Incidental Mutation 'R1575:Siah1a'
ID 171104
Institutional Source Beutler Lab
Gene Symbol Siah1a
Ensembl Gene ENSMUSG00000036840
Gene Name siah E3 ubiquitin protein ligase 1A
Synonyms Sinh1a
MMRRC Submission 039613-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R1575 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 87450635-87472562 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87451869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 205 (F205S)
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: F205S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044123
Gene: ENSMUSG00000036840
AA Change: F205S

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 0.9734 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 100% (72/72)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 T A 3: 148,558,398 (GRCm39) T437S probably benign Het
Akna A G 4: 63,297,570 (GRCm39) F828S probably benign Het
Alg9 G T 9: 50,686,802 (GRCm39) A40S possibly damaging Het
Alox8 T A 11: 69,076,067 (GRCm39) H628L possibly damaging Het
Aox3 T C 1: 58,191,713 (GRCm39) W422R probably benign Het
Atp13a4 T C 16: 29,228,528 (GRCm39) D984G probably benign Het
Bcam T C 7: 19,494,307 (GRCm39) E363G possibly damaging Het
Cadps2 C A 6: 23,429,217 (GRCm39) V519F probably damaging Het
Calca A G 7: 114,234,396 (GRCm39) Y18H probably damaging Het
Cd70 A G 17: 57,453,364 (GRCm39) I100T probably damaging Het
Cdk4 T A 10: 126,900,520 (GRCm39) H95Q probably damaging Het
Chchd1 T A 14: 20,753,410 (GRCm39) N11K probably damaging Het
Cma2 T A 14: 56,210,272 (GRCm39) N52K probably damaging Het
Cyp3a16 A G 5: 145,373,267 (GRCm39) V500A probably benign Het
Dicer1 A G 12: 104,688,228 (GRCm39) probably null Het
Dnajc13 A G 9: 104,034,037 (GRCm39) S2206P probably benign Het
Dtl T C 1: 191,293,658 (GRCm39) probably null Het
Fam186b T C 15: 99,184,852 (GRCm39) T24A probably benign Het
Fbxw21 A G 9: 108,990,984 (GRCm39) V25A probably benign Het
Gins1 T C 2: 150,754,758 (GRCm39) S45P probably benign Het
Gtpbp2 T A 17: 46,476,869 (GRCm39) V349D probably damaging Het
Hyal5 G T 6: 24,876,792 (GRCm39) D222Y probably damaging Het
Itgal A G 7: 126,900,060 (GRCm39) probably null Het
Klk14 A G 7: 43,343,377 (GRCm39) probably null Het
Lama1 T A 17: 68,117,404 (GRCm39) L2518Q possibly damaging Het
Lrrc2 G A 9: 110,808,555 (GRCm39) G264D probably benign Het
Ltbp4 A G 7: 27,022,245 (GRCm39) S893P probably damaging Het
Mast4 G A 13: 102,875,771 (GRCm39) P1107L probably damaging Het
Mbd1 T A 18: 74,408,490 (GRCm39) probably null Het
Naip2 A T 13: 100,291,529 (GRCm39) D1136E probably benign Het
Naip2 G A 13: 100,291,537 (GRCm39) probably benign Het
Ncan G A 8: 70,562,848 (GRCm39) T470I probably benign Het
Npy1r A T 8: 67,156,813 (GRCm39) I78F probably damaging Het
Or10q1b A T 19: 13,682,889 (GRCm39) M233L probably benign Het
Or8b52 G A 9: 38,576,573 (GRCm39) T189M probably damaging Het
Palb2 A T 7: 121,710,061 (GRCm39) probably null Het
Pax3 T C 1: 78,080,121 (GRCm39) T422A probably benign Het
Pebp1 A T 5: 117,424,229 (GRCm39) D72E possibly damaging Het
Pnliprp1 A T 19: 58,728,901 (GRCm39) T363S probably benign Het
Rbm44 G A 1: 91,084,565 (GRCm39) probably null Het
Rbm47 T A 5: 66,182,358 (GRCm39) Y425F probably benign Het
Robo3 G T 9: 37,340,957 (GRCm39) A83E probably damaging Het
Rrm1 A G 7: 102,105,721 (GRCm39) Y279C probably damaging Het
Rslcan18 A T 13: 67,256,121 (GRCm39) probably benign Het
Scara5 C A 14: 65,968,314 (GRCm39) Q196K probably benign Het
Setd1b C T 5: 123,301,210 (GRCm39) probably benign Het
Smr2 AT ATT 5: 88,256,683 (GRCm39) probably null Het
Ssu72 A G 4: 155,815,814 (GRCm39) D86G probably benign Het
St7 G T 6: 17,886,110 (GRCm39) K357N probably damaging Het
Sv2b G A 7: 74,797,425 (GRCm39) T323I probably damaging Het
Syt1 T C 10: 108,340,361 (GRCm39) N319S probably benign Het
Tanc1 T A 2: 59,621,995 (GRCm39) F371L probably damaging Het
Tcf20 C A 15: 82,739,693 (GRCm39) G586V probably benign Het
Tg T C 15: 66,601,534 (GRCm39) probably null Het
Tyk2 A T 9: 21,026,758 (GRCm39) N620K probably benign Het
Ube2j1 T A 4: 33,045,116 (GRCm39) S130T probably benign Het
Ubr2 G T 17: 47,243,418 (GRCm39) P1696H probably damaging Het
Ubr5 A T 15: 38,041,085 (GRCm39) D266E probably damaging Het
Vipr2 A G 12: 116,107,892 (GRCm39) T426A probably benign Het
Vmn2r104 A T 17: 20,262,477 (GRCm39) W218R probably damaging Het
Vmn2r83 T A 10: 79,314,956 (GRCm39) N401K probably damaging Het
Vwf A G 6: 125,632,214 (GRCm39) E82G unknown Het
Vwf T A 6: 125,640,534 (GRCm39) Y2323* probably null Het
Wdr76 T G 2: 121,359,402 (GRCm39) V329G probably damaging Het
Zan A G 5: 137,460,214 (GRCm39) C1226R unknown Het
Zbtb16 G T 9: 48,743,572 (GRCm39) Q247K probably damaging Het
Zfp541 T C 7: 15,812,640 (GRCm39) V431A possibly damaging Het
Other mutations in Siah1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- CCAGGAAAGTTTTAGGTTGGCAAGC -3'
(R):5'- AGTCCATTACCACCCTGCAAGGAG -3'

Sequencing Primer
(F):5'- GCCGTTTCAACACATGGAAATAG -3'
(R):5'- GGAGAAGATATAGTTTTCCTTGCTAC -3'
Posted On 2014-04-13