Mutagenetix > Incidental Mutation

Incidental Mutation 'R1270:Gli3'

151287

Institutional Source

Beutler Lab

Gene Symbol

Gli3

Ensembl Gene

ENSMUSG00000021318

Gene Name

GLI-Kruppel family member GLI3

Synonyms

brachyphalangy, Bph

MMRRC Submission

039336-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1270 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15463235-15730026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15723744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 803 (A803V)

Ref Sequence

ENSEMBL: ENSMUSP00000106137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110510]

AlphaFold

Q61602

Predicted Effect

probably benign
Transcript: ENSMUST00000110510
AA Change: A803V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: A803V

Domain	Start	End	E-Value	Type
low complexity region	120	136	N/A	INTRINSIC
low complexity region	204	220	N/A	INTRINSIC
low complexity region	324	341	N/A	INTRINSIC
low complexity region	403	421	N/A	INTRINSIC
ZnF_C2H2	480	505	1.53e-1	SMART
ZnF_C2H2	513	540	1.23e0	SMART
ZnF_C2H2	546	570	3.16e-3	SMART
ZnF_C2H2	576	601	4.17e-3	SMART
ZnF_C2H2	607	632	1.4e-4	SMART
low complexity region	703	726	N/A	INTRINSIC
low complexity region	756	763	N/A	INTRINSIC
low complexity region	849	880	N/A	INTRINSIC
low complexity region	934	944	N/A	INTRINSIC
low complexity region	1024	1038	N/A	INTRINSIC
low complexity region	1081	1095	N/A	INTRINSIC
low complexity region	1166	1175	N/A	INTRINSIC

Meta Mutation Damage Score

0.0693

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

97% (36/37)

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 proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants die perinatally with gross polydactyly, multiple craniofacial defects, and frequently, exencephaly. Heterozygotes exhibit enlarged interfrontal bone and extra preaxial digits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 36,952,184 (GRCm38)	H1662Q	probably damaging	Het
Abcc3	C	T	11: 94,357,384 (GRCm38)	R1129Q	probably damaging	Het
Adam7	T	A	14: 68,527,669 (GRCm38)	K93M	probably damaging	Het
Aldh1a2	T	G	9: 71,281,706 (GRCm38)	L301V	probably benign	Het
Alg9	A	G	9: 50,787,572 (GRCm38)		probably benign	Het
Aspg	C	T	12: 112,116,447 (GRCm38)	T187I	probably damaging	Het
C4a	A	G	17: 34,814,528 (GRCm38)		noncoding transcript	Het
Cdh2	T	G	18: 16,627,557 (GRCm38)		probably benign	Het
Ceacam1	T	C	7: 25,466,314 (GRCm38)		probably null	Het
Cep250	G	A	2: 155,990,681 (GRCm38)	V1509I	probably benign	Het
D130043K22Rik	T	C	13: 24,857,338 (GRCm38)	S248P	probably benign	Het
Dgkd	A	T	1: 87,934,125 (GRCm38)	M801L	probably damaging	Het
E330021D16Rik	A	T	6: 136,401,787 (GRCm38)	I15N	probably damaging	Het
Edc4	A	G	8: 105,891,264 (GRCm38)	E1152G	possibly damaging	Het
Enkd1	A	G	8: 105,703,901 (GRCm38)	I334T	probably damaging	Het
Glrx3	A	G	7: 137,453,414 (GRCm38)	N95S	probably benign	Het
Ints2	C	T	11: 86,233,085 (GRCm38)	G626R	probably damaging	Het
Kank2	A	T	9: 21,772,760 (GRCm38)	N724K	probably damaging	Het
Kctd20	A	G	17: 28,966,931 (GRCm38)	D416G	possibly damaging	Het
Lmtk3	A	G	7: 45,793,828 (GRCm38)	E645G	probably damaging	Het
Mrgpra9	A	T	7: 47,252,783 (GRCm38)		probably null	Het
Muc1	T	A	3: 89,232,107 (GRCm38)	Y605N	probably damaging	Het
Olfr1256	C	T	2: 89,835,322 (GRCm38)	V208M	possibly damaging	Het
Olfr146	A	C	9: 39,019,247 (GRCm38)	I98R	possibly damaging	Het
Prx	T	A	7: 27,518,930 (GRCm38)	I952N	probably damaging	Het
Shf	G	A	2: 122,368,682 (GRCm38)	P51S	probably damaging	Het
Skint5	A	T	4: 113,942,659 (GRCm38)	Y90*	probably null	Het
Swt1	A	T	1: 151,384,391 (GRCm38)	N752K	probably benign	Het
Taar1	T	C	10: 23,920,533 (GRCm38)	V43A	probably damaging	Het
Tenm2	T	C	11: 36,041,659 (GRCm38)	N1702D	probably damaging	Het
Tff2	C	T	17: 31,144,169 (GRCm38)		probably null	Het
Trim2	G	A	3: 84,167,677 (GRCm38)	A686V	probably damaging	Het

