Mutagenetix > Incidental Mutation

Incidental Mutation 'R7877:Glis1'

608484

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 #

R7877 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107434591-107635061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107634703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 776 (D776G)

Ref Sequence

ENSEMBL: ENSMUSP00000035650 (fasta)

Gene Model

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

AlphaFold

Q8K1M4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046005
AA Change: D776G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035650
Gene: ENSMUSG00000034762
AA Change: D776G

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 damaging
Transcript: ENSMUST00000106738
AA Change: D588G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102349
Gene: ENSMUSG00000034762
AA Change: D588G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,001,833	C388Y	probably damaging	Het
1700029J07Rik	T	A	8: 45,970,399	K92M	probably damaging	Het
4930522L14Rik	G	A	5: 109,736,364	H543Y	probably damaging	Het
Abca1	A	T	4: 53,046,135	V1711E	possibly damaging	Het
Abca3	A	T	17: 24,384,023	K531*	probably null	Het
Adgrf5	A	T	17: 43,441,838	D557V	possibly damaging	Het
Adgrl3	A	G	5: 81,694,620	E865G	probably benign	Het
Adprhl1	T	A	8: 13,225,316	R481*	probably null	Het
Afap1l1	T	A	18: 61,746,782	D339V	probably damaging	Het
Atp9b	T	A	18: 80,847,197	H309L		Het
Baiap3	A	G	17: 25,251,138	V122A	probably damaging	Het
Btg4	T	C	9: 51,117,940	S142P	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cdca2	T	A	14: 67,677,216	T865S	probably benign	Het
Cdk12	A	G	11: 98,240,835	Y964C	unknown	Het
Cenpo	A	T	12: 4,214,573	F273Y	probably damaging	Het
Chac1	T	A	2: 119,353,506	D196E	probably damaging	Het
Clec4n	T	C	6: 123,232,104	F43L	probably benign	Het
Colgalt1	T	A	8: 71,621,864	C407S	probably damaging	Het
Csnk1g1	T	A	9: 65,999,548		probably null	Het
Cyp2b23	T	A	7: 26,686,426	E2V	probably damaging	Het
Cyp51	T	A	5: 4,102,929	K91M	probably damaging	Het
Dnah8	G	T	17: 30,663,374	G640V	probably benign	Het
Dnajc2	G	T	5: 21,760,639	S505R	possibly damaging	Het
Fam124b	A	T	1: 80,213,336	L110H	probably damaging	Het
Fam49a	A	C	12: 12,364,797	Y263S	probably benign	Het
Fem1b	T	A	9: 62,796,562	Y472F	probably benign	Het
Frem1	A	G	4: 83,013,812		probably null	Het
Gabrg1	A	T	5: 70,816,072	D46E	probably damaging	Het
Gbp4	T	C	5: 105,118,295	K627E	probably benign	Het
Gm4847	A	G	1: 166,640,006	V207A	possibly damaging	Het
Gm7298	T	A	6: 121,782,782	Y1213*	probably null	Het
Gm8229	T	A	14: 44,366,576	L74*	probably null	Het
Hc	A	T	2: 34,997,399	Y1364*	probably null	Het
Hnrnpa2b1	A	T	6: 51,466,322	S186R	unknown	Het
Hrh4	A	G	18: 13,022,525	I374V	possibly damaging	Het
Ighmbp2	A	G	19: 3,261,490	L975P	probably damaging	Het
Intu	G	A	3: 40,699,792	V905I	probably benign	Het
Large1	T	A	8: 73,116,443	R151W	probably damaging	Het
Limd2	G	A	11: 106,159,178	T24M	probably benign	Het
Med16	A	T	10: 79,898,372	C569*	probably null	Het
Mettl1	T	G	10: 127,044,521	V104G	possibly damaging	Het
Mgat4c	A	G	10: 102,385,039	T61A	probably benign	Het
Mrps31	T	A	8: 22,424,351	Y238N	probably benign	Het
Mrs2	T	C	13: 24,997,130	E236G	probably damaging	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Noxred1	G	A	12: 87,224,987	A136V	probably benign	Het
Obscn	T	A	11: 59,133,762	D484V	probably damaging	Het
Picalm	C	A	7: 90,130,668	H32Q	probably benign	Het
Pik3r5	G	A	11: 68,490,605	G206R	probably damaging	Het
Plekhh2	G	A	17: 84,575,006	C680Y	probably benign	Het
Plxna1	A	G	6: 89,323,259	F1614S	probably damaging	Het
Ppip5k1	T	C	2: 121,316,754	M1129V	probably benign	Het
Prp2	C	T	6: 132,595,965	T7I	unknown	Het
Rrbp1	A	T	2: 143,947,895		probably benign	Het
Sdhaf3	C	T	6: 7,038,855	T59M	probably benign	Het
Slc17a6	T	A	7: 51,625,505	I104N	probably benign	Het
Slc35c1	A	T	2: 92,459,057	W48R	probably damaging	Het
Slc5a4b	A	T	10: 76,075,052	C317S	probably damaging	Het
Smim13	G	T	13: 41,250,174		probably benign	Het
Snrpg	T	C	6: 86,378,779	V76A	probably benign	Het
Sntb2	C	T	8: 107,011,532	T509I	probably benign	Het
Sptbn1	T	C	11: 30,129,601	D1276G	possibly damaging	Het
Sptbn2	A	G	19: 4,744,262	E1498G	possibly damaging	Het
Stau1	T	A	2: 166,950,867	N393Y	possibly damaging	Het
Tars2	A	T	3: 95,746,089	S500T	probably damaging	Het
Tbc1d23	A	T	16: 57,173,125	D559E	probably benign	Het
Trav14-2	T	C	14: 53,641,051	Y64H	possibly damaging	Het
Trpm3	A	C	19: 22,904,784	E838D	probably benign	Het
Vmn1r23	G	A	6: 57,926,556	A79V	probably benign	Het
Vmn1r48	G	T	6: 90,036,449	N131K	probably benign	Het
Vmn2r18	A	T	5: 151,584,972	M229K	probably damaging	Het
Zbtb4	G	A	11: 69,776,037	R56K	probably benign	Het
Zfp616	G	T	11: 74,084,362	G486W	probably damaging	Het
Zkscan8	A	T	13: 21,520,410	F453Y	possibly 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
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'- AAGCCAGTCTGCCTGTCTTC -3'
(R):5'- CGAGGTCTGTGATTTGAGAACC -3'

Sequencing Primer
(F):5'- TTTGGAGTGCAAGACCCC -3'
(R):5'- ATAGCTCCTGGCAGGCAG -3'

Posted On

2019-12-20