Incidental Mutation 'IGL01329:Saa2'
ID74415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Saa2
Ensembl Gene ENSMUSG00000057465
Gene Nameserum amyloid A 2
SynonymsSaa-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL01329
Quality Score
Status
Chromosome7
Chromosomal Location46751790-46754313 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 46753472 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 49 (D49G)
Ref Sequence ENSEMBL: ENSMUSP00000147751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075982] [ENSMUST00000210272] [ENSMUST00000210769]
Predicted Effect probably benign
Transcript: ENSMUST00000075982
AA Change: D49G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075365
Gene: ENSMUSG00000057465
AA Change: D49G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SAA 21 122 2.29e-77 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210272
AA Change: D15G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210769
AA Change: D49G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211766
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: The CE/J strain produces a mutant form of Saa2 and is not susceptible to amyloidosis, as are mice of most other inbred strains. M. caroli, M. spretus and M.m. Czech produce variant Saa2 isoforms and M.m. Czech is also reistant to amyloidosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik A G 19: 23,652,736 probably benign Het
Abcb4 T C 5: 8,894,166 probably null Het
Ankib1 A T 5: 3,734,194 probably benign Het
Birc3 T C 9: 7,860,732 Y195C probably damaging Het
Cand2 T C 6: 115,782,794 I142T probably benign Het
Cd163l1 T A 7: 140,224,639 probably null Het
Cdh15 T C 8: 122,865,323 probably benign Het
Ceacam5 G A 7: 17,745,609 G217D probably damaging Het
Cfap54 T A 10: 93,081,523 H25L unknown Het
Col22a1 A G 15: 71,907,040 V266A probably benign Het
D3Ertd751e A G 3: 41,748,697 D69G probably benign Het
Dnah3 T C 7: 120,022,941 I1518V probably damaging Het
Entpd8 A G 2: 25,084,346 K381R probably benign Het
Fli1 T A 9: 32,424,101 K345I probably damaging Het
G6pd2 T C 5: 61,809,938 V352A probably damaging Het
Gbp11 C T 5: 105,327,616 probably null Het
Gm11992 A G 11: 9,068,383 *292W probably null Het
Ifnar2 T A 16: 91,391,711 probably benign Het
Impg1 T C 9: 80,322,829 K661R probably benign Het
Inf2 G T 12: 112,611,856 E651* probably null Het
Ints1 A G 5: 139,767,503 probably benign Het
Iqcf4 T C 9: 106,570,633 K26E probably benign Het
Map4k3 A G 17: 80,644,184 V289A probably benign Het
Mis18bp1 T C 12: 65,158,441 K319R possibly damaging Het
Nubpl T C 12: 52,305,855 V291A probably damaging Het
Olfr1085 T C 2: 86,658,207 N84D probably benign Het
Olfr1305 A G 2: 111,872,950 F302L probably benign Het
Olfr726 C T 14: 50,083,997 R228H probably benign Het
Olfr983 A G 9: 40,092,028 S313P possibly damaging Het
Otof A G 5: 30,441,379 S29P probably benign Het
Pcca A G 14: 122,690,133 D436G possibly damaging Het
Rasef T A 4: 73,727,645 T496S probably damaging Het
Scn2a A G 2: 65,717,508 I1015V probably benign Het
Sim2 T C 16: 94,106,260 Y154H possibly damaging Het
Spag17 A G 3: 100,095,549 H1863R probably benign Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Svil A G 18: 5,064,501 E1111G probably benign Het
Trabd2b T C 4: 114,409,125 V112A probably damaging Het
Vmn1r205 T C 13: 22,592,103 I276M probably benign Het
Vps13d A T 4: 145,156,206 I939N possibly damaging Het
Zc3h11a T C 1: 133,625,862 M515V probably benign Het
Zfp457 T C 13: 67,294,266 T82A possibly damaging Het
Other mutations in Saa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0453:Saa2 UTSW 7 46753478 missense probably damaging 1.00
R1573:Saa2 UTSW 7 46752292 start codon destroyed probably null 0.53
R7510:Saa2 UTSW 7 46753509 missense probably damaging 0.98
Posted On2013-10-07