Mutagenetix > Incidental Mutation

Incidental Mutation 'R5609:Gli3'

437987

Institutional Source

Beutler Lab

Gene Symbol

Gli3

Ensembl Gene

ENSMUSG00000021318

Gene Name

GLI-Kruppel family member GLI3

Synonyms

Bph, brachyphalangy

MMRRC Submission

043158-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5609 (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 15723038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 60 (M60L)

Ref Sequence

ENSEMBL: ENSMUSP00000106137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110510] [ENSMUST00000130065] [ENSMUST00000141194]

AlphaFold

Q61602

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110510
AA Change: M60L

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: M60L

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 benign
Transcript: ENSMUST00000130065
AA Change: M60L

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000115989
Gene: ENSMUSG00000021318
AA Change: M60L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130535

Predicted Effect

probably benign
Transcript: ENSMUST00000141194

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,353,874 (GRCm39)	I3732T	probably benign	Het
Ago1	C	A	4: 126,354,830 (GRCm39)	K127N	possibly damaging	Het
Akap8l	T	C	17: 32,557,374 (GRCm39)	N79S	probably damaging	Het
Ano5	T	C	7: 51,243,385 (GRCm39)	L836P	probably damaging	Het
AY358078	A	G	14: 52,042,065 (GRCm39)	T147A	unknown	Het
Cabp4	T	C	19: 4,189,251 (GRCm39)	D102G	probably benign	Het
Cdc34	C	T	10: 79,520,655 (GRCm39)	R61C	probably damaging	Het
Chac1	A	G	2: 119,181,887 (GRCm39)	K2E	unknown	Het
Cltc	C	T	11: 86,621,093 (GRCm39)	V305I	probably damaging	Het
Cog7	T	C	7: 121,524,683 (GRCm39)	T704A	probably benign	Het
Cux1	A	G	5: 136,421,174 (GRCm39)	V184A	probably damaging	Het
Daglb	A	T	5: 143,464,274 (GRCm39)	T262S	probably benign	Het
Dglucy	A	G	12: 100,753,905 (GRCm39)	I12V	probably null	Het
Dnah7a	A	G	1: 53,621,753 (GRCm39)	V1124A	probably benign	Het
Eef2	C	CN	10: 81,014,603 (GRCm39)		probably null	Het
Eif3k	C	A	7: 28,681,133 (GRCm39)	A9S	probably benign	Het
Elapor1	T	A	3: 108,378,731 (GRCm39)	I408F	probably damaging	Het
Hk1	C	T	10: 62,178,330 (GRCm39)	E4K	probably benign	Het
Kmt2b	C	A	7: 30,276,570 (GRCm39)	V1701L	probably damaging	Het
Lrp1b	T	C	2: 41,231,807 (GRCm39)	H1107R	probably damaging	Het
Lypd10	A	T	7: 24,413,711 (GRCm39)	R242S	possibly damaging	Het
Ncor1	A	G	11: 62,249,679 (GRCm39)		probably null	Het
Or5h23	T	A	16: 58,906,439 (GRCm39)	M136L	possibly damaging	Het
Or6c70	T	G	10: 129,710,607 (GRCm39)	R6S	probably benign	Het
Plekhg4	G	A	8: 106,106,134 (GRCm39)		probably null	Het
Pmfbp1	G	T	8: 110,251,739 (GRCm39)	E327D	probably damaging	Het
Slc22a17	G	A	14: 55,146,427 (GRCm39)	P63L	probably damaging	Het
Slc37a1	G	A	17: 31,556,982 (GRCm39)	V383M	possibly damaging	Het
Slc9a9	T	A	9: 94,691,990 (GRCm39)	Y182N	probably damaging	Het
Slx4ip	A	G	2: 136,842,162 (GRCm39)	D29G	probably damaging	Het
St3gal5	T	C	6: 72,130,446 (GRCm39)	V319A	possibly damaging	Het
Tbc1d10c	C	T	19: 4,239,881 (GRCm39)	M76I	possibly damaging	Het
Thrb	C	A	14: 18,033,526 (GRCm38)	H416N	probably benign	Het
Timp2	T	A	11: 118,210,987 (GRCm39)	D60V	probably damaging	Het
Ubxn6	C	T	17: 56,376,745 (GRCm39)	E216K	probably benign	Het
Unc79	T	C	12: 103,094,527 (GRCm39)	M1977T	probably benign	Het
Uri1	G	A	7: 37,662,954 (GRCm39)	R347*	probably null	Het
Vmn1r73	G	A	7: 11,490,591 (GRCm39)	W136*	probably null	Het
Vmn2r124	T	C	17: 18,294,102 (GRCm39)	Y730H	probably benign	Het
Wnk4	C	T	11: 101,166,462 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,468,679 (GRCm39)	N2971D	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
R5494:Gli3	UTSW	13	15,900,567 (GRCm39)	missense	probably benign	0.28
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'- TTTTGCAAGTATCCCGCCACAG -3'
(R):5'- TGAGGCTCCATGTAGCCATTC -3'

Sequencing Primer
(F):5'- GTATCCCGCCACAGGTATGAATTTAC -3'
(R):5'- ATGTAGCCATTCCGGGGATC -3'

Posted On

2016-10-26