Incidental Mutation 'R3738:Saa4'
ID 270234
Institutional Source Beutler Lab
Gene Symbol Saa4
Ensembl Gene ENSMUSG00000040017
Gene Name serum amyloid A 4
Synonyms Saa-4, Saa-5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R3738 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 46377422-46382027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46379053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 96 (N96Y)
Ref Sequence ENSEMBL: ENSMUSP00000006952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006952]
AlphaFold P31532
Predicted Effect possibly damaging
Transcript: ENSMUST00000006952
AA Change: N96Y

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000006952
Gene: ENSMUSG00000040017
AA Change: N96Y

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
SAA 21 130 1.99e-86 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the neighboring serum amyloid A2 and serum amyloid A4 genes on chromosome 11. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Abcb8 A G 5: 24,605,619 (GRCm39) S168G probably benign Het
Ankrd11 A G 8: 123,623,454 (GRCm39) probably benign Het
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Atp8b1 A G 18: 64,666,800 (GRCm39) probably benign Het
Camk2d A G 3: 126,565,488 (GRCm39) D136G probably damaging Het
Capn3 G A 2: 120,315,768 (GRCm39) D227N possibly damaging Het
Ccdc168 A G 1: 44,098,026 (GRCm39) V1024A probably benign Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Dlgap3 A G 4: 127,089,399 (GRCm39) T332A probably damaging Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Fbxw18 T A 9: 109,517,981 (GRCm39) Y335F possibly damaging Het
Gbp10 T A 5: 105,372,324 (GRCm39) E145D possibly damaging Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Insig1 T A 5: 28,276,701 (GRCm39) I89N probably damaging Het
Itpkc T A 7: 26,927,029 (GRCm39) D295V possibly damaging Het
Jak1 T C 4: 101,048,665 (GRCm39) probably benign Het
Kctd9 G A 14: 67,971,737 (GRCm39) D157N possibly damaging Het
Kmt2c A C 5: 25,610,381 (GRCm39) F242V probably benign Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Lin54 T C 5: 100,607,665 (GRCm39) probably benign Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Myh9 G A 15: 77,651,012 (GRCm39) R1612C probably damaging Het
Nr1d2 T A 14: 18,211,804 (GRCm38) N433I possibly damaging Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Or4c112 T C 2: 88,853,954 (GRCm39) Y131C probably damaging Het
Or4l15 T C 14: 50,198,013 (GRCm39) N172S possibly damaging Het
Pld4 T C 12: 112,734,469 (GRCm39) I410T probably benign Het
Pnma8b C T 7: 16,680,521 (GRCm39) H502Y probably benign Het
Pramel12 T C 4: 143,143,212 (GRCm39) probably benign Het
Rbbp8nl G T 2: 179,923,041 (GRCm39) T184K probably benign Het
Serpinb6d T A 13: 33,851,663 (GRCm39) V140E probably damaging Het
Ska3 A T 14: 58,049,053 (GRCm39) M306K probably benign Het
Slfn4 T C 11: 83,076,137 (GRCm39) M1T probably null Het
Sorcs1 T C 19: 50,139,659 (GRCm39) I1168V probably benign Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Trim9 T C 12: 70,297,969 (GRCm39) T579A probably damaging Het
Trpc2 G A 7: 101,733,711 (GRCm39) S220N probably damaging Het
Ube2j1 A T 4: 33,036,723 (GRCm39) M16L probably benign Het
Usp42 C T 5: 143,701,194 (GRCm39) S943N probably benign Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn2r62 G A 7: 42,437,311 (GRCm39) P391L probably benign Het
Zfa-ps T A 10: 52,420,636 (GRCm39) noncoding transcript Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R probably damaging Het
Other mutations in Saa4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Saa4 APN 7 46,381,060 (GRCm39) missense possibly damaging 0.89
R3739:Saa4 UTSW 7 46,379,053 (GRCm39) missense possibly damaging 0.72
R4701:Saa4 UTSW 7 46,381,051 (GRCm39) missense possibly damaging 0.86
R8315:Saa4 UTSW 7 46,379,052 (GRCm39) missense possibly damaging 0.84
R9747:Saa4 UTSW 7 46,381,077 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGACACCAAGCTGAGTGAC -3'
(R):5'- GGGCCTTGACCAAGAAACTAATAC -3'

Sequencing Primer
(F):5'- CTATCACAGAGAGAGGCTTGTGGC -3'
(R):5'- TCTGTGCCTTAGCCTTTACTG -3'
Posted On 2015-03-18