718	missense	probably damaging	0.99
R4587:Glis1	UTSW	4	107627543	missense	possibly damaging	0.91
R4685:Glis1	UTSW	4	107567645	missense	probably benign	0.00
R4900:Glis1	UTSW	4	107619564	missense	probably damaging	1.00
R5138:Glis1	UTSW	4	107623105	frame shift	probably null
R5167:Glis1	UTSW	4	107634694	missense	probably damaging	1.00
R5511:Glis1	UTSW	4	107435877	missense	probably damaging	0.99
R5568:Glis1	UTSW	4	107619635	missense	probably damaging	0.99
R5807:Glis1	UTSW	4	107568082	missense	probably benign	0.00
R6006:Glis1	UTSW	4	107567906	missense	probably damaging	1.00
R6180:Glis1	UTSW	4	107627513	missense	probably benign	0.06
R6219:Glis1	UTSW	4	107631905	missense	probably benign	0.27
R6856:Glis1	UTSW	4	107435879	missense	probably damaging	0.96
R7278:Glis1	UTSW	4	107435683	start codon destroyed	probably null	0.53
R7877:Glis1	UTSW	4	107634703	missense	probably damaging	1.00
R7937:Glis1	UTSW	4	107627526	missense	possibly damaging	0.68
R7940:Glis1	UTSW	4	107632374	missense	probably damaging	1.00
R7940:Glis1	UTSW	4	107632375	missense	probably damaging	0.99
R7954:Glis1	UTSW	4	107619657	missense	possibly damaging	0.82
R8078:Glis1	UTSW	4	107567902	missense	probably damaging	1.00
R9227:Glis1	UTSW	4	107568130	missense	probably benign	0.45
R9230:Glis1	UTSW	4	107568130	missense	probably benign	0.45
R9767:Glis1	UTSW	4	107634597	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCACAATCAAGTGGTCCTGCC -3'
(R):5'- CTGTGTAACAAACAGACTCGGAC -3'

Sequencing Primer
(F):5'- CCAGGTGGTTTTGGGAGTTAAATAC -3'
(R):5'- TCTTGTGTCCAAGCAGACCAG -3'

Posted On

2021-08-31