Mutagenetix > Incidental Mutation

Incidental Mutation 'R4223:Glis1'

319444

Institutional Source

Beutler Lab

Gene Symbol

Glis1

Ensembl Gene

ENSMUSG00000034762

Gene Name

GLIS family zinc finger 1

Synonyms

GliH1

MMRRC Submission

041043-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4223 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107291788-107492258 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107425042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 218 (S218P)

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: S218P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: S218P

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: S30P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: S30P

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

Meta Mutation Damage Score

0.0684

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (65/66)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	G	10: 78,930,286 (GRCm39)	Y43H	probably damaging	Het
Aamp	A	T	1: 74,320,285 (GRCm39)	L348Q	probably damaging	Het
Abcb1b	T	A	5: 8,863,722 (GRCm39)	L226M	probably damaging	Het
Acap1	A	G	11: 69,774,511 (GRCm39)	S396P	probably damaging	Het
Aif1l	A	T	2: 31,852,251 (GRCm39)	S40C	probably damaging	Het
Atp1a3	T	C	7: 24,700,355 (GRCm39)	D48G	probably benign	Het
Bhmt-ps1	T	A	4: 26,369,352 (GRCm39)		noncoding transcript	Het
Ccdc116	A	G	16: 16,964,809 (GRCm39)		probably benign	Het
Cmtm5	T	A	14: 55,175,376 (GRCm39)	C51S	probably damaging	Het
Cyb5rl	T	C	4: 106,938,185 (GRCm39)	V214A	probably damaging	Het
Cyp4x1	A	T	4: 114,970,077 (GRCm39)	I350N	probably damaging	Het
Efcab6	C	A	15: 83,751,309 (GRCm39)	D1498Y	probably damaging	Het
Eif3c	C	G	7: 126,165,471 (GRCm39)		probably benign	Het
Epha3	G	A	16: 63,403,902 (GRCm39)	S733L	probably damaging	Het
Esyt1	T	C	10: 128,356,517 (GRCm39)	Y376C	probably damaging	Het
Galnt1	T	C	18: 24,371,413 (GRCm39)	F4L	probably benign	Het
Gm15854	A	T	6: 129,949,426 (GRCm39)		noncoding transcript	Het
Gm29125	T	C	1: 80,361,236 (GRCm39)		noncoding transcript	Het
Inpp5a	T	C	7: 139,138,821 (GRCm39)	V263A	possibly damaging	Het
Itgb1	T	G	8: 129,440,624 (GRCm39)	I255S	probably damaging	Het
Kcp	A	G	6: 29,482,257 (GRCm39)	L1547P	possibly damaging	Het
Kifc3	C	A	8: 95,836,610 (GRCm39)	L72F	probably damaging	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Lrrc55	G	A	2: 85,026,460 (GRCm39)	A188V	possibly damaging	Het
Ly6i	A	T	15: 74,854,884 (GRCm39)	S9T	probably benign	Het
Mfsd14b	C	T	13: 65,214,422 (GRCm39)		probably benign	Het
Nipsnap3a	T	A	4: 52,997,251 (GRCm39)	D172E	probably benign	Het
Or4g7	A	T	2: 111,309,489 (GRCm39)	Y120F	probably benign	Het
Oxgr1	T	C	14: 120,260,025 (GRCm39)	K61E	probably damaging	Het
Pak2	G	T	16: 31,871,028 (GRCm39)	N51K	probably benign	Het
Pcdhgb7	T	A	18: 37,886,856 (GRCm39)	D675E	probably benign	Het
Pcolce	T	A	5: 137,603,389 (GRCm39)		probably benign	Het
Phc3	A	T	3: 30,990,968 (GRCm39)	S383R	probably damaging	Het
Phf1	C	T	17: 27,156,474 (GRCm39)	R539*	probably null	Het
Plch1	G	A	3: 63,609,321 (GRCm39)	T48I	probably damaging	Het
Plekha2	A	G	8: 25,533,036 (GRCm39)	S312P	probably damaging	Het
Pnpla7	T	C	2: 24,872,126 (GRCm39)	F69L	possibly damaging	Het
Ppcdc	T	A	9: 57,321,998 (GRCm39)	M181L	possibly damaging	Het
Ptbp1	T	C	10: 79,695,047 (GRCm39)	I125T	probably benign	Het
Rfc3	C	A	5: 151,574,637 (GRCm39)		probably benign	Het
Rpa2	T	G	4: 132,504,055 (GRCm39)	I69S	probably damaging	Het
Rtn4	G	A	11: 29,656,856 (GRCm39)	V337I	probably benign	Het
Rttn	T	C	18: 89,113,708 (GRCm39)	L1709P	probably damaging	Het
Sh2b2	G	A	5: 136,247,907 (GRCm39)	P548L	possibly damaging	Het
Slc12a2	T	A	18: 58,043,328 (GRCm39)	S591T	probably damaging	Het
Slc25a45	A	T	19: 5,930,146 (GRCm39)	I39F	probably damaging	Het
Slc38a9	G	A	13: 112,850,782 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,658,286 (GRCm39)	V603A	probably damaging	Het
Snx19	T	G	9: 30,339,744 (GRCm39)	V294G	possibly damaging	Het
Sp140l2	T	C	1: 85,090,278 (GRCm39)	D83G	probably damaging	Het
Sspo	G	T	6: 48,428,091 (GRCm39)	V313L	possibly damaging	Het
Stard9	A	G	2: 120,495,472 (GRCm39)	T116A	possibly damaging	Het
Strn3	C	T	12: 51,674,638 (GRCm39)	R382Q	probably damaging	Het
Trim43b	T	A	9: 88,972,692 (GRCm39)	Q154L	probably benign	Het
Trps1	A	G	15: 50,710,044 (GRCm39)	V98A	probably benign	Het
Vmn1r220	T	A	13: 23,368,148 (GRCm39)	M183L	probably benign	Het
Vmn2r60	A	T	7: 41,765,952 (GRCm39)	T20S	probably benign	Het
Wdr81	T	C	11: 75,338,828 (GRCm39)	T1444A	probably benign	Het
Xirp2	A	T	2: 67,346,837 (GRCm39)	E3026V	possibly damaging	Het

