Incidental Mutation 'IGL01329:Saa2'
ID 74415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Saa2
Ensembl Gene ENSMUSG00000057465
Gene Name serum amyloid A 2
Synonyms Saa-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL01329
Quality Score
Status
Chromosome 7
Chromosomal Location 46401257-46403737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46402896 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P05367
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
Abcb4 T C 5: 8,944,166 (GRCm39) probably null Het
Ankib1 A T 5: 3,784,194 (GRCm39) probably benign Het
Birc2 T C 9: 7,860,733 (GRCm39) Y195C probably damaging Het
Cand2 T C 6: 115,759,755 (GRCm39) I142T probably benign Het
Cdh15 T C 8: 123,592,062 (GRCm39) probably benign Het
Ceacam5 G A 7: 17,479,534 (GRCm39) G217D probably damaging Het
Cfap54 T A 10: 92,917,385 (GRCm39) H25L unknown Het
Cfap95 A G 19: 23,630,100 (GRCm39) probably benign Het
Col22a1 A G 15: 71,778,889 (GRCm39) V266A probably benign Het
D3Ertd751e A G 3: 41,703,132 (GRCm39) D69G probably benign Het
Dnah3 T C 7: 119,622,164 (GRCm39) I1518V probably damaging Het
Entpd8 A G 2: 24,974,358 (GRCm39) K381R probably benign Het
Fli1 T A 9: 32,335,397 (GRCm39) K345I probably damaging Het
G6pd2 T C 5: 61,967,281 (GRCm39) V352A probably damaging Het
Gbp11 C T 5: 105,475,482 (GRCm39) probably null Het
Gm11992 A G 11: 9,018,383 (GRCm39) *292W probably null Het
Ifnar2 T A 16: 91,188,599 (GRCm39) probably benign Het
Impg1 T C 9: 80,230,111 (GRCm39) K661R probably benign Het
Inf2 G T 12: 112,578,290 (GRCm39) E651* probably null Het
Ints1 A G 5: 139,753,258 (GRCm39) probably benign Het
Iqcf4 T C 9: 106,447,832 (GRCm39) K26E probably benign Het
Map4k3 A G 17: 80,951,613 (GRCm39) V289A probably benign Het
Mis18bp1 T C 12: 65,205,215 (GRCm39) K319R possibly damaging Het
Nubpl T C 12: 52,352,638 (GRCm39) V291A probably damaging Het
Or4f56 A G 2: 111,703,295 (GRCm39) F302L probably benign Het
Or4k15c C T 14: 50,321,454 (GRCm39) R228H probably benign Het
Or8b57 A G 9: 40,003,324 (GRCm39) S313P possibly damaging Het
Or8k38 T C 2: 86,488,551 (GRCm39) N84D probably benign Het
Otof A G 5: 30,598,723 (GRCm39) S29P probably benign Het
Pcca A G 14: 122,927,545 (GRCm39) D436G possibly damaging Het
Rasef T A 4: 73,645,882 (GRCm39) T496S probably damaging Het
Scart1 T A 7: 139,804,552 (GRCm39) probably null Het
Scn2a A G 2: 65,547,852 (GRCm39) I1015V probably benign Het
Sim2 T C 16: 93,907,119 (GRCm39) Y154H possibly damaging Het
Spag17 A G 3: 100,002,865 (GRCm39) H1863R probably benign Het
Supt16 C T 14: 52,414,489 (GRCm39) E438K probably benign Het
Svil A G 18: 5,064,501 (GRCm39) E1111G probably benign Het
Trabd2b T C 4: 114,266,322 (GRCm39) V112A probably damaging Het
Vmn1r205 T C 13: 22,776,273 (GRCm39) I276M probably benign Het
Vps13d A T 4: 144,882,776 (GRCm39) I939N possibly damaging Het
Zc3h11a T C 1: 133,553,600 (GRCm39) M515V probably benign Het
Zfp457 T C 13: 67,442,330 (GRCm39) T82A possibly damaging Het
Other mutations in Saa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0453:Saa2 UTSW 7 46,402,902 (GRCm39) missense probably damaging 1.00
R1573:Saa2 UTSW 7 46,401,716 (GRCm39) start codon destroyed probably null 0.53
R7510:Saa2 UTSW 7 46,402,933 (GRCm39) missense probably damaging 0.98
Posted On 2013-10-07