Incidental Mutation 'IGL01805:Mas1'
ID155654
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 #IGL01805
Quality Score
Status
Chromosome17
Chromosomal Location12841079-12868143 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12842230 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 102 (Y102C)
Ref Sequence ENSEMBL: ENSMUSP00000124952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089015] [ENSMUST00000159223] [ENSMUST00000159865] [ENSMUST00000161747] [ENSMUST00000162119] [ENSMUST00000162333] [ENSMUST00000162389] [ENSMUST00000165020] [ENSMUST00000167152]
Predicted Effect probably damaging
Transcript: ENSMUST00000089015
AA Change: Y102C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086409
Gene: ENSMUSG00000068037
AA Change: Y102C

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 damaging
Transcript: ENSMUST00000161747
AA Change: Y102C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123902
Gene: ENSMUSG00000068037
AA Change: Y102C

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 39 227 3.6e-7 PFAM
Pfam:7tm_1 48 279 3.1e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162119
AA Change: Y102C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124952
Gene: ENSMUSG00000068037
AA Change: Y102C

DomainStartEndE-ValueType
SCOP:d1l9ha_ 31 92 1e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162333
AA Change: Y102C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125108
Gene: ENSMUSG00000068037
AA Change: Y102C

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 damaging
Transcript: ENSMUST00000165020
AA Change: Y102C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132300
Gene: ENSMUSG00000068037
AA Change: Y102C

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 39 227 3.6e-7 PFAM
Pfam:7tm_1 48 279 3.1e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167152
AA Change: Y102C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131341
Gene: ENSMUSG00000068037
AA Change: Y102C

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,925,518 D17G possibly damaging Het
Adam28 G T 14: 68,642,091 S169R probably benign Het
Aox1 T C 1: 58,081,513 M855T possibly damaging Het
Apc C A 18: 34,318,218 N2688K probably benign Het
Arhgap23 T A 11: 97,492,602 probably benign Het
Bpifa6 A G 2: 153,984,912 T66A probably benign Het
C1qtnf1 T A 11: 118,448,167 L221Q probably damaging Het
Ccdc175 T A 12: 72,129,229 probably benign Het
Ccl1 C A 11: 82,178,132 M26I possibly damaging Het
D17Wsu92e C T 17: 27,767,906 probably benign Het
Dnah10 T A 5: 124,783,921 F2123I probably damaging Het
Dpcr1 T A 17: 35,637,643 T355S possibly damaging Het
Fancm T C 12: 65,113,861 probably null Het
Fstl4 C A 11: 53,186,357 A647E probably damaging Het
Hmgb4 G T 4: 128,260,222 probably benign Het
Hr A T 14: 70,565,297 probably benign Het
Kcna4 G T 2: 107,296,498 V526L probably damaging Het
Mul1 C T 4: 138,439,663 P343S possibly damaging Het
Obscn T C 11: 59,132,596 S652G probably damaging Het
Olfr972 T C 9: 39,873,779 F168S probably damaging Het
Pjvk A T 2: 76,657,514 N250I probably benign Het
Pkd2 T C 5: 104,483,093 I461T probably benign Het
Psen2 T C 1: 180,229,838 probably null Het
Ralb T C 1: 119,475,995 E81G probably benign Het
Slc15a4 T C 5: 127,608,836 T261A possibly damaging Het
Vmn2r77 G A 7: 86,811,187 V574M probably benign Het
Xrn2 A G 2: 147,028,143 I251V probably damaging Het
Zfp974 G A 7: 27,912,264 probably benign Het
Other mutations in Mas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Mas1 APN 17 12841990 missense probably benign 0.00
IGL00583:Mas1 APN 17 12841965 missense possibly damaging 0.69
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 On2014-02-04