Incidental Mutation 'R6870:Siah1a'
ID 536143
Institutional Source Beutler Lab
Gene Symbol Siah1a
Ensembl Gene ENSMUSG00000036840
Gene Name siah E3 ubiquitin protein ligase 1A
Synonyms Sinh1a
MMRRC Submission 044967-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R6870 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 87450635-87472562 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87451653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 277 (V277A)
Ref Sequence ENSEMBL: ENSMUSP00000044123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045296] [ENSMUST00000155433]
AlphaFold P61092
PDB Structure siah, Seven In Absentia Homolog [X-RAY DIFFRACTION]
Protein-peptide complex [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045296
AA Change: V277A

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044123
Gene: ENSMUSG00000036840
AA Change: V277A

DomainStartEndE-ValueType
RING 41 75 5.56e-1 SMART
Pfam:Sina 82 278 1.4e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155433
SMART Domains Protein: ENSMUSP00000118737
Gene: ENSMUSG00000047866

DomainStartEndE-ValueType
Pfam:LON 12 220 3.3e-26 PFAM
low complexity region 243 255 N/A INTRINSIC
low complexity region 259 269 N/A INTRINSIC
AAA 367 512 1.59e-10 SMART
low complexity region 538 545 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 72% (39/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit retarded postnatal growth, and high preweaning and postweaning mortality. Surviving females are subfertile, having few, if any, offspring, while males are sterile due to a block at meiotic metaphase I. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,020,608 (GRCm39) Y62C probably benign Het
A1bg T C 15: 60,791,564 (GRCm39) T291A probably damaging Het
Abcb11 A G 2: 69,115,642 (GRCm39) I574T possibly damaging Het
Abcb5 T A 12: 118,929,000 (GRCm39) Y17F possibly damaging Het
Arfgef3 A T 10: 18,522,478 (GRCm39) L516* probably null Het
Arhgap21 A G 2: 20,885,321 (GRCm39) S619P probably damaging Het
Atp2c1 A G 9: 105,347,261 (GRCm39) V65A probably benign Het
Calm3 T A 7: 16,653,568 (GRCm39) Q9L probably benign Het
Cd300c2 C T 11: 114,891,503 (GRCm39) D124N probably damaging Het
Celsr3 A G 9: 108,706,390 (GRCm39) T958A probably benign Het
Cemip2 T C 19: 21,809,487 (GRCm39) S956P possibly damaging Het
Cfap69 T C 5: 5,671,958 (GRCm39) T317A probably benign Het
Cluh T A 11: 74,556,210 (GRCm39) I887K probably damaging Het
Dag1 A T 9: 108,086,457 (GRCm39) V228E probably damaging Het
Dhtkd1 T C 2: 5,924,248 (GRCm39) probably null Het
Dnah1 T A 14: 30,993,018 (GRCm39) K2959* probably null Het
Dnttip2 T A 3: 122,069,457 (GRCm39) V224E probably damaging Het
Drosha C T 15: 12,907,479 (GRCm39) P1071L probably benign Het
E030025P04Rik T A 11: 109,030,993 (GRCm39) H84L unknown Het
Elac2 A T 11: 64,890,589 (GRCm39) S698C probably null Het
Elf2 A T 3: 51,201,586 (GRCm39) *88R probably null Het
Fastkd1 T A 2: 69,538,958 (GRCm39) I143L probably benign Het
Fbxw10 C T 11: 62,746,193 (GRCm39) R366C probably damaging Het
Frg2f1 T C 4: 119,388,329 (GRCm39) M57V probably benign Het
Gbp4 T C 5: 105,273,444 (GRCm39) S129G probably damaging Het
Gnat2 A C 3: 108,002,947 (GRCm39) probably benign Het
Golgb1 C A 16: 36,738,565 (GRCm39) F2301L probably damaging Het
Il18bp T C 7: 101,666,518 (GRCm39) T2A possibly damaging Het
Kpna2 T C 11: 106,883,520 (GRCm39) probably null Het
Lrrfip2 A T 9: 111,045,187 (GRCm39) probably benign Het
Map4k1 T G 7: 28,701,096 (GRCm39) probably null Het
Mcm3ap T C 10: 76,306,049 (GRCm39) V54A probably benign Het
Nup133 A G 8: 124,626,246 (GRCm39) I1112T probably benign Het
Or8b1 A C 9: 38,399,382 (GRCm39) D19A probably benign Het
Pcdhac1 T A 18: 37,225,140 (GRCm39) V651D probably damaging Het
Pde10a A G 17: 9,186,356 (GRCm39) T571A possibly damaging Het
Phc3 A G 3: 30,990,910 (GRCm39) S403P probably damaging Het
Prl7b1 T C 13: 27,788,516 (GRCm39) E113G probably damaging Het
Psmd2 T G 16: 20,480,593 (GRCm39) M744R probably benign Het
Qrich2 T C 11: 116,346,156 (GRCm39) D1556G probably damaging Het
Septin1 C T 7: 126,816,876 (GRCm39) V46M probably benign Het
Shank2 C A 7: 143,606,197 (GRCm39) Q127K probably damaging Het
Slc4a7 T A 14: 14,733,846 (GRCm38) D85E probably damaging Het
Slc5a12 A T 2: 110,472,155 (GRCm39) I526F probably damaging Het
Svil T C 18: 5,063,231 (GRCm39) V834A possibly damaging Het
Sycp1 T A 3: 102,842,919 (GRCm39) S17C probably damaging Het
Tssk6 G A 8: 70,355,673 (GRCm39) R239Q probably benign Het
Txnrd1 A G 10: 82,709,042 (GRCm39) D80G probably benign Het
Tyk2 A G 9: 21,036,250 (GRCm39) F79S probably damaging Het
Tyrp1 T C 4: 80,769,014 (GRCm39) S503P probably benign Het
Upf1 A T 8: 70,794,211 (GRCm39) C232S probably benign Het
Zeb2 G A 2: 44,878,922 (GRCm39) T1080I probably damaging Het
Other mutations in Siah1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1575:Siah1a UTSW 8 87,451,869 (GRCm39) missense probably damaging 1.00
R2033:Siah1a UTSW 8 87,451,898 (GRCm39) missense probably damaging 1.00
R4900:Siah1a UTSW 8 87,451,703 (GRCm39) missense probably benign 0.37
R6946:Siah1a UTSW 8 87,451,770 (GRCm39) missense probably damaging 1.00
R7538:Siah1a UTSW 8 87,451,840 (GRCm39) missense probably benign 0.17
R7605:Siah1a UTSW 8 87,451,953 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTTACTACATGCAACTGTTTCCTG -3'
(R):5'- GCAATTGTACAACTGATAGGAACACG -3'

Sequencing Primer
(F):5'- ACATGCAACTGTTTCCTGTATTAAC -3'
(R):5'- CGCAAGCAAGCTGAAAATTTTGC -3'
Posted On 2018-10-18