Mutagenetix > Incidental Mutation

Incidental Mutation 'R6278:Gli3'

507793

Institutional Source

Beutler Lab

Gene Symbol

Gli3

Ensembl Gene

ENSMUSG00000021318

Gene Name

GLI-Kruppel family member GLI3

Synonyms

Bph, brachyphalangy

MMRRC Submission

044448-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6278 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15638308-15904611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15899698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1028 (N1028K)

Ref Sequence

ENSEMBL: ENSMUSP00000106137 (fasta)

Gene Model

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

AlphaFold

Q61602

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110510
AA Change: N1028K

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106137
Gene: ENSMUSG00000021318
AA Change: N1028K

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

100% (49/49)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	T	C	7: 119,373,072 (GRCm39)	S192P	probably damaging	Het
Amy1	T	A	3: 113,355,339 (GRCm39)	Y348F	probably damaging	Het
Brpf3	C	A	17: 29,040,258 (GRCm39)	P893H	probably benign	Het
Cage1	T	C	13: 38,200,395 (GRCm39)	T702A	possibly damaging	Het
Cdk11b	A	G	4: 155,734,060 (GRCm39)		probably benign	Het
Cdk5rap3	T	C	11: 96,802,729 (GRCm39)	Y207C	probably damaging	Het
Cenpc1	T	C	5: 86,183,394 (GRCm39)	K465R	probably damaging	Het
Cldn14	A	C	16: 93,716,486 (GRCm39)	L120R	possibly damaging	Het
Cyp2c69	A	T	19: 39,831,507 (GRCm39)	C435*	probably null	Het
Dmxl2	T	A	9: 54,323,046 (GRCm39)	E1446V	probably damaging	Het
Dnah17	T	A	11: 118,017,116 (GRCm39)	D208V	probably damaging	Het
Eif4g3	G	T	4: 137,915,394 (GRCm39)	G1430V	possibly damaging	Het
Eif5	T	A	12: 111,509,227 (GRCm39)	D284E	probably benign	Het
Fam47e	T	C	5: 92,710,376 (GRCm39)	L125P	probably damaging	Het
Far1	A	G	7: 113,167,344 (GRCm39)	I476M	probably benign	Het
Fsip2	A	T	2: 82,819,242 (GRCm39)	I4992L	probably benign	Het
Gucy1a1	T	C	3: 82,004,941 (GRCm39)	K615E	probably damaging	Het
Gykl1	G	T	18: 52,828,280 (GRCm39)	S496I	probably benign	Het
Hmcn1	C	T	1: 150,573,170 (GRCm39)		probably null	Het
Itga2	T	A	13: 114,982,424 (GRCm39)	H1027L	probably benign	Het
Kif24	A	T	4: 41,423,498 (GRCm39)	V251E	probably damaging	Het
Nupr1	T	C	7: 126,224,518 (GRCm39)	Y30C	probably damaging	Het
Or5b119	T	A	19: 13,457,119 (GRCm39)	M148L	probably benign	Het
Or5g29	A	G	2: 85,421,342 (GRCm39)	I153V	probably benign	Het
Or5w14	A	T	2: 87,541,815 (GRCm39)	L145*	probably null	Het
Or8g26	T	A	9: 39,095,594 (GRCm39)	I40N	probably damaging	Het
P2ry1	T	A	3: 60,911,215 (GRCm39)	I118N	possibly damaging	Het
Pcdh1	C	T	18: 38,332,263 (GRCm39)	V247M	probably benign	Het
Pdia5	A	G	16: 35,250,293 (GRCm39)	V222A	possibly damaging	Het
Plce1	G	A	19: 38,713,495 (GRCm39)		probably null	Het
Ppm1m	T	C	9: 106,074,427 (GRCm39)	R239G	probably damaging	Het
Pramel30	C	T	4: 144,056,837 (GRCm39)	P7S	probably damaging	Het
Prkcz	A	T	4: 155,352,652 (GRCm39)	F492I	probably damaging	Het
Rpl6	T	C	5: 121,346,912 (GRCm39)	I269T	possibly damaging	Het
Scoc	T	C	8: 84,184,965 (GRCm39)	S2G	unknown	Het
Spesp1	A	T	9: 62,179,921 (GRCm39)	M329K	probably benign	Het
Ston2	T	C	12: 91,615,104 (GRCm39)	K435E	probably damaging	Het
Synj2	A	T	17: 6,026,149 (GRCm39)	L69F	probably damaging	Het
Tigd5	T	C	15: 75,781,842 (GRCm39)	I68T	probably damaging	Het
Tmcc2	A	T	1: 132,286,720 (GRCm39)	M577K	probably damaging	Het
Tmem131l	A	T	3: 83,849,798 (GRCm39)	I263N	possibly damaging	Het
Trip13	T	C	13: 74,061,439 (GRCm39)	E408G	probably benign	Het
Txnl4b	T	C	8: 110,295,735 (GRCm39)		probably null	Het
Ube2o	T	C	11: 116,430,369 (GRCm39)	E1123G	probably damaging	Het
Vmn1r123	A	G	7: 20,896,774 (GRCm39)	H222R	possibly damaging	Het
Vmn2r73	G	T	7: 85,522,140 (GRCm39)	H66Q	probably benign	Het
Zc3h13	T	A	14: 75,567,863 (GRCm39)	V1052D	probably benign	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
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
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'- TCAAGTTAGCATCAGCATCCATGG -3'

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

Posted On

2018-03-15