Mutagenetix > Incidental Mutation

Incidental Mutation 'R8032:Gli2'

617995

Institutional Source

Beutler Lab

Gene Symbol

Gli2

Ensembl Gene

ENSMUSG00000048402

Gene Name

GLI-Kruppel family member GLI2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8032 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118761862-118981349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118763900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1417 (M1417K)

Ref Sequence

ENSEMBL: ENSMUSP00000054837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062483]

AlphaFold

Q0VGT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000062483
AA Change: M1417K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054837
Gene: ENSMUSG00000048402
AA Change: M1417K

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	36	43	N/A	INTRINSIC
low complexity region	259	278	N/A	INTRINSIC
ZnF_C2H2	417	442	4.98e-1	SMART
ZnF_C2H2	450	477	6.57e0	SMART
ZnF_C2H2	483	507	2.09e-3	SMART
ZnF_C2H2	513	538	4.17e-3	SMART
ZnF_C2H2	544	569	1.84e-4	SMART
low complexity region	637	657	N/A	INTRINSIC
low complexity region	876	890	N/A	INTRINSIC
low complexity region	930	945	N/A	INTRINSIC
low complexity region	1035	1053	N/A	INTRINSIC
low complexity region	1428	1435	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	A	4: 154,751,955 (GRCm39)	E60D	probably benign	Het
Adamts12	T	C	15: 11,259,189 (GRCm39)		probably null	Het
Ak9	T	A	10: 41,300,616 (GRCm39)	C1609S	unknown	Het
Aox1	A	T	1: 58,389,442 (GRCm39)	Y1147F	probably benign	Het
Atf7ip	T	C	6: 136,542,110 (GRCm39)	F615L	probably benign	Het
BC005624	A	G	2: 30,865,901 (GRCm39)		probably null	Het
BC024063	T	A	10: 81,943,738 (GRCm39)	M33K	probably benign	Het
Bmpr2	T	A	1: 59,906,502 (GRCm39)	S532T	probably benign	Het
Cast	G	A	13: 74,883,360 (GRCm39)	Q292*	probably null	Het
Ccdc7a	G	T	8: 129,551,864 (GRCm39)	H1249N	unknown	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Col15a1	T	C	4: 47,288,108 (GRCm39)	I4T	unknown	Het
Cyp2c39	A	G	19: 39,499,426 (GRCm39)	I38V	probably benign	Het
Dmpk	A	G	7: 18,821,978 (GRCm39)	D312G	possibly damaging	Het
Dnah1	T	C	14: 30,993,505 (GRCm39)	D2892G	probably damaging	Het
Dnah10	G	A	5: 124,823,676 (GRCm39)	D566N	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Exd2	T	A	12: 80,536,427 (GRCm39)	D352E	probably benign	Het
Fgf8	A	T	19: 45,725,676 (GRCm39)	L187Q	probably damaging	Het
Frrs1	A	G	3: 116,672,009 (GRCm39)	I36V	probably benign	Het
Gga2	A	T	7: 121,620,210 (GRCm39)		probably null	Het
Gigyf2	C	G	1: 87,334,735 (GRCm39)	H249D	unknown	Het
Gm10801	C	CGTA	2: 98,494,152 (GRCm39)		probably null	Het
Gm49380	A	T	9: 44,023,000 (GRCm39)	I416N	probably damaging	Het
Gpr137	T	C	19: 6,919,480 (GRCm39)	T16A	unknown	Het
Grid1	T	A	14: 35,045,316 (GRCm39)	D386E	probably benign	Het