Other mutations in Gli3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Gli3	APN	13	15,644,299 (GRCm38)	missense	probably damaging	1.00
IGL00471:Gli3	APN	13	15,723,769 (GRCm38)	critical splice donor site	probably null
IGL00484:Gli3	APN	13	15,644,392 (GRCm38)	missense	possibly damaging	0.84
IGL00588:Gli3	APN	13	15,644,392 (GRCm38)	missense	possibly damaging	0.84
IGL01161:Gli3	APN	13	15,548,398 (GRCm38)	critical splice acceptor site	probably null
IGL01633:Gli3	APN	13	15,648,634 (GRCm38)	missense	probably damaging	1.00
IGL01799:Gli3	APN	13	15,726,161 (GRCm38)	missense	probably benign	0.00
IGL01861:Gli3	APN	13	15,725,325 (GRCm38)	missense	probably damaging	1.00
IGL02063:Gli3	APN	13	15,726,372 (GRCm38)	missense	possibly damaging	0.94
IGL02112:Gli3	APN	13	15,662,514 (GRCm38)	missense	probably damaging	1.00
IGL02255:Gli3	APN	13	15,648,719 (GRCm38)	missense	probably damaging	1.00
IGL02270:Gli3	APN	13	15,726,786 (GRCm38)	utr 3 prime	probably benign
IGL02336:Gli3	APN	13	15,720,289 (GRCm38)	missense	probably damaging	1.00
IGL02346:Gli3	APN	13	15,723,693 (GRCm38)	missense	probably damaging	1.00
IGL02744:Gli3	APN	13	15,613,886 (GRCm38)	critical splice donor site	probably null
IGL02877:Gli3	APN	13	15,724,742 (GRCm38)	missense	probably damaging	1.00
IGL02975:Gli3	APN	13	15,724,568 (GRCm38)	missense	probably damaging	1.00
IGL03018:Gli3	APN	13	15,660,132 (GRCm38)	missense	probably damaging	1.00
IGL03378:Gli3	APN	13	15,644,420 (GRCm38)	missense	probably damaging	1.00
IGL03406:Gli3	APN	13	15,648,581 (GRCm38)	missense	probably damaging	1.00
Capone	UTSW	13	15,715,034 (GRCm38)	missense	probably damaging	1.00
Carpals	UTSW	13	15,713,650 (GRCm38)	critical splice donor site	probably null
Ness	UTSW	13	15,723,555 (GRCm38)	missense	probably damaging	1.00
FR4737:Gli3	UTSW	13	15,644,357 (GRCm38)	missense	probably damaging	1.00
R0110:Gli3	UTSW	13	15,724,785 (GRCm38)	missense	probably damaging	1.00
R0329:Gli3	UTSW	13	15,723,558 (GRCm38)	missense	probably damaging	0.98
R0330:Gli3	UTSW	13	15,723,558 (GRCm38)	missense	probably damaging	0.98
R0360:Gli3	UTSW	13	15,724,764 (GRCm38)	missense	probably benign	0.32
R0364:Gli3	UTSW	13	15,724,764 (GRCm38)	missense	probably benign	0.32
R0469:Gli3	UTSW	13	15,724,785 (GRCm38)	missense	probably damaging	1.00
R0616:Gli3	UTSW	13	15,662,406 (GRCm38)	missense	possibly damaging	0.75
R0639:Gli3	UTSW	13	15,724,715 (GRCm38)	missense	probably damaging	1.00
R1072:Gli3	UTSW	13	15,713,605 (GRCm38)	missense	probably damaging	1.00
R1257:Gli3	UTSW	13	15,725,996 (GRCm38)	nonsense	probably null
R1424:Gli3	UTSW	13	15,726,314 (GRCm38)	missense	probably benign	0.00
R1481:Gli3	UTSW	13	15,613,850 (GRCm38)	missense	probably damaging	0.99
R1596:Gli3	UTSW	13	15,725,471 (GRCm38)	missense	possibly damaging	0.74
R1628:Gli3	UTSW	13	15,726,312 (GRCm38)	missense	probably benign	0.00
R1721:Gli3	UTSW	13	15,726,297 (GRCm38)	missense	probably benign	0.27
R1797:Gli3	UTSW	13	15,713,512 (GRCm38)	missense	probably damaging	0.99
R1813:Gli3	UTSW	13	15,648,691 (GRCm38)	missense	probably damaging	1.00
R1819:Gli3	UTSW	13	15,725,792 (GRCm38)	nonsense	probably null
R1988:Gli3	UTSW	13	15,726,380 (GRCm38)	missense	probably benign
R2132:Gli3	UTSW	13	15,725,549 (GRCm38)	missense	possibly damaging	0.74
R2352:Gli3	UTSW	13	15,662,392 (GRCm38)	missense	probably benign	0.02
R3085:Gli3	UTSW	13	15,660,941 (GRCm38)	missense	probably damaging	1.00
