Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03167:Glis1'

411692

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glis1

Ensembl Gene

ENSMUSG00000034762

Gene Name

GLIS family zinc finger 1

Synonyms

GliH1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03167

Quality Score

Status

Chromosome

Chromosomal Location

107434591-107635061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107435905 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 75 (D75G)

Ref Sequence

ENSEMBL: ENSMUSP00000118600 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000046005
AA Change: D75G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: D75G

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

noncoding transcript
Transcript: ENSMUST00000130573

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135835
AA Change: D75G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118600
Gene: ENSMUSG00000034762
AA Change: D75G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174982

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	C	6: 34,857,659	K921T	possibly damaging	Het
Agtpbp1	A	T	13: 59,532,080		probably benign	Het
Ankrd22	A	T	19: 34,165,774	M1K	probably null	Het
Ano5	G	A	7: 51,585,511	V698I	probably damaging	Het
Ccnh	A	G	13: 85,197,566		probably benign	Het
Col15a1	A	T	4: 47,282,635	I771F	probably damaging	Het
Dmrt1	T	C	19: 25,545,893	S203P	possibly damaging	Het
Exoc5	A	T	14: 49,051,345	V82E	probably damaging	Het
Ffar3	A	T	7: 30,855,355	V180E	probably damaging	Het
Fhad1	T	C	4: 141,972,797	S381G	probably benign	Het
Foxf1	C	A	8: 121,084,908	Y170*	probably null	Het
Gpr151	T	C	18: 42,578,374	H413R	probably benign	Het
Gtf3c1	T	C	7: 125,670,580		probably null	Het
Htt	T	A	5: 34,818,986	F711I	probably damaging	Het
Il1rapl1	A	G	X: 86,747,261	I691T	possibly damaging	Het
Iqgap2	T	C	13: 95,684,898	Y579C	probably benign	Het
Lingo3	A	G	10: 80,835,344	S251P	probably damaging	Het
Mbl1	T	A	14: 41,158,586	S144T	probably benign	Het
Musk	A	T	4: 58,366,821	R462W	possibly damaging	Het
Mynn	T	C	3: 30,609,042	L373P	probably damaging	Het
Myoz2	G	A	3: 123,006,490	R230*	probably null	Het
Nup35	A	G	2: 80,658,316		probably benign	Het
Olfr1032	T	A	2: 86,008,167	Y130*	probably null	Het
Olfr305	C	T	7: 86,363,920	C139Y	probably damaging	Het
Olfr710	A	G	7: 106,944,645	S119P	probably damaging	Het
Olfr987	C	T	2: 85,331,320	D193N	probably benign	Het
Pira2	A	T	7: 3,840,920	S618T	probably damaging	Het
Plch1	G	A	3: 63,722,744		probably benign	Het
Pparg	T	G	6: 115,473,227	F396V	probably damaging	Het
Scaper	T	C	9: 55,859,824	E441G	probably damaging	Het
Serpinb2	T	A	1: 107,522,755	C161S	probably benign	Het
Skint5	C	T	4: 113,893,850	E333K	unknown	Het
Slc22a8	C	T	19: 8,609,958	P461S	probably damaging	Het
Slc38a6	C	T	12: 73,350,537	Q318*	probably null	Het
Sycp2	T	C	2: 178,379,498	K512E	probably damaging	Het
Tas2r103	T	A	6: 133,036,660	N148Y	probably damaging	Het
Tcf7l1	A	G	6: 72,632,996	M257T	possibly damaging	Het
Tert	T	A	13: 73,640,000	N792K	probably damaging	Het
Thada	A	T	17: 84,458,849	V43E	probably damaging	Het
Trabd2b	T	C	4: 114,609,998	S475P	probably benign	Het
Vmn2r117	A	G	17: 23,477,707	V242A	probably damaging	Het
Ypel3	A	T	7: 126,780,075	I107F	probably damaging	Het
Zfp352	T	C	4: 90,224,702	S360P	probably damaging	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
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	unclassified	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
R7960:Glis1	UTSW	4	107634703	missense	probably damaging	1.00

Posted On

2016-08-02