Incidental Mutation 'R4435:Siah1b'
ID 329509
Institutional Source Beutler Lab
Gene Symbol Siah1b
Ensembl Gene ENSMUSG00000040749
Gene Name siah E3 ubiquitin protein ligase 1B
Synonyms Sinh1b
MMRRC Submission 041149-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.829) question?
Stock # R4435 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 162853701-162859489 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 162854688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 131 (P131S)
Ref Sequence ENSEMBL: ENSMUSP00000071592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037928] [ENSMUST00000071667] [ENSMUST00000134272]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000037928
AA Change: P131S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043215
Gene: ENSMUSG00000040749
AA Change: P131S

DomainStartEndE-ValueType
RING 41 75 5.56e-1 SMART
Pfam:Sina 82 278 1.2e-84 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071667
AA Change: P131S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071592
Gene: ENSMUSG00000040749
AA Change: P131S

DomainStartEndE-ValueType
RING 41 75 5.56e-1 SMART
Pfam:Sina 82 278 1.2e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134272
SMART Domains Protein: ENSMUSP00000114867
Gene: ENSMUSG00000040749

DomainStartEndE-ValueType
SCOP:d1jm7b_ 21 65 1e-7 SMART
Blast:DUF4205 21 66 3e-17 BLAST
Meta Mutation Damage Score 0.8481 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the seven in absentia homolog (Siah) family of E3 ubiquitin ligase enzymes that catalyze the transfer of ubiquitin to substrate proteins. The encoded protein targets Pard3A (partitioning defective 3A) protein for proteasome-mediated degradation during the exit of cerebellar granule neurons from their germinal zone niche. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Primary mouse embryonic fibroblasts hemizygous for a targeted allele show no apparent alterations in Trp53-mediated responses or mitotic progression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A C 12: 113,454,281 (GRCm39) Q366P probably damaging Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Ank3 C T 10: 69,822,900 (GRCm39) S523L probably damaging Het
Arap1 C A 7: 101,039,461 (GRCm39) R574S possibly damaging Het
Arhgap25 T C 6: 87,439,920 (GRCm39) I576V possibly damaging Het
Ascc3 T A 10: 50,597,981 (GRCm39) V1283D probably benign Het
Asnsd1 A T 1: 53,387,232 (GRCm39) probably null Het
Asrgl1 C T 19: 9,096,563 (GRCm39) V125I probably damaging Het
Bccip A G 7: 133,320,942 (GRCm39) R239G probably benign Het
Cdyl T C 13: 36,042,233 (GRCm39) probably null Het
Cyfip1 T C 7: 55,549,789 (GRCm39) I650T probably damaging Het
Dennd4c C A 4: 86,716,312 (GRCm39) Q506K probably benign Het
Fam135b T C 15: 71,320,588 (GRCm39) D1313G probably damaging Het
Fam169a A G 13: 97,263,248 (GRCm39) D567G probably damaging Het
Gm5134 T G 10: 75,831,658 (GRCm39) S366A probably damaging Het
Gm5849 T A 3: 90,685,182 (GRCm39) K1M probably null Het
Gpn3 A G 5: 122,520,115 (GRCm39) D223G probably benign Het
Hk1 A G 10: 62,111,623 (GRCm39) Y713H probably damaging Het
Ifih1 A G 2: 62,476,234 (GRCm39) L14P probably damaging Het
Kmt2c A T 5: 25,519,875 (GRCm39) N2078K possibly damaging Het
Maf T A 8: 116,433,592 (GRCm39) E4V unknown Het
Mbtd1 T A 11: 93,823,048 (GRCm39) D489E probably benign Het
Myrip C T 9: 120,164,680 (GRCm39) probably benign Het
Nedd4l A G 18: 65,345,896 (GRCm39) D816G possibly damaging Het
Nwd1 T C 8: 73,414,764 (GRCm39) V934A possibly damaging Het
Or2a12 T A 6: 42,905,023 (GRCm39) I286N probably damaging Het
Or5ae1 A G 7: 84,565,229 (GRCm39) M81V probably benign Het
Psd A T 19: 46,302,933 (GRCm39) I158N probably damaging Het
Ptprq A G 10: 107,520,916 (GRCm39) V752A possibly damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Senp2 T A 16: 21,832,991 (GRCm39) V93E possibly damaging Het
Slc38a4 T C 15: 96,906,899 (GRCm39) S280G probably benign Het
Sos2 T C 12: 69,661,473 (GRCm39) E666G possibly damaging Het
Strip2 T C 6: 29,925,049 (GRCm39) V129A probably benign Het
Tsc2 G A 17: 24,818,687 (GRCm39) P1450L probably benign Het
Ttn T C 2: 76,747,219 (GRCm39) E4610G probably benign Het
Uimc1 T C 13: 55,223,636 (GRCm39) E212G probably damaging Het
Zc3h18 T C 8: 123,140,691 (GRCm39) probably null Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S probably benign Het
Other mutations in Siah1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4436:Siah1b UTSW X 162,854,688 (GRCm39) missense probably damaging 1.00
R4437:Siah1b UTSW X 162,854,688 (GRCm39) missense probably damaging 1.00
R4438:Siah1b UTSW X 162,854,688 (GRCm39) missense probably damaging 1.00
R4473:Siah1b UTSW X 162,854,688 (GRCm39) missense probably damaging 1.00
R4474:Siah1b UTSW X 162,854,688 (GRCm39) missense probably damaging 1.00
R4475:Siah1b UTSW X 162,854,688 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGTTTCTCCAAGACTAACATG -3'
(R):5'- TTTGTAGCAACTGTCGCCCC -3'

Sequencing Primer
(F):5'- TGTTTCTCCAAGACTAACATGAAATG -3'
(R):5'- GTCGCCCCAAACTTACATGTTG -3'
Posted On 2015-07-21