Mutagenetix > Incidental Mutation

Incidental Mutation 'R6012:Glis2'

479832

Institutional Source

Beutler Lab

Gene Symbol

Glis2

Ensembl Gene

ENSMUSG00000014303

Gene Name

GLIS family zinc finger 2

Synonyms

Nkl

MMRRC Submission

044188-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R6012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4412577-4442788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4429172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 125 (G125D)

Ref Sequence

ENSEMBL: ENSMUSP00000014447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014447] [ENSMUST00000141682]

AlphaFold

Q8VDL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014447
AA Change: G125D

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000014447
Gene: ENSMUSG00000014303
AA Change: G125D

Domain	Start	End	E-Value	Type
low complexity region	46	58	N/A	INTRINSIC
low complexity region	74	100	N/A	INTRINSIC
ZnF_C2H2	168	193	1.05e1	SMART
ZnF_C2H2	202	229	8.09e0	SMART
ZnF_C2H2	235	257	1.82e-3	SMART
ZnF_C2H2	263	287	3.16e-3	SMART
ZnF_C2H2	293	317	1.04e-3	SMART
low complexity region	328	342	N/A	INTRINSIC
low complexity region	358	385	N/A	INTRINSIC
low complexity region	387	402	N/A	INTRINSIC
low complexity region	405	418	N/A	INTRINSIC
low complexity region	420	445	N/A	INTRINSIC
low complexity region	468	475	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135577

Predicted Effect

probably benign
Transcript: ENSMUST00000141682

SMART Domains

Protein: ENSMUSP00000115728
Gene: ENSMUSG00000014303

Domain	Start	End	E-Value	Type
low complexity region	46	58	N/A	INTRINSIC
low complexity region	74	100	N/A	INTRINSIC

Meta Mutation Damage Score

0.0779

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a fusion allele exhibit decreased kidney weight, kidney atrophy, kidney cysts, and interstitial fibrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,400,691 (GRCm39)	Y97N	probably damaging	Het
Adrm1b	C	A	3: 92,336,791 (GRCm39)		probably null	Het
Akr1b10	A	T	6: 34,364,715 (GRCm39)	I59F	probably damaging	Het
Als2	A	T	1: 59,224,374 (GRCm39)	D1076E	probably damaging	Het
Bank1	T	C	3: 135,919,598 (GRCm39)	D266G	probably benign	Het
Bmp2k	T	A	5: 97,211,467 (GRCm39)		probably null	Het
Cdc42bpa	A	G	1: 179,892,655 (GRCm39)	Y273C	probably damaging	Het
Chfr	G	T	5: 110,292,517 (GRCm39)		probably null	Het
Dapk1	A	T	13: 60,909,476 (GRCm39)	Q1363L	probably benign	Het
Ddx23	A	T	15: 98,548,651 (GRCm39)	D352E	possibly damaging	Het
Ect2	T	C	3: 27,152,474 (GRCm39)		probably benign	Het
Efcab10	A	C	12: 33,448,592 (GRCm39)	D107A	probably damaging	Het
Fcgr4	G	A	1: 170,853,233 (GRCm39)	G146D	possibly damaging	Het
Fgd5	A	G	6: 91,966,322 (GRCm39)	T694A	possibly damaging	Het
Ghr	T	C	15: 3,370,409 (GRCm39)	D152G	probably damaging	Het
Gli2	A	C	1: 118,765,445 (GRCm39)	L902R	probably damaging	Het
Gmcl1	A	G	6: 86,698,394 (GRCm39)	Y168H	probably damaging	Het
Golga4	A	G	9: 118,388,764 (GRCm39)	K1962R	possibly damaging	Het
Hebp1	T	A	6: 135,145,055 (GRCm39)	E14V	probably damaging	Het
Hhla1	A	C	15: 65,820,339 (GRCm39)	I137S	probably damaging	Het
Hivep1	A	G	13: 42,337,934 (GRCm39)	H2671R	possibly damaging	Het
Hltf	A	G	3: 20,113,098 (GRCm39)	Y19C	probably damaging	Het
Hsd3b2	A	T	3: 98,619,333 (GRCm39)	M204K	probably benign	Het
Hspa4l	A	T	3: 40,736,031 (GRCm39)	I551F	probably benign	Het
Itpkc	A	T	7: 26,927,490 (GRCm39)	D141E	probably damaging	Het
Kcnc3	A	G	7: 44,248,296 (GRCm39)	D757G	probably benign	Het
Mettl16	A	T	11: 74,678,474 (GRCm39)	Y141F	probably damaging	Het
Mfng	G	A	15: 78,640,840 (GRCm39)	R302C	probably damaging	Het
Mogs	T	A	6: 83,094,363 (GRCm39)	S393R	probably damaging	Het
Mrps28	A	G	3: 8,965,044 (GRCm39)		probably null	Het
Nfat5	T	C	8: 108,093,765 (GRCm39)	S150P	probably benign	Het
Or2w1	T	C	13: 21,316,978 (GRCm39)	V11A	probably benign	Het
Or7d10	A	T	9: 19,832,237 (GRCm39)	H244L	probably damaging	Het
Pcdh12	A	G	18: 38,416,805 (GRCm39)	S107P	probably damaging	Het
Phf21a	G	A	2: 92,182,120 (GRCm39)	D463N	probably damaging	Het
Picalm	A	C	7: 89,844,908 (GRCm39)	I567L	probably benign	Het
Pla2g4a	T	A	1: 149,808,428 (GRCm39)	D5V	possibly damaging	Het
Sspo	C	T	6: 48,428,305 (GRCm39)	T222M	probably benign	Het
Stard9	T	C	2: 120,535,067 (GRCm39)	S3775P	probably damaging	Het
Stk31	A	T	6: 49,446,243 (GRCm39)	D982V	probably damaging	Het
Tas2r113	C	T	6: 132,870,644 (GRCm39)	T224I	probably damaging	Het
Tbc1d15	T	C	10: 115,055,112 (GRCm39)	D310G	probably damaging	Het
Tcf12	G	T	9: 71,766,229 (GRCm39)	T468K	possibly damaging	Het
Tenm4	A	G	7: 96,171,640 (GRCm39)		probably benign	Het
Tet2	A	G	3: 133,172,542 (GRCm39)	Y1907H	possibly damaging	Het
Thsd7a	T	C	6: 12,379,388 (GRCm39)		probably null	Het
Tln1	T	A	4: 43,539,508 (GRCm39)	T1605S	probably benign	Het
Trp53bp1	T	C	2: 121,087,083 (GRCm39)	Y191C	probably benign	Het
Ugcg	T	A	4: 59,220,272 (GRCm39)	I355N	probably damaging	Het
Vmn1r21	A	T	6: 57,820,891 (GRCm39)	D184E	probably damaging	Het
Vsig10l	T	A	7: 43,117,439 (GRCm39)	D575E	probably damaging	Het
Zan	G	A	5: 137,462,791 (GRCm39)	T796I	unknown	Het
Zfp639	A	G	3: 32,573,271 (GRCm39)	D61G	probably damaging	Het

