Mutagenetix > Incidental Mutation

Incidental Mutation 'R4921:Glis3'

378656

Institutional Source

Beutler Lab

Gene Symbol

Glis3

Ensembl Gene

ENSMUSG00000052942

Gene Name

GLIS family zinc finger 3

Synonyms

E330013K21Rik, 4833409N03Rik

MMRRC Submission

042523-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

R4921 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

28258851-28680077 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28666104 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 13 (T13A)

Ref Sequence

ENSEMBL: ENSMUSP00000108231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065113] [ENSMUST00000112612] [ENSMUST00000159178] [ENSMUST00000160376] [ENSMUST00000161328] [ENSMUST00000162022]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065113
AA Change: T13A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066953
Gene: ENSMUSG00000052942
AA Change: T13A

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112612
AA Change: T13A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108231
Gene: ENSMUSG00000052942
AA Change: T13A

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC
low complexity region	203	222	N/A	INTRINSIC
low complexity region	438	476	N/A	INTRINSIC
ZnF_C2H2	500	525	1.07e0	SMART
ZnF_C2H2	534	561	6.13e-1	SMART
ZnF_C2H2	567	591	3.89e-3	SMART
ZnF_C2H2	597	621	1.45e-2	SMART
ZnF_C2H2	627	651	9.08e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159178
AA Change: T13A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124823
Gene: ENSMUSG00000052942
AA Change: T13A

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC
low complexity region	203	222	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160376
AA Change: T13A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124143
Gene: ENSMUSG00000052942
AA Change: T13A

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161328
AA Change: T13A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125721
Gene: ENSMUSG00000052942
AA Change: T13A

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC
low complexity region	203	222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162022
AA Change: T13A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000124635
Gene: ENSMUSG00000052942
AA Change: T13A

