Mutagenetix > Incidental Mutation

Incidental Mutation 'R6889:Gli2'

537081

Institutional Source

Beutler Lab

Gene Symbol

Gli2

Ensembl Gene

ENSMUSG00000048402

Gene Name

GLI-Kruppel family member GLI2

Synonyms

MMRRC Submission

044983-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6889 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118834132-119053619 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118844416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 520 (C520S)

Ref Sequence

ENSEMBL: ENSMUSP00000054837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062483] [ENSMUST00000159839] [ENSMUST00000160991] [ENSMUST00000161056] [ENSMUST00000161301] [ENSMUST00000161451] [ENSMUST00000162552] [ENSMUST00000162607]

AlphaFold

Q0VGT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000062483
AA Change: C520S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054837
Gene: ENSMUSG00000048402
AA Change: C520S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159839

SMART Domains

Protein: ENSMUSP00000125661
Gene: ENSMUSG00000048402

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	36	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160991

Predicted Effect

probably benign
Transcript: ENSMUST00000161056

SMART Domains

Protein: ENSMUSP00000124768
Gene: ENSMUSG00000048402

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	36	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161301

SMART Domains

Protein: ENSMUSP00000125342
Gene: ENSMUSG00000048402

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	58	72	N/A	INTRINSIC
low complexity region	296	315	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161451

SMART Domains

Protein: ENSMUSP00000124132
Gene: ENSMUSG00000048402

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	94	113	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162552

SMART Domains

Protein: ENSMUSP00000125059
Gene: ENSMUSG00000048402

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	36	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162607

SMART Domains

Protein: ENSMUSP00000123808
Gene: ENSMUSG00000048402

Domain	Start	End	E-Value	Type
low complexity region	120	139	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,943,053 (GRCm38)	D103E	probably benign	Het
Abcc3	A	T	11: 94,375,555 (GRCm38)	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 101,029,183 (GRCm38)	Y214C	possibly damaging	Het
Azi2	A	G	9: 118,049,895 (GRCm38)		probably null	Het
BC067074	C	A	13: 113,318,378 (GRCm38)	S319R	probably damaging	Het
Cacnb2	T	A	2: 14,986,015 (GRCm38)	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,374,562 (GRCm38)	T169P	probably damaging	Het
Cfap44	G	A	16: 44,404,132 (GRCm38)	V68I	probably benign	Het
Eea1	G	T	10: 96,037,478 (GRCm38)	C1134F	probably benign	Het
Ehmt2	T	G	17: 34,912,772 (GRCm38)	F1192V	probably damaging	Het
Emc1	T	C	4: 139,365,350 (GRCm38)	F531L	probably damaging	Het
Eme1	G	A	11: 94,650,477 (GRCm38)	T173I	probably benign	Het
