Incidental Mutation 'R4474:Siah1b'
ID 330506
Institutional Source Beutler Lab
Gene Symbol Siah1b
Ensembl Gene ENSMUSG00000040749
Gene Name siah E3 ubiquitin protein ligase 1B
Synonyms Sinh1b
MMRRC Submission 041731-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.829) question?
Stock # R4474 (G1)
Quality Score 222
Status 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: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 95% (36/38)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,124,598 (GRCm39) I397K possibly damaging Het
Alpk1 T C 3: 127,473,667 (GRCm39) T779A probably damaging Het
Cdh23 G T 10: 60,146,865 (GRCm39) A2795D probably damaging Het
Cdk19 G A 10: 40,345,952 (GRCm39) probably null Het
Cep104 T A 4: 154,073,693 (GRCm39) M476K possibly damaging Het
Csf1 T C 3: 107,661,172 (GRCm39) D115G probably damaging Het
Dclre1b C A 3: 103,714,559 (GRCm39) probably benign Het
Fbp1 A G 13: 63,023,075 (GRCm39) L74P probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hydin G T 8: 111,290,497 (GRCm39) V3319L probably benign Het
Kcna4 A G 2: 107,126,352 (GRCm39) N362S probably benign Het
Kif13a C T 13: 46,967,631 (GRCm39) probably null Het
Lingo2 T C 4: 35,708,810 (GRCm39) E390G probably benign Het
Mdh1 T G 11: 21,516,624 (GRCm39) D33A possibly damaging Het
Mov10 C T 3: 104,725,781 (GRCm39) G21D probably damaging Het
Muc21 G T 17: 35,931,496 (GRCm39) probably benign Het
Or4f56 G A 2: 111,703,784 (GRCm39) R139W possibly damaging Het
Or7g32 T A 9: 19,408,173 (GRCm39) L43Q probably damaging Het
Parn A G 16: 13,482,549 (GRCm39) S100P probably benign Het
Pik3c2g T A 6: 139,610,749 (GRCm39) Y332N probably damaging Het
Rab22a C T 2: 173,537,056 (GRCm39) T85M probably damaging Het
Rims2 A G 15: 39,325,956 (GRCm39) S763G probably damaging Het
Sarm1 T A 11: 78,387,927 (GRCm39) I120L probably benign Het
Snx31 A G 15: 36,546,256 (GRCm39) probably benign Het
Tmem150a C T 6: 72,334,035 (GRCm39) S39F probably benign Het
Tsc2 T A 17: 24,816,238 (GRCm39) H1605L probably damaging Het
Ugt1a10 TAAAAAAAAA TAAAAAAA 1: 88,143,650 (GRCm39) probably benign Het
Vmn2r95 T C 17: 18,672,507 (GRCm39) L820P probably damaging Het
Zfp36l3 T C X: 52,777,924 (GRCm39) N97D possibly damaging 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
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
R4475:Siah1b UTSW X 162,854,688 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGTTTCTCCAAGACTAACATG -3'
(R):5'- GTTTGTAGCAACTGTCGCCC -3'

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