R3177:Gli3	UTSW	13	15,725,982 (GRCm38)	missense	probably benign	0.28
R3277:Gli3	UTSW	13	15,725,982 (GRCm38)	missense	probably benign	0.28
R4162:Gli3	UTSW	13	15,725,115 (GRCm38)	missense	possibly damaging	0.93
R4497:Gli3	UTSW	13	15,723,571 (GRCm38)	missense	possibly damaging	0.74
R4526:Gli3	UTSW	13	15,713,631 (GRCm38)	missense	probably damaging	1.00
R4979:Gli3	UTSW	13	15,724,464 (GRCm38)	missense	possibly damaging	0.87
R5327:Gli3	UTSW	13	15,548,507 (GRCm38)	missense	probably damaging	0.99
R5395:Gli3	UTSW	13	15,714,950 (GRCm38)	missense	probably damaging	1.00
R5494:Gli3	UTSW	13	15,725,982 (GRCm38)	missense	probably benign	0.28
R5609:Gli3	UTSW	13	15,548,453 (GRCm38)	missense	possibly damaging	0.82
R5718:Gli3	UTSW	13	15,478,165 (GRCm38)	critical splice donor site	probably null
R5810:Gli3	UTSW	13	15,644,309 (GRCm38)	missense	probably damaging	0.99
R5896:Gli3	UTSW	13	15,726,180 (GRCm38)	missense	probably benign	0.00
R5930:Gli3	UTSW	13	15,548,625 (GRCm38)	missense	probably damaging	1.00
R5964:Gli3	UTSW	13	15,726,162 (GRCm38)	nonsense	probably null
R5985:Gli3	UTSW	13	15,723,555 (GRCm38)	missense	probably damaging	1.00
R6224:Gli3	UTSW	13	15,725,145 (GRCm38)	missense	probably benign
R6278:Gli3	UTSW	13	15,725,113 (GRCm38)	missense	possibly damaging	0.69
R6330:Gli3	UTSW	13	15,724,732 (GRCm38)	missense	probably damaging	1.00
R6383:Gli3	UTSW	13	15,723,555 (GRCm38)	missense	probably damaging	1.00
R6523:Gli3	UTSW	13	15,713,650 (GRCm38)	critical splice donor site	probably null
R7072:Gli3	UTSW	13	15,725,695 (GRCm38)	missense	possibly damaging	0.51
R7085:Gli3	UTSW	13	15,715,062 (GRCm38)	missense	probably damaging	1.00
R7228:Gli3	UTSW	13	15,724,502 (GRCm38)	missense	probably benign	0.00
R7327:Gli3	UTSW	13	15,725,559 (GRCm38)	missense	probably benign	0.02
R7451:Gli3	UTSW	13	15,726,291 (GRCm38)	missense	possibly damaging	0.50
R7974:Gli3	UTSW	13	15,726,256 (GRCm38)	missense	probably benign	0.00
R8167:Gli3	UTSW	13	15,725,643 (GRCm38)	missense	probably benign	0.00
R8170:Gli3	UTSW	13	15,720,208 (GRCm38)	missense	probably benign
R8199:Gli3	UTSW	13	15,725,991 (GRCm38)	missense	probably benign	0.08
R8247:Gli3	UTSW	13	15,726,775 (GRCm38)	missense	possibly damaging	0.82
R8332:Gli3	UTSW	13	15,713,548 (GRCm38)	missense	possibly damaging	0.58
R8347:Gli3	UTSW	13	15,723,525 (GRCm38)	missense	probably damaging	1.00
R8559:Gli3	UTSW	13	15,660,132 (GRCm38)	missense	probably damaging	1.00
R8676:Gli3	UTSW	13	15,715,034 (GRCm38)	missense	probably damaging	1.00
R8905:Gli3	UTSW	13	15,726,531 (GRCm38)	missense	probably benign	0.01
R9099:Gli3	UTSW	13	15,726,735 (GRCm38)	missense	probably damaging	1.00
R9260:Gli3	UTSW	13	15,725,090 (GRCm38)	missense	probably damaging	0.99
R9317:Gli3	UTSW	13	15,715,073 (GRCm38)	missense	probably damaging	1.00
R9475:Gli3	UTSW	13	15,725,711 (GRCm38)	missense	possibly damaging	0.87
R9546:Gli3	UTSW	13	15,613,858 (GRCm38)	missense	probably benign	0.00
R9571:Gli3	UTSW	13	15,726,273 (GRCm38)	missense	probably benign	0.00
R9621:Gli3	UTSW	13	15,726,668 (GRCm38)	missense	probably benign	0.01
R9704:Gli3	UTSW	13	15,723,473 (GRCm38)	missense	probably damaging	1.00
R9787:Gli3	UTSW	13	15,725,801 (GRCm38)	missense	probably damaging	0.96
RF010:Gli3	UTSW	13	15,726,369 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGTAGCAGACCTCAGTGCCATC -3'
(R):5'- AAAGCAGTGCGAATGGTTCAACATC -3'

Sequencing Primer
(F):5'- TCGATGAAACCCCAATCATGGAC -3'
(R):5'- TCAACACAGGTTACGGTCTAGC -3'

Posted On

2014-01-29