Mutagenetix > Incidental Mutation

Incidental Mutation 'R4162:Gli3'

321576

Institutional Source

Beutler Lab

Gene Symbol

Gli3

Ensembl Gene

ENSMUSG00000021318

Gene Name

GLI-Kruppel family member GLI3

Synonyms

Bph, brachyphalangy

MMRRC Submission

041005-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15638308-15904611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 15899700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 1029 (S1029I)

Ref Sequence

ENSEMBL: ENSMUSP00000106137 (fasta)

Gene Model

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

AlphaFold

Q61602

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110510
AA Change: S1029I

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: S1029I

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

0.1371

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

93% (38/41)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	T	A	10: 83,342,518 (GRCm39)	I431F	possibly damaging	Het
Atrn	A	G	2: 130,836,148 (GRCm39)		probably benign	Het
Cep57	C	T	9: 13,723,929 (GRCm39)		probably null	Het
Cgas	G	A	9: 78,341,686 (GRCm39)	R364C	probably damaging	Het
Cybc1	T	C	11: 121,115,492 (GRCm39)	D109G	probably damaging	Het
Defb41	C	T	1: 18,330,821 (GRCm39)	C42Y	probably damaging	Het
Dnah3	C	T	7: 119,522,061 (GRCm39)	G4033D	probably damaging	Het
Flnb	A	T	14: 7,915,374 (GRCm38)	I1502F	possibly damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm5592	A	G	7: 40,867,202 (GRCm39)		probably benign	Het
Grin2d	T	C	7: 45,507,042 (GRCm39)	K478E	probably damaging	Het
Il18	T	C	9: 50,490,712 (GRCm39)	S116P	probably damaging	Het
Itsn1	C	A	16: 91,649,790 (GRCm39)	P155T	probably benign	Het
Kdm5b	C	T	1: 134,552,899 (GRCm39)	P1292S	probably benign	Het
Mef2b	T	C	8: 70,618,961 (GRCm39)	F181S	probably damaging	Het
Mfn1	T	C	3: 32,617,147 (GRCm39)		probably benign	Het
Mfsd12	A	G	10: 81,196,931 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,726,501 (GRCm39)		probably null	Het
Nrxn2	G	A	19: 6,582,173 (GRCm39)	V660I	probably damaging	Het
Nsun4	G	T	4: 115,891,391 (GRCm39)	Y329*	probably null	Het
Pank4	T	C	4: 155,064,051 (GRCm39)		probably null	Het
Plcb2	T	A	2: 118,540,068 (GRCm39)	E1075V	probably damaging	Het
Prep	G	T	10: 44,943,458 (GRCm39)	R11L	possibly damaging	Het
Prkcd	A	G	14: 30,323,154 (GRCm39)	F461L	probably damaging	Het
Saxo5	C	T	8: 3,529,067 (GRCm39)	P214L	probably damaging	Het
Snx21	T	C	2: 164,628,770 (GRCm39)	Y138H	probably damaging	Het
Spout1	C	T	2: 30,067,589 (GRCm39)		probably benign	Het
Tex15	T	C	8: 34,071,586 (GRCm39)	S2378P	probably damaging	Het
Thap12	C	T	7: 98,359,285 (GRCm39)		probably benign	Het
Trav3-1	T	C	14: 52,818,496 (GRCm39)	Y57H	probably damaging	Het
Ttc39c	A	G	18: 12,857,994 (GRCm39)		probably null	Het
Tubgcp3	C	T	8: 12,689,547 (GRCm39)	R573Q	possibly damaging	Het
Ush2a	A	C	1: 188,475,877 (GRCm39)	K2938T	probably benign	Het
Vasp	A	T	7: 18,993,397 (GRCm39)		probably null	Het
Zfhx3	C	A	8: 109,683,619 (GRCm39)	T3686K	unknown	Het

