Mutagenetix > Incidental Mutation

Incidental Mutation 'R6219:Glis1'

503892

Institutional Source

Beutler Lab

Gene Symbol

Glis1

Ensembl Gene

ENSMUSG00000034762

Gene Name

GLIS family zinc finger 1

Synonyms

GliH1

MMRRC Submission

044351-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107434591-107635061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107631905 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 487 (P487S)

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: P675S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: P675S

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: P487S

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: P487S

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (42/42)

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
6030445D17Rik	T	C	4: 136,462,748	S147P	unknown	Het
Acat2	T	C	17: 12,960,717		probably benign	Het
Ano2	A	G	6: 125,815,590	D349G	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Ccnf	C	A	17: 24,226,704	E523*	probably null	Het
Ccr10	C	T	11: 101,174,549	A52T	possibly damaging	Het
Cdc14b	C	T	13: 64,205,524		probably benign	Het
Cmya5	T	C	13: 93,094,443	E1379G	probably damaging	Het
Cyfip1	A	G	7: 55,908,441	D822G	possibly damaging	Het
Cyp4a29	A	C	4: 115,249,730	T195P	probably damaging	Het
Dmxl1	A	T	18: 49,902,367	T2283S	probably damaging	Het
Dnah7b	A	G	1: 46,233,585	D2291G	probably benign	Het
Dock3	T	A	9: 106,994,881	L493F	probably damaging	Het
Fbxw7	G	A	3: 84,969,213	G227D	probably damaging	Het
Fmo2	A	T	1: 162,880,516	V350D	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm14548	A	T	7: 3,894,641	V485E	probably damaging	Het
Gm29776	G	T	14: 54,695,659	Q356K	noncoding transcript	Het
Gm35315	G	T	5: 110,078,544	T343K	probably benign	Het
Gpr141	A	G	13: 19,752,527	I26T	probably benign	Het
Hectd4	T	G	5: 121,308,878	V311G	possibly damaging	Het
Ino80d	C	T	1: 63,079,047	E322K	possibly damaging	Het
Irs2	A	G	8: 11,005,121	S1104P	probably damaging	Het
Lama1	T	C	17: 67,790,856	F1744L	probably benign	Het
Lcn10	A	T	2: 25,683,575	R55*	probably null	Het
Lrp2	A	T	2: 69,469,478	C3077S	probably damaging	Het
Mdc1	T	A	17: 35,850,674	S826R	probably benign	Het
Nr2c1	G	T	10: 94,163,786	V103L	probably benign	Het
Nup133	A	T	8: 123,936,873	D310E	possibly damaging	Het
Olfr1356	A	G	10: 78,847,259	S219P	possibly damaging	Het
Pip5k1b	T	A	19: 24,381,823	E112D	probably damaging	Het
Reln	T	C	5: 21,948,596	K2237E	probably damaging	Het
Sirt2	A	G	7: 28,767,515		probably benign	Het
Slit2	A	T	5: 48,302,428	H1350L	possibly damaging	Het
Snx15	A	G	19: 6,121,508	S179P	probably damaging	Het
Sp8	T	G	12: 118,848,667	S86A	probably benign	Het
Sptbn5	T	C	2: 120,077,322		probably benign	Het
Tfap4	A	G	16: 4,547,311	S196P	probably damaging	Het
Tgm3	T	C	2: 130,038,610		probably null	Het
Tnks2	T	C	19: 36,866,204		probably benign	Het
Ttll11	A	T	2: 35,752,499		probably null	Het
Vwa3b	C	A	1: 37,100,698	Q367K	possibly damaging	Het
Zdhhc20	A	T	14: 57,840,883	V312E	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
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
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'- TAAATTAGTGCAGGTGCTGAGG -3'
(R):5'- GGTTGGCCTTCTCCCAAATC -3'

Sequencing Primer
(F):5'- GTACCTCTGTCCTGAAGTCATATGG -3'
(R):5'- GGCCTTCTCCCAAATCTACCAC -3'

Posted On

2018-02-27