Mutagenetix > Incidental Mutation

Incidental Mutation 'R2883:Gli2'

260891

Institutional Source

Beutler Lab

Gene Symbol

Gli2

Ensembl Gene

ENSMUSG00000048402

Gene Name

GLI-Kruppel family member GLI2

Synonyms

MMRRC Submission

040471-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118761862-118981349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118795874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 131 (I131V)

Ref Sequence

ENSEMBL: ENSMUSP00000125342 (fasta)

Gene Model

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

AlphaFold

Q0VGT2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062483
AA Change: I94V

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054837
Gene: ENSMUSG00000048402
AA Change: I94V

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 damaging
Transcript: ENSMUST00000161301
AA Change: I131V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125342
Gene: ENSMUSG00000048402
AA Change: I131V

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	G	A	8: 122,266,644 (GRCm39)	P81S	probably damaging	Het
Arhgef10l	T	C	4: 140,244,113 (GRCm39)	Q790R	probably benign	Het
Asic2	T	A	11: 80,784,839 (GRCm39)	I367F	possibly damaging	Het
Asxl2	T	C	12: 3,551,830 (GRCm39)	S1191P	probably benign	Het
Bod1l	A	G	5: 41,989,602 (GRCm39)	S374P	probably benign	Het
C1qtnf7	T	A	5: 43,773,222 (GRCm39)	F167I	probably damaging	Het
Cimip3	C	A	17: 47,747,650 (GRCm39)	V32F	probably damaging	Het
Col13a1	A	G	10: 61,814,135 (GRCm39)	L94P	probably benign	Het
Cped1	A	T	6: 22,143,978 (GRCm39)	T575S	probably damaging	Het
Cpt1b	T	C	15: 89,302,072 (GRCm39)	Y702C	probably benign	Het
D630039A03Rik	T	A	4: 57,910,560 (GRCm39)	N84I	probably damaging	Het
Dse	A	T	10: 34,028,503 (GRCm39)	D862E	probably benign	Het
Etl4	A	T	2: 20,810,985 (GRCm39)	T1023S	possibly damaging	Het
Fat4	T	A	3: 39,034,953 (GRCm39)	N2868K	probably damaging	Het
Fgd5	G	A	6: 91,964,090 (GRCm39)		probably null	Het
Fsip2	C	T	2: 82,821,868 (GRCm39)	T5867I	possibly damaging	Het
Fuca2	A	G	10: 13,381,695 (GRCm39)	T203A	probably benign	Het
Gtpbp4	A	G	13: 9,040,759 (GRCm39)	V122A	possibly damaging	Het
Kif1b	G	A	4: 149,322,105 (GRCm39)	T938I	possibly damaging	Het
Klhl29	T	C	12: 5,134,036 (GRCm39)	D767G	probably damaging	Het
Mageb3	A	G	2: 121,784,847 (GRCm39)	V285A	probably benign	Het
Myoc	A	G	1: 162,467,185 (GRCm39)	E118G	possibly damaging	Het
Nedd1	A	C	10: 92,530,860 (GRCm39)	F410V	probably damaging	Het
Nipal1	A	T	5: 72,825,073 (GRCm39)	K255N	probably damaging	Het
Npr3	T	C	15: 11,883,410 (GRCm39)	K340E	possibly damaging	Het
Obsl1	C	A	1: 75,473,155 (GRCm39)	G1023C	possibly damaging	Het
Ogdh	T	C	11: 6,284,545 (GRCm39)	L188P	probably damaging	Het
Or51ac3	T	C	7: 103,214,471 (GRCm39)	N5S	probably benign	Het
Or5v1	C	T	17: 37,810,271 (GRCm39)	S243F	probably damaging	Het
Or9q1	T	A	19: 13,805,239 (GRCm39)	I174F	probably damaging	Het
Otogl	G	A	10: 107,604,842 (GRCm39)	T2188M	probably damaging	Het
Pck1	G	A	2: 173,000,368 (GRCm39)	V600I	probably benign	Het
Ranbp17	A	G	11: 33,454,708 (GRCm39)	C42R	probably damaging	Het
Rapgef4	G	A	2: 71,861,469 (GRCm39)	R53H	probably benign	Het
Rbm12	G	A	2: 155,938,995 (GRCm39)	H426Y	probably damaging	Het
Retreg2	C	T	1: 75,123,356 (GRCm39)	P428L	probably benign	Het
Rev3l	G	T	10: 39,701,152 (GRCm39)	S1883I	probably damaging	Het
Rinl	CGGG	CGGGGG	7: 28,497,083 (GRCm39)		probably null	Het
Rora	T	C	9: 69,282,717 (GRCm39)	S356P	probably damaging	Het
Slc31a1	T	C	4: 62,307,008 (GRCm39)	V188A	probably damaging	Het
Slc9a3	A	G	13: 74,306,879 (GRCm39)	K335E	probably damaging	Het
Spata22	C	A	11: 73,235,504 (GRCm39)	H274N	possibly damaging	Het
Srrm1	T	C	4: 135,048,722 (GRCm39)		probably benign	Het
Stab2	A	T	10: 86,803,550 (GRCm39)	I333N	possibly damaging	Het
Supt5	A	G	7: 28,028,745 (GRCm39)	Y153H	possibly damaging	Het
Tyk2	T	C	9: 21,021,883 (GRCm39)	T825A	probably benign	Het
Usp20	G	A	2: 30,908,812 (GRCm39)	V798M	probably benign	Het
Wdr26	A	T	1: 181,038,685 (GRCm39)	D102E	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
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'- ACTACTTACCATCAGCAGGGC -3'
(R):5'- TTCTTTCAAGGTCTGACTCTAAGC -3'

Sequencing Primer
(F):5'- AGGTAGTGCTCCATATGG -3'
(R):5'- CTAGAGCTGACAAGGAGTTTGGC -3'

Posted On

2015-01-23