Mutagenetix > Incidental Mutations

Incidental Mutation 'R5241:Glis3'

400876

Institutional Source

Beutler Lab

Gene Symbol

Glis3

Ensembl Gene

ENSMUSG00000052942

Gene Name

GLIS family zinc finger 3

Synonyms

E330013K21Rik, 4833409N03Rik

MMRRC Submission

042812-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R5241 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28258851-28680077 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 28350023 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 663 (T663K)

Ref Sequence

ENSEMBL: ENSMUSP00000108231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065113] [ENSMUST00000112612] [ENSMUST00000162022]

Predicted Effect

probably benign
Transcript: ENSMUST00000065113

SMART Domains

Protein: ENSMUSP00000066953
Gene: ENSMUSG00000052942

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112612
AA Change: T663K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000108231
Gene: ENSMUSG00000052942
AA Change: T663K

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC
low complexity region	203	222	N/A	INTRINSIC
low complexity region	438	476	N/A	INTRINSIC
ZnF_C2H2	500	525	1.07e0	SMART
ZnF_C2H2	534	561	6.13e-1	SMART
ZnF_C2H2	567	591	3.89e-3	SMART
ZnF_C2H2	597	621	1.45e-2	SMART
ZnF_C2H2	627	651	9.08e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161026

Predicted Effect

probably benign
Transcript: ENSMUST00000162022

SMART Domains

Protein: ENSMUSP00000124635
Gene: ENSMUSG00000052942

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC
low complexity region	203	222	N/A	INTRINSIC
low complexity region	438	476	N/A	INTRINSIC
ZnF_C2H2	500	525	1.07e0	SMART
ZnF_C2H2	534	561	6.13e-1	SMART
ZnF_C2H2	567	591	3.89e-3	SMART
ZnF_C2H2	597	621	1.45e-2	SMART
ZnF_C2H2	627	651	9.08e-4	SMART
low complexity region	700	709	N/A	INTRINSIC
low complexity region	722	746	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein which contains multiple C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the transcriptional regulation of insulin. It is thought to enhance GLI-RE-dependent transcription by binding to the GLI-RE consensus sequence (GACCACCCAC). Mutations in a similar gene in human have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit postnatal lethality associated with neonatal diabetes and polycystic kidney disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930033H14Rik	A	G	10: 69,212,751		probably null	Het
Adgrb3	T	C	1: 25,111,790	T881A	possibly damaging	Het
Adgrv1	A	T	13: 81,488,929	C3464*	probably null	Het
Afp	A	G	5: 90,501,614	M347V	probably benign	Het
Apc2	A	G	10: 80,312,234	T1041A	probably benign	Het
Atl1	T	C	12: 69,959,113	S398P	possibly damaging	Het
Atp8b4	G	A	2: 126,383,726	P528L	probably benign	Het
Bahcc1	C	A	11: 120,271,403	P176T	probably damaging	Het
Bsnd	A	G	4: 106,487,985	V88A	probably benign	Het
Dnah7c	T	A	1: 46,530,500	F687Y	probably benign	Het
Dok6	T	C	18: 89,598,789	I23M	possibly damaging	Het
Fcgbp	A	T	7: 28,085,199	D228V	probably damaging	Het
Gatad2a	G	A	8: 69,918,017	Q107*	probably null	Het
Gm10784	T	A	13: 49,945,093		noncoding transcript	Het
Gsdmc2	C	T	15: 63,824,894	R476H	probably benign	Het
Gsdmc3	A	G	15: 63,864,146	S202P	possibly damaging	Het
Map3k8	T	C	18: 4,340,750	E188G	probably damaging	Het
Mccc1	T	A	3: 35,974,196	Q487L	probably benign	Het
Msantd1	A	G	5: 34,921,469	D116G	probably damaging	Het
Myh1	T	A	11: 67,204,449	S212T	probably benign	Het
Nr1h4	A	G	10: 89,483,489	Y158H	probably damaging	Het
Olfr1180	T	C	2: 88,412,098	T187A	possibly damaging	Het
Olfr421-ps1	T	A	1: 174,152,101	I195N	probably benign	Het
Olfr585	T	C	7: 103,098,317	V192A	probably benign	Het
Pcnt	A	T	10: 76,433,617	H272Q	probably benign	Het
Pdia5	T	C	16: 35,429,775	N242S	probably benign	Het
Pkd1l2	A	T	8: 117,035,118	D1441E	probably damaging	Het
Runx2	G	T	17: 44,639,777	Y203*	probably null	Het
Sdr9c7	T	G	10: 127,909,790	I257S	probably benign	Het
Slitrk1	A	G	14: 108,913,012	M89T	probably benign	Het
St14	G	T	9: 31,100,418	C397*	probably null	Het
Tas2r123	T	C	6: 132,847,218	I26T	probably benign	Het
Tmem144	A	T	3: 79,814,124	M329K	probably benign	Het
Tmem252	T	C	19: 24,674,127	M20T	probably benign	Het
Umodl1	T	C	17: 30,984,092	V473A	probably benign	Het
Wdr70	A	G	15: 8,079,216	C149R	probably benign	Het
Xirp2	C	T	2: 67,482,360	R58*	probably null	Het
Zer1	A	C	2: 30,104,970	L471R	probably damaging	Het
Zfp101	C	T	17: 33,382,236	C182Y	probably benign	Het