Gm43302	T	C	5: 105,280,138 (GRCm38)	K186E	probably benign	Het
Gpr108	A	T	17: 57,236,990 (GRCm38)	N405K	probably damaging	Het
Hmgcl	C	A	4: 135,955,642 (GRCm38)	T135N	probably benign	Het
Hydin	G	A	8: 110,532,856 (GRCm38)	D2487N	possibly damaging	Het
Igfl3	G	T	7: 18,179,800 (GRCm38)	R25L	probably benign	Het
Igsf10	A	C	3: 59,331,933 (GRCm38)	S276A	probably benign	Het
Kctd1	A	G	18: 14,973,988 (GRCm38)	S211P	probably damaging	Het
Kctd7	A	T	5: 130,152,501 (GRCm38)	Q255L	probably benign	Het
Lrig1	A	G	6: 94,625,063 (GRCm38)	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,809,744 (GRCm38)		probably benign	Het
Myh15	A	G	16: 49,153,111 (GRCm38)	N1248S	possibly damaging	Het
Nod1	A	G	6: 54,944,109 (GRCm38)	F408S	probably benign	Het
Nrp1	T	C	8: 128,493,057 (GRCm38)	F652S	probably damaging	Het
Olfr1338	G	A	4: 118,754,307 (GRCm38)	T79I	probably damaging	Het
Olfr487	A	T	7: 108,211,918 (GRCm38)	F204I	probably benign	Het
Olfr574	A	T	7: 102,948,768 (GRCm38)	H91L	possibly damaging	Het
Olfr821	T	C	10: 130,034,532 (GRCm38)	M302T	probably benign	Het
Opa1	G	T	16: 29,620,868 (GRCm38)	R792L	probably benign	Het
Pcdha6	G	T	18: 36,968,343 (GRCm38)	L196F	probably damaging	Het
Pdia2	A	T	17: 26,196,970 (GRCm38)	Y347*	probably null	Het
Pdpr	G	T	8: 111,124,613 (GRCm38)		probably null	Het
Pigt	T	A	2: 164,507,331 (GRCm38)	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,737,981 (GRCm38)	D591A	possibly damaging	Het
Prrg2	G	A	7: 45,059,989 (GRCm38)	T97M	possibly damaging	Het
Qars	A	G	9: 108,513,183 (GRCm38)	T428A	probably damaging	Het
Rai1	T	C	11: 60,185,715 (GRCm38)	F202L	probably damaging	Het
Rars	A	T	11: 35,808,486 (GRCm38)	M660K	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,925 (GRCm38)		probably benign	Het
Slc16a6	A	C	11: 109,455,040 (GRCm38)	F382V	probably damaging	Het
Slc30a7	T	C	3: 115,954,153 (GRCm38)	T330A	probably damaging	Het
Smc1b	A	T	15: 85,067,759 (GRCm38)	L1157Q	probably damaging	Het
Snx4	G	T	16: 33,251,470 (GRCm38)	A4S	possibly damaging	Het
Sv2b	A	C	7: 75,125,767 (GRCm38)		probably null	Het
Syt9	A	T	7: 107,425,286 (GRCm38)	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,773,353 (GRCm38)	E198G	probably damaging	Het
Ubr3	A	T	2: 69,944,300 (GRCm38)	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,797,871 (GRCm38)	C3286S	probably damaging	Het
Vill	A	G	9: 119,065,882 (GRCm38)	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,747,370 (GRCm38)	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,117,267 (GRCm38)	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,472,574 (GRCm38)	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,601,142 (GRCm38)	V197A	probably benign	Het
Wasf1	A	T	10: 40,920,369 (GRCm38)	I32F	probably damaging	Het
Wasf2	G	T	4: 133,194,730 (GRCm38)	A387S	unknown	Het
Wdr92	G	A	11: 17,222,309 (GRCm38)	V133M	probably damaging	Het
Zbtb14	G	A	17: 69,387,679 (GRCm38)	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671 (GRCm38)	A37S	probably damaging	Het
Zfp532	A	G	18: 65,686,990 (GRCm38)	E882G	possibly damaging	Het

