Incidental Mutation 'R4437:Siah1b'
ID 329599
Institutional Source Beutler Lab
Gene Symbol Siah1b
Ensembl Gene ENSMUSG00000040749
Gene Name siah E3 ubiquitin protein ligase 1B
Synonyms Sinh1b
MMRRC Submission 041150-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.829) question?
Stock # R4437 (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: 97.2%
  • 20x: 95.1%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A C 12: 113,454,281 (GRCm39) Q366P probably damaging Het
Arhgef16 A G 4: 154,364,153 (GRCm39) probably null Het
Bcar1 G A 8: 112,442,021 (GRCm39) T273M probably damaging Het
Bcl2a1d A T 9: 88,613,753 (GRCm39) M7K probably benign Het
Bptf A G 11: 106,965,300 (GRCm39) V1235A possibly damaging Het
Camsap1 G A 2: 25,828,658 (GRCm39) T1022I possibly damaging Het
Cdc37l1 T C 19: 28,985,021 (GRCm39) F224L probably damaging Het
Col4a1 G T 8: 11,256,387 (GRCm39) C1493* probably null Het
Cul9 A G 17: 46,813,085 (GRCm39) L2378P probably damaging Het
D630003M21Rik G A 2: 158,055,382 (GRCm39) P585L probably damaging Het
Fam169a A G 13: 97,263,248 (GRCm39) D567G probably damaging Het
Frem3 A G 8: 81,339,236 (GRCm39) I510V probably benign Het
Garin2 T A 12: 78,761,824 (GRCm39) F163I probably damaging Het
Gm2381 A T 7: 42,469,268 (GRCm39) H285Q probably damaging Het
Gm4884 A G 7: 40,692,514 (GRCm39) Q161R probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Igkv1-99 T G 6: 68,519,318 (GRCm39) S91A probably benign Het
Itga6 T C 2: 71,655,982 (GRCm39) L302P probably benign Het
Mdga2 T C 12: 66,519,972 (GRCm39) probably null Het
Myoc A G 1: 162,476,681 (GRCm39) M462V possibly damaging Het
Nkx2-4 T C 2: 146,926,179 (GRCm39) T228A possibly damaging Het
Npr1 T G 3: 90,363,593 (GRCm39) D810A probably damaging Het
Or4a68 T G 2: 89,269,698 (GRCm39) R308S possibly damaging Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Or51a24 T C 7: 103,734,128 (GRCm39) E53G possibly damaging Het
Pde4dip G A 3: 97,673,885 (GRCm39) L344F possibly damaging Het
Pfas A G 11: 68,879,243 (GRCm39) L1218P probably damaging Het
Rimoc1 T C 15: 4,021,318 (GRCm39) E79G probably damaging Het
Rln1 A T 19: 29,311,962 (GRCm39) F12Y possibly damaging Het
Robo2 T C 16: 73,770,132 (GRCm39) T531A possibly damaging Het
Tsc2 G A 17: 24,818,687 (GRCm39) P1450L probably benign Het
Vps33a A T 5: 123,669,947 (GRCm39) I519N probably benign Het
Other mutations in Siah1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4435:Siah1b UTSW X 162,854,688 (GRCm39) missense probably damaging 1.00
R4436: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'- TGCAAAGAACTGCTGATGACC -3'
(R):5'- AAACTTACATGTTGTCCCACCTG -3'

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