Incidental Mutation 'R6946:Siah1a'
ID 540889
Institutional Source Beutler Lab
Gene Symbol Siah1a
Ensembl Gene ENSMUSG00000036840
Gene Name siah E3 ubiquitin protein ligase 1A
Synonyms Sinh1a
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R6946 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 87450635-87472562 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87451770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 238 (A238E)
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 probably damaging
Transcript: ENSMUST00000045296
AA Change: A238E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044123
Gene: ENSMUSG00000036840
AA Change: A238E

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
Meta Mutation Damage Score 0.7803 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 95.7%
Validation Efficiency 100% (42/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,624,953 (GRCm39) S481C probably damaging Het
Atp8a1 T C 5: 67,779,968 (GRCm39) T1142A possibly damaging Het
Atxn1l G T 8: 110,458,648 (GRCm39) P538H probably damaging Het
Carmil1 T C 13: 24,299,528 (GRCm39) N332S possibly damaging Het
Clec4b2 C T 6: 123,177,987 (GRCm39) Q101* probably null Het
Clstn2 A T 9: 97,351,875 (GRCm39) F517I probably damaging Het
Dap3 T A 3: 88,845,523 (GRCm39) probably benign Het
Dgki C A 6: 37,276,571 (GRCm39) G105* probably null Het
Dnm3 T C 1: 162,141,224 (GRCm39) E345G possibly damaging Het
Fam120a A T 13: 49,034,496 (GRCm39) S1039T possibly damaging Het
Gpr132 T A 12: 112,815,830 (GRCm39) Y332F probably benign Het
Ifi44 A T 3: 151,451,536 (GRCm39) I190N possibly damaging Het
Ighv1-42 T A 12: 114,901,155 (GRCm39) N4Y possibly damaging Het
Igll1 A G 16: 16,678,920 (GRCm39) V130A probably damaging Het
Ikzf2 T A 1: 69,616,955 (GRCm39) K137* probably null Het
Klra9 T A 6: 130,156,003 (GRCm39) I251F probably benign Het
Lrp1b T C 2: 40,587,451 (GRCm39) I166V probably benign Het
Map3k1 C T 13: 111,905,035 (GRCm39) W213* probably null Het
Map3k12 A G 15: 102,413,569 (GRCm39) M134T possibly damaging Het
Mfsd3 T A 15: 76,587,349 (GRCm39) M344K probably damaging Het
Mier2 C A 10: 79,376,673 (GRCm39) probably benign Het
Nop53 C T 7: 15,672,283 (GRCm39) R462Q probably damaging Het
Oog2 A T 4: 143,923,034 (GRCm39) D433V possibly damaging Het
Or5p76 T A 7: 108,122,528 (GRCm39) I210F probably benign Het
Or7d11 A T 9: 19,966,670 (GRCm39) L30M possibly damaging Het
Or8g30 C A 9: 39,230,315 (GRCm39) L198F probably damaging Het
Or8k38 T A 2: 86,487,932 (GRCm39) Y290F probably damaging Het
Pan2 A G 10: 128,151,506 (GRCm39) T867A probably benign Het
Pcdhb3 T A 18: 37,435,672 (GRCm39) L546Q probably damaging Het
Plcg2 A T 8: 118,230,929 (GRCm39) M4L probably benign Het
Prss21 T C 17: 24,087,138 (GRCm39) S24P possibly damaging Het
Ryr3 T C 2: 112,661,545 (GRCm39) D1815G probably damaging Het
Scd4 A G 19: 44,321,953 (GRCm39) E8G probably null Het
Sec31b T C 19: 44,522,755 (GRCm39) D79G probably damaging Het
Spag17 G A 3: 99,911,999 (GRCm39) E290K possibly damaging Het
Srl T C 16: 4,300,423 (GRCm39) I883V probably benign Het
Tas2r117 T C 6: 132,780,288 (GRCm39) L142S probably damaging Het
Trgv1 T C 13: 19,524,190 (GRCm39) L2P probably benign Het
Ttn A T 2: 76,580,199 (GRCm39) W23565R probably damaging Het
Vipr2 A T 12: 116,102,819 (GRCm39) T310S possibly damaging Het
Zfp112 A T 7: 23,824,766 (GRCm39) N245Y 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
R6870:Siah1a UTSW 8 87,451,653 (GRCm39) missense possibly damaging 0.86
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'- GGAAAGTTTTAGGTTGGCAAGC -3'
(R):5'- GACTGGGTGATGATGCAGTC -3'

Sequencing Primer
(F):5'- CAAGCAGATGGGTGCCTTATTCTC -3'
(R):5'- ATGATGCAGTCTTGTTTTGGC -3'
Posted On 2018-11-28