Incidental Mutation 'R4438:Siah1b'
ID 329649
Institutional Source Beutler Lab
Gene Symbol Siah1b
Ensembl Gene ENSMUSG00000040749
Gene Name siah E3 ubiquitin protein ligase 1B
Synonyms Sinh1b
MMRRC Submission 041703-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.819) question?
Stock # R4438 (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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (52/52)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 T A 2: 58,367,739 (GRCm39) I141F probably benign Het
Adam6b A C 12: 113,454,281 (GRCm39) Q366P probably damaging Het
Adck1 C T 12: 88,397,920 (GRCm39) Q185* probably null Het
Adgrb3 T C 1: 25,870,108 (GRCm39) probably benign Het
Als2cl T C 9: 110,714,466 (GRCm39) S105P probably damaging Het
Asns C A 6: 7,675,320 (GRCm39) A561S probably benign Het
Bcl2a1d A T 9: 88,613,753 (GRCm39) M7K probably benign Het
Bst1 A T 5: 43,982,682 (GRCm39) probably null Het
Cdc37l1 T C 19: 28,985,021 (GRCm39) F224L probably damaging Het
Csmd3 G A 15: 47,763,191 (GRCm39) T1215I possibly damaging Het
Csnk1e A T 15: 79,305,129 (GRCm39) S323T probably benign Het
Cyp2j7 G T 4: 96,105,646 (GRCm39) T288K probably benign Het
Dnaaf5 T A 5: 139,149,147 (GRCm39) I482N probably damaging Het
Dpy19l3 A G 7: 35,392,284 (GRCm39) I636T probably damaging Het
Enpep T G 3: 129,077,740 (GRCm39) T626P possibly damaging Het
Fgfr2 G A 7: 129,774,660 (GRCm39) R509* probably null Het
Gm5849 T A 3: 90,685,182 (GRCm39) K1M probably null Het
Gpr83 T C 9: 14,776,134 (GRCm39) Y152H probably damaging Het
Hdac7 T C 15: 97,705,596 (GRCm39) E400G probably damaging Het
Hypk A T 2: 121,288,475 (GRCm39) E82V probably damaging Het
Iqub C A 6: 24,505,867 (GRCm39) A14S probably benign Het
Lias T C 5: 65,552,787 (GRCm39) M130T probably damaging Het
Lingo4 T C 3: 94,310,204 (GRCm39) S381P possibly damaging Het
Mdn1 A G 4: 32,704,635 (GRCm39) T1536A probably damaging Het
Moxd2 T A 6: 40,860,996 (GRCm39) D265V probably damaging Het
Mtbp C A 15: 55,466,611 (GRCm39) S541R probably benign Het
Or10j27 C A 1: 172,957,869 (GRCm39) C305F probably benign Het
Or2a54 T C 6: 43,093,221 (GRCm39) S182P probably benign Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Pcsk9 G T 4: 106,316,156 (GRCm39) Q96K probably benign Het
Pramel14 T C 4: 143,718,192 (GRCm39) Y417C probably damaging Het
Rln1 A T 19: 29,311,962 (GRCm39) F12Y possibly damaging Het
Setd1a A G 7: 127,384,903 (GRCm39) N585D possibly damaging Het
Smarcal1 T C 1: 72,650,637 (GRCm39) probably benign Het
Snx19 G T 9: 30,339,895 (GRCm39) L344F probably benign Het
Srfbp1 T C 18: 52,621,403 (GRCm39) C155R probably benign Het
Sspo C T 6: 48,464,287 (GRCm39) R3914C probably damaging Het
Tacc2 G A 7: 130,225,271 (GRCm39) S652N probably damaging Het
Tmub1 A C 5: 24,651,068 (GRCm39) L197R probably damaging Het
Tnc T C 4: 63,926,066 (GRCm39) T905A possibly damaging Het
Tnfrsf21 G T 17: 43,398,733 (GRCm39) R613L possibly damaging Het
Ugt3a1 A T 15: 9,351,283 (GRCm39) E97D probably benign Het
Vmn2r25 A G 6: 123,816,756 (GRCm39) I275T probably benign Het
Zfp1010 T G 2: 176,956,889 (GRCm39) Q203P possibly damaging Het
Zfp568 G T 7: 29,721,721 (GRCm39) C221F probably benign Het
Zfp91 C A 19: 12,755,385 (GRCm39) E217* probably null Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S 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
R4437: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