Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02450:Glis1'

294121

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02450

Quality Score

Status

Chromosome

Chromosomal Location

107434591-107635061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107627529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 407 (V407A)

Ref Sequence

ENSEMBL: ENSMUSP00000102349 (fasta)

Gene Model

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

AlphaFold

Q8K1M4

Predicted Effect

probably benign
Transcript: ENSMUST00000046005
AA Change: V595A

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: V595A

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: V407A

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: V407A

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: ENSMUST00000125573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138211

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	A	G	15: 81,914,762	*781W	probably null	Het
Adamts16	C	A	13: 70,836,300	R81S	probably damaging	Het
Aldh1l1	A	G	6: 90,569,873	D386G	probably benign	Het
Anxa6	G	A	11: 54,994,941	R393W	probably damaging	Het
Bdnf	G	A	2: 109,723,604	V108I	possibly damaging	Het
Bpgm	C	T	6: 34,487,464	R39W	probably damaging	Het
Cd101	T	C	3: 100,993,738	E1006G	probably damaging	Het
Cd109	A	T	9: 78,695,850	E972V	possibly damaging	Het
Cdhr3	T	A	12: 33,082,225	Q133L	probably benign	Het
Cdk5r1	C	T	11: 80,477,840	A111V	probably benign	Het
Cnga4	A	T	7: 105,405,748	I77F	probably damaging	Het
Egfem1	G	A	3: 29,657,268		probably null	Het
Fam205c	A	G	4: 42,874,127	S14P	probably benign	Het
Fbxl21	T	A	13: 56,526,953	V39D	possibly damaging	Het
Gimap6	T	C	6: 48,704,417	I94M	probably benign	Het
Gm5784	C	T	12: 19,387,969		noncoding transcript	Het
Gm9839	A	T	1: 32,520,883		probably benign	Het
Heatr5a	T	A	12: 51,945,430	M566L	probably benign	Het
Jph1	G	A	1: 17,003,977	P606S	possibly damaging	Het
Jup	C	T	11: 100,378,357	C410Y	probably damaging	Het
Kif23	A	G	9: 61,923,957	M777T	probably benign	Het
Lifr	G	T	15: 7,190,765	D959Y	probably damaging	Het
Lsm1	C	A	8: 25,793,778	L73I	possibly damaging	Het
Maneal	G	A	4: 124,857,135	A276V	probably benign	Het
Myh4	A	G	11: 67,251,809	D932G	probably damaging	Het
Nipbl	C	T	15: 8,343,574	V1063M	probably damaging	Het
Nlrx1	A	G	9: 44,253,501	V882A	probably benign	Het
Obox6	A	G	7: 15,833,713	C270R	probably damaging	Het
Olfr525	A	G	7: 140,323,227	H176R	possibly damaging	Het
Pard3b	A	G	1: 62,532,676	I925V	possibly damaging	Het
Pdhx	A	G	2: 103,042,249	S163P	probably benign	Het
Pdzrn3	T	C	6: 101,354,500	D271G	probably damaging	Het
Plec	A	G	15: 76,191,315	I399T	probably damaging	Het
Pthlh	T	G	6: 147,257,168	D98A	possibly damaging	Het
Spock3	T	A	8: 63,245,215		probably null	Het
Tgtp2	C	T	11: 49,059,490	G85D	probably benign	Het
Tmem94	A	G	11: 115,793,071	D739G	probably damaging	Het
Washc5	G	A	15: 59,332,317	R706*	probably null	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	Het
Zscan20	G	T	4: 128,586,657	D680E	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
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
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

Posted On

2015-04-16