Mutagenetix > Incidental Mutation

Incidental Mutation 'R9227:Glis1'

699913

Institutional Source

Beutler Lab

Gene Symbol

Glis1

Ensembl Gene

ENSMUSG00000034762

Gene Name

GLIS family zinc finger 1

Synonyms

GliH1

MMRRC Submission

068984-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9227 (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: 99.2%

Validation Efficiency

100% (79/79)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	T	10: 77,321,792 (GRCm38)	F274I	probably damaging	Het
Adprhl1	C	T	8: 13,221,974 (GRCm38)	V1595I	probably benign	Het
Anxa6	A	G	11: 55,007,868 (GRCm38)	V160A	probably benign	Het
Appl1	T	C	14: 26,923,735 (GRCm38)	E706G	unknown	Het
Arhgap21	T	C	2: 20,855,658 (GRCm38)	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,947,939 (GRCm38)	Y511C	probably damaging	Het
Atp1a1	A	T	3: 101,592,434 (GRCm38)	C111S	probably damaging	Het
Atp6v0d2	T	A	4: 19,878,374 (GRCm38)	M300L	probably benign	Het
BC027072	A	G	17: 71,750,222 (GRCm38)	L820P	probably damaging	Het
C1ra	T	C	6: 124,516,780 (GRCm38)	C164R	probably damaging	Het
Cacna1h	T	C	17: 25,380,882 (GRCm38)	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,549,794 (GRCm38)	I563T	probably benign	Het
Cd180	TA	TAA	13: 102,705,006 (GRCm38)		probably null	Het
Cd55b	A	T	1: 130,422,882 (GRCm38)	L26*	probably null	Het
Cdc42bpa	A	G	1: 180,106,073 (GRCm38)	N759S	probably benign	Het
Cenpj	C	T	14: 56,564,719 (GRCm38)	E130K	possibly damaging	Het
Cep250	C	T	2: 155,970,122 (GRCm38)	A446V	unknown	Het
Chd7	C	T	4: 8,805,272 (GRCm38)	S777L	probably benign	Het
Chrm3	C	A	13: 9,878,443 (GRCm38)	V186L	probably benign	Het
Clrn2	A	G	5: 45,463,941 (GRCm38)	T226A	probably damaging	Het
Col3a1	C	T	1: 45,343,978 (GRCm38)	P1071S	unknown	Het
Dytn	A	T	1: 63,647,452 (GRCm38)	V353D	probably benign	Het
Egfem1	G	A	3: 29,357,168 (GRCm38)	E155K	probably benign	Het
Eif3m	A	T	2: 105,001,360 (GRCm38)	M285K	probably damaging	Het
Fam135b	T	C	15: 71,464,007 (GRCm38)	K446R	probably benign	Het
Fam186a	T	C	15: 99,955,503 (GRCm38)	T119A	unknown	Het
Frmd4a	T	C	2: 4,608,033 (GRCm38)	S1025P	possibly damaging	Het
Fubp3	A	G	2: 31,612,552 (GRCm38)	H449R	probably benign	Het
Fyco1	A	T	9: 123,819,146 (GRCm38)	I1241N	probably damaging	Het
Gabpb2	A	T	3: 95,204,687 (GRCm38)	M77K	probably damaging	Het
Gfpt1	T	A	6: 87,050,924 (GRCm38)	I4K	probably damaging	Het
Gif	G	A	19: 11,760,384 (GRCm38)	W386*	probably null	Het
Gm3376	T	G	Y: 3,774,819 (GRCm38)	D5E	probably damaging	Het
Golga4	T	A	9: 118,556,873 (GRCm38)	M1021K	possibly damaging	Het
Grid2ip	G	A	5: 143,373,439 (GRCm38)	R270Q	probably damaging	Het
Hps4	G	A	5: 112,378,039 (GRCm38)	S642N	possibly damaging	Het
Ifit1	A	G	19: 34,647,836 (GRCm38)	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,571,515 (GRCm38)	D95G	probably benign	Het
