Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01014:Gnas'

53447

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gnas

Ensembl Gene

ENSMUSG00000027523

Gene Name

GNAS complex locus

Synonyms

P2, Gnasxl, Gnas1, Nesp, neuroendocrine-specific Golgi protein p55 isoform 1, XLalphas, Gsa, Oedsml, Gs alpha, Nesp55, Galphas, Nespl, SCG6, Gs-alpha, P1, P3, G alpha s

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01014

Quality Score

Status

Chromosome

Chromosomal Location

174126113-174188537 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

C to T at 174139767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080493] [ENSMUST00000087876] [ENSMUST00000087877] [ENSMUST00000109088] [ENSMUST00000109095] [ENSMUST00000109096] [ENSMUST00000130761] [ENSMUST00000185956] [ENSMUST00000180362] [ENSMUST00000130940] [ENSMUST00000186907]

AlphaFold

Q6R0H7

Predicted Effect

unknown
Transcript: ENSMUST00000080493
AA Change: A38V

SMART Domains

Protein: ENSMUSP00000079341
Gene: ENSMUSG00000027523
AA Change: A38V

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
internal_repeat_1	89	166	3.02e-8	PROSPERO
internal_repeat_1	209	276	3.02e-8	PROSPERO
low complexity region	350	365	N/A	INTRINSIC
low complexity region	391	404	N/A	INTRINSIC
low complexity region	459	477	N/A	INTRINSIC
low complexity region	480	498	N/A	INTRINSIC
low complexity region	515	525	N/A	INTRINSIC
low complexity region	535	570	N/A	INTRINSIC
low complexity region	576	626	N/A	INTRINSIC
low complexity region	633	643	N/A	INTRINSIC
low complexity region	659	678	N/A	INTRINSIC
low complexity region	685	696	N/A	INTRINSIC
G_alpha	759	1132	5.01e-185	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000087876
AA Change: A38V

SMART Domains

Protein: ENSMUSP00000085184
Gene: ENSMUSG00000027523
AA Change: A38V

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
internal_repeat_1	89	166	2.42e-8	PROSPERO
internal_repeat_1	209	276	2.42e-8	PROSPERO
low complexity region	350	365	N/A	INTRINSIC
low complexity region	391	404	N/A	INTRINSIC
low complexity region	459	477	N/A	INTRINSIC
low complexity region	480	498	N/A	INTRINSIC
low complexity region	515	525	N/A	INTRINSIC
low complexity region	535	570	N/A	INTRINSIC
low complexity region	576	626	N/A	INTRINSIC
low complexity region	633	643	N/A	INTRINSIC
low complexity region	659	678	N/A	INTRINSIC
low complexity region	685	696	N/A	INTRINSIC
G_alpha	759	1118	8.32e-191	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000087877
AA Change: A38V

SMART Domains

Protein: ENSMUSP00000085185
Gene: ENSMUSG00000027523
AA Change: A38V

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
internal_repeat_1	89	166	1.1e-8	PROSPERO
internal_repeat_1	209	276	1.1e-8	PROSPERO
low complexity region	350	365	N/A	INTRINSIC
low complexity region	391	404	N/A	INTRINSIC
low complexity region	459	477	N/A	INTRINSIC
low complexity region	480	498	N/A	INTRINSIC
low complexity region	515	525	N/A	INTRINSIC
low complexity region	535	570	N/A	INTRINSIC
low complexity region	576	626	N/A	INTRINSIC
low complexity region	633	643	N/A	INTRINSIC
low complexity region	659	678	N/A	INTRINSIC
low complexity region	685	696	N/A	INTRINSIC
Blast:G_alpha	759	799	2e-14	BLAST
low complexity region	802	816	N/A	INTRINSIC
low complexity region	847	859	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109088