Other mutations in Glis3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Glis3	APN	19	28540264	missense	probably damaging	1.00
IGL02240:Glis3	APN	19	28531525	missense	probably damaging	1.00
IGL02347:Glis3	APN	19	28531883	missense	probably benign
IGL02904:Glis3	APN	19	28357952	missense	possibly damaging	0.58
glee	UTSW	19	28262677	utr 3 prime	probably benign
R0071:Glis3	UTSW	19	28263855	splice site	probably benign
R0071:Glis3	UTSW	19	28263855	splice site	probably benign
R0106:Glis3	UTSW	19	28531868	missense	possibly damaging	0.67
R0106:Glis3	UTSW	19	28531868	missense	possibly damaging	0.67
R0399:Glis3	UTSW	19	28298768	splice site	probably benign
R1462:Glis3	UTSW	19	28262518	utr 3 prime	probably benign
R1901:Glis3	UTSW	19	28531585	missense	probably damaging	1.00
R1976:Glis3	UTSW	19	28262677	utr 3 prime	probably benign
R1982:Glis3	UTSW	19	28531274	missense	probably damaging	1.00
R2155:Glis3	UTSW	19	28531302	missense	probably benign	0.16
R3723:Glis3	UTSW	19	28262591	nonsense	probably null
R4496:Glis3	UTSW	19	28666127	missense	possibly damaging	0.90
R4921:Glis3	UTSW	19	28666104	missense	probably damaging	1.00
R5088:Glis3	UTSW	19	28531579	missense	probably benign	0.00
R5557:Glis3	UTSW	19	28264009	missense	probably benign	0.00
R6226:Glis3	UTSW	19	28317302	missense	probably damaging	1.00
R6309:Glis3	UTSW	19	28317361	missense	probably benign	0.24
R6488:Glis3	UTSW	19	28298853	missense	probably benign	0.13
R7069:Glis3	UTSW	19	28531519	missense	probably damaging	1.00
R7260:Glis3	UTSW	19	28531402	missense	probably benign
R7313:Glis3	UTSW	19	28531019	missense	probably damaging	1.00
R7320:Glis3	UTSW	19	28531598	missense	probably damaging	1.00
R7767:Glis3	UTSW	19	28263960	missense	probably benign	0.18
R7839:Glis3	UTSW	19	28317373	missense	possibly damaging	0.81
R8133:Glis3	UTSW	19	28350006	missense	probably benign	0.00
T0970:Glis3	UTSW	19	28530932	missense	probably damaging	1.00
Z1176:Glis3	UTSW	19	28283768	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CACTACTGTTCGTCGAACGC -3'
(R):5'- AAGTCCTCTCCAAATTCCACAGTTC -3'

Sequencing Primer
(F):5'- GTCGAACGCTTTTCTTTCAAGAG -3'
(R):5'- CCAAATTCCACAGTTCCTTGTC -3'

Posted On

2016-07-06