Other mutations in Gli2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Gli2	APN	1	118,836,891 (GRCm38)	missense	probably benign
IGL01686:Gli2	APN	1	118,848,435 (GRCm38)	missense	probably damaging	1.00
IGL01925:Gli2	APN	1	118,853,376 (GRCm38)	missense	probably damaging	1.00
IGL02106:Gli2	APN	1	118,836,735 (GRCm38)	missense	probably benign
IGL02202:Gli2	APN	1	118,836,866 (GRCm38)	missense	probably damaging	0.96
IGL02255:Gli2	APN	1	118,844,349 (GRCm38)	critical splice donor site	probably null
IGL02437:Gli2	APN	1	118,836,003 (GRCm38)	missense	probably damaging	1.00
IGL02615:Gli2	APN	1	118,844,398 (GRCm38)	missense	probably damaging	1.00
IGL02817:Gli2	APN	1	118,836,371 (GRCm38)	missense	possibly damaging	0.55
IGL03294:Gli2	APN	1	118,837,436 (GRCm38)	missense	probably benign
fairyfly	UTSW	1	118,840,490 (GRCm38)	missense	possibly damaging	0.93
flea	UTSW	1	118,835,925 (GRCm38)	missense	probably damaging	0.99
patu_digua	UTSW	1	118,837,506 (GRCm38)	missense	probably damaging	1.00
BB006:Gli2	UTSW	1	118,842,042 (GRCm38)	missense	possibly damaging	0.88
BB016:Gli2	UTSW	1	118,842,042 (GRCm38)	missense	possibly damaging	0.88
R0055:Gli2	UTSW	1	118,890,408 (GRCm38)	intron	probably benign
R0055:Gli2	UTSW	1	118,890,408 (GRCm38)	intron	probably benign
R0164:Gli2	UTSW	1	118,890,283 (GRCm38)	intron	probably benign
R0233:Gli2	UTSW	1	118,835,925 (GRCm38)	missense	probably damaging	0.99
R0233:Gli2	UTSW	1	118,835,925 (GRCm38)	missense	probably damaging	0.99
R0308:Gli2	UTSW	1	118,842,062 (GRCm38)	missense	probably benign	0.00
R0418:Gli2	UTSW	1	118,840,490 (GRCm38)	missense	possibly damaging	0.93
R0558:Gli2	UTSW	1	118,837,649 (GRCm38)	missense	probably benign	0.01
R0600:Gli2	UTSW	1	118,840,389 (GRCm38)	missense	probably damaging	1.00
R0630:Gli2	UTSW	1	118,841,918 (GRCm38)	missense	possibly damaging	0.52
R0690:Gli2	UTSW	1	118,844,460 (GRCm38)	missense	probably damaging	1.00
R0942:Gli2	UTSW	1	118,837,506 (GRCm38)	missense	probably damaging	1.00
R1061:Gli2	UTSW	1	118,854,517 (GRCm38)	missense	possibly damaging	0.71
R1104:Gli2	UTSW	1	118,853,350 (GRCm38)	missense	probably damaging	1.00
R1141:Gli2	UTSW	1	118,837,937 (GRCm38)	missense	possibly damaging	0.71
R1344:Gli2	UTSW	1	118,841,936 (GRCm38)	missense	probably damaging	0.98
R1418:Gli2	UTSW	1	118,841,936 (GRCm38)	missense	probably damaging	0.98
R1565:Gli2	UTSW	1	118,841,930 (GRCm38)	missense	possibly damaging	0.57
R1605:Gli2	UTSW	1	118,854,560 (GRCm38)	missense	probably damaging	1.00
R1640:Gli2	UTSW	1	118,836,524 (GRCm38)	missense	possibly damaging	0.83
R1728:Gli2	UTSW	1	119,002,044 (GRCm38)	missense	probably benign	0.00
R1728:Gli2	UTSW	1	118,868,087 (GRCm38)	missense	possibly damaging	0.68
R1729:Gli2	UTSW	1	119,002,044 (GRCm38)	missense	probably benign	0.00
R1729:Gli2	UTSW	1	118,868,087 (GRCm38)	missense	possibly damaging	0.68
R1730:Gli2	UTSW	1	119,002,044 (GRCm38)	missense	probably benign	0.00
R1730:Gli2	UTSW	1	118,868,087 (GRCm38)	missense	possibly damaging	0.68
R1739:Gli2	UTSW	1	119,002,044 (GRCm38)	missense	probably benign	0.00
R1739:Gli2	UTSW	1	118,868,087 (GRCm38)	missense	possibly damaging	0.68
R1762:Gli2	UTSW	1	119,002,044 (GRCm38)	missense	probably benign	0.00
R1762:Gli2	UTSW	1	118,868,087 (GRCm38)	missense	possibly damaging	0.68
R1783:Gli2	UTSW	1	119,002,044 (GRCm38)	missense	probably benign	0.00
R1783:Gli2	UTSW	1	118,868,087 (GRCm38)	missense	possibly damaging	0.68
R1785:Gli2	UTSW	1	119,002,044 (GRCm38)	missense	probably benign	0.00
R1785:Gli2	UTSW	1	118,868,087 (GRCm38)	missense	possibly damaging	0.68
R1874:Gli2	UTSW	1	119,002,049 (GRCm38)	missense	possibly damaging	0.83
