Mutagenetix > Incidental Mutation

Incidental Mutation 'R8935:Gli2'

680547

Institutional Source

Beutler Lab

Gene Symbol

Gli2

Ensembl Gene

ENSMUSG00000048402

Gene Name

GLI-Kruppel family member GLI2

Synonyms

MMRRC Submission

068778-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8935 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118761862-118981349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118764122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1343 (E1343G)

Ref Sequence

ENSEMBL: ENSMUSP00000054837 (fasta)

Gene Model

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

AlphaFold

Q0VGT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000062483
AA Change: E1343G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054837
Gene: ENSMUSG00000048402
AA Change: E1343G

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	G	T	8: 117,698,181 (GRCm39)	Q309K	probably benign	Het
Adam20	T	C	8: 41,247,989 (GRCm39)	V33A	probably benign	Het
Ank	T	C	15: 27,591,112 (GRCm39)	V417A	probably damaging	Het
Arhgef17	C	T	7: 100,527,324 (GRCm39)	V779I	probably benign	Het
Atp6v0a1	T	A	11: 100,929,519 (GRCm39)	F440I	possibly damaging	Het
Brca2	T	G	5: 150,492,446 (GRCm39)	S3154A	possibly damaging	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Cep128	C	T	12: 91,233,770 (GRCm39)	E433K	probably damaging	Het
Cep192	C	T	18: 67,995,543 (GRCm39)	T970I	probably damaging	Het
Chd2	T	C	7: 73,153,210 (GRCm39)	T249A	possibly damaging	Het
Cpd	C	T	11: 76,731,295 (GRCm39)	G304S	probably damaging	Het
Cpsf7	T	A	19: 10,509,345 (GRCm39)	Y85*	probably null	Het
Csf3r	T	A	4: 125,937,200 (GRCm39)	S695T	probably benign	Het
Cyp20a1	A	G	1: 60,410,473 (GRCm39)	Q258R	probably damaging	Het
Ddi2	A	T	4: 141,412,600 (GRCm39)	L104Q	probably damaging	Het
Dpp8	T	C	9: 64,983,066 (GRCm39)	S733P	possibly damaging	Het
Efhd1	A	G	1: 87,217,219 (GRCm39)	D112G	probably damaging	Het
Elapor2	C	T	5: 9,491,764 (GRCm39)	T708M	probably damaging	Het
Fgfr3	A	C	5: 33,892,810 (GRCm39)	D752A	probably damaging	Het
Fmod	C	A	1: 133,968,586 (GRCm39)	H209N	probably benign	Het
Gde1	C	T	7: 118,297,914 (GRCm39)	E101K	possibly damaging	Het
Gldc	C	T	19: 30,109,093 (GRCm39)	R615Q	probably benign	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm4847	A	G	1: 166,469,789 (GRCm39)	Y95H	probably damaging	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Gtpbp3	A	G	8: 71,945,181 (GRCm39)		probably null	Het
Haspin	A	G	11: 73,026,890 (GRCm39)	F733S	probably damaging	Het
Hgh1	C	G	15: 76,254,592 (GRCm39)	R323G	probably damaging	Het
Idh1	A	T	1: 65,204,378 (GRCm39)	I244N	probably damaging	Het
Idh2	T	C	7: 79,764,946 (GRCm39)	T27A	probably benign	Het
Igkv4-69	T	C	6: 69,260,912 (GRCm39)	T72A	possibly damaging	Het
Lmntd1	A	G	6: 145,489,229 (GRCm39)	Y11H	probably benign	Het
Myt1l	T	C	12: 29,877,243 (GRCm39)	M298T	unknown	Het
Neb	T	C	2: 52,141,780 (GRCm39)	D3009G	probably damaging	Het
Nfya	A	T	17: 48,700,294 (GRCm39)		probably benign	Het
Nsun2	A	G	13: 69,767,586 (GRCm39)	D180G	probably damaging	Het
Or10ag60	A	G	2: 87,438,421 (GRCm39)	T230A	possibly damaging	Het
Or4k50-ps1	A	T	2: 111,522,244 (GRCm39)	Q127L	unknown	Het
Osbpl6	T	C	2: 76,379,800 (GRCm39)	V130A	possibly damaging	Het
Prss44	T	A	9: 110,645,527 (GRCm39)	I94N	probably damaging	Het
Rbm6	C	T	9: 107,677,945 (GRCm39)	V15I	probably benign	Het
Rdh19	C	T	10: 127,685,929 (GRCm39)	L14F	possibly damaging	Het
Rtkn	T	C	6: 83,115,196 (GRCm39)	L14P	probably damaging	Het
Ryr3	A	T	2: 112,508,402 (GRCm39)	N3405K	probably benign	Het
Scp2	T	C	4: 107,950,072 (GRCm39)	E179G	probably damaging	Het
Sema3e	A	T	5: 14,282,127 (GRCm39)	K421I	probably damaging	Het
Sorcs2	C	T	5: 36,193,202 (GRCm39)	V755M	possibly damaging	Het
Spef2	T	C	15: 9,607,436 (GRCm39)	I1328V	probably damaging	Het
Speg	A	T	1: 75,399,250 (GRCm39)	K2232N	probably benign	Het
St7l	A	G	3: 104,778,204 (GRCm39)	I114V	probably damaging	Het
Stkld1	C	T	2: 26,833,941 (GRCm39)	Q143*	probably null	Het
Stox2	T	C	8: 47,645,895 (GRCm39)	T586A	possibly damaging	Het
Supt20	A	G	3: 54,634,988 (GRCm39)		probably null	Het
Tectb	G	T	19: 55,183,132 (GRCm39)	V338L	probably benign	Het
Tiam1	T	C	16: 89,681,821 (GRCm39)	N386D	probably damaging	Het
Trps1	G	A	15: 50,752,344 (GRCm39)	Q2*	probably null	Het
Usp36	C	T	11: 118,167,657 (GRCm39)		probably null	Het
Vmn1r198	C	T	13: 22,539,092 (GRCm39)	Q104*	probably null	Het
Vmn1r38	T	C	6: 66,753,979 (GRCm39)	T46A	probably benign	Het
Vmn2r110	A	G	17: 20,803,957 (GRCm39)	V206A	probably benign	Het
Vmn2r62	T	A	7: 42,437,791 (GRCm39)	D231V	probably benign	Het
Zfp143	T	C	7: 109,669,736 (GRCm39)	L55P	probably 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
R8032:Gli2	UTSW	1	118,763,900 (GRCm39)	missense	probably damaging	0.98
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
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'- CTGGCCATAGTAGTATAGCGTGTTC -3'
(R):5'- TGAATGGCCATCAACGGGAG -3'

Sequencing Primer
(F):5'- CCATAGTAGTATAGCGTGTTCTGATC -3'
(R):5'- AGCACGGGGTCCCCAATTC -3'

Posted On

2021-08-31