Mutagenetix > Incidental Mutation

Incidental Mutation 'R4685:Glis1'

353593

Institutional Source

Beutler Lab

Gene Symbol

Glis1

Ensembl Gene

ENSMUSG00000034762

Gene Name

GLIS family zinc finger 1

Synonyms

GliH1

MMRRC Submission

041936-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4685 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107434591-107635061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107567645 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 151 (V151A)

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: V151A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: V151A

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

SMART Domains

Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762

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

0.0649

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (71/73)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	C	12: 17,007,184	D104G	probably damaging	Het
2810021J22Rik	T	C	11: 58,880,924	S411P	probably damaging	Het
Adcy2	T	C	13: 68,727,905	R493G	probably benign	Het
Adcy8	A	G	15: 64,737,438	I874T	probably benign	Het
Ano2	G	T	6: 125,980,124	E619*	probably null	Het
Apob	A	G	12: 8,006,456	K1613R	probably benign	Het
Arhgef10	T	A	8: 14,956,963	F476Y	probably damaging	Het
Bmf	G	A	2: 118,546,802	A74V	probably damaging	Het
Cadps	T	C	14: 12,467,139	E925G	possibly damaging	Het
Ccdc162	T	C	10: 41,681,686	D181G	possibly damaging	Het
Ccdc85c	A	T	12: 108,207,175	C387S	probably benign	Het
Cntnap5a	T	C	1: 116,446,680	V974A	possibly damaging	Het
Dnah7b	T	C	1: 46,211,328	F1703S	probably damaging	Het
Dsg3	C	A	18: 20,539,736	D821E	probably benign	Het
Ecel1	G	T	1: 87,152,946		probably null	Het
Edn1	A	T	13: 42,305,253		probably null	Het
Egfr	G	A	11: 16,858,980	C58Y	probably damaging	Het
Fam184a	T	C	10: 53,698,500	N282D	probably benign	Het
Fhit	T	A	14: 9,870,091	Q63L	probably damaging	Het
Gabarapl2	T	C	8: 111,942,518	V36A	probably benign	Het
Gm12695	A	G	4: 96,761,980	S210P	probably damaging	Het
Gpat4	TAGAAGA	TAGA	8: 23,182,849		probably benign	Het
H2-M10.4	G	A	17: 36,461,796	A98V	probably benign	Het
Hhat	C	A	1: 192,595,054	G366C	probably damaging	Het
Hydin	C	A	8: 110,462,522	A1186E	probably damaging	Het
Itgb2	T	A	10: 77,550,103		probably null	Het
Kank1	C	T	19: 25,410,034	A329V	possibly damaging	Het
Kdm4b	T	A	17: 56,401,675	S1070T	probably benign	Het
Kyat1	A	G	2: 30,188,265	Y101H	probably damaging	Het
Lman1l	T	A	9: 57,609,200	I407F	probably damaging	Het
Map4k5	T	C	12: 69,811,366	K679R	probably benign	Het
Mill1	A	T	7: 18,255,928	D45V	probably damaging	Het
Myo3a	T	A	2: 22,407,422	Y743N	probably damaging	Het
Nox4	C	G	7: 87,297,508	I137M	probably benign	Het
Odf4	A	G	11: 68,922,839		probably null	Het
Ostf1	A	T	19: 18,581,288	D210E	probably damaging	Het
Paxip1	A	T	5: 27,761,677		probably null	Het
Pitrm1	A	G	13: 6,556,542	T211A	probably benign	Het
Pla2g4f	A	G	2: 120,305,015	S393P	probably damaging	Het
Plppr3	T	C	10: 79,867,525	T42A	probably damaging	Het
Plxna4	C	A	6: 32,165,844	G1559W	probably damaging	Het
Ppp1r13l	T	C	7: 19,375,383		probably null	Het
Prex1	C	T	2: 166,638,332	V163M	probably damaging	Het
Prl6a1	A	G	13: 27,316,324	T93A	probably benign	Het
Psg16	T	C	7: 17,090,534	V81A	probably benign	Het
Rbm33	A	T	5: 28,408,282		probably benign	Het
Rest	C	T	5: 77,275,243	P298L	possibly damaging	Het
Rhobtb3	G	A	13: 75,878,932	R441*	probably null	Het
Rims4	T	A	2: 163,864,994	K155*	probably null	Het
Rps6kb1	C	T	11: 86,519,887		probably null	Het
Ryr2	T	C	13: 11,692,646	D2835G	probably damaging	Het
Sc5d	C	T	9: 42,258,650	V92I	probably benign	Het
Sell	A	T	1: 164,066,260	I175F	probably damaging	Het
Serpinb6d	A	G	13: 33,671,228	D295G	probably damaging	Het
Sphk1	A	G	11: 116,535,280	D96G	probably damaging	Het
Spns3	A	T	11: 72,537,270	V228D	probably damaging	Het
Sspo	A	G	6: 48,492,894	S4500G	probably damaging	Het
Syt9	T	A	7: 107,436,471	C232S	possibly damaging	Het
Terf1	A	G	1: 15,818,961	I176V	possibly damaging	Het
Tln2	C	T	9: 67,302,572	A428T	probably damaging	Het
Tmprss7	T	C	16: 45,679,348	N321S	probably benign	Het
Tomm40	A	G	7: 19,701,836	I323T	probably benign	Het
Try5	T	A	6: 41,311,299	Q240L	possibly damaging	Het
Vmn1r213	A	T	13: 23,011,630	I128L	probably benign	Het
Vmn2r80	T	C	10: 79,194,328	F663L	possibly damaging	Het
Znfx1	T	A	2: 167,039,030	Y278F	probably damaging	Het
Zpbp2	A	G	11: 98,551,291		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
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
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'- TGACTCCAGGGAAGCTAGAG -3'
(R):5'- CATTGCCCAGAAGGTAGCAG -3'

Sequencing Primer
(F):5'- AAGGGCTGTGTCCTTCCC -3'
(R):5'- TAGCAGGAAGGTGCAGGGTTG -3'

Posted On

2015-10-21