Grm3	A	G	5: 9,562,272 (GRCm39)	V526A	probably benign	Het
Havcr2	A	T	11: 46,370,118 (GRCm39)	I231F	probably damaging	Het
Icam5	C	A	9: 20,944,514 (GRCm39)	R72S	probably benign	Het
Ighv9-2	T	A	12: 114,072,764 (GRCm39)	I70L	possibly damaging	Het
Inpp5e	C	T	2: 26,286,865 (GRCm39)	S119N		Het
Kash5	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	7: 44,837,608 (GRCm39)		probably benign	Het
Kash5	TCAGGC	TCAGGCACAGGC	7: 44,837,630 (GRCm39)		probably benign	Het
Kxd1	T	A	8: 70,966,791 (GRCm39)	D110V	possibly damaging	Het
Mbd4	A	G	6: 115,821,594 (GRCm39)	S474P	probably damaging	Het
Meaf6	C	A	4: 124,996,795 (GRCm39)	H168Q	unknown	Het
Nek2	T	C	1: 191,558,457 (GRCm39)	L254S	probably damaging	Het
Nhej1	T	C	1: 75,007,959 (GRCm39)	D104G	probably benign	Het
Nmnat3	A	G	9: 98,292,271 (GRCm39)	E172G	probably benign	Het
Npm3	A	T	19: 45,736,682 (GRCm39)	D152E	probably benign	Het
Nsd1	A	T	13: 55,458,196 (GRCm39)	K2103M	probably damaging	Het
Ntrk3	C	T	7: 78,005,807 (GRCm39)	R518H	probably damaging	Het
Nup210	T	A	6: 91,051,331 (GRCm39)	T351S	probably benign	Het
Or10h5	T	A	17: 33,434,924 (GRCm39)	R131S	possibly damaging	Het
Or9g19	A	G	2: 85,600,210 (GRCm39)	I22V	probably benign	Het
Otof	T	A	5: 30,619,142 (GRCm39)	M1L	probably benign	Het
Pacs2	T	A	12: 113,025,278 (GRCm39)	Y477N	probably damaging	Het
Panx3	A	G	9: 37,572,966 (GRCm39)	Y195H	probably damaging	Het
Pcsk5	T	C	19: 17,692,151 (GRCm39)	R178G	probably damaging	Het
Pde7a	A	G	3: 19,314,429 (GRCm39)	S56P	possibly damaging	Het
Prcp	T	G	7: 92,577,906 (GRCm39)	C392G	probably damaging	Het
Prkdc	A	G	16: 15,597,315 (GRCm39)	K2825R	probably benign	Het
Ptpn12	T	C	5: 21,203,041 (GRCm39)	H579R	probably benign	Het
Rbl1	A	T	2: 157,029,918 (GRCm39)	Y468*	probably null	Het
Rbmxl2	A	G	7: 106,809,429 (GRCm39)	Y238C	probably damaging	Het
Scgb2b20	A	T	7: 33,065,724 (GRCm39)	M1K	probably null	Het
Slc25a18	G	A	6: 120,769,452 (GRCm39)	G237D	probably damaging	Het
Slc9a3	G	A	13: 74,305,763 (GRCm39)	G260D	probably damaging	Het
Sorcs1	A	T	19: 50,463,846 (GRCm39)	S201R	probably benign	Het
Strip1	A	C	3: 107,525,394 (GRCm39)	D547E	probably damaging	Het
Thsd7a	C	T	6: 12,555,287 (GRCm39)	C199Y		Het
Top1mt	A	G	15: 75,540,572 (GRCm39)	V233A	probably damaging	Het
Tpp2	C	G	1: 44,014,628 (GRCm39)	P656A	possibly damaging	Het
Ttc1	A	T	11: 43,628,806 (GRCm39)	L193Q	probably damaging	Het
Ttll4	T	A	1: 74,735,632 (GRCm39)	D1013E	possibly damaging	Het
Unc5a	T	C	13: 55,144,299 (GRCm39)	V208A	possibly damaging	Het
Vmn1r185	C	A	7: 26,310,558 (GRCm39)	V316F	probably benign	Het
Vmn2r112	T	A	17: 22,822,375 (GRCm39)	V351E	probably benign	Het
Wdfy4	T	A	14: 32,751,043 (GRCm39)	K2391*	probably null	Het
Zfhx3	T	C	8: 109,677,854 (GRCm39)	V2968A	possibly damaging	Het
Zfp551	G	A	7: 12,152,487 (GRCm39)	A82V	possibly damaging	Het

