Mutagenetix > Incidental Mutations

Incidental Mutation 'R3723:Glis3'

270652

Institutional Source

Beutler Lab

Gene Symbol

Glis3

Ensembl Gene

ENSMUSG00000052942

Gene Name

GLIS family zinc finger 3

Synonyms

E330013K21Rik, 4833409N03Rik

MMRRC Submission

040714-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R3723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28258851-28680077 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 28262591 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 97 (C97*)

Gene Model

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

noncoding transcript
Transcript: ENSMUST00000159520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159639

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162873

Predicted Effect

probably null
Transcript: ENSMUST00000172141
AA Change: C97*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

95% (38/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 9,016,853	V5167A	possibly damaging	Het
Ano5	A	G	7: 51,576,528	Y510C	probably damaging	Het
Api5	C	T	2: 94,425,613	R243Q	possibly damaging	Het
Apob	A	T	12: 8,006,327	Q1570L	probably damaging	Het
Apob	A	G	12: 8,011,763	N3415S	possibly damaging	Het
Arsk	T	A	13: 76,066,653	I361F	probably damaging	Het
C9	G	A	15: 6,483,080	E228K	possibly damaging	Het
Celsr2	A	G	3: 108,397,415		probably benign	Het
Cfap53	A	G	18: 74,359,569	I455V	probably benign	Het
Ckap4	A	G	10: 84,528,392	L269P	probably damaging	Het
Dnah7a	T	A	1: 53,447,346	D3352V	probably benign	Het
Dync2h1	A	T	9: 7,041,658	M3335K	probably benign	Het
Fam171a1	A	G	2: 3,220,375		probably benign	Het
Gm13101	T	C	4: 143,966,681	T76A	probably benign	Het
Gm14221	C	G	2: 160,568,427		noncoding transcript	Het
Gm8603	A	C	17: 13,516,813		probably null	Het
Gm9767	G	T	10: 26,078,571		probably benign	Het
Kctd16	A	G	18: 40,258,859	T167A	possibly damaging	Het
Kif18b	A	G	11: 102,916,276	F78L	probably damaging	Het
Mefv	A	G	16: 3,708,194		probably null	Het
Mipol1	C	A	12: 57,457,092	L349I	probably damaging	Het
Myo10	T	C	15: 25,803,288	V1527A	probably damaging	Het
Naip5	G	T	13: 100,223,014	Y571*	probably null	Het
Npl	A	G	1: 153,515,464	F182L	probably benign	Het
Pan3	T	A	5: 147,503,208		probably benign	Het
Pcdh15	A	T	10: 74,645,848	T342S	probably benign	Het
Pcdhga1	A	G	18: 37,662,992	T350A	possibly damaging	Het
Prdm4	A	G	10: 85,899,281	S666P	probably damaging	Het
Rere	A	G	4: 150,468,795	E148G	probably damaging	Het
Scube2	T	C	7: 109,808,406		probably benign	Het
Sptbn1	A	G	11: 30,137,335	S1035P	possibly damaging	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Supt3	A	G	17: 44,994,387	D108G	probably damaging	Het
Tnfsf13b	A	G	8: 10,031,545	I236V	possibly damaging	Het
Tns1	T	C	1: 73,924,940	S1511G	probably damaging	Het
Tpm1	G	A	9: 67,031,945		probably benign	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Vmn1r117	T	A	7: 20,883,455	I223F	probably damaging	Het
Vmn2r91	G	A	17: 18,085,278		probably null	Het
Zfp30	A	G	7: 29,793,353	E344G	probably damaging	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
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
R5241:Glis3	UTSW	19	28350023	missense	probably benign	0.02
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'- AAATACACGTACCCGGGATTG -3'
(R):5'- GCAGGAGTTTCTTTTCAAAGGG -3'

Sequencing Primer
(F):5'- CACGTACCCGGGATTGATTAAAAATG -3'
(R):5'- GGGAATTTAGAGTCTCACTTTAAGG -3'

Posted On

2015-03-18