Mutagenetix > Incidental Mutation

Incidental Mutation 'R9787:Gli3'

734414

Institutional Source

Beutler Lab

Gene Symbol

Gli3

Ensembl Gene

ENSMUSG00000021318

Gene Name

GLI-Kruppel family member GLI3

Synonyms

brachyphalangy, Bph

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9787 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15463235-15730026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 15725801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 1258 (G1258R)

Ref Sequence

ENSEMBL: ENSMUSP00000106137 (fasta)

Gene Model

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

AlphaFold

Q61602

Predicted Effect

probably damaging
Transcript: ENSMUST00000110510
AA Change: G1258R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: G1258R

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 97.9%

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 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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,501,271 (GRCm38)	T26A	probably benign	Het
Arhgap27	A	G	11: 103,339,222 (GRCm38)	S239P	possibly damaging	Het
Bambi	T	C	18: 3,511,515 (GRCm38)	V112A	possibly damaging	Het
BC034090	T	A	1: 155,242,209 (GRCm38)	E54D	possibly damaging	Het
BC052040	T	A	2: 115,674,755 (GRCm38)	L169Q	probably damaging	Het
Chst13	C	T	6: 90,309,092 (GRCm38)	R296H	probably benign	Het
Clip2	C	T	5: 134,504,762 (GRCm38)	R487Q	probably benign	Het
Ctbs	T	A	3: 146,454,354 (GRCm38)	V46E	probably damaging	Het
Cyp2b9	A	G	7: 26,200,834 (GRCm38)	I356V	probably benign	Het
Dot1l	A	G	10: 80,764,638 (GRCm38)	T40A	probably benign	Het
Dst	C	T	1: 34,180,443 (GRCm38)	T1988M	probably benign	Het
Fam184a	T	A	10: 53,750,768 (GRCm38)	D38V	possibly damaging	Het
Fank1	T	A	7: 133,862,158 (GRCm38)	F83I	probably damaging	Het
Fto	T	A	8: 91,485,258 (GRCm38)	W404R	probably damaging	Het
Gabra4	T	A	5: 71,633,661 (GRCm38)	R279S	possibly damaging	Het
Garem2	C	T	5: 30,114,221 (GRCm38)	P227L	probably damaging	Het
Gfra4	C	A	2: 131,042,680 (GRCm38)	M1I	probably null	Het
Gin1	T	A	1: 97,775,486 (GRCm38)	H11Q	probably damaging	Het
Gsx1	T	C	5: 147,189,867 (GRCm38)	S167P	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,771,417 (GRCm38)		probably benign	Het
Il7	G	A	3: 7,576,111 (GRCm38)	R82C	probably damaging	Het
Lair1	A	T	7: 4,010,795 (GRCm38)	V151E	probably damaging	Het
Lpar1	T	C	4: 58,437,349 (GRCm38)	D360G	probably benign	Het
Malrd1	T	A	2: 15,620,590 (GRCm38)	N345K	unknown	Het
Mbnl1	T	A	3: 60,595,665 (GRCm38)	N82K	probably damaging	Het
Mtdh	C	A	15: 34,123,698 (GRCm38)	T357N	probably benign	Het
Muc6	T	A	7: 141,641,481 (GRCm38)	K1306*	probably null	Het
Nsd1	T	A	13: 55,313,705 (GRCm38)	C2685S	probably benign	Het
Olfr2	A	T	7: 107,001,692 (GRCm38)	L56H	probably damaging	Het
Optn	T	A	2: 5,031,339 (GRCm38)	Q444L	probably damaging	Het
Pan2	T	A	10: 128,308,354 (GRCm38)	D157E	probably benign	Het
Pole	G	A	5: 110,318,000 (GRCm38)		probably null	Het
Stau2	A	T	1: 16,460,371 (GRCm38)	I108N	unknown	Het
Sugp2	A	G	8: 70,242,778 (GRCm38)	K134E	probably benign	Het
Tcaf3	C	T	6: 42,597,090 (GRCm38)	V63I	probably benign	Het
Tcf7	T	A	11: 52,282,946 (GRCm38)		probably benign	Het
Ttn	C	T	2: 76,885,013 (GRCm38)	E7912K	unknown	Het
Tubb2b	T	C	13: 34,128,426 (GRCm38)	D128G	probably benign	Het
Umodl1	A	T	17: 30,959,350 (GRCm38)	Q100L	probably damaging	Het
Unc79	T	A	12: 103,146,361 (GRCm38)	N2230K	probably benign	Het
Zc3hav1l	T	C	6: 38,295,166 (GRCm38)	T223A	probably benign	Het
Zfhx4	G	A	3: 5,390,446 (GRCm38)	D1167N	possibly damaging	Het
Zfp36	A	T	7: 28,377,919 (GRCm38)	L200Q	probably damaging	Het
Zswim9	T	A	7: 13,260,278 (GRCm38)	L650F	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
R1270:Gli3	UTSW	13	15,723,744 (GRCm38)	missense	probably benign	0.02
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
RF010:Gli3	UTSW	13	15,726,369 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGGGGTTTTGGGCTATACAAC -3'
(R):5'- TGGGCAATGTATCCCTGTCC -3'

Sequencing Primer
(F):5'- TGGGCTATACAACAATATGGTGGTAC -3'
(R):5'- TGGGTTTGCATGCCATTCAC -3'

Posted On

2022-11-14