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC
low complexity region	203	222	N/A	INTRINSIC
low complexity region	438	476	N/A	INTRINSIC
ZnF_C2H2	500	525	1.07e0	SMART
ZnF_C2H2	534	561	6.13e-1	SMART
ZnF_C2H2	567	591	3.89e-3	SMART
ZnF_C2H2	597	621	1.45e-2	SMART
ZnF_C2H2	627	651	9.08e-4	SMART
low complexity region	700	709	N/A	INTRINSIC
low complexity region	722	746	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein which contains multiple C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the transcriptional regulation of insulin. It is thought to enhance GLI-RE-dependent transcription by binding to the GLI-RE consensus sequence (GACCACCCAC). Mutations in a similar gene in human have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit postnatal lethality associated with neonatal diabetes and polycystic kidney disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,737,796 (GRCm38)	N65K	probably benign	Het
Abcc9	T	C	6: 142,590,436 (GRCm38)	Y1524C	probably benign	Het
Acap1	A	G	11: 69,887,193 (GRCm38)	I102T	probably damaging	Het
Acvr2a	T	C	2: 48,893,541 (GRCm38)	V284A	possibly damaging	Het
Adam3	T	C	8: 24,684,614 (GRCm38)	M712V	probably benign	Het
Adck1	T	C	12: 88,441,138 (GRCm38)	V213A	probably benign	Het
Adgrl3	G	T	5: 81,512,110 (GRCm38)	W242L	probably damaging	Het
Alk	T	C	17: 71,904,315 (GRCm38)	T857A	probably benign	Het
Alms1	A	G	6: 85,628,546 (GRCm38)	T2393A	probably benign	Het
Ank3	C	T	10: 70,002,109 (GRCm38)	P240L	probably damaging	Het
Ankrd35	C	A	3: 96,684,824 (GRCm38)	L809M	possibly damaging	Het
Birc6	T	A	17: 74,650,099 (GRCm38)	L3690Q	probably damaging	Het
Bmp3	C	A	5: 98,872,061 (GRCm38)	F114L	probably damaging	Het
Cage1	G	A	13: 38,019,208 (GRCm38)	H627Y	probably benign	Het
Cars	T	C	7: 143,569,475 (GRCm38)	D468G	probably damaging	Het
Ccdc148	T	C	2: 58,829,802 (GRCm38)	E487G	probably damaging	Het
Ccdc80	A	T	16: 45,118,167 (GRCm38)	I746F	probably damaging	Het
Ccl25	A	G	8: 4,353,913 (GRCm38)	Q119R	possibly damaging	Het
Cdh24	C	T	14: 54,633,215 (GRCm38)	D178N	probably damaging	Het
Cdk12	A	T	11: 98,222,687 (GRCm38)	T766S	unknown	Het
Chst15	T	A	7: 132,247,884 (GRCm38)	T443S	probably benign	Het
Cnbp	T	C	6: 87,845,146 (GRCm38)	D125G	possibly damaging	Het
Cntn2	A	T	1: 132,516,032 (GRCm38)	V1003E	possibly damaging	Het
Crct1	A	G	3: 93,014,825 (GRCm38)		probably benign	Het
Dand5	C	T	8: 84,816,484 (GRCm38)	C121Y	probably damaging	Het
Dmkn	A	T	7: 30,771,233 (GRCm38)	D382V	probably damaging	Het
Dnase2b	T	A	3: 146,593,441 (GRCm38)	T86S	probably damaging	Het
Dusp8	GCCACCACCACCACCACCACCACC	GCCACCACCACCACCACCACC	7: 142,082,154 (GRCm38)		probably benign	Het
Eef1akmt1	C	T	14: 57,550,632 (GRCm38)	V90M	probably damaging	Het
Egfl7	G	T	2: 26,590,980 (GRCm38)	W168L	probably benign	Het
Ep400	A	G	5: 110,665,810 (GRCm38)	C2908R	probably damaging	Het
Espl1	A	G	15: 102,315,241 (GRCm38)	K1076E	probably damaging	Het
Exoc4	A	G	6: 33,910,517 (GRCm38)	N747D	probably benign	Het
Fancm	T	C	12: 65,077,141 (GRCm38)	V191A	probably benign	Het
Fbxo17	A	G	7: 28,732,789 (GRCm38)	D97G	probably benign	Het
Fer1l6	G	T	15: 58,600,311 (GRCm38)		probably null	Het
Flt4	T	C	11: 49,627,143 (GRCm38)	W337R	probably damaging	Het
Fpr-rs7	T	C	17: 20,113,820 (GRCm38)	H136R	possibly damaging	Het
Frem3	T	A	8: 80,613,136 (GRCm38)	I686N	possibly damaging	Het
Galnt9	A	G	5: 110,577,449 (GRCm38)	K84R	probably damaging	Het
Gfm2	T	A	13: 97,175,676 (GRCm38)	M760K	probably damaging	Het
Gm13078	A	T	4: 143,728,326 (GRCm38)	K398M	possibly damaging	Het
