Incidental Mutation 'R6738:Siah2'
ID530297
Institutional Source Beutler Lab
Gene Symbol Siah2
Ensembl Gene ENSMUSG00000036432
Gene Namesiah E3 ubiquitin protein ligase 2
SynonymsSinh2
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6738 (G1)
Quality Score221.009
Status Validated
Chromosome3
Chromosomal Location58674938-58692400 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58691553 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 88 (V88A)
Ref Sequence ENSEMBL: ENSMUSP00000067496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070368]
Predicted Effect probably benign
Transcript: ENSMUST00000070368
AA Change: V88A

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000067496
Gene: ENSMUSG00000036432
AA Change: V88A

DomainStartEndE-ValueType
low complexity region 18 70 N/A INTRINSIC
RING 81 115 6.18e-1 SMART
Pfam:Sina 123 319 6.5e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203879
Meta Mutation Damage Score 0.1084 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (55/55)
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 regulating cellular response to hypoxia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310007B03Rik G A 1: 93,159,985 L49F probably benign Het
Abat C T 16: 8,602,436 probably benign Het
Abl1 T C 2: 31,794,574 Y454H probably damaging Het
Ambp A T 4: 63,149,474 D166E probably benign Het
Amigo2 A G 15: 97,245,464 V359A possibly damaging Het
Ankrd11 A T 8: 122,891,921 S1710T probably damaging Het
Ankrd31 T C 13: 96,904,127 S1713P possibly damaging Het
Arhgap45 A T 10: 80,027,597 K758M probably damaging Het
Bclaf1 T C 10: 20,323,769 I304T possibly damaging Het
C1ra A G 6: 124,517,759 Y327C probably damaging Het
Ccdc73 C T 2: 104,992,088 S794L probably benign Het
Cd24a A G 10: 43,582,676 N48D possibly damaging Het
Col11a1 A G 3: 114,112,467 probably benign Het
Cyp11b2 G A 15: 74,853,514 T252I possibly damaging Het
Dlx2 A G 2: 71,546,062 Y111H probably benign Het
Dsp T C 13: 38,192,210 S1324P possibly damaging Het
Esyt3 A T 9: 99,320,293 F522I probably damaging Het
Fam193b C T 13: 55,550,361 A45T probably benign Het
Flnb A G 14: 7,904,536 T980A probably benign Het
Gabrb2 G T 11: 42,593,931 A272S possibly damaging Het
H2al2a G T 2: 17,996,618 Q86K possibly damaging Het
Ikbkb T G 8: 22,675,036 I243L probably damaging Het
Il18r1 A G 1: 40,498,656 E527G probably benign Het
Krt35 A T 11: 100,093,709 V320D probably damaging Het
Krt76 C T 15: 101,887,478 R419H probably benign Het
Lrp2 T A 2: 69,458,488 Y3678F probably damaging Het
Mnat1 T G 12: 73,272,472 S290A probably benign Het
Mptx2 T C 1: 173,274,855 E89G probably benign Het
Myom1 T A 17: 71,100,398 probably null Het
Naaladl2 A G 3: 24,171,642 V541A probably benign Het
Nbeal2 T C 9: 110,636,905 T851A possibly damaging Het
Ncoa4 A G 14: 32,170,793 Y11C probably benign Het
Ntn5 T A 7: 45,694,356 probably null Het
Olfr347 C T 2: 36,734,432 T37I probably benign Het
Olfr961 A G 9: 39,646,661 probably benign Het
Otop2 A G 11: 115,329,492 Y386C probably damaging Het
Ppp2r1a T A 17: 20,954,717 probably null Het
Prkd2 C A 7: 16,865,905 N764K possibly damaging Het
Ralgapa1 A G 12: 55,762,727 L421S probably damaging Het
Ric3 G A 7: 109,048,062 R184* probably null Het
Sfswap A G 5: 129,541,441 K480E probably damaging Het
Slc22a16 T C 10: 40,585,302 F367L probably damaging Het
Slc23a2 T C 2: 132,078,436 D183G probably benign Het
Svep1 T C 4: 58,123,180 N712S possibly damaging Het
Tex21 A G 12: 76,239,509 V72A probably benign Het
Tfap4 A G 16: 4,549,447 Y184H probably damaging Het
Timeless T C 10: 128,240,635 Y138H probably damaging Het
Tln2 A T 9: 67,386,664 N227K possibly damaging Het
Trip10 C T 17: 57,256,899 P342S probably benign Het
Ttc6 A T 12: 57,688,640 E1156V probably damaging Het
Ttn T C 2: 76,898,128 probably benign Het
Vmn2r109 G A 17: 20,554,523 S190L possibly damaging Het
Wdr54 A G 6: 83,155,127 S99P probably damaging Het
Ythdf2 A C 4: 132,204,961 I296R probably benign Het
Zfp445 A G 9: 122,862,058 V24A probably damaging Het
Other mutations in Siah2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02410:Siah2 APN 3 58676047 missense probably damaging 1.00
R0021:Siah2 UTSW 3 58676292 missense probably benign 0.00
R0021:Siah2 UTSW 3 58676292 missense probably benign 0.00
R0123:Siah2 UTSW 3 58676115 missense probably damaging 0.98
R0134:Siah2 UTSW 3 58676115 missense probably damaging 0.98
R0564:Siah2 UTSW 3 58676235 missense probably benign 0.32
R0648:Siah2 UTSW 3 58676214 missense probably damaging 0.99
R1164:Siah2 UTSW 3 58676316 missense probably benign 0.43
R1387:Siah2 UTSW 3 58691514 missense possibly damaging 0.95
R1955:Siah2 UTSW 3 58676097 missense probably damaging 0.99
R3732:Siah2 UTSW 3 58676250 missense probably damaging 1.00
R3732:Siah2 UTSW 3 58676250 missense probably damaging 1.00
R3733:Siah2 UTSW 3 58676250 missense probably damaging 1.00
R5704:Siah2 UTSW 3 58676400 missense probably damaging 1.00
R6821:Siah2 UTSW 3 58691770 missense probably benign 0.23
Z1177:Siah2 UTSW 3 58691620 missense unknown
Predicted Primers PCR Primer
(F):5'- GGCTGGACTTACCTTACAGG -3'
(R):5'- ACACGTGTCTTAGCGTCAC -3'

Sequencing Primer
(F):5'- TTACCTTACAGGGAAACAGAACTG -3'
(R):5'- AGGTCCATGGTGGGCTC -3'
Posted On2018-08-01