Other mutations in Gli2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Gli2	APN	1	118,764,621 (GRCm39)	missense	probably benign
IGL01686:Gli2	APN	1	118,776,165 (GRCm39)	missense	probably damaging	1.00
IGL01925:Gli2	APN	1	118,781,106 (GRCm39)	missense	probably damaging	1.00
IGL02106:Gli2	APN	1	118,764,465 (GRCm39)	missense	probably benign
IGL02202:Gli2	APN	1	118,764,596 (GRCm39)	missense	probably damaging	0.96
IGL02255:Gli2	APN	1	118,772,079 (GRCm39)	critical splice donor site	probably null
IGL02437:Gli2	APN	1	118,763,733 (GRCm39)	missense	probably damaging	1.00
IGL02615:Gli2	APN	1	118,772,128 (GRCm39)	missense	probably damaging	1.00
IGL02817:Gli2	APN	1	118,764,101 (GRCm39)	missense	possibly damaging	0.55
IGL03294:Gli2	APN	1	118,765,166 (GRCm39)	missense	probably benign
fairyfly	UTSW	1	118,768,220 (GRCm39)	missense	possibly damaging	0.93
flea	UTSW	1	118,763,655 (GRCm39)	missense	probably damaging	0.99
patu_digua	UTSW	1	118,765,236 (GRCm39)	missense	probably damaging	1.00
BB006:Gli2	UTSW	1	118,769,772 (GRCm39)	missense	possibly damaging	0.88
BB016:Gli2	UTSW	1	118,769,772 (GRCm39)	missense	possibly damaging	0.88
R0055:Gli2	UTSW	1	118,818,138 (GRCm39)	intron	probably benign
R0055:Gli2	UTSW	1	118,818,138 (GRCm39)	intron	probably benign
R0164:Gli2	UTSW	1	118,818,013 (GRCm39)	intron	probably benign
R0233:Gli2	UTSW	1	118,763,655 (GRCm39)	missense	probably damaging	0.99
R0233:Gli2	UTSW	1	118,763,655 (GRCm39)	missense	probably damaging	0.99
R0308:Gli2	UTSW	1	118,769,792 (GRCm39)	missense	probably benign	0.00
R0418:Gli2	UTSW	1	118,768,220 (GRCm39)	missense	possibly damaging	0.93
R0558:Gli2	UTSW	1	118,765,379 (GRCm39)	missense	probably benign	0.01
R0600:Gli2	UTSW	1	118,768,119 (GRCm39)	missense	probably damaging	1.00
R0630:Gli2	UTSW	1	118,769,648 (GRCm39)	missense	possibly damaging	0.52
R0690:Gli2	UTSW	1	118,772,190 (GRCm39)	missense	probably damaging	1.00
R0942:Gli2	UTSW	1	118,765,236 (GRCm39)	missense	probably damaging	1.00
R1061:Gli2	UTSW	1	118,782,247 (GRCm39)	missense	possibly damaging	0.71
R1104:Gli2	UTSW	1	118,781,080 (GRCm39)	missense	probably damaging	1.00
R1141:Gli2	UTSW	1	118,765,667 (GRCm39)	missense	possibly damaging	0.71
R1344:Gli2	UTSW	1	118,769,666 (GRCm39)	missense	probably damaging	0.98
R1418:Gli2	UTSW	1	118,769,666 (GRCm39)	missense	probably damaging	0.98
R1565:Gli2	UTSW	1	118,769,660 (GRCm39)	missense	possibly damaging	0.57
R1605:Gli2	UTSW	1	118,782,290 (GRCm39)	missense	probably damaging	1.00
R1640:Gli2	UTSW	1	118,764,254 (GRCm39)	missense	possibly damaging	0.83
R1728:Gli2	UTSW	1	118,929,774 (GRCm39)	missense	probably benign	0.00
R1728:Gli2	UTSW	1	118,795,817 (GRCm39)	missense	possibly damaging	0.68
R1729:Gli2	UTSW	1	118,929,774 (GRCm39)	missense	probably benign	0.00
R1729:Gli2	UTSW	1	118,795,817 (GRCm39)	missense	possibly damaging	0.68
R1730:Gli2	UTSW	1	118,929,774 (GRCm39)	missense	probably benign	0.00
R1730:Gli2	UTSW	1	118,795,817 (GRCm39)	missense	possibly damaging	0.68
R1739:Gli2	UTSW	1	118,929,774 (GRCm39)	missense	probably benign	0.00
R1739:Gli2	UTSW	1	118,795,817 (GRCm39)	missense	possibly damaging	0.68
R1762:Gli2	UTSW	1	118,929,774 (GRCm39)	missense	probably benign	0.00
R1762:Gli2	UTSW	1	118,795,817 (GRCm39)	missense	possibly damaging	0.68
R1783:Gli2	UTSW	1	118,929,774 (GRCm39)	missense	probably benign	0.00
R1783:Gli2	UTSW	1	118,795,817 (GRCm39)	missense	possibly damaging	0.68
R1785:Gli2	UTSW	1	118,929,774 (GRCm39)	missense	probably benign	0.00
R1785:Gli2	UTSW	1	118,795,817 (GRCm39)	missense	possibly damaging	0.68
R1874:Gli2	UTSW	1	118,929,779 (GRCm39)	missense	possibly damaging	0.83