R1969:Gli2	UTSW	1	118,837,700 (GRCm38)	missense	probably benign	0.00
R2199:Gli2	UTSW	1	118,837,648 (GRCm38)	missense	possibly damaging	0.95
R2377:Gli2	UTSW	1	118,837,125 (GRCm38)	missense	possibly damaging	0.90
R2883:Gli2	UTSW	1	118,868,144 (GRCm38)	missense	probably damaging	0.97
R2924:Gli2	UTSW	1	118,836,359 (GRCm38)	missense	probably benign	0.00
R4363:Gli2	UTSW	1	118,853,370 (GRCm38)	missense	probably benign	0.00
R4430:Gli2	UTSW	1	118,837,244 (GRCm38)	missense	probably benign
R4463:Gli2	UTSW	1	118,836,008 (GRCm38)	missense	probably damaging	1.00
R4583:Gli2	UTSW	1	118,842,068 (GRCm38)	missense	probably benign
R4613:Gli2	UTSW	1	118,837,511 (GRCm38)	missense	probably damaging	1.00
R4674:Gli2	UTSW	1	118,836,029 (GRCm38)	missense	probably damaging	1.00
R4735:Gli2	UTSW	1	118,840,322 (GRCm38)	missense	probably damaging	1.00
R4770:Gli2	UTSW	1	118,982,588 (GRCm38)	intron	probably benign
R4936:Gli2	UTSW	1	118,836,140 (GRCm38)	missense	probably benign
R5137:Gli2	UTSW	1	118,855,503 (GRCm38)	missense	probably damaging	1.00
R5228:Gli2	UTSW	1	118,836,206 (GRCm38)	missense	probably damaging	1.00
R5318:Gli2	UTSW	1	118,844,470 (GRCm38)	missense	probably damaging	1.00
R5619:Gli2	UTSW	1	118,836,755 (GRCm38)	missense	probably benign	0.27
R5661:Gli2	UTSW	1	118,853,302 (GRCm38)	nonsense	probably null
R6005:Gli2	UTSW	1	118,842,064 (GRCm38)	missense	probably damaging	1.00
R6012:Gli2	UTSW	1	118,837,715 (GRCm38)	missense	probably damaging	0.99
R6341:Gli2	UTSW	1	118,836,224 (GRCm38)	missense	probably damaging	1.00
R6357:Gli2	UTSW	1	118,841,959 (GRCm38)	missense	probably damaging	1.00
R6425:Gli2	UTSW	1	118,835,894 (GRCm38)	nonsense	probably null
R6513:Gli2	UTSW	1	118,855,554 (GRCm38)	missense	probably damaging	1.00
R6802:Gli2	UTSW	1	118,842,065 (GRCm38)	missense	probably damaging	1.00
R7259:Gli2	UTSW	1	118,836,534 (GRCm38)	missense	probably benign
R7378:Gli2	UTSW	1	118,848,492 (GRCm38)	missense	probably damaging	1.00
R7420:Gli2	UTSW	1	118,835,939 (GRCm38)	missense	probably benign	0.00
R7489:Gli2	UTSW	1	118,838,175 (GRCm38)	missense	probably benign	0.00
R7498:Gli2	UTSW	1	118,835,835 (GRCm38)	missense	possibly damaging	0.89
R7929:Gli2	UTSW	1	118,842,042 (GRCm38)	missense	possibly damaging	0.88
R8032:Gli2	UTSW	1	118,836,170 (GRCm38)	missense	probably damaging	0.98
R8150:Gli2	UTSW	1	118,835,828 (GRCm38)	missense	probably damaging	0.99
R8233:Gli2	UTSW	1	118,844,437 (GRCm38)	missense	probably damaging	1.00
R8282:Gli2	UTSW	1	118,837,971 (GRCm38)	missense	probably damaging	1.00
R8312:Gli2	UTSW	1	118,868,112 (GRCm38)	intron	probably benign
R8686:Gli2	UTSW	1	118,836,687 (GRCm38)	missense	probably benign
R8698:Gli2	UTSW	1	118,842,157 (GRCm38)	missense	probably damaging	1.00
R8935:Gli2	UTSW	1	118,836,392 (GRCm38)	missense	probably damaging	1.00
R8938:Gli2	UTSW	1	118,836,205 (GRCm38)	missense	probably damaging	1.00
R8955:Gli2	UTSW	1	118,855,457 (GRCm38)	missense	probably damaging	1.00
R9214:Gli2	UTSW	1	118,868,061 (GRCm38)	missense	probably damaging	1.00
R9232:Gli2	UTSW	1	118,836,291 (GRCm38)	missense	probably benign	0.00
R9295:Gli2	UTSW	1	118,837,266 (GRCm38)	missense	probably damaging	1.00
R9369:Gli2	UTSW	1	118,838,155 (GRCm38)	missense	probably benign	0.04
R9496:Gli2	UTSW	1	118,836,695 (GRCm38)	missense	probably benign	0.00
R9757:Gli2	UTSW	1	118,845,922 (GRCm38)	missense	probably damaging	1.00
X0028:Gli2	UTSW	1	118,837,277 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATGCAGAACTTGTGGC -3'
(R):5'- CCTGAGTCTGTCTAGCTGCC -3'

Sequencing Primer
(F):5'- TAACTGAAGTTCCTGACCTGAC -3'
(R):5'- CTGCCATGCATCTGGAGTGTC -3'

Posted On

2018-10-18