Incidental Mutation 'G5030:Saal1'
Institutional Source Beutler Lab
Gene Symbol Saal1
Ensembl Gene ENSMUSG00000006763
Gene Nameserum amyloid A-like 1
Accession Numbers

Genbank: NM_030233

Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #G5030 (G3) of strain 560
Quality Score
Status Validated
Chromosomal Location46686108-46710680 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 46692783 bp
Amino Acid Change Threonine to Isoleucine at position 412 (T412I)
Ref Sequence ENSEMBL: ENSMUSP00000120658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143082]
Predicted Effect probably damaging
Transcript: ENSMUST00000143082
AA Change: T412I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120658
Gene: ENSMUSG00000006763
AA Change: T412I

low complexity region 15 24 N/A INTRINSIC
SCOP:d1gw5a_ 40 455 2e-5 SMART
low complexity region 456 465 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210791
Meta Mutation Damage Score 0.2482 question?
Coding Region Coverage
  • 1x: 81.1%
  • 3x: 60.2%
Het Detection Efficiency35.6%
Validation Efficiency 87% (206/237)
Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 110,070,339 I585F probably damaging Het
Adam18 C G 8: 24,651,856 L232F probably benign Homo
Atp13a4 A G 16: 29,455,488 I385T probably damaging Homo
Ccdc17 T A 4: 116,598,502 S277T probably benign Het
Ccng1 A G 11: 40,753,802 probably benign Het
Ces1f T C 8: 93,274,219 D99G probably benign Het
Clec16a G A 16: 10,571,561 R187Q probably damaging Homo
Cryl1 C T 14: 57,342,138 probably benign Het
Cryzl2 C T 1: 157,465,010 Q48* probably null Het
Dtx4 A G 19: 12,469,579 L583P probably benign Het
Ephx4 A T 5: 107,429,827 D339V probably damaging Het
Eri2 A T 7: 119,786,378 V300E possibly damaging Het
F3 T A 3: 121,724,999 N37K probably damaging Homo
Fpr1 A T 17: 17,876,806 L307H probably damaging Het
Fv1 T A 4: 147,869,161 N61K possibly damaging Het
Gm5548 T C 3: 113,054,196 noncoding transcript Homo
Il1r1 A G 1: 40,313,163 K498E possibly damaging Homo
Myh11 T C 16: 14,250,579 I192M probably damaging Homo
Nckap5 T C 1: 126,025,854 K923R probably damaging Het
Nmbr A T 10: 14,767,003 Y102F possibly damaging Het
Olfr790 A G 10: 129,501,537 T218A probably benign Homo
Pde1a C T 2: 79,887,836 probably benign Het
Pex6 T C 17: 46,715,456 probably benign Het
Rtn2 T C 7: 19,293,174 S305P probably damaging Homo
Slc46a2 A T 4: 59,913,867 I352N probably damaging Het
Trim37 A T 11: 87,143,141 H99L probably damaging Het
Tubgcp4 C T 2: 121,184,334 R242C probably damaging Het
Twf2 C A 9: 106,206,942 L27I possibly damaging Het
Usp40 A T 1: 87,994,219 H307Q probably damaging Het
Zfhx3 T G 8: 108,951,459 V3047G possibly damaging Het
Other mutations in Saal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02727:Saal1 APN 7 46689799 splice site probably null
IGL03301:Saal1 APN 7 46702520 splice site probably benign
R0021:Saal1 UTSW 7 46692892 missense probably damaging 0.96
R0765:Saal1 UTSW 7 46699647 missense possibly damaging 0.76
R1086:Saal1 UTSW 7 46689459 splice site probably benign
R1273:Saal1 UTSW 7 46692942 missense probably damaging 0.99
R1466:Saal1 UTSW 7 46702545 intron probably null
R1466:Saal1 UTSW 7 46702545 intron probably null
R1661:Saal1 UTSW 7 46692800 missense possibly damaging 0.93
R1695:Saal1 UTSW 7 46692916 missense probably damaging 0.97
R2018:Saal1 UTSW 7 46699489 missense possibly damaging 0.93
R2058:Saal1 UTSW 7 46699456 missense probably damaging 1.00
R2059:Saal1 UTSW 7 46699456 missense probably damaging 1.00
R2326:Saal1 UTSW 7 46692811 missense probably benign 0.02
R4182:Saal1 UTSW 7 46710652 unclassified probably benign
R4704:Saal1 UTSW 7 46699740 intron probably benign
R4831:Saal1 UTSW 7 46699647 missense probably benign 0.22
R5270:Saal1 UTSW 7 46701733 intron probably benign
R5471:Saal1 UTSW 7 46699648 missense probably benign 0.06
R5790:Saal1 UTSW 7 46701928 missense probably damaging 1.00
R6699:Saal1 UTSW 7 46692817 missense probably damaging 1.00
R6804:Saal1 UTSW 7 46699640 frame shift probably null
R6934:Saal1 UTSW 7 46702664 missense probably benign 0.00
R7863:Saal1 UTSW 7 46692903 missense probably benign 0.08
R7946:Saal1 UTSW 7 46692903 missense probably benign 0.08
R8076:Saal1 UTSW 7 46710607 missense probably benign
Nature of Mutation
DNA sequencing using the SOLiD technique identified a C to T transition at position 1254 of the Saal1 transcript in exon 10 of 12 total exons. Multiple transcripts of the Saal1 gene are displayed on Ensembl and Vega. The mutated nucleotide causes a threonine to isoleucine substitution at amino acid 412 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction

The Saal1 gene encodes a 474 amino acid protein that is phosphorylated upon DNA damage, probably by ATM or ATR. Two isoforms are produced by alternative splicing (Uniprot Q9D2C2).

The T412I change is predicted to be probably damaging by the PolyPhen program (see report).
Posted On2010-10-26