Other mutations in Gli3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Gli3	APN	13	15,818,884 (GRCm39)	missense	probably damaging	1.00
IGL00471:Gli3	APN	13	15,898,354 (GRCm39)	critical splice donor site	probably null
IGL00484:Gli3	APN	13	15,818,977 (GRCm39)	missense	possibly damaging	0.84
IGL00588:Gli3	APN	13	15,818,977 (GRCm39)	missense	possibly damaging	0.84
IGL01161:Gli3	APN	13	15,722,983 (GRCm39)	critical splice acceptor site	probably null
IGL01633:Gli3	APN	13	15,823,219 (GRCm39)	missense	probably damaging	1.00
IGL01799:Gli3	APN	13	15,900,746 (GRCm39)	missense	probably benign	0.00
IGL01861:Gli3	APN	13	15,899,910 (GRCm39)	missense	probably damaging	1.00
IGL02063:Gli3	APN	13	15,900,957 (GRCm39)	missense	possibly damaging	0.94
IGL02112:Gli3	APN	13	15,837,099 (GRCm39)	missense	probably damaging	1.00
IGL02255:Gli3	APN	13	15,823,304 (GRCm39)	missense	probably damaging	1.00
IGL02270:Gli3	APN	13	15,901,371 (GRCm39)	utr 3 prime	probably benign
IGL02336:Gli3	APN	13	15,894,874 (GRCm39)	missense	probably damaging	1.00
IGL02346:Gli3	APN	13	15,898,278 (GRCm39)	missense	probably damaging	1.00
IGL02744:Gli3	APN	13	15,788,471 (GRCm39)	critical splice donor site	probably null
IGL02877:Gli3	APN	13	15,899,327 (GRCm39)	missense	probably damaging	1.00
IGL02975:Gli3	APN	13	15,899,153 (GRCm39)	missense	probably damaging	1.00
IGL03018:Gli3	APN	13	15,834,717 (GRCm39)	missense	probably damaging	1.00
IGL03378:Gli3	APN	13	15,819,005 (GRCm39)	missense	probably damaging	1.00
IGL03406:Gli3	APN	13	15,823,166 (GRCm39)	missense	probably damaging	1.00
Capone	UTSW	13	15,889,619 (GRCm39)	missense	probably damaging	1.00
Carpals	UTSW	13	15,888,235 (GRCm39)	critical splice donor site	probably null
Ness	UTSW	13	15,898,140 (GRCm39)	missense	probably damaging	1.00
FR4737:Gli3	UTSW	13	15,818,942 (GRCm39)	missense	probably damaging	1.00
R0110:Gli3	UTSW	13	15,899,370 (GRCm39)	missense	probably damaging	1.00
R0329:Gli3	UTSW	13	15,898,143 (GRCm39)	missense	probably damaging	0.98
R0330:Gli3	UTSW	13	15,898,143 (GRCm39)	missense	probably damaging	0.98
R0360:Gli3	UTSW	13	15,899,349 (GRCm39)	missense	probably benign	0.32
R0364:Gli3	UTSW	13	15,899,349 (GRCm39)	missense	probably benign	0.32
R0469:Gli3	UTSW	13	15,899,370 (GRCm39)	missense	probably damaging	1.00
R0616:Gli3	UTSW	13	15,836,991 (GRCm39)	missense	possibly damaging	0.75
R0639:Gli3	UTSW	13	15,899,300 (GRCm39)	missense	probably damaging	1.00
R1072:Gli3	UTSW	13	15,888,190 (GRCm39)	missense	probably damaging	1.00
R1257:Gli3	UTSW	13	15,900,581 (GRCm39)	nonsense	probably null
R1270:Gli3	UTSW	13	15,898,329 (GRCm39)	missense	probably benign	0.02
R1424:Gli3	UTSW	13	15,900,899 (GRCm39)	missense	probably benign	0.00
R1481:Gli3	UTSW	13	15,788,435 (GRCm39)	missense	probably damaging	0.99
R1596:Gli3	UTSW	13	15,900,056 (GRCm39)	missense	possibly damaging	0.74
R1628:Gli3	UTSW	13	15,900,897 (GRCm39)	missense	probably benign	0.00
R1721:Gli3	UTSW	13	15,900,882 (GRCm39)	missense	probably benign	0.27
R1797:Gli3	UTSW	13	15,888,097 (GRCm39)	missense	probably damaging	0.99
R1813:Gli3	UTSW	13	15,823,276 (GRCm39)	missense	probably damaging	1.00
R1819:Gli3	UTSW	13	15,900,377 (GRCm39)	nonsense	probably null
R1988:Gli3	UTSW	13	15,900,965 (GRCm39)	missense	probably benign
R2132:Gli3	UTSW	13	15,900,134 (GRCm39)	missense	possibly damaging	0.74
R2352:Gli3	UTSW	13	15,836,977 (GRCm39)	missense	probably benign	0.02