Other mutations in Glis1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02157:Glis1	APN	4	107,484,758 (GRCm39)	missense	probably benign	0.01
IGL02450:Glis1	APN	4	107,484,726 (GRCm39)	missense	probably benign	0.25
IGL03167:Glis1	APN	4	107,293,102 (GRCm39)	missense	possibly damaging	0.90
IGL03189:Glis1	APN	4	107,472,248 (GRCm39)	missense	probably damaging	1.00
IGL03377:Glis1	APN	4	107,489,478 (GRCm39)	missense	probably damaging	0.98
glenys	UTSW	4	107,484,740 (GRCm39)	missense	possibly damaging	0.91
R0551:Glis1	UTSW	4	107,425,316 (GRCm39)	splice site	probably null
R0981:Glis1	UTSW	4	107,472,239 (GRCm39)	missense	probably damaging	1.00
R1036:Glis1	UTSW	4	107,489,461 (GRCm39)	missense	probably benign	0.05
R1527:Glis1	UTSW	4	107,425,123 (GRCm39)	missense	probably damaging	0.96
R1741:Glis1	UTSW	4	107,425,544 (GRCm39)	missense	probably damaging	1.00
R2937:Glis1	UTSW	4	107,489,488 (GRCm39)	missense	possibly damaging	0.89
R2938:Glis1	UTSW	4	107,489,488 (GRCm39)	missense	possibly damaging	0.89
R4412:Glis1	UTSW	4	107,491,915 (GRCm39)	missense	probably damaging	0.99
R4587:Glis1	UTSW	4	107,484,740 (GRCm39)	missense	possibly damaging	0.91
R4685:Glis1	UTSW	4	107,424,842 (GRCm39)	missense	probably benign	0.00
R4900:Glis1	UTSW	4	107,476,761 (GRCm39)	missense	probably damaging	1.00
R5138:Glis1	UTSW	4	107,480,302 (GRCm39)	frame shift	probably null
R5167:Glis1	UTSW	4	107,491,891 (GRCm39)	missense	probably damaging	1.00
R5511:Glis1	UTSW	4	107,293,074 (GRCm39)	missense	probably damaging	0.99
R5568:Glis1	UTSW	4	107,476,832 (GRCm39)	missense	probably damaging	0.99
R5807:Glis1	UTSW	4	107,425,279 (GRCm39)	missense	probably benign	0.00
R6006:Glis1	UTSW	4	107,425,103 (GRCm39)	missense	probably damaging	1.00
R6180:Glis1	UTSW	4	107,484,710 (GRCm39)	missense	probably benign	0.06
R6219:Glis1	UTSW	4	107,489,102 (GRCm39)	missense	probably benign	0.27
R6856:Glis1	UTSW	4	107,293,076 (GRCm39)	missense	probably damaging	0.96
R7278:Glis1	UTSW	4	107,292,880 (GRCm39)	start codon destroyed	probably null	0.53
R7877:Glis1	UTSW	4	107,491,900 (GRCm39)	missense	probably damaging	1.00
R7937:Glis1	UTSW	4	107,484,723 (GRCm39)	missense	possibly damaging	0.68
R7940:Glis1	UTSW	4	107,489,572 (GRCm39)	missense	probably damaging	0.99
R7940:Glis1	UTSW	4	107,489,571 (GRCm39)	missense	probably damaging	1.00
R7954:Glis1	UTSW	4	107,476,854 (GRCm39)	missense	possibly damaging	0.82
R8078:Glis1	UTSW	4	107,425,099 (GRCm39)	missense	probably damaging	1.00
R8931:Glis1	UTSW	4	107,421,060 (GRCm39)	missense	probably benign	0.35
R9227:Glis1	UTSW	4	107,425,327 (GRCm39)	missense	probably benign	0.45
R9230:Glis1	UTSW	4	107,425,327 (GRCm39)	missense	probably benign	0.45
R9767:Glis1	UTSW	4	107,491,794 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CAGACCTCAGGCTACGTTTG -3'
(R):5'- GCTTCGGAGTCCATTTACACAG -3'

Sequencing Primer
(F):5'- AGACCTCAGGCTACGTTTGTGAAC -3'
(R):5'- GGAGTCCATTTACACAGCTAACTAG -3'

Posted On

2015-06-10