Ilkap	A	C	1: 91,387,215 (GRCm38)	I142S	probably benign	Het
Inpp5e	C	T	2: 26,398,604 (GRCm38)	R588H	probably damaging	Het
Kif1b	A	C	4: 149,237,900 (GRCm38)	M854R	probably damaging	Het
Lcn6	A	T	2: 25,680,095 (GRCm38)	K91M	probably damaging	Het
Lpin1	A	T	12: 16,538,482 (GRCm38)	S902R	unknown	Het
Lrig1	C	A	6: 94,630,132 (GRCm38)	C160F	probably damaging	Het
Mapk13	T	C	17: 28,775,558 (GRCm38)	I141T	probably damaging	Het
Mapkapk3	A	G	9: 107,260,155 (GRCm38)	L175P	probably damaging	Het
Micall2	A	G	5: 139,716,072 (GRCm38)	V472A	unknown	Het
Mmp15	T	C	8: 95,366,331 (GRCm38)	F113L	probably benign	Het
Msh2	T	G	17: 87,719,289 (GRCm38)	S738A	probably benign	Het
Myb	C	T	10: 21,154,713 (GRCm38)	D62N	probably benign	Het
Myo1f	T	C	17: 33,576,450 (GRCm38)	V53A	probably damaging	Het
Ncf1	A	T	5: 134,221,864 (GRCm38)	N367K	probably benign	Het
Nim1k	C	A	13: 119,712,582 (GRCm38)	V259F	probably damaging	Het
Nme8	T	G	13: 19,690,214 (GRCm38)	I139L	probably benign	Het
Odam	T	C	5: 87,886,598 (GRCm38)	F46L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266 (GRCm38)		probably benign	Het
Olfr8	G	A	10: 78,956,095 (GRCm38)	D297N	possibly damaging	Het
Pcdha9	A	G	18: 36,998,901 (GRCm38)	E341G	probably damaging	Het
Pmepa1	T	C	2: 173,276,169 (GRCm38)	T6A	probably benign	Het
Poglut1	A	T	16: 38,534,806 (GRCm38)	D219E	possibly damaging	Het
Racgap1	A	G	15: 99,636,197 (GRCm38)	S145P	possibly damaging	Het
Rasgef1a	C	T	6: 118,089,149 (GRCm38)	T441I	possibly damaging	Het
Rbm6	T	C	9: 107,787,299 (GRCm38)	T844A	probably benign	Het
Rell1	T	C	5: 63,939,762 (GRCm38)		probably benign	Het
Ripk3	A	G	14: 55,785,846 (GRCm38)	F134S	probably benign	Het
Rnf169	T	C	7: 99,925,492 (GRCm38)	D632G	possibly damaging	Het
Sclt1	A	T	3: 41,711,196 (GRCm38)	W146R	probably benign	Het
Setd5	T	C	6: 113,121,794 (GRCm38)	F796S	possibly damaging	Het
Slc24a5	G	T	2: 125,080,648 (GRCm38)	G110V	probably damaging	Het
Slc30a10	T	A	1: 185,455,194 (GRCm38)	M44K	probably damaging	Het
Slc38a10	T	A	11: 120,105,955 (GRCm38)	D772V	probably benign	Het
Thy1	C	T	9: 44,046,707 (GRCm38)	T44I	probably damaging	Het
Tinagl1	G	T	4: 130,167,478 (GRCm38)	S324Y	probably benign	Het
Tll2	T	A	19: 41,104,997 (GRCm38)	Y477F	probably benign	Het
Tmco1	C	T	1: 167,308,563 (GRCm38)		probably benign	Het
Tmco6	T	C	18: 36,741,666 (GRCm38)	L402P	probably damaging	Het
Tnrc18	G	T	5: 142,787,637 (GRCm38)	A479D		Het
Uba7	T	C	9: 107,975,802 (GRCm38)	V12A	possibly damaging	Het
Usp5	T	C	6: 124,818,636 (GRCm38)	D598G	probably damaging	Het
Vmn1r158	C	T	7: 22,790,044 (GRCm38)	V247I	probably benign	Het
Vpreb2	A	G	16: 17,980,937 (GRCm38)	N96D	probably damaging	Het
Zcchc17	A	T	4: 130,337,135 (GRCm38)	M87K	probably damaging	Het