R3085:Gli3	UTSW	13	15,835,526 (GRCm39)	missense	probably damaging	1.00
R3177:Gli3	UTSW	13	15,900,567 (GRCm39)	missense	probably benign	0.28
R3277:Gli3	UTSW	13	15,900,567 (GRCm39)	missense	probably benign	0.28
R4497:Gli3	UTSW	13	15,898,156 (GRCm39)	missense	possibly damaging	0.74
R4526:Gli3	UTSW	13	15,888,216 (GRCm39)	missense	probably damaging	1.00
R4979:Gli3	UTSW	13	15,899,049 (GRCm39)	missense	possibly damaging	0.87
R5327:Gli3	UTSW	13	15,723,092 (GRCm39)	missense	probably damaging	0.99
R5395:Gli3	UTSW	13	15,889,535 (GRCm39)	missense	probably damaging	1.00
R5494:Gli3	UTSW	13	15,900,567 (GRCm39)	missense	probably benign	0.28
R5609:Gli3	UTSW	13	15,723,038 (GRCm39)	missense	possibly damaging	0.82
R5718:Gli3	UTSW	13	15,652,750 (GRCm39)	critical splice donor site	probably null
R5810:Gli3	UTSW	13	15,818,894 (GRCm39)	missense	probably damaging	0.99
R5896:Gli3	UTSW	13	15,900,765 (GRCm39)	missense	probably benign	0.00
R5930:Gli3	UTSW	13	15,723,210 (GRCm39)	missense	probably damaging	1.00
R5964:Gli3	UTSW	13	15,900,747 (GRCm39)	nonsense	probably null
R5985:Gli3	UTSW	13	15,898,140 (GRCm39)	missense	probably damaging	1.00
R6224:Gli3	UTSW	13	15,899,730 (GRCm39)	missense	probably benign
R6278:Gli3	UTSW	13	15,899,698 (GRCm39)	missense	possibly damaging	0.69
R6330:Gli3	UTSW	13	15,899,317 (GRCm39)	missense	probably damaging	1.00
R6383:Gli3	UTSW	13	15,898,140 (GRCm39)	missense	probably damaging	1.00
R6523:Gli3	UTSW	13	15,888,235 (GRCm39)	critical splice donor site	probably null
R7072:Gli3	UTSW	13	15,900,280 (GRCm39)	missense	possibly damaging	0.51
R7085:Gli3	UTSW	13	15,889,647 (GRCm39)	missense	probably damaging	1.00
R7228:Gli3	UTSW	13	15,899,087 (GRCm39)	missense	probably benign	0.00
R7327:Gli3	UTSW	13	15,900,144 (GRCm39)	missense	probably benign	0.02
R7451:Gli3	UTSW	13	15,900,876 (GRCm39)	missense	possibly damaging	0.50
R7974:Gli3	UTSW	13	15,900,841 (GRCm39)	missense	probably benign	0.00
R8167:Gli3	UTSW	13	15,900,228 (GRCm39)	missense	probably benign	0.00
R8170:Gli3	UTSW	13	15,894,793 (GRCm39)	missense	probably benign
R8199:Gli3	UTSW	13	15,900,576 (GRCm39)	missense	probably benign	0.08
R8247:Gli3	UTSW	13	15,901,360 (GRCm39)	missense	possibly damaging	0.82
R8332:Gli3	UTSW	13	15,888,133 (GRCm39)	missense	possibly damaging	0.58
R8347:Gli3	UTSW	13	15,898,110 (GRCm39)	missense	probably damaging	1.00
R8559:Gli3	UTSW	13	15,834,717 (GRCm39)	missense	probably damaging	1.00
R8676:Gli3	UTSW	13	15,889,619 (GRCm39)	missense	probably damaging	1.00
R8905:Gli3	UTSW	13	15,901,116 (GRCm39)	missense	probably benign	0.01
R9099:Gli3	UTSW	13	15,901,320 (GRCm39)	missense	probably damaging	1.00
R9260:Gli3	UTSW	13	15,899,675 (GRCm39)	missense	probably damaging	0.99
R9317:Gli3	UTSW	13	15,889,658 (GRCm39)	missense	probably damaging	1.00
R9475:Gli3	UTSW	13	15,900,296 (GRCm39)	missense	possibly damaging	0.87
R9546:Gli3	UTSW	13	15,788,443 (GRCm39)	missense	probably benign	0.00
R9571:Gli3	UTSW	13	15,900,858 (GRCm39)	missense	probably benign	0.00
R9621:Gli3	UTSW	13	15,901,253 (GRCm39)	missense	probably benign	0.01
R9704:Gli3	UTSW	13	15,898,058 (GRCm39)	missense	probably damaging	1.00
R9787:Gli3	UTSW	13	15,900,386 (GRCm39)	missense	probably damaging	0.96
RF010:Gli3	UTSW	13	15,900,954 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTGAAGACCAAGATGGC -3'
(R):5'- CAAGTTAGCATCAGCATCCATGG -3'

Sequencing Primer
(F):5'- CAAGATGGCCTTGCTAGGG -3'
(R):5'- TTAGCATCAGCATCCATGGTCAGAG -3'

Posted On

2015-06-12