H2-K1	A	G	17: 33,997,076 (GRCm38)	V323A	possibly damaging	Het
Hbb-bs	G	A	7: 103,826,720 (GRCm38)	A130V	probably damaging	Het
Herc2	T	A	7: 56,229,690 (GRCm38)	H4685Q	probably benign	Het
Ighv5-9-1	C	T	12: 113,736,294 (GRCm38)	R56H	possibly damaging	Het
Itgb4	A	G	11: 116,006,605 (GRCm38)	N1548S	probably benign	Het
Itpr3	T	C	17: 27,098,005 (GRCm38)	Y745H	probably damaging	Het
Kank3	G	T	17: 33,817,200 (GRCm38)	G14V	probably damaging	Het
Kif24	G	T	4: 41,394,329 (GRCm38)	S982Y	probably damaging	Het
Kifc5b	C	T	17: 26,921,023 (GRCm38)	R53W	probably damaging	Het
Krt39	A	G	11: 99,514,749 (GRCm38)	S442P	possibly damaging	Het
Lcat	G	A	8: 105,942,442 (GRCm38)	P67L	possibly damaging	Het
Maml2	T	C	9: 13,621,175 (GRCm38)	S562P	probably damaging	Het
Map3k8	G	A	18: 4,349,124 (GRCm38)	R65W	possibly damaging	Het
Mbd3	G	T	10: 80,395,576 (GRCm38)	R12S	probably damaging	Het
Msr1	T	C	8: 39,624,251 (GRCm38)	E106G	possibly damaging	Het
Myh4	T	A	11: 67,254,028 (GRCm38)	L1256Q	probably damaging	Het
Mypn	G	A	10: 63,147,936 (GRCm38)	T511M	possibly damaging	Het
Nub1	A	T	5: 24,701,469 (GRCm38)	N331I	probably benign	Het
Nup107	A	G	10: 117,770,511 (GRCm38)	V440A	possibly damaging	Het
Ofcc1	A	G	13: 40,214,517 (GRCm38)	F174L	probably benign	Het
Olfr1497	T	C	19: 13,795,465 (GRCm38)	I49V	probably benign	Het
Olfr597	A	T	7: 103,320,543 (GRCm38)	N44I	probably damaging	Het
Olfr975	A	C	9: 39,950,225 (GRCm38)	V182G	probably damaging	Het
Parp2	C	A	14: 50,819,268 (GRCm38)	L310I	probably damaging	Het
Pcdh20	A	G	14: 88,469,726 (GRCm38)	V46A	probably benign	Het
Pcdhgb6	A	G	18: 37,743,472 (GRCm38)	D411G	probably damaging	Het
Pkd1l2	A	T	8: 117,072,549 (GRCm38)	N267K	probably damaging	Het
Pkd1l2	T	C	8: 117,054,885 (GRCm38)	E807G	probably benign	Het
Rell1	C	A	5: 63,936,033 (GRCm38)	M126I	probably damaging	Het
Robo4	G	A	9: 37,402,560 (GRCm38)	E36K	probably benign	Het
Rpgrip1l	T	C	8: 91,261,009 (GRCm38)	S807G	probably benign	Het
Rpl10a	T	C	17: 28,330,852 (GRCm38)	V169A	probably benign	Het
Rubcn	C	T	16: 32,847,294 (GRCm38)	V166I	probably damaging	Het
Sall2	T	C	14: 52,315,393 (GRCm38)	E113G	possibly damaging	Het
Sars2	T	C	7: 28,752,438 (GRCm38)	S423P	possibly damaging	Het
Scaper	A	G	9: 55,892,235 (GRCm38)	I182T	probably benign	Het
Selp	A	G	1: 164,141,397 (GRCm38)	D522G	possibly damaging	Het
Sema4b	T	A	7: 80,198,756 (GRCm38)	I35N	possibly damaging	Het
Sgce	A	T	6: 4,694,153 (GRCm38)	F268I	probably damaging	Het
Slc14a2	G	T	18: 78,192,188 (GRCm38)	A258E	probably damaging	Het
Slc17a9	T	C	2: 180,735,949 (GRCm38)	Y213H	probably benign	Het
Slc22a7	T	G	17: 46,436,933 (GRCm38)	I233L	probably benign	Het
Slc35f1	A	G	10: 53,062,602 (GRCm38)	Q210R	probably damaging	Het
Slc6a21	A	G	7: 45,288,310 (GRCm38)	E350G	possibly damaging	Het
Spata21	A	T	4: 141,112,091 (GRCm38)	D639V	probably damaging	Het
Svil	A	G	18: 5,108,631 (GRCm38)	D1519G	probably damaging	Het
Tbccd1	T	C	16: 22,841,899 (GRCm38)	T56A	probably benign	Het
Tigit	A	T	16: 43,662,017 (GRCm38)	I118N	probably damaging	Het
Tlr11	A	T	14: 50,362,885 (GRCm38)	Q776L	possibly damaging	Het
Tspan12	A	C	6: 21,835,449 (GRCm38)	I9S	possibly damaging	Het
Unc5c	T	A	3: 141,788,966 (GRCm38)	Y347N	probably damaging	Het
Unk	A	G	11: 116,054,945 (GRCm38)	T481A	probably benign	Het
Vmn1r192	A	C	13: 22,187,480 (GRCm38)	V190G	probably damaging	Het
Vnn3	A	T	10: 23,864,575 (GRCm38)	M259L	probably benign	Het
Zan	T	C	5: 137,408,370 (GRCm38)		probably benign	Het
Zdhhc6	T	C	19: 55,313,210 (GRCm38)	H113R	probably damaging	Het

