Incidental Mutation 'R5315:Ace3'
ID405806
Institutional Source Beutler Lab
Gene Symbol Ace3
Ensembl Gene ENSMUSG00000101605
Gene Nameangiotensin I converting enzyme (peptidyl-dipeptidase A) 3
SynonymsEG217246
MMRRC Submission 042898-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.224) question?
Stock #R5315 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location105994675-106005443 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105994921 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 51 (V51A)
Ref Sequence ENSEMBL: ENSMUSP00000140827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001963] [ENSMUST00000190995]
Predicted Effect probably benign
Transcript: ENSMUST00000001963
SMART Domains Protein: ENSMUSP00000001963
Gene: ENSMUSG00000020681

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:Peptidase_M2 45 628 7.1e-257 PFAM
Pfam:Peptidase_M2 648 1226 8.9e-261 PFAM
transmembrane domain 1264 1286 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190995
AA Change: V51A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000140827
Gene: ENSMUSG00000101605
AA Change: V51A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Peptidase_M2 25 616 2e-265 PFAM
transmembrane domain 638 660 N/A INTRINSIC
transmembrane domain 700 722 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.1%
  • 20x: 97.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Male mice homozygous for a knock-out allele exhibit normal sperm number, motility, and fertilization ability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130204L05Rik G A 3: 91,090,330 T26M possibly damaging Het
Ass1 A T 2: 31,492,329 I171F probably benign Het
AU041133 T G 10: 82,151,672 Y386* probably null Het
Bex6 A G 16: 32,186,493 N40D probably benign Het
Cc2d2a A G 5: 43,720,433 Y1044C probably damaging Het
Cflar C G 1: 58,753,802 D442E probably benign Het
Dag1 A G 9: 108,209,117 V275A probably damaging Het
Dnah17 G A 11: 118,127,283 R129W possibly damaging Het
Epha4 C T 1: 77,388,472 probably null Het
Eri2 T C 7: 119,786,018 D420G probably benign Het
Gm42669 A T 5: 107,508,237 I1301F probably damaging Het
Golga2 A G 2: 32,303,761 E463G probably damaging Het
Grsf1 G A 5: 88,673,775 probably benign Het
Igkv6-15 A C 6: 70,406,973 V7G possibly damaging Het
Katnal2 A T 18: 77,012,009 V143D probably benign Het
Mepce A C 5: 137,782,693 I617S probably damaging Het
Mms19 C T 19: 41,954,762 R320Q possibly damaging Het
Nt5c2 T C 19: 46,892,243 Y353C probably damaging Het
Olfr284 G A 15: 98,340,365 A208V probably benign Het
Olfr502 A G 7: 108,523,890 L20S probably damaging Het
Pitpnm2 A T 5: 124,121,933 D1111E probably benign Het
Plin5 C A 17: 56,114,066 V200L probably benign Het
Rab3a T C 8: 70,755,922 F23L probably damaging Het
Rrp8 T C 7: 105,734,000 K353R probably benign Het
Senp7 A G 16: 56,180,526 D887G probably benign Het
Sftpb G T 6: 72,306,892 A158S probably benign Het
Sh2d2a A C 3: 87,847,669 T23P probably damaging Het
Siglecf T C 7: 43,355,108 L287P probably benign Het
Slc4a1 T A 11: 102,358,254 I233F possibly damaging Het
Spef2 T C 15: 9,596,691 Q1424R probably damaging Het
Tbc1d14 T C 5: 36,507,588 D567G probably damaging Het
Tmem106b T G 6: 13,081,560 N155K probably damaging Het
Vmn2r2 C A 3: 64,116,956 V735F probably benign Het
Zfp850 T C 7: 27,990,318 K155R probably benign Het
Other mutations in Ace3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1932:Ace3 UTSW 11 106004610 critical splice donor site probably null
R4074:Ace3 UTSW 11 105997214 missense probably damaging 1.00
R4415:Ace3 UTSW 11 106005121 missense probably benign 0.11
R5325:Ace3 UTSW 11 106005253 missense probably benign
R5846:Ace3 UTSW 11 105998362 missense probably benign 0.06
R5866:Ace3 UTSW 11 105997504 missense probably damaging 0.99
R6122:Ace3 UTSW 11 105994938 missense probably benign 0.08
R6160:Ace3 UTSW 11 105994732 missense possibly damaging 0.51
R6815:Ace3 UTSW 11 105997258 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GACAAGCTTAAGTACGGCTGGG -3'
(R):5'- AGAGCTCTGGAACTCACAGC -3'

Sequencing Primer
(F):5'- CTTAAGTACGGCTGGGACCTG -3'
(R):5'- TTCCATACACTCTGGACATAGGG -3'
Posted On2016-07-22