SMART Domains

Protein: ENSMUSP00000104716
Gene: ENSMUSG00000027523

Domain	Start	End	E-Value	Type
low complexity region	192	209	N/A	INTRINSIC
low complexity region	336	352	N/A	INTRINSIC
low complexity region	402	415	N/A	INTRINSIC
low complexity region	421	446	N/A	INTRINSIC
low complexity region	459	481	N/A	INTRINSIC
low complexity region	493	510	N/A	INTRINSIC
low complexity region	529	599	N/A	INTRINSIC
low complexity region	643	658	N/A	INTRINSIC
low complexity region	700	716	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109095

SMART Domains

Protein: ENSMUSP00000104723
Gene: ENSMUSG00000027523

Domain	Start	End	E-Value	Type
Pfam:NESP55	1	253	1.2e-157	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109096

SMART Domains

Protein: ENSMUSP00000104724
Gene: ENSMUSG00000027523

Domain	Start	End	E-Value	Type
Pfam:NESP55	1	253	1.2e-157	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130761

Predicted Effect

unknown
Transcript: ENSMUST00000185956
AA Change: A38V

SMART Domains

Protein: ENSMUSP00000140174
Gene: ENSMUSG00000027523
AA Change: A38V

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
internal_repeat_1	89	166	3.02e-8	PROSPERO
internal_repeat_1	209	276	3.02e-8	PROSPERO
low complexity region	350	365	N/A	INTRINSIC
low complexity region	391	404	N/A	INTRINSIC
low complexity region	459	477	N/A	INTRINSIC
low complexity region	480	498	N/A	INTRINSIC
low complexity region	515	525	N/A	INTRINSIC
low complexity region	535	570	N/A	INTRINSIC
low complexity region	576	626	N/A	INTRINSIC
low complexity region	633	643	N/A	INTRINSIC
low complexity region	659	678	N/A	INTRINSIC
low complexity region	685	696	N/A	INTRINSIC
G_alpha	759	1132	5.01e-185	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151472

Predicted Effect

probably benign
Transcript: ENSMUST00000180362

SMART Domains

Protein: ENSMUSP00000136180
Gene: ENSMUSG00000027523

Domain	Start	End	E-Value	Type
Pfam:NESP55	1	253	1.2e-157	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130940

SMART Domains

Protein: ENSMUSP00000118210
Gene: ENSMUSG00000027523

Domain	Start	End	E-Value	Type
Pfam:NESP55	1	59	1.6e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186907

