Mutagenetix > Incidental Mutation

Incidental Mutation 'R7940:Glis1'

648992

Institutional Source

Beutler Lab

Gene Symbol

Glis1

Ensembl Gene

ENSMUSG00000034762

Gene Name

GLIS family zinc finger 1

Synonyms

GliH1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107434591-107635061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107632375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 720 (N720Y)

Ref Sequence

ENSEMBL: ENSMUSP00000035650 (fasta)

Gene Model

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

AlphaFold

Q8K1M4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046005
AA Change: N720Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: N720Y

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 damaging
Transcript: ENSMUST00000106738
AA Change: N532Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: N532Y

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 131,351,038	M238T	probably benign	Het
Acacb	C	T	5: 114,166,047	S177F	possibly damaging	Het
Afap1l2	A	G	19: 56,914,165	V822A	probably damaging	Het
Akap2	A	G	4: 57,883,026	K790E	probably damaging	Het
Alpk3	C	T	7: 81,093,945	P1170L	probably damaging	Het
Aox3	A	G	1: 58,188,437	I1234V	probably damaging	Het
Ascc1	G	A	10: 60,012,559	V103M	probably null	Het
Brca2	C	G	5: 150,538,733	T654S	probably benign	Het
Cblb	T	C	16: 52,152,536	F410S	probably damaging	Het
Cep95	T	A	11: 106,796,148	N94K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cpe	T	A	8: 64,594,911	S440C	probably damaging	Het
Cspg4	C	T	9: 56,888,097	Q1039*	probably null	Het
Cul5	A	T	9: 53,623,769	S612T	probably benign	Het
Dapl1	T	C	2: 59,484,768		probably null	Het
Deptor	C	T	15: 55,208,848	T241M	probably benign	Het
Dnaaf1	A	G	8: 119,582,715	T181A	possibly damaging	Het
Dnajc11	G	T	4: 151,968,588	Q156H	probably benign	Het
Dst	T	C	1: 34,167,676	V975A	possibly damaging	Het
Elf3	T	A	1: 135,257,128	S107C	probably damaging	Het
Enpp2	T	A	15: 54,906,928	D105V	probably damaging	Het
Fam122a	G	A	19: 24,477,188	R57W	probably benign	Het
Fgd6	G	A	10: 94,120,482	V1008I	probably benign	Het
Frmpd2	C	T	14: 33,554,893	R1157*	probably null	Het
Gabrg2	A	C	11: 41,967,647	V218G	probably benign	Het
Gdpgp1	C	T	7: 80,239,205	A328V	probably damaging	Het
Grin2c	G	T	11: 115,255,281	A546D	probably damaging	Het
Gtf3c5	G	A	2: 28,568,580	T433I	possibly damaging	Het
Jmjd6	C	A	11: 116,843,229		probably benign	Het
Kctd14	T	C	7: 97,457,684	S49P	probably damaging	Het
Lamc2	T	A	1: 153,130,775	K877*	probably null	Het
Lgr4	T	A	2: 110,006,513	S397R	probably damaging	Het
Lrp2	A	T	2: 69,432,197	I4420N	possibly damaging	Het
Lyn	A	G	4: 3,783,089	K441E	possibly damaging	Het
Minpp1	A	T	19: 32,485,959	S7C	possibly damaging	Het
Mrps9	T	A	1: 42,862,648	D105E	probably damaging	Het
Ncoa1	C	A	12: 4,313,095	A247S	possibly damaging	Het
Olfr548-ps1	G	A	7: 102,542,308	R124H	possibly damaging	Het
Olfr893	T	C	9: 38,209,200	V47A	probably benign	Het
Pcdh15	G	A	10: 74,594,190	V1250I	probably damaging	Het
Pcdha12	A	T	18: 37,020,356	T43S	probably damaging	Het
Pkn2	G	A	3: 142,810,719	R549C	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Polq	T	A	16: 37,060,642	M1056K	probably benign	Het
Ppp1r12b	A	T	1: 134,876,055	N455K	probably benign	Het
Rhbdf1	T	A	11: 32,216,258	M1L	possibly damaging	Het
Rspry1	G	T	8: 94,623,007	V8L	probably benign	Het
Slc6a20b	A	G	9: 123,607,601	V249A	probably damaging	Het
Smok2b	A	T	17: 13,236,159	H402L	possibly damaging	Het
Supt20	A	T	3: 54,713,199	N393I	probably benign	Het
Tcp11l1	T	C	2: 104,698,648	K102E	probably damaging	Het
Tpbgl	T	C	7: 99,625,591	Y353C	probably damaging	Het
Usp24	A	T	4: 106,430,544	Q2465L	probably damaging	Het
Vmn2r116	T	A	17: 23,386,972	M286K	probably damaging	Het
Wnt16	C	A	6: 22,291,189	N205K	possibly damaging	Het
Xkr7	C	A	2: 153,032,215	F67L	probably damaging	Het
Zfp473	T	G	7: 44,734,576	E111A	probably damaging	Het
Zfp74	T	C	7: 29,932,442	K126E	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
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'- TTCACACCCTCAATGCCTGG -3'
(R):5'- AGTCATTCTAGCAAGGGTGTAC -3'

Sequencing Primer
(F):5'- TGCCTGGACCGGACAACAAG -3'
(R):5'- TGTACCCTAGCTCAGGTAGAC -3'

Posted On

2020-09-15