Mutagenetix > Incidental Mutation

Incidental Mutation 'R9767:Glis1'

733326

Institutional Source

Beutler Lab

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 #

R9767 (G1)

Quality Score

205.009

Status

Not validated

Chromosome

Chromosomal Location

107434591-107635061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107634597 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 741 (T741S)

Ref Sequence

ENSEMBL: ENSMUSP00000035650 (fasta)

Gene Model

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

AlphaFold

Q8K1M4

Predicted Effect

probably benign
Transcript: ENSMUST00000046005
AA Change: T741S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: T741S

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: T553S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: T553S

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.4%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	T	3: 151,501,757	M314L	probably benign	Het
Ank3	T	C	10: 69,987,969	S41P	probably damaging	Het
Aox4	A	C	1: 58,235,198	N381T	probably benign	Het
Bnip3l	G	A	14: 67,008,765	P7L	possibly damaging	Het
Bpifb6	G	A	2: 153,909,228		probably null	Het
Cep350	A	G	1: 155,863,272	V2275A	probably benign	Het
Cntn4	G	A	6: 106,678,434	G831E	probably benign	Het
D6Ertd527e	G	C	6: 87,111,857	S334T	unknown	Het
Dchs2	A	G	3: 83,304,899	I2002V	probably benign	Het
Dennd2a	G	A	6: 39,506,775	R384C	probably damaging	Het
Dock1	A	G	7: 134,741,067	T136A	possibly damaging	Het
Eif2s2	A	T	2: 154,888,205	D57E	probably benign	Het
Eml2	C	T	7: 19,186,158	T129I	probably benign	Het
Flad1	A	C	3: 89,403,411	I443S	probably benign	Het
Gpr156	A	G	16: 37,997,935	Y331C	probably damaging	Het
Lrwd1	C	T	5: 136,134,002	V122M	possibly damaging	Het
Ndufs2	G	T	1: 171,241,074	P89Q	probably damaging	Het
Nkx1-2	C	T	7: 132,597,673	V120I	probably benign	Het
Olfr57	T	C	10: 79,034,931	L45P	possibly damaging	Het
Olfr721-ps1	C	T	14: 14,407,929	R234W	probably damaging	Het
Pcdhga3	T	A	18: 37,675,043	I183N	probably benign	Het
Pkhd1	T	C	1: 20,414,412	D1973G	probably benign	Het
Ppp1r3a	A	G	6: 14,718,102	S938P	probably benign	Het
Prss27	G	T	17: 24,038,309	M1I	probably null	Het
Rai14	T	C	15: 10,610,041	T74A	probably benign	Het
Rcc2	C	T	4: 140,708,020	R117W	probably damaging	Het
Rpl31	T	A	1: 39,371,108	*130R	probably null	Het
Rplp0	T	C	5: 115,561,504	S213P	probably benign	Het
Sdcbp2	T	C	2: 151,587,137	I152T	probably damaging	Het
Senp3	T	C	11: 69,678,187	T383A	possibly damaging	Het
Sod2	C	A	17: 13,008,293	Q45K	probably benign	Het
Speg	A	T	1: 75,427,181	I2669F	possibly damaging	Het
Stat4	T	G	1: 52,102,494	F577V	probably damaging	Het
Tex9	C	A	9: 72,461,236	E377*	probably null	Het
Tmprss15	A	T	16: 79,079,089	V119D	probably damaging	Het
Unc79	T	C	12: 103,112,975	S1800P	probably benign	Het
Vldlr	A	G	19: 27,234,874	D96G	probably damaging	Het
Vmn2r51	G	T	7: 10,105,480	N60K	probably benign	Het
Vps13b	A	G	15: 35,910,257	D3389G	probably damaging	Het
Vps13d	C	T	4: 145,152,736	E1506K		Het
Zfp1	A	G	8: 111,669,571	N75D	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AAGCCAGTCTGCCTGTCTTC -3'
(R):5'- TGTGATTTGAGAACCTTATGGAGAG -3'

Sequencing Primer
(F):5'- AGTCTGCCTGTCTTCCCAGC -3'
(R):5'- AGCCCTCCAGGTAGGGAAGTAC -3'

Posted On

2022-11-14