SMART Domains

Protein: ENSMUSP00000139839
Gene: ENSMUSG00000027523

Domain	Start	End	E-Value	Type
low complexity region	192	209	N/A	INTRINSIC
low complexity region	336	352	N/A	INTRINSIC
low complexity region	402	415	N/A	INTRINSIC
low complexity region	421	446	N/A	INTRINSIC
low complexity region	459	481	N/A	INTRINSIC
low complexity region	493	510	N/A	INTRINSIC
low complexity region	529	599	N/A	INTRINSIC
low complexity region	643	658	N/A	INTRINSIC
low complexity region	700	716	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, which is commonly found in imprinted genes and correlates with transcript expression. This gene has an antisense transcript. One of the transcripts produced from this locus, and the antisense transcript, are both paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Additional transcript variants have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2015]
PHENOTYPE: Mutant homozygotes stop developing normally by embryonic day 10.5 and die prenatally. On some backgrounds heterozygotes show imprinted phenotypes, including differences in body shape/weight, locomotor activity, metabolism, and developmental anomalies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	G	A	7: 139,455,576 (GRCm39)	M401I	probably benign	Het
Adgra1	C	T	7: 139,455,577 (GRCm39)	H402Y	probably damaging	Het
Akap13	T	C	7: 75,400,381 (GRCm39)		probably benign	Het
Akap9	A	G	5: 4,018,683 (GRCm39)	E1088G	probably benign	Het
Aox1	T	C	1: 58,361,960 (GRCm39)	F722S	possibly damaging	Het
Arhgef39	G	A	4: 43,499,502 (GRCm39)	R36C	probably damaging	Het
Art2a	C	A	7: 101,204,115 (GRCm39)	C141F	probably damaging	Het
Brwd1	A	G	16: 95,817,373 (GRCm39)	F1380L	probably benign	Het
Cadps2	A	T	6: 23,496,873 (GRCm39)	N102K	possibly damaging	Het
Ccdc30	C	A	4: 119,250,776 (GRCm39)	R22L	possibly damaging	Het
Ccdc74a	A	T	16: 17,467,661 (GRCm39)	T200S	possibly damaging	Het
Cd200	G	A	16: 45,215,063 (GRCm39)	T196I	probably benign	Het
Cd244a	A	G	1: 171,401,856 (GRCm39)	Y194C	probably damaging	Het
Cdh23	T	C	10: 60,143,301 (GRCm39)	T3009A	probably damaging	Het
Clec12b	T	A	6: 129,362,393 (GRCm39)	N21Y	probably damaging	Het
Cntln	A	G	4: 84,968,145 (GRCm39)	E788G	probably benign	Het
Col11a1	C	T	3: 113,917,458 (GRCm39)		probably benign	Het
Cttnbp2	T	A	6: 18,423,894 (GRCm39)	N810I	probably damaging	Het
Dhx15	A	T	5: 52,309,266 (GRCm39)	V719D	probably damaging	Het
Dnah6	A	G	6: 73,051,764 (GRCm39)		probably benign	Het
Dnajc13	A	G	9: 104,080,417 (GRCm39)	I888T	probably damaging	Het
Fasn	T	C	11: 120,708,055 (GRCm39)	K666E	probably damaging	Het
Lmntd2	T	C	7: 140,793,952 (GRCm39)	Q7R	probably damaging	Het
Lmo7	G	A	14: 102,157,993 (GRCm39)		probably benign	Het
Lrrc55	A	G	2: 85,026,559 (GRCm39)	I155T	possibly damaging	Het
Meis3	C	T	7: 15,912,872 (GRCm39)		probably benign	Het
Mib2	C	T	4: 155,742,187 (GRCm39)	V334M	probably damaging	Het
Myo3a	A	G	2: 22,337,284 (GRCm39)	I386V	probably benign	Het
Neb	C	A	2: 52,177,170 (GRCm39)	M1390I	probably benign	Het
Nmd3	G	A	3: 69,633,719 (GRCm39)	V69I	probably benign	Het
Nsmce3	G	T	7: 64,522,382 (GRCm39)	D95E	possibly damaging	Het
Or4c12	T	C	2: 89,773,604 (GRCm39)	Y285C	probably damaging	Het
Or4f58	A	G	2: 111,851,477 (GRCm39)	S241P	probably damaging	Het
Or5w16	T	C	2: 87,577,469 (GRCm39)	F310L	probably benign	Het
Pde4d	T	C	13: 110,086,036 (GRCm39)	V538A	probably damaging	Het
Pgap6	T	A	17: 26,335,983 (GRCm39)		probably benign	Het
Plxnb1	A	T	9: 108,935,102 (GRCm39)	H982L	probably benign	Het
Pold2	G	T	11: 5,822,293 (GRCm39)	Q459K	probably benign	Het
Ptpn14	G	A	1: 189,554,830 (GRCm39)	R130Q	probably damaging	Het
Rnf10	A	T	5: 115,395,042 (GRCm39)	L182Q	probably damaging	Het
Syne2	G	A	12: 75,952,051 (GRCm39)	D440N	probably damaging	Het
Tlcd1	G	A	11: 78,070,283 (GRCm39)		probably null	Het
Tpte	A	T	8: 22,810,898 (GRCm39)	Y185F	probably benign	Het

