Mutagenetix > Incidental Mutation

Incidental Mutation 'R9230:Glis1'

700157

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 #

R9230 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107434591-107635061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107568130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 313 (S313P)

Ref Sequence

ENSEMBL: ENSMUSP00000035650 (fasta)

Gene Model

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

AlphaFold

Q8K1M4

Predicted Effect

probably benign
Transcript: ENSMUST00000046005
AA Change: S313P

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: S313P

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: S125P

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: S125P

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

probably benign
Transcript: ENSMUST00000135835

SMART Domains

Protein: ENSMUSP00000118600
Gene: ENSMUSG00000034762

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	T	10: 77,321,792	F274I	probably damaging	Het
Aen	T	A	7: 78,902,359	D22E	probably damaging	Het
Appl1	T	C	14: 26,923,735	E706G	unknown	Het
Arhgap21	T	C	2: 20,855,658	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,947,939	Y511C	probably damaging	Het
BC027072	A	G	17: 71,750,222	L820P	probably damaging	Het
Bsn	T	C	9: 108,112,260	T2098A	probably damaging	Het
Cacna1h	T	C	17: 25,380,882	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,549,794	I563T	probably benign	Het
Cd180	TA	TAA	13: 102,705,006		probably null	Het
Cd55b	A	T	1: 130,422,882	L26*	probably null	Het
Cdc42bpa	A	G	1: 180,106,073	N759S	probably benign	Het
Chrm3	C	A	13: 9,878,443	V186L	probably benign	Het
Clrn2	A	G	5: 45,463,941	T226A	probably damaging	Het
Col3a1	C	T	1: 45,343,978	P1071S	unknown	Het
Csgalnact2	A	G	6: 118,126,251	L250P	probably damaging	Het
Cyp4a31	G	T	4: 115,571,084	E326*	probably null	Het
Def8	A	G	8: 123,459,578	E352G	probably benign	Het
Dmbt1	A	G	7: 131,037,912	D60G	probably benign	Het
Dock3	A	G	9: 106,930,024	L1368P	probably damaging	Het
Dytn	A	T	1: 63,647,452	V353D	probably benign	Het
Egfem1	G	A	3: 29,357,168	E155K	probably benign	Het
Eif3m	A	T	2: 105,001,360	M285K	probably damaging	Het
Fam135b	T	C	15: 71,464,007	K446R	probably benign	Het
Fam196a	A	T	7: 134,918,710	Y30*	probably null	Het
Fbxo22	T	C	9: 55,209,158	L36P	probably damaging	Het
Frmd4a	T	C	2: 4,608,033	S1025P	possibly damaging	Het
Gif	G	A	19: 11,760,384	W386*	probably null	Het
Gja8	C	T	3: 96,919,348	V333M	possibly damaging	Het
Gm11487	C	T	4: 73,401,448	A264T	probably benign	Het
Gm3376	T	G	Y: 3,774,819	D5E	probably damaging	Het
Grid2ip	G	A	5: 143,373,439	R270Q	probably damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Hspa4	T	C	11: 53,280,639	E246G	probably benign	Het
Ibtk	A	G	9: 85,703,649		probably null	Het
Ifit1	A	G	19: 34,647,836	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,571,515	D95G	probably benign	Het
Igsf10	G	A	3: 59,336,422	R164W	probably damaging	Het
Ilkap	A	C	1: 91,387,215	I142S	probably benign	Het
Kctd14	C	G	7: 97,454,897	P53R	unknown	Het
Kndc1	A	T	7: 139,920,684	D655V	probably damaging	Het
Krt2	A	C	15: 101,817,513	S197A	probably benign	Het
Lpin1	A	T	12: 16,538,482	S902R	unknown	Het
Mapk13	T	C	17: 28,775,558	I141T	probably damaging	Het
Micall2	A	G	5: 139,716,072	V472A	unknown	Het
Mmp15	T	C	8: 95,366,331	F113L	probably benign	Het
Msh2	T	G	17: 87,719,289	S738A	probably benign	Het
Muc20	T	G	16: 32,793,214	T598P	probably damaging	Het
Myo1f	T	C	17: 33,576,450	V53A	probably damaging	Het
Ncf1	A	T	5: 134,221,864	N367K	probably benign	Het
Nme8	T	G	13: 19,690,214	I139L	probably benign	Het
Odam	T	C	5: 87,886,598	F46L	probably benign	Het
Olfr559	C	A	7: 102,723,588	V301F	possibly damaging	Het
Olfr8	G	A	10: 78,956,095	D297N	possibly damaging	Het
Pi4ka	A	G	16: 17,281,924	I1945T		Het
Rell1	T	C	5: 63,939,762		probably benign	Het
Ripk3	A	G	14: 55,785,846	F134S	probably benign	Het
Sclt1	A	T	3: 41,711,196	W146R	probably benign	Het
Slc18a2	T	C	19: 59,273,215	M178T	probably benign	Het
Slc24a5	G	T	2: 125,080,648	G110V	probably damaging	Het
Slc38a10	T	A	11: 120,105,955	D772V	probably benign	Het
Slc9c1	T	C	16: 45,577,912	L680P	possibly damaging	Het
Tll2	T	A	19: 41,104,997	Y477F	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tnrc18	G	T	5: 142,787,637	A479D		Het
Topaz1	T	A	9: 122,767,032	M956K	probably benign	Het
Vmn2r56	T	A	7: 12,710,310	D465V	possibly damaging	Het
Xndc1	T	A	7: 102,073,269	V47E	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
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
R9767:Glis1	UTSW	4	107634597	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGATATCAATCCTGTCATCCACTC -3'
(R):5'- AGAAGCAGGTGAAGTCTTCGC -3'

Sequencing Primer
(F):5'- CCTCCCAGACAGCTCTAGTTAG -3'
(R):5'- GTGAAGTCTTCGCCCTTGC -3'

Posted On

2022-02-07