Mutagenetix > Incidental Mutation

Incidental Mutation 'R5494:Gli3'

432255

Institutional Source

Beutler Lab

Gene Symbol

Gli3

Ensembl Gene

ENSMUSG00000021318

Gene Name

GLI-Kruppel family member GLI3

Synonyms

Bph, brachyphalangy

MMRRC Submission

043055-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5494 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15638308-15904611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15900567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1318 (Q1318L)

Ref Sequence

ENSEMBL: ENSMUSP00000106137 (fasta)

Gene Model

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

AlphaFold

Q61602

Predicted Effect

probably benign
Transcript: ENSMUST00000110510
AA Change: Q1318L

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: Q1318L

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: 98.3%
3x: 97.4%
10x: 95.3%
20x: 91.3%

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
Ak9	A	G	10: 41,223,165 (GRCm39)	E436G	probably damaging	Het
Aldh18a1	C	T	19: 40,539,734 (GRCm39)	R747Q	probably damaging	Het
Apob	A	G	12: 8,061,762 (GRCm39)	N3415D	probably damaging	Het
Asb18	T	C	1: 89,882,121 (GRCm39)	E139G	probably damaging	Het
Atrn	T	C	2: 130,864,995 (GRCm39)	L1374P	probably damaging	Het
Ccdc81	A	G	7: 89,526,781 (GRCm39)	S410P	probably damaging	Het
Cep112	A	G	11: 108,555,431 (GRCm39)	E809G	probably damaging	Het
Dctn1	G	T	6: 83,159,546 (GRCm39)	R8L	possibly damaging	Het
Ddn	C	A	15: 98,704,884 (GRCm39)	R82L	probably damaging	Het
Dgkz	A	T	2: 91,771,394 (GRCm39)		probably null	Het
Eif4a3l1	C	G	6: 136,306,555 (GRCm39)	R339G	probably damaging	Het
Frem1	T	C	4: 82,858,990 (GRCm39)	*415W	probably null	Het
Fry	A	T	5: 150,314,132 (GRCm39)	D789V	probably damaging	Het
Fzr1	C	T	10: 81,207,178 (GRCm39)		probably null	Het
Gemin5	T	A	11: 58,021,526 (GRCm39)	Y1025F	probably damaging	Het
Gjb5	C	T	4: 127,249,347 (GRCm39)	V266M	probably damaging	Het
Golgb1	T	A	16: 36,749,045 (GRCm39)	N3056K	possibly damaging	Het
Gucy1b1	T	A	3: 81,947,183 (GRCm39)	D342V	probably damaging	Het
H1f9	T	C	11: 94,858,843 (GRCm39)	L46S	probably benign	Het
Hc	A	T	2: 34,893,551 (GRCm39)		probably null	Het
Heg1	A	G	16: 33,545,804 (GRCm39)	D185G	probably benign	Het
Igf2r	A	T	17: 12,912,032 (GRCm39)	M1865K	possibly damaging	Het
Il27	A	G	7: 126,192,100 (GRCm39)	L12P	probably damaging	Het
Krt1	C	T	15: 101,759,149 (GRCm39)	C5Y	unknown	Het
Med25	C	T	7: 44,535,225 (GRCm39)	V170M	probably damaging	Het
Mgat4a	T	A	1: 37,493,898 (GRCm39)	Y316F	probably damaging	Het
Oas3	A	G	5: 120,899,709 (GRCm39)	V725A	unknown	Het
Or52ac1	C	A	7: 104,245,932 (GRCm39)	G152V	probably damaging	Het
Or5w16	T	C	2: 87,576,950 (GRCm39)	S137P	probably damaging	Het
Pcdhb17	T	C	18: 37,620,300 (GRCm39)	S697P	probably damaging	Het
Plch2	T	C	4: 155,075,579 (GRCm39)	Y751C	probably damaging	Het
Rbms2	G	T	10: 127,973,560 (GRCm39)	T252N	probably damaging	Het
Rbpjl	GCC	GC	2: 164,256,330 (GRCm39)		probably null	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Scfd1	A	G	12: 51,443,522 (GRCm39)		probably null	Het
Shank3	C	T	15: 89,432,441 (GRCm39)	T1062M	probably damaging	Het
Slc28a1	G	A	7: 80,817,787 (GRCm39)	G552E	probably damaging	Het
Sntn	A	G	14: 13,682,214 (GRCm38)	R96G	probably benign	Het
Tas2r102	T	C	6: 132,740,106 (GRCm39)	V338A	probably benign	Het
Trim62	A	T	4: 128,778,999 (GRCm39)	N145Y	possibly damaging	Het
Tspoap1	C	T	11: 87,666,031 (GRCm39)	T863I	possibly damaging	Het
Ubr5	C	T	15: 38,019,525 (GRCm39)	C739Y	possibly damaging	Het
Vps13c	G	A	9: 67,855,428 (GRCm39)	V2498I	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	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
R4162:Gli3	UTSW	13	15,899,700 (GRCm39)	missense	possibly damaging	0.93
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
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'- TCCATGAACAGCCCTTTAAGAC -3'
(R):5'- TGATAGCTGCCATGCTTGATG -3'

Sequencing Primer
(F):5'- CCTTTAAGACCCAGCAGTATGG -3'
(R):5'- CCATGCTTGATGGCTGGC -3'

Posted On

2016-10-05