Mutagenetix > Incidental Mutation

Incidental Mutation 'R4526:Gli3'

334454

Institutional Source

Beutler Lab

Gene Symbol

Gli3

Ensembl Gene

ENSMUSG00000021318

Gene Name

GLI-Kruppel family member GLI3

Synonyms

brachyphalangy, Bph

MMRRC Submission

041591-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15463235-15730026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15713631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 544 (K544E)

Ref Sequence

ENSEMBL: ENSMUSP00000115989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110510] [ENSMUST00000130065]

AlphaFold

Q61602

Predicted Effect

probably benign
Transcript: ENSMUST00000110510
AA Change: K544E

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: K544E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000130065
AA Change: K544E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115989
Gene: ENSMUSG00000021318
AA Change: K544E

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	596	1.45e2	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 36,096,578 (GRCm38)	R178C	probably damaging	Het
Adamts16	G	A	13: 70,779,518 (GRCm38)		probably benign	Het
Adgre4	C	A	17: 55,785,016 (GRCm38)	S92*	probably null	Het
Arl13b	T	C	16: 62,812,011 (GRCm38)	D73G	probably damaging	Het
Cbwd1	A	G	19: 24,957,964 (GRCm38)	Y59H	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500 (GRCm38)		probably benign	Het
Crebzf	A	C	7: 90,443,760 (GRCm38)	E16A	possibly damaging	Het
D430041D05Rik	A	G	2: 104,192,433 (GRCm38)		probably null	Het
Dnah1	C	A	14: 31,285,998 (GRCm38)	D2151Y	probably benign	Het
Gm17542	T	C	10: 58,713,613 (GRCm38)	D31G	probably null	Het
Lcn9	A	C	2: 25,824,508 (GRCm38)	K128T	possibly damaging	Het
Lman2l	T	C	1: 36,438,763 (GRCm38)	E164G	probably damaging	Het
Lpin2	T	A	17: 71,237,378 (GRCm38)		probably null	Het
Ly75	G	A	2: 60,330,773 (GRCm38)	T900M	probably benign	Het
Mapk15	A	T	15: 75,995,255 (GRCm38)	I74F	possibly damaging	Het
Myh10	C	T	11: 68,815,049 (GRCm38)	T2007I	probably benign	Het
Nek1	T	C	8: 61,106,944 (GRCm38)	S937P	probably damaging	Het
Oas1b	T	A	5: 120,822,102 (GRCm38)		probably null	Het
Olfr1098	C	T	2: 86,922,995 (GRCm38)	C179Y	possibly damaging	Het
Olfr1156	T	C	2: 87,949,409 (GRCm38)	T275A	probably benign	Het
Olfr1269	T	C	2: 90,118,672 (GRCm38)	K309E	probably benign	Het
Otogl	G	A	10: 107,886,980 (GRCm38)	P297S	probably damaging	Het
Plekhm1	A	G	11: 103,395,304 (GRCm38)	S102P	probably damaging	Het
Plvap	G	A	8: 71,507,771 (GRCm38)	R334W	probably damaging	Het
Polr2b	T	G	5: 77,326,714 (GRCm38)	V466G	probably damaging	Het
Ptpn13	T	C	5: 103,501,469 (GRCm38)	I246T	probably benign	Het
Rims2	A	T	15: 39,437,717 (GRCm38)	K281N	probably damaging	Het
Scamp4	T	C	10: 80,611,057 (GRCm38)	F108S	probably damaging	Het
Snrnp200	A	G	2: 127,229,102 (GRCm38)	N1101S	probably benign	Het
Sntb2	C	A	8: 107,009,963 (GRCm38)	L490M	probably damaging	Het
Ssu2	A	G	6: 112,382,422 (GRCm38)	V79A	possibly damaging	Het
Stard7	A	G	2: 127,297,208 (GRCm38)	S347G	probably benign	Het
Usp5	C	G	6: 124,822,630 (GRCm38)	K318N	possibly damaging	Het
Vmn2r6	A	G	3: 64,537,724 (GRCm38)	V860A	probably benign	Het
Vmn2r60	A	G	7: 42,195,243 (GRCm38)	T677A	probably damaging	Het
Zfp318	T	A	17: 46,412,358 (GRCm38)	H1762Q	probably benign	Het
Zmynd8	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	2: 165,807,607 (GRCm38)		probably benign	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
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'- TGTTTCTCTGAGATATGGCTAACAC -3'
(R):5'- CTGTGGGAATATGGCAGACAC -3'

Sequencing Primer
(F):5'- TTCCTCAACCCCAGCATAT -3'
(R):5'- GATGGCCTGTTTAAAGCTCAGCAC -3'

Posted On

2015-08-18