R1969:Gli2	UTSW	1	118,765,430 (GRCm39)	missense	probably benign	0.00
R2199:Gli2	UTSW	1	118,765,378 (GRCm39)	missense	possibly damaging	0.95
R2377:Gli2	UTSW	1	118,764,855 (GRCm39)	missense	possibly damaging	0.90
R2883:Gli2	UTSW	1	118,795,874 (GRCm39)	missense	probably damaging	0.97
R2924:Gli2	UTSW	1	118,764,089 (GRCm39)	missense	probably benign	0.00
R4363:Gli2	UTSW	1	118,781,100 (GRCm39)	missense	probably benign	0.00
R4430:Gli2	UTSW	1	118,764,974 (GRCm39)	missense	probably benign
R4463:Gli2	UTSW	1	118,763,738 (GRCm39)	missense	probably damaging	1.00
R4583:Gli2	UTSW	1	118,769,798 (GRCm39)	missense	probably benign
R4613:Gli2	UTSW	1	118,765,241 (GRCm39)	missense	probably damaging	1.00
R4674:Gli2	UTSW	1	118,763,759 (GRCm39)	missense	probably damaging	1.00
R4735:Gli2	UTSW	1	118,768,052 (GRCm39)	missense	probably damaging	1.00
R4770:Gli2	UTSW	1	118,910,318 (GRCm39)	intron	probably benign
R4936:Gli2	UTSW	1	118,763,870 (GRCm39)	missense	probably benign
R5137:Gli2	UTSW	1	118,783,233 (GRCm39)	missense	probably damaging	1.00
R5228:Gli2	UTSW	1	118,763,936 (GRCm39)	missense	probably damaging	1.00
R5318:Gli2	UTSW	1	118,772,200 (GRCm39)	missense	probably damaging	1.00
R5619:Gli2	UTSW	1	118,764,485 (GRCm39)	missense	probably benign	0.27
R5661:Gli2	UTSW	1	118,781,032 (GRCm39)	nonsense	probably null
R6005:Gli2	UTSW	1	118,769,794 (GRCm39)	missense	probably damaging	1.00
R6012:Gli2	UTSW	1	118,765,445 (GRCm39)	missense	probably damaging	0.99
R6341:Gli2	UTSW	1	118,763,954 (GRCm39)	missense	probably damaging	1.00
R6357:Gli2	UTSW	1	118,769,689 (GRCm39)	missense	probably damaging	1.00
R6425:Gli2	UTSW	1	118,763,624 (GRCm39)	nonsense	probably null
R6513:Gli2	UTSW	1	118,783,284 (GRCm39)	missense	probably damaging	1.00
R6802:Gli2	UTSW	1	118,769,795 (GRCm39)	missense	probably damaging	1.00
R6889:Gli2	UTSW	1	118,772,146 (GRCm39)	missense	probably damaging	1.00
R7259:Gli2	UTSW	1	118,764,264 (GRCm39)	missense	probably benign
R7378:Gli2	UTSW	1	118,776,222 (GRCm39)	missense	probably damaging	1.00
R7420:Gli2	UTSW	1	118,763,669 (GRCm39)	missense	probably benign	0.00
R7489:Gli2	UTSW	1	118,765,905 (GRCm39)	missense	probably benign	0.00
R7498:Gli2	UTSW	1	118,763,565 (GRCm39)	missense	possibly damaging	0.89
R7929:Gli2	UTSW	1	118,769,772 (GRCm39)	missense	possibly damaging	0.88
R8150:Gli2	UTSW	1	118,763,558 (GRCm39)	missense	probably damaging	0.99
R8233:Gli2	UTSW	1	118,772,167 (GRCm39)	missense	probably damaging	1.00
R8282:Gli2	UTSW	1	118,765,701 (GRCm39)	missense	probably damaging	1.00
R8312:Gli2	UTSW	1	118,795,842 (GRCm39)	intron	probably benign
R8686:Gli2	UTSW	1	118,764,417 (GRCm39)	missense	probably benign
R8698:Gli2	UTSW	1	118,769,887 (GRCm39)	missense	probably damaging	1.00
R8935:Gli2	UTSW	1	118,764,122 (GRCm39)	missense	probably damaging	1.00
R8938:Gli2	UTSW	1	118,763,935 (GRCm39)	missense	probably damaging	1.00
R8955:Gli2	UTSW	1	118,783,187 (GRCm39)	missense	probably damaging	1.00
R9214:Gli2	UTSW	1	118,795,791 (GRCm39)	missense	probably damaging	1.00
R9232:Gli2	UTSW	1	118,764,021 (GRCm39)	missense	probably benign	0.00
R9295:Gli2	UTSW	1	118,764,996 (GRCm39)	missense	probably damaging	1.00
R9369:Gli2	UTSW	1	118,765,885 (GRCm39)	missense	probably benign	0.04
R9496:Gli2	UTSW	1	118,764,425 (GRCm39)	missense	probably benign	0.00
R9757:Gli2	UTSW	1	118,773,652 (GRCm39)	missense	probably damaging	1.00
X0028:Gli2	UTSW	1	118,765,007 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATGATGGCATCAAAGTCAATC -3'
(R):5'- TTTGGTCTCATGCAGCCTCG -3'

Sequencing Primer
(F):5'- TGGCATCAAAGTCAATCTGGGG -3'
(R):5'- GGAGTACGTTCTGGGCAAC -3'

Posted On

2020-01-23