Mutagenetix > Incidental Mutation

Incidental Mutation 'R9295:Gli2'

704515

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 #

R9295 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118761862-118981349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 118764996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 1052 (V1052L)

Ref Sequence

ENSEMBL: ENSMUSP00000054837 (fasta)

Gene Model

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

AlphaFold

Q0VGT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000062483
AA Change: V1052L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054837
Gene: ENSMUSG00000048402
AA Change: V1052L

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: 99.9%
10x: 99.6%
20x: 98.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,116 (GRCm39)	V7E	probably benign	Het
Adam17	A	G	12: 21,399,938 (GRCm39)	V156A	probably benign	Het
Ankrd6	A	T	4: 32,822,160 (GRCm39)	V236E	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
C2cd3	C	A	7: 100,081,734 (GRCm39)	D1125E		Het
Cacna2d2	A	G	9: 107,386,419 (GRCm39)	E182G	probably benign	Het
Cct3	A	G	3: 88,212,430 (GRCm39)	K139E	probably benign	Het
Cd96	G	T	16: 45,938,244 (GRCm39)	Q74K	probably benign	Het
Cdk5rap1	A	T	2: 154,194,186 (GRCm39)	I373N	probably damaging	Het
Cep350	A	T	1: 155,738,051 (GRCm39)	Y2597*	probably null	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Clcn1	G	A	6: 42,290,883 (GRCm39)	G919E	probably benign	Het
Col6a4	G	A	9: 105,957,734 (GRCm39)	A30V	probably damaging	Het
Copa	T	C	1: 171,939,823 (GRCm39)	C655R	probably damaging	Het
Cpt1a	T	A	19: 3,428,441 (GRCm39)	V605E	probably damaging	Het
Ddx46	T	C	13: 55,811,599 (GRCm39)	I600T	possibly damaging	Het
Dhx9	C	A	1: 153,340,673 (GRCm39)	V656L	probably damaging	Het
Dnhd1	T	A	7: 105,363,348 (GRCm39)	M3970K	probably benign	Het
Ercc5	G	T	1: 44,198,017 (GRCm39)	V145F	probably damaging	Het
Erv3	T	C	2: 131,697,979 (GRCm39)	T127A	possibly damaging	Het
Fcer1a	T	C	1: 173,050,174 (GRCm39)	Y172C	probably damaging	Het
Gabra1	A	G	11: 42,044,217 (GRCm39)	M167T	probably damaging	Het
Ggt1	A	G	10: 75,421,743 (GRCm39)	H530R	probably benign	Het
Gm4491	A	C	14: 57,351,140 (GRCm39)	F84C	unknown	Het
Irf2bp1	C	T	7: 18,739,740 (GRCm39)	T460I	probably benign	Het
Klf3	A	G	5: 64,980,240 (GRCm39)	Y187C	possibly damaging	Het
Krt80	T	C	15: 101,249,652 (GRCm39)	E287G	probably benign	Het
Lama4	G	T	10: 38,948,747 (GRCm39)	V837F	probably damaging	Het
Lrig3	G	T	10: 125,850,722 (GRCm39)	C1096F	probably benign	Het
Mtrr	T	C	13: 68,719,258 (GRCm39)	R328G	possibly damaging	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,186,924 (GRCm39)		probably null	Het
Obsl1	A	T	1: 75,476,721 (GRCm39)	D744E	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4x13	G	A	2: 90,231,441 (GRCm39)	M145I	probably benign	Het
Pde4b	A	G	4: 102,112,478 (GRCm39)	T21A	probably damaging	Het
Phf20l1	G	A	15: 66,513,752 (GRCm39)	G1003D	probably damaging	Het
Phtf1	A	G	3: 103,904,893 (GRCm39)	T514A	probably benign	Het
Phykpl	A	G	11: 51,482,231 (GRCm39)	E115G	possibly damaging	Het
Pramel20	A	G	4: 143,298,704 (GRCm39)	T216A	possibly damaging	Het
Pxmp2	C	A	5: 110,433,944 (GRCm39)		probably benign	Het
Reln	A	G	5: 22,209,209 (GRCm39)	L1123P	possibly damaging	Het
Rusc2	T	C	4: 43,416,382 (GRCm39)	S563P	probably damaging	Het
Secisbp2	T	G	13: 51,808,483 (GRCm39)	S83A	probably damaging	Het
Sema3c	T	A	5: 17,932,495 (GRCm39)	M666K	probably benign	Het
Serbp1	G	T	6: 67,248,208 (GRCm39)	D114Y	probably damaging	Het
Sh3d21	T	A	4: 126,045,276 (GRCm39)	T468S	possibly damaging	Het
Shroom3	T	A	5: 93,098,478 (GRCm39)	D1319E	probably benign	Het
Skida1	T	C	2: 18,051,386 (GRCm39)	R502G	unknown	Het
Slc25a12	C	A	2: 71,128,986 (GRCm39)	G314C	possibly damaging	Het
Smg8	A	G	11: 86,968,789 (GRCm39)	V989A	probably benign	Het
Spon2	G	A	5: 33,373,844 (GRCm39)	P156S	probably damaging	Het
Stx1a	A	G	5: 135,066,370 (GRCm39)	N50S	probably benign	Het
Tmem151b	C	A	17: 45,857,806 (GRCm39)	V147L	probably benign	Het
Trim12c	C	T	7: 103,990,391 (GRCm39)	G362D	unknown	Het
Tsr1	T	C	11: 74,799,135 (GRCm39)	V772A	probably damaging	Het
Tti2	A	T	8: 31,643,550 (GRCm39)	K222*	probably null	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn1r60	A	G	7: 5,547,218 (GRCm39)	M294T	probably null	Het
Vmn2r6	T	C	3: 64,463,484 (GRCm39)	E450G	probably benign	Het
Vmn2r60	T	A	7: 41,785,955 (GRCm39)	F253I	probably benign	Het
Wnk4	A	T	11: 101,160,078 (GRCm39)	D649V	probably damaging	Het
Zfhx4	T	C	3: 5,394,525 (GRCm39)	S1040P	probably benign	Het
Zfp112	C	T	7: 23,824,805 (GRCm39)	R262C	probably benign	Het
Zfp287	T	A	11: 62,606,115 (GRCm39)	D264V	probably benign	Het
Zfp46	T	C	4: 136,017,876 (GRCm39)	C237R	probably damaging	Het
Zfp773	C	T	7: 7,135,694 (GRCm39)	E301K	probably benign	Het
Zswim2	A	C	2: 83,748,304 (GRCm39)	V292G	probably benign	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
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
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'- GAGCAGAAGGACCCATGTTG -3'
(R):5'- GCAACGTTTCCACAGTACCC -3'

Sequencing Primer
(F):5'- AGGACCCATGTTGGAGTCG -3'
(R):5'- ATGAATCCAGGTTCACTGCC -3'

Posted On

2022-03-25