Other mutations in Glis2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Glis2	APN	16	4,429,514 (GRCm39)	missense	probably damaging	1.00
IGL01680:Glis2	APN	16	4,429,195 (GRCm39)	missense	possibly damaging	0.82
IGL02055:Glis2	APN	16	4,431,972 (GRCm39)	unclassified	probably benign
Ginsburg	UTSW	16	4,428,197 (GRCm39)	nonsense	probably null
IGL02802:Glis2	UTSW	16	4,429,735 (GRCm39)	critical splice donor site	probably null
R0081:Glis2	UTSW	16	4,431,517 (GRCm39)	missense	probably benign	0.22
R0517:Glis2	UTSW	16	4,429,416 (GRCm39)	missense	probably damaging	0.98
R2010:Glis2	UTSW	16	4,426,575 (GRCm39)	missense	probably damaging	0.99
R2145:Glis2	UTSW	16	4,431,506 (GRCm39)	missense	possibly damaging	0.79
R3780:Glis2	UTSW	16	4,431,760 (GRCm39)	unclassified	probably benign
R4180:Glis2	UTSW	16	4,429,240 (GRCm39)	missense	probably benign	0.04
R5213:Glis2	UTSW	16	4,431,946 (GRCm39)	unclassified	probably benign
R6052:Glis2	UTSW	16	4,431,603 (GRCm39)	unclassified	probably benign
R6214:Glis2	UTSW	16	4,428,197 (GRCm39)	nonsense	probably null
R6215:Glis2	UTSW	16	4,428,197 (GRCm39)	nonsense	probably null
R6316:Glis2	UTSW	16	4,431,700 (GRCm39)	unclassified	probably benign
R7172:Glis2	UTSW	16	4,431,339 (GRCm39)	missense	probably benign	0.32
R7286:Glis2	UTSW	16	4,429,182 (GRCm39)	missense	possibly damaging	0.93
R7346:Glis2	UTSW	16	4,431,432 (GRCm39)	missense	possibly damaging	0.83
R7816:Glis2	UTSW	16	4,431,328 (GRCm39)	missense	probably damaging	1.00
R9097:Glis2	UTSW	16	4,429,640 (GRCm39)	missense	probably damaging	0.99
R9573:Glis2	UTSW	16	4,429,505 (GRCm39)	missense	probably damaging	1.00
X0020:Glis2	UTSW	16	4,426,517 (GRCm39)	missense	probably damaging	1.00
X0027:Glis2	UTSW	16	4,429,321 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAACTTTCTGTAGACTTGGCTG -3'
(R):5'- AGGGTTCTGAGCCCAAGTAG -3'

Sequencing Primer
(F):5'- AGACTTGGCTGGCCTTAAGATCTAC -3'
(R):5'- CCAAGTAGGGTGCTGCC -3'

Posted On

2017-06-26