Incidental Mutation 'IGL02876:Surf6'
ID 406214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Surf6
Ensembl Gene ENSMUSG00000036160
Gene Name surfeit gene 6
Synonyms Surf-6, D2Wsu129e
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # IGL02876
Quality Score
Status
Chromosome 2
Chromosomal Location 26780430-26792899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26782638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 230 (Y230H)
Ref Sequence ENSEMBL: ENSMUSP00000048457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047632] [ENSMUST00000114043]
AlphaFold P70279
Predicted Effect probably damaging
Transcript: ENSMUST00000047632
AA Change: Y230H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048457
Gene: ENSMUSG00000036160
AA Change: Y230H

DomainStartEndE-ValueType
low complexity region 45 54 N/A INTRINSIC
Pfam:SURF6 135 342 1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114043
SMART Domains Protein: ENSMUSP00000109677
Gene: ENSMUSG00000036160

DomainStartEndE-ValueType
low complexity region 45 54 N/A INTRINSIC
Pfam:SURF6 132 207 1.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137904
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142131
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein that is localized to the nucleolus. The encoded protein may function as a nucleolar-matrix protein with nucleic acid-binding properties. There is a pseudogene for this gene on chromosome Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 A G 4: 144,282,343 (GRCm39) Y150H probably damaging Het
Abcb5 A G 12: 118,883,576 (GRCm39) V564A probably damaging Het
Adamts15 A T 9: 30,815,818 (GRCm39) N679K probably damaging Het
Angpt1 T G 15: 42,290,373 (GRCm39) D497A possibly damaging Het
Asap2 A G 12: 21,308,164 (GRCm39) K849R probably benign Het
Aspm T C 1: 139,401,391 (GRCm39) V1137A probably damaging Het
Atp12a A G 14: 56,610,746 (GRCm39) I297V probably benign Het
Atp2a2 A G 5: 122,604,071 (GRCm39) V454A probably benign Het
Carmil1 T A 13: 24,338,651 (GRCm39) probably benign Het
Csmd2 A T 4: 128,215,128 (GRCm39) K517* probably null Het
Csmd3 A T 15: 47,469,492 (GRCm39) probably benign Het
Cyp2d11 T A 15: 82,273,697 (GRCm39) Q427L possibly damaging Het
Eml5 C T 12: 98,825,100 (GRCm39) V706M probably damaging Het
Entpd8 A C 2: 24,975,072 (GRCm39) S428R probably benign Het
Gm10283 T C 8: 60,954,253 (GRCm39) probably benign Het
Gpatch3 T A 4: 133,307,995 (GRCm39) V363E probably damaging Het
Hoxb5 T A 11: 96,194,594 (GRCm39) M52K probably damaging Het
Ift52 T C 2: 162,878,627 (GRCm39) V307A probably benign Het
Igkv1-115 T C 6: 68,138,424 (GRCm39) noncoding transcript Het
Kdm5a T C 6: 120,367,605 (GRCm39) probably benign Het
Lama1 T A 17: 68,057,687 (GRCm39) probably null Het
Lrp6 G A 6: 134,433,077 (GRCm39) P1418L probably benign Het
Mill2 T C 7: 18,590,432 (GRCm39) F156L probably damaging Het
Mnat1 A G 12: 73,217,378 (GRCm39) R85G probably damaging Het
Myrip A T 9: 120,261,740 (GRCm39) D451V probably damaging Het
Or1e1f A T 11: 73,855,539 (GRCm39) Y35F possibly damaging Het
Pdzph1 C A 17: 59,281,064 (GRCm39) S406I probably benign Het
Ptprb A G 10: 116,184,116 (GRCm39) probably benign Het
Rxfp4 T A 3: 88,559,742 (GRCm39) R236S possibly damaging Het
Ryr2 T C 13: 11,722,679 