Other mutations in Glis3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Glis3	APN	19	28,540,264 (GRCm38)	missense	probably damaging	1.00
IGL02240:Glis3	APN	19	28,531,525 (GRCm38)	missense	probably damaging	1.00
IGL02347:Glis3	APN	19	28,531,883 (GRCm38)	missense	probably benign
IGL02904:Glis3	APN	19	28,357,952 (GRCm38)	missense	possibly damaging	0.58
glee	UTSW	19	28,262,677 (GRCm38)	utr 3 prime	probably benign
R0071:Glis3	UTSW	19	28,263,855 (GRCm38)	splice site	probably benign
R0071:Glis3	UTSW	19	28,263,855 (GRCm38)	splice site	probably benign
R0106:Glis3	UTSW	19	28,531,868 (GRCm38)	missense	possibly damaging	0.67
R0106:Glis3	UTSW	19	28,531,868 (GRCm38)	missense	possibly damaging	0.67
R0399:Glis3	UTSW	19	28,298,768 (GRCm38)	splice site	probably benign
R1462:Glis3	UTSW	19	28,262,518 (GRCm38)	utr 3 prime	probably benign
R1901:Glis3	UTSW	19	28,531,585 (GRCm38)	missense	probably damaging	1.00
R1976:Glis3	UTSW	19	28,262,677 (GRCm38)	utr 3 prime	probably benign
R1982:Glis3	UTSW	19	28,531,274 (GRCm38)	missense	probably damaging	1.00
R2155:Glis3	UTSW	19	28,531,302 (GRCm38)	missense	probably benign	0.16
R3723:Glis3	UTSW	19	28,262,591 (GRCm38)	nonsense	probably null
R4496:Glis3	UTSW	19	28,666,127 (GRCm38)	missense	possibly damaging	0.90
R5088:Glis3	UTSW	19	28,531,579 (GRCm38)	missense	probably benign	0.00
R5241:Glis3	UTSW	19	28,350,023 (GRCm38)	missense	probably benign	0.02
R5557:Glis3	UTSW	19	28,264,009 (GRCm38)	missense	probably benign	0.00
R6226:Glis3	UTSW	19	28,317,302 (GRCm38)	missense	probably damaging	1.00
R6309:Glis3	UTSW	19	28,317,361 (GRCm38)	missense	probably benign	0.24
R6488:Glis3	UTSW	19	28,298,853 (GRCm38)	missense	probably benign	0.13
R7069:Glis3	UTSW	19	28,531,519 (GRCm38)	missense	probably damaging	1.00
R7260:Glis3	UTSW	19	28,531,402 (GRCm38)	missense	probably benign
R7313:Glis3	UTSW	19	28,531,019 (GRCm38)	missense	probably damaging	1.00
R7320:Glis3	UTSW	19	28,531,598 (GRCm38)	missense	probably damaging	1.00
R7767:Glis3	UTSW	19	28,263,960 (GRCm38)	missense	probably benign	0.18
R7839:Glis3	UTSW	19	28,317,373 (GRCm38)	missense	possibly damaging	0.81
R8133:Glis3	UTSW	19	28,350,006 (GRCm38)	missense	probably benign	0.00
R8937:Glis3	UTSW	19	28,665,866 (GRCm38)	missense	possibly damaging	0.47
R9184:Glis3	UTSW	19	28,531,607 (GRCm38)	missense	probably damaging	1.00
R9484:Glis3	UTSW	19	28,531,003 (GRCm38)	missense	probably damaging	1.00
T0970:Glis3	UTSW	19	28,530,932 (GRCm38)	missense	probably damaging	1.00
Z1176:Glis3	UTSW	19	28,283,768 (GRCm38)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- ATTGGCGAGTAACTGTCTCCTG -3'
(R):5'- ACGAGTTGAAAACTTTCTGGATCTC -3'

Sequencing Primer
(F):5'- TAACTGTCTCCTGGGGCTCAG -3'
(R):5'- GAAAACTTTCTGGATCTCATTTTCAC -3'

Posted On

2016-04-15