Other mutations in Gnas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Gnas	APN	2	174,183,504 (GRCm39)	splice site	probably benign
IGL00928:Gnas	APN	2	174,139,746 (GRCm39)	nonsense	probably null
IGL01743:Gnas	APN	2	174,140,125 (GRCm39)	nonsense	probably null
IGL01808:Gnas	APN	2	174,140,490 (GRCm39)	missense	probably damaging	0.96
IGL02559:Gnas	APN	2	174,183,729 (GRCm39)	splice site	probably benign
R0555:Gnas	UTSW	2	174,140,304 (GRCm39)	missense	possibly damaging	0.78
R0627:Gnas	UTSW	2	174,139,928 (GRCm39)	intron	probably benign
R1418:Gnas	UTSW	2	174,187,007 (GRCm39)	splice site	probably benign
R1706:Gnas	UTSW	2	174,141,768 (GRCm39)	missense	possibly damaging	0.90
R1751:Gnas	UTSW	2	174,139,687 (GRCm39)	utr 5 prime	probably benign
R1968:Gnas	UTSW	2	174,140,526 (GRCm39)	missense	probably damaging	0.96
R2290:Gnas	UTSW	2	174,141,803 (GRCm39)	missense	probably benign	0.09
R4125:Gnas	UTSW	2	174,141,958 (GRCm39)	missense	possibly damaging	0.94
R4128:Gnas	UTSW	2	174,141,958 (GRCm39)	missense	possibly damaging	0.94
R4697:Gnas	UTSW	2	174,139,873 (GRCm39)	missense	probably damaging	1.00
R4888:Gnas	UTSW	2	174,139,882 (GRCm39)	missense	possibly damaging	0.94
R5458:Gnas	UTSW	2	174,140,124 (GRCm39)	missense	probably benign	0.41
R5640:Gnas	UTSW	2	174,126,764 (GRCm39)	missense	probably benign	0.44
R5696:Gnas	UTSW	2	174,141,468 (GRCm39)	intron	probably benign
R5757:Gnas	UTSW	2	174,187,040 (GRCm39)	missense	probably damaging	1.00
R6053:Gnas	UTSW	2	174,141,645 (GRCm39)	missense	possibly damaging	0.89
R6083:Gnas	UTSW	2	174,139,655 (GRCm39)	start codon destroyed	probably null
R6736:Gnas	UTSW	2	174,176,044 (GRCm39)	missense	probably damaging	0.98
R7074:Gnas	UTSW	2	174,126,842 (GRCm39)	missense	probably damaging	1.00
R7239:Gnas	UTSW	2	174,140,408 (GRCm39)	missense	unknown
R7541:Gnas	UTSW	2	174,139,892 (GRCm39)	missense	unknown
R7679:Gnas	UTSW	2	174,126,624 (GRCm39)	missense	probably damaging	0.99
R7694:Gnas	UTSW	2	174,142,005 (GRCm39)	missense	probably damaging	1.00
R7713:Gnas	UTSW	2	174,140,820 (GRCm39)	missense	unknown
R7834:Gnas	UTSW	2	174,140,783 (GRCm39)	nonsense	probably null
R8138:Gnas	UTSW	2	174,140,179 (GRCm39)	missense	probably benign	0.06
R8459:Gnas	UTSW	2	174,126,732 (GRCm39)	missense	probably benign	0.05
R8537:Gnas	UTSW	2	174,140,394 (GRCm39)	missense	possibly damaging	0.83
R8731:Gnas	UTSW	2	174,126,699 (GRCm39)	missense	probably benign	0.01
R8924:Gnas	UTSW	2	174,141,277 (GRCm39)	missense	unknown
R9431:Gnas	UTSW	2	174,139,826 (GRCm39)	missense	unknown
R9513:Gnas	UTSW	2	174,185,089 (GRCm39)	missense	probably damaging	0.98
R9617:Gnas	UTSW	2	174,141,988 (GRCm39)	missense	possibly damaging	0.90
R9710:Gnas	UTSW	2	174,141,132 (GRCm39)	missense	unknown
R9711:Gnas	UTSW	2	174,141,392 (GRCm39)	missense	unknown
R9762:Gnas	UTSW	2	174,140,639 (GRCm39)	nonsense	probably null
X0022:Gnas	UTSW	2	174,141,537 (GRCm39)	missense	probably benign	0.33
Z1088:Gnas	UTSW	2	174,140,166 (GRCm39)	missense	probably benign	0.27
Z1176:Gnas	UTSW	2	174,140,399 (GRCm39)	missense	unknown
Z1177:Gnas	UTSW	2	174,126,680 (GRCm39)	missense	unknown

Posted On

2013-06-28