Mutagenetix > Incidental Mutation

Incidental Mutation 'R5807:Glis1'

448573

Institutional Source

Beutler Lab

Gene Symbol

Glis1

Ensembl Gene

ENSMUSG00000034762

Gene Name

GLIS family zinc finger 1

Synonyms

GliH1

MMRRC Submission

043393-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107434591-107635061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107568082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 109 (S109T)

Ref Sequence

ENSEMBL: ENSMUSP00000102349 (fasta)

Gene Model

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

AlphaFold

Q8K1M4

Predicted Effect

probably benign
Transcript: ENSMUST00000046005
AA Change: S297T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: S297T

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
AA Change: S109T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: S109T

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

SMART Domains

Protein: ENSMUSP00000118600
Gene: ENSMUSG00000034762

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (65/66)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,303,492	L943P	probably damaging	Het
Abcg5	C	A	17: 84,672,291	V214F	probably damaging	Het
Ang	T	A	14: 51,101,429		probably benign	Het
Arfgef3	A	G	10: 18,647,798		probably null	Het
Arhgef4	A	G	1: 34,807,615		probably benign	Het
Atp11b	T	C	3: 35,812,279	I409T	probably damaging	Het
Atp5b	G	A	10: 128,088,562		probably benign	Het
Atp9a	G	A	2: 168,653,534	A660V	probably damaging	Het
Avpr1a	A	G	10: 122,449,471	T223A	probably benign	Het
Bmp2k	T	C	5: 97,063,494	M507T	unknown	Het
Cep295	A	G	9: 15,332,532	S287P	probably damaging	Het
Chrna7	T	A	7: 63,148,601	D111V	probably damaging	Het
Cnr2	A	G	4: 135,917,436	D275G	probably benign	Het
Col28a1	T	A	6: 8,158,144	M305L	probably benign	Het
Cpb1	T	A	3: 20,263,742	D206V	probably damaging	Het
Cyp2c50	T	C	19: 40,113,500	L453S	probably damaging	Het
Ddx52	T	G	11: 83,949,682	S284A	probably benign	Het
Efcab1	A	T	16: 14,916,972	I69F	probably benign	Het
Eif2ak4	G	T	2: 118,388,851	R48L	probably benign	Het
Esrrb	A	G	12: 86,514,401	E303G	possibly damaging	Het
Fbxo21	A	G	5: 117,976,868	E23G	probably benign	Het
Fcamr	T	C	1: 130,811,526	S188P	probably damaging	Het
Fer1l6	C	A	15: 58,590,550	S818*	probably null	Het
Fn1	T	C	1: 71,648,059	D213G	probably damaging	Het
Gcg	A	G	2: 62,475,725	I176T	possibly damaging	Het
Gm266	T	C	12: 111,485,739	D11G	probably benign	Het
Gm5070	C	A	3: 95,410,654		noncoding transcript	Het
Gm8444	T	C	15: 81,843,453		probably benign	Het
Gm8989	T	A	7: 106,330,223		noncoding transcript	Het
Golga4	A	G	9: 118,527,130	T117A	probably damaging	Het
Gpr132	G	A	12: 112,852,796	R137C	probably damaging	Het
Herc2	T	A	7: 56,230,919	F4766L	probably damaging	Het
Inhbc	C	A	10: 127,357,542	E202*	probably null	Het
Kcnu1	C	T	8: 25,849,714	T20I	possibly damaging	Het
Klhdc3	T	C	17: 46,677,465	D161G	probably damaging	Het
Krt84	T	A	15: 101,530,212	K280M	probably damaging	Het
Krtap9-5	T	A	11: 99,949,069	C199S	unknown	Het
Mrgprb3	A	G	7: 48,643,362	V147A	probably benign	Het
Ndufs6	A	T	13: 73,327,434	F48L	probably damaging	Het
Obscn	T	C	11: 59,079,650	S2586G	probably damaging	Het
Olfr148	A	G	9: 39,614,463	R299G	probably benign	Het
Olfr156	C	A	4: 43,820,912	V150L	probably benign	Het
Olfr559	C	T	7: 102,724,202	R96H	possibly damaging	Het
Osbpl6	A	G	2: 76,584,513	D416G	probably damaging	Het
Pdilt	A	G	7: 119,500,543		probably benign	Het
Phf12	C	A	11: 78,022,426	D401E	probably benign	Het
Pla2r1	C	T	2: 60,428,721	V1108M	possibly damaging	Het
Prim2	A	G	1: 33,480,406		probably benign	Het
Ptpn6	T	C	6: 124,724,984	H406R	probably benign	Het
Qpctl	G	T	7: 19,143,207	H329N	probably damaging	Het
Ripk3	T	A	14: 55,785,298	N390Y	probably damaging	Het
Rnase1	A	G	14: 51,145,450	V149A	probably benign	Het
Rtn3	T	A	19: 7,456,827	D581V	probably damaging	Het
Slamf1	A	G	1: 171,775,062	Y119C	probably damaging	Het
Slc25a34	A	G	4: 141,623,662	M12T	probably benign	Het
Tmem38a	A	G	8: 72,580,100	Y141C	probably damaging	Het
Tnr	C	T	1: 159,886,930	T793I	possibly damaging	Het
Tns3	T	C	11: 8,493,211	D384G	probably damaging	Het
Vmn2r116	T	A	17: 23,387,307	Y398N	probably damaging	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	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
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
R8931:Glis1	UTSW	4	107563863	missense	probably benign	0.35
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'- GCTACCTTCTGGGCAATGAACC -3'
(R):5'- CGATGTGGCTCTTCTCGATG -3'

Sequencing Primer
(F):5'- TGAACCCATCTCAGACCTGGG -3'
(R):5'- GGCTCTTCTCGATGTGCCG -3'

Posted On

2016-12-15