Other mutations in Glis1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02157:Glis1	APN	4	107,627,561 (GRCm38)	missense	probably benign	0.01
IGL02450:Glis1	APN	4	107,627,529 (GRCm38)	missense	probably benign	0.25
IGL03167:Glis1	APN	4	107,435,905 (GRCm38)	missense	possibly damaging	0.90
IGL03189:Glis1	APN	4	107,615,051 (GRCm38)	missense	probably damaging	1.00
IGL03377:Glis1	APN	4	107,632,281 (GRCm38)	missense	probably damaging	0.98
glenys	UTSW	4	107,627,543 (GRCm38)	missense	possibly damaging	0.91
R0551:Glis1	UTSW	4	107,568,119 (GRCm38)	splice site	probably null
R0981:Glis1	UTSW	4	107,615,042 (GRCm38)	missense	probably damaging	1.00
R1036:Glis1	UTSW	4	107,632,264 (GRCm38)	missense	probably benign	0.05
R1527:Glis1	UTSW	4	107,567,926 (GRCm38)	missense	probably damaging	0.96
R1741:Glis1	UTSW	4	107,568,347 (GRCm38)	missense	probably damaging	1.00
R2937:Glis1	UTSW	4	107,632,291 (GRCm38)	missense	possibly damaging	0.89
R2938:Glis1	UTSW	4	107,632,291 (GRCm38)	missense	possibly damaging	0.89
R4223:Glis1	UTSW	4	107,567,845 (GRCm38)	missense	probably benign	0.01
R4412:Glis1	UTSW	4	107,634,718 (GRCm38)	missense	probably damaging	0.99
R4587:Glis1	UTSW	4	107,627,543 (GRCm38)	missense	possibly damaging	0.91
R4685:Glis1	UTSW	4	107,567,645 (GRCm38)	missense	probably benign	0.00
R4900:Glis1	UTSW	4	107,619,564 (GRCm38)	missense	probably damaging	1.00
R5138:Glis1	UTSW	4	107,623,105 (GRCm38)	frame shift	probably null
R5167:Glis1	UTSW	4	107,634,694 (GRCm38)	missense	probably damaging	1.00
R5511:Glis1	UTSW	4	107,435,877 (GRCm38)	missense	probably damaging	0.99
R5568:Glis1	UTSW	4	107,619,635 (GRCm38)	missense	probably damaging	0.99
R5807:Glis1	UTSW	4	107,568,082 (GRCm38)	missense	probably benign	0.00
R6006:Glis1	UTSW	4	107,567,906 (GRCm38)	missense	probably damaging	1.00
R6180:Glis1	UTSW	4	107,627,513 (GRCm38)	missense	probably benign	0.06
R6219:Glis1	UTSW	4	107,631,905 (GRCm38)	missense	probably benign	0.27
R6856:Glis1	UTSW	4	107,435,879 (GRCm38)	missense	probably damaging	0.96
R7278:Glis1	UTSW	4	107,435,683 (GRCm38)	start codon destroyed	probably null	0.53
R7877:Glis1	UTSW	4	107,634,703 (GRCm38)	missense	probably damaging	1.00
R7937:Glis1	UTSW	4	107,627,526 (GRCm38)	missense	possibly damaging	0.68
R7940:Glis1	UTSW	4	107,632,375 (GRCm38)	missense	probably damaging	0.99
R7940:Glis1	UTSW	4	107,632,374 (GRCm38)	missense	probably damaging	1.00
R7954:Glis1	UTSW	4	107,619,657 (GRCm38)	missense	possibly damaging	0.82
R8078:Glis1	UTSW	4	107,567,902 (GRCm38)	missense	probably damaging	1.00
R8931:Glis1	UTSW	4	107,563,863 (GRCm38)	missense	probably benign	0.35
R9230:Glis1	UTSW	4	107,568,130 (GRCm38)	missense	probably benign	0.45
R9767:Glis1	UTSW	4	107,634,597 (GRCm38)	missense	probably benign	0.03

Predicted Primers

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

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

Posted On

2022-02-07