Mutagenetix > Incidental Mutation

Incidental Mutation 'R0055:Gli2'

58946

Institutional Source

Beutler Lab

Gene Symbol

Gli2

Ensembl Gene

ENSMUSG00000048402

Gene Name

GLI-Kruppel family member GLI2

Synonyms

MMRRC Submission

038349-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118761862-118981349 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 118818138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123808 (fasta)

Gene Model

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

AlphaFold

Q0VGT2

Predicted Effect

probably benign
Transcript: ENSMUST00000062483

SMART Domains

Protein: ENSMUSP00000054837
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	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

noncoding transcript
Transcript: ENSMUST00000159678

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: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (59/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,547,057 (GRCm39)		probably benign	Het
Atp6v1h	A	T	1: 5,154,677 (GRCm39)	T2S	probably benign	Het
Bcl11b	G	A	12: 107,932,036 (GRCm39)	P179S	probably benign	Het
Cacna1a	C	T	8: 85,306,687 (GRCm39)		probably benign	Het
Ccdc146	C	T	5: 21,502,004 (GRCm39)		probably null	Het
Ccdc61	T	C	7: 18,626,461 (GRCm39)	D128G	probably damaging	Het
Cd55	A	G	1: 130,387,313 (GRCm39)		probably benign	Het
Cdk7	C	A	13: 100,855,812 (GRCm39)	E99*	probably null	Het
Cfap96	A	T	8: 46,421,198 (GRCm39)	S108R	probably damaging	Het
Cox8a	A	T	19: 7,194,874 (GRCm39)	S2T	probably damaging	Het
Cracdl	A	C	1: 37,663,337 (GRCm39)	S854A	probably benign	Het
Dennd5a	A	G	7: 109,498,998 (GRCm39)	I955T	possibly damaging	Het
Dop1a	A	C	9: 86,394,705 (GRCm39)	E602A	probably benign	Het
Ephx4	T	C	5: 107,560,944 (GRCm39)	L32S	probably damaging	Het
Fbxo21	T	A	5: 118,138,555 (GRCm39)	D493E	probably benign	Het
Frmd4b	A	T	6: 97,300,610 (GRCm39)		probably benign	Het
Fzd1	A	T	5: 4,806,037 (GRCm39)	M515K	possibly damaging	Het
Gm12887	T	A	4: 121,473,666 (GRCm39)	K61N	probably damaging	Het
Grin2a	A	T	16: 9,487,671 (GRCm39)	V409D	probably damaging	Het
Grin2b	T	C	6: 135,900,201 (GRCm39)	I227V	probably benign	Het
Helz2	T	G	2: 180,870,614 (GRCm39)	D2879A	possibly damaging	Het
Itpr2	T	C	6: 146,224,631 (GRCm39)	N1453S	probably benign	Het
Itpr3	C	A	17: 27,317,296 (GRCm39)	S817Y	probably damaging	Het
Lin7c	T	A	2: 109,726,798 (GRCm39)		probably benign	Het
Ly75	T	C	2: 60,152,262 (GRCm39)	E1097G	probably benign	Het
Mcm10	T	C	2: 4,996,218 (GRCm39)	N882D	probably damaging	Het
Mettl13	A	T	1: 162,373,750 (GRCm39)	L167Q	probably damaging	Het
Morn2	A	T	17: 80,602,942 (GRCm39)	M1L	probably benign	Het
Mybph	G	T	1: 134,121,590 (GRCm39)	V88L	probably damaging	Het
Nefm	T	A	14: 68,358,648 (GRCm39)		probably benign	Het
Nf1	A	G	11: 79,362,377 (GRCm39)	E1497G	probably damaging	Het
Or2j3	T	C	17: 38,615,702 (GRCm39)	S217G	possibly damaging	Het
Or4k37	T	A	2: 111,158,870 (GRCm39)	Y35*	probably null	Het
Or51ah3	A	G	7: 103,210,244 (GRCm39)	K187E	probably damaging	Het
Or52e18	T	A	7: 104,609,703 (GRCm39)	T79S	possibly damaging	Het
Phf8-ps	A	T	17: 33,285,696 (GRCm39)	W369R	probably damaging	Het
Plcd3	C	G	11: 102,968,411 (GRCm39)	W382S	probably damaging	Het
Plxna1	T	A	6: 89,306,721 (GRCm39)	I1370F	possibly damaging	Het
Qng1	T	C	13: 58,531,980 (GRCm39)	D192G	probably damaging	Het
Rarb	G	A	14: 16,509,066 (GRCm38)	R106C	probably damaging	Het
Rps6ka5	G	A	12: 100,644,839 (GRCm39)	T37I	probably damaging	Het
Runx1	G	T	16: 92,441,029 (GRCm39)		probably benign	Het
Scube1	A	G	15: 83,518,937 (GRCm39)	V301A	probably damaging	Het
Sema3a	A	T	5: 13,450,004 (GRCm39)	N27I	possibly damaging	Het
Slc15a3	G	T	19: 10,820,406 (GRCm39)	E8*	probably null	Het
Slc22a5	T	C	11: 53,782,032 (GRCm39)	S112G	probably benign	Het
Slc25a45	T	C	19: 5,930,495 (GRCm39)	F3L	probably damaging	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slfn10-ps	A	G	11: 82,921,126 (GRCm39)		noncoding transcript	Het
Slit2	C	A	5: 48,439,068 (GRCm39)	C1077*	probably null	Het
Spn	A	G	7: 126,735,494 (GRCm39)	F82L	possibly damaging	Het
Tbccd1	A	G	16: 22,660,655 (GRCm39)	W54R	probably damaging	Het
Ucp1	G	T	8: 84,017,233 (GRCm39)	E8*	probably null	Het
Unc80	A	T	1: 66,545,782 (GRCm39)		probably benign	Het
Vsnl1	A	T	12: 11,436,987 (GRCm39)		probably null	Het
Zdhhc11	C	T	13: 74,130,805 (GRCm39)	Q295*	probably null	Het
Zfp457	T	A	13: 67,442,098 (GRCm39)	H63L	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
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
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'- TCATGGGTTCACAGTCACAGCAC -3'
(R):5'- TCAAAGAGCATGGAGCTGCTTGTC -3'

Sequencing Primer
(F):5'- CAGCACTTTTGTGACCTAAAAGGAC -3'
(R):5'- TCTTTGTCAAGAGCACGGC -3'

Posted On

2013-07-11