Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00230:Mas1'

2090

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mas1

Ensembl Gene

ENSMUSG00000068037

Gene Name

MAS1 oncogene

Synonyms

Mas-1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00230

Quality Score

Status

Chromosome

Chromosomal Location

12841079-12868143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12841990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 182 (D182G)

Ref Sequence

ENSEMBL: ENSMUSP00000131341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089015] [ENSMUST00000159223] [ENSMUST00000159865] [ENSMUST00000161747] [ENSMUST00000162119] [ENSMUST00000162333] [ENSMUST00000162389] [ENSMUST00000165020] [ENSMUST00000167152]

AlphaFold

P30554

Predicted Effect

probably benign
Transcript: ENSMUST00000089015
AA Change: D182G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000086409
Gene: ENSMUSG00000068037
AA Change: D182G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	39	227	3.6e-7	PFAM
Pfam:7tm_1	48	279	3.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159223

SMART Domains

Protein: ENSMUSP00000124295
Gene: ENSMUSG00000068037

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160932

Predicted Effect

probably benign
Transcript: ENSMUST00000161747
AA Change: D182G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000123902
Gene: ENSMUSG00000068037
AA Change: D182G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	39	227	3.6e-7	PFAM
Pfam:7tm_1	48	279	3.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162119

SMART Domains

Protein: ENSMUSP00000124952
Gene: ENSMUSG00000068037

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	31	92	1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162333
AA Change: D182G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000125108
Gene: ENSMUSG00000068037
AA Change: D182G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	39	226	2.6e-7	PFAM
Pfam:7tm_1	48	279	5.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162389

SMART Domains

Protein: ENSMUSP00000124879
Gene: ENSMUSG00000068037

Domain	Start	End	E-Value	Type
SCOP:d1l9ha_	31	76	1e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165020
AA Change: D182G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000132300
Gene: ENSMUSG00000068037
AA Change: D182G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	39	227	3.6e-7	PFAM
Pfam:7tm_1	48	279	3.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167152
AA Change: D182G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000131341
Gene: ENSMUSG00000068037
AA Change: D182G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	39	227	3.6e-7	PFAM
Pfam:7tm_1	48	279	3.1e-23	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospholipase C signaling pathway. The encoded protein may play a role in multiple processes including hypotension, smooth muscle relaxation and cardioprotection by mediating the effects of angiotensin-(1-7). [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene show enhanced long term potentiation and higher levels of anxiety. They are otherwise normal and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bin1	C	T	18: 32,420,107	A215V	probably damaging	Het
Cyp2j6	C	T	4: 96,536,046	R158H	possibly damaging	Het
Dnaaf2	T	C	12: 69,196,766	D507G	probably benign	Het
Fam13b	T	C	18: 34,487,096	E245G	possibly damaging	Het
Gal3st1	A	T	11: 3,999,070		probably benign	Het
Galnt5	A	T	2: 57,998,973	Q195L	probably benign	Het
Gfm2	A	G	13: 97,155,442	T229A	probably benign	Het
Gigyf1	A	G	5: 137,522,745		probably benign	Het
Gm4353	G	T	7: 116,083,554	T264K	probably damaging	Het
Gsk3b	A	T	16: 38,228,707	I389F	probably benign	Het
Hist1h2bm	G	T	13: 21,722,375	R93L	possibly damaging	Het
Htt	A	G	5: 34,799,408	T194A	probably benign	Het
Ighg3	T	C	12: 113,359,837	Y273C	unknown	Het
Kdm5b	T	A	1: 134,620,955	V1066D	probably damaging	Het
Kif1a	G	T	1: 93,054,934	A707E	probably damaging	Het
Maats1	A	G	16: 38,336,342		probably null	Het
Mars	A	G	10: 127,298,006	M674T	probably benign	Het
Metap1d	T	A	2: 71,512,162	D178E	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Ninl	T	C	2: 150,966,241	E289G	probably damaging	Het
Pmel	G	T	10: 128,716,089	G264V	possibly damaging	Het
Ruvbl1	T	C	6: 88,484,403		probably benign	Het
Scn8a	T	A	15: 100,955,532		probably benign	Het
Sept9	T	C	11: 117,354,804		probably benign	Het
Sgpp1	G	T	12: 75,716,194	Y404*	probably null	Het
Sgsm1	T	C	5: 113,245,064	I788V	probably benign	Het
Slc13a4	A	T	6: 35,289,824	M112K	probably benign	Het
Slc22a29	T	C	19: 8,217,813	M153V	probably benign	Het
Slc9c1	T	G	16: 45,573,389	V565G	possibly damaging	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Tec	C	T	5: 72,768,768	A314T	probably damaging	Het
Tg	A	G	15: 66,827,290	I803V	probably benign	Het
Trav9-1	A	T	14: 53,488,393	I55F	probably benign	Het
Ttll12	C	A	15: 83,578,656	E536D	probably benign	Het
Ubqln1	C	A	13: 58,177,992	E152*	probably null	Het
Wwtr1	G	A	3: 57,463,491	T338I	probably benign	Het
Zdhhc16	T	C	19: 41,939,660	F206S	probably benign	Het

Other mutations in Mas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00583:Mas1	APN	17	12841965	missense	possibly damaging	0.69
IGL01805:Mas1	APN	17	12842230	missense	probably damaging	1.00
IGL03263:Mas1	APN	17	12841564	missense	possibly damaging	0.83
R0732:Mas1	UTSW	17	12841747	missense	probably benign	0.17
R1768:Mas1	UTSW	17	12841699	missense	probably damaging	1.00
R1872:Mas1	UTSW	17	12842191	missense	probably damaging	1.00
R1967:Mas1	UTSW	17	12842036	missense	probably benign	0.00
R2032:Mas1	UTSW	17	12842570	splice site	probably benign
R3851:Mas1	UTSW	17	12841993	missense	probably benign	0.01
R4120:Mas1	UTSW	17	12842346	missense	probably damaging	1.00
R7113:Mas1	UTSW	17	12842437	missense	probably benign	0.00
R7297:Mas1	UTSW	17	12841858	missense	probably damaging	1.00
R7332:Mas1	UTSW	17	12842219	missense	probably benign	0.17
R7787:Mas1	UTSW	17	12842487	missense	possibly damaging	0.94
R9072:Mas1	UTSW	17	12841952	missense	possibly damaging	0.66

Posted On

2011-12-09