Mutagenetix > Incidental Mutation

Incidental Mutation 'R5511:Glis1'

431208

Institutional Source

Beutler Lab

Gene Symbol

Glis1

Ensembl Gene

ENSMUSG00000034762

Gene Name

GLIS family zinc finger 1

Synonyms

GliH1

MMRRC Submission

043072-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5511 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

107434591-107635061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107435877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 66 (D66N)

Ref Sequence

ENSEMBL: ENSMUSP00000035650 (fasta)

Gene Model

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

AlphaFold

Q8K1M4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046005
AA Change: D66N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: D66N

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

noncoding transcript
Transcript: ENSMUST00000130573

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135835
AA Change: D66N

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118600
Gene: ENSMUSG00000034762
AA Change: D66N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174982

Meta Mutation Damage Score

0.1611

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.1%
20x: 90.3%

Validation Efficiency

98% (81/83)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	G	A	18: 57,538,084		probably null	Het
Agl	A	T	3: 116,788,560	V271D	possibly damaging	Het
Alox15	G	T	11: 70,349,982	P191T	probably benign	Het
Apaf1	T	C	10: 91,054,392	Y583C	probably damaging	Het
Aqp9	T	A	9: 71,163,093		probably benign	Het
Bms1	A	G	6: 118,388,887	F1113L	possibly damaging	Het
Cap1	A	C	4: 122,862,790		probably benign	Het
Car11	T	C	7: 45,700,461	W35R	probably damaging	Het
Casc3	T	A	11: 98,810,914	Y91*	probably null	Het
Cd22	A	T	7: 30,870,071	I540N	probably damaging	Het
Chad	A	T	11: 94,565,246	E50V	probably damaging	Het
Chd3	C	G	11: 69,361,475	G34R	probably damaging	Het
Col9a1	T	C	1: 24,179,538	V77A	unknown	Het
Copg1	G	A	6: 87,912,294	V873M	probably damaging	Het
Dnhd1	T	A	7: 105,714,156	V3975E	probably damaging	Het
Dock6	A	T	9: 21,817,407	V1290D	possibly damaging	Het
Elp2	A	T	18: 24,612,450	K150*	probably null	Het
Eri3	A	C	4: 117,615,189	Y260S	possibly damaging	Het
Esrrg	C	T	1: 188,211,107	L426F	probably damaging	Het
Farp1	G	T	14: 121,237,172	V266L	probably damaging	Het
Flnc	A	G	6: 29,458,898	E2459G	probably damaging	Het
Gm14129	T	A	2: 148,931,526		noncoding transcript	Het
Gm28051	A	G	12: 102,720,156	*82R	probably null	Het
Gm5538	T	C	3: 59,747,264	L173P	probably damaging	Het
Gm8741	G	T	17: 35,336,086		noncoding transcript	Het
Gne	C	T	4: 44,041,843	V485M	probably damaging	Het
Lcn10	T	A	2: 25,682,829	V15E	probably benign	Het
Mapk11	T	A	15: 89,145,177		probably null	Het
Me3	T	G	7: 89,806,668	Y243D	probably damaging	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Myo1h	T	A	5: 114,345,897	L519*	probably null	Het
Myo9a	T	C	9: 59,780,212	V200A	probably damaging	Het
Mzf1	T	A	7: 13,051,599	Q161H	possibly damaging	Het
Nim1k	T	G	13: 119,727,594	H93P	probably damaging	Het
Nkx6-1	C	A	5: 101,663,666	R190L	probably damaging	Het
Noc3l	A	G	19: 38,794,181	V671A	probably benign	Het
Nsd1	T	C	13: 55,312,730	S2257P	probably benign	Het
Nup210	T	A	6: 91,026,963	I648F	probably damaging	Het
Olfr1477	T	C	19: 13,503,192	M283T	probably benign	Het
Oplah	T	C	15: 76,305,744	E223G	possibly damaging	Het
Plekhs1	A	C	19: 56,485,792	T457P	probably damaging	Het
Plppr4	G	A	3: 117,325,902	T286I	probably benign	Het
Prpf4b	T	C	13: 34,884,054		probably benign	Het
Prss39	T	A	1: 34,502,797	D318E	possibly damaging	Het
Psap	A	G	10: 60,299,180	E289G	possibly damaging	Het
Rad17	A	G	13: 100,627,649	V438A	possibly damaging	Het
Raf1	T	C	6: 115,620,256	S28G	probably benign	Het
Ranbp2	A	G	10: 58,493,739	D2978G	probably benign	Het
Rnf170	T	A	8: 26,140,999	D213E	probably damaging	Het
Rsph3a	T	A	17: 7,946,073	H88Q	possibly damaging	Het
Scd1	A	G	19: 44,406,759	I9T	probably benign	Het
Sgk3	T	C	1: 9,898,686		probably benign	Het
Slc14a1	C	T	18: 78,102,471	S416N	probably benign	Het
Smok4a	T	C	17: 13,526,212		noncoding transcript	Het
Sostdc1	A	T	12: 36,317,166	I114F	probably damaging	Het
Spen	G	T	4: 141,516,838	D295E	unknown	Het
Spen	G	A	4: 141,475,064	T2084I	possibly damaging	Het
Sptbn5	T	C	2: 120,059,721		probably benign	Het
Srebf1	T	C	11: 60,210,358		probably benign	Het
Tcea3	A	T	4: 136,271,372	Y319F	probably damaging	Het
Timd4	T	A	11: 46,819,980		probably null	Het
Tmem88b	G	A	4: 155,785,545	P20S	probably damaging	Het
Tsen2	T	A	6: 115,561,404	C281S	probably damaging	Het
Vmn2r28	T	C	7: 5,484,012	T551A	possibly damaging	Het
Vmn2r45	T	C	7: 8,471,833	H732R	probably benign	Het
Wdr90	A	G	17: 25,845,021		probably benign	Het
Zdbf2	T	C	1: 63,305,677	S1072P	probably benign	Het
Zfp148	A	G	16: 33,434,634		probably benign	Het
Zfp2	T	A	11: 50,900,024	E397D	probably damaging	Het
Zfp729b	A	G	13: 67,592,380	F599L	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
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'- CTTTCGGACAAGAGGCCAAAGG -3'
(R):5'- AGTTCAGACTGACAGGCGAG -3'

Sequencing Primer
(F):5'- GAGGCCCCTGGTGCTCC -3'
(R):5'- TGACAGGCGAGTCCCAATC -3'

Posted On

2016-10-05