Incidental Mutation 'IGL00230:Mas1'
ID2090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mas1
Ensembl Gene ENSMUSG00000068037
Gene NameMAS1 oncogene
SynonymsMas-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00230
Quality Score
Status
Chromosome17
Chromosomal Location12841079-12868143 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12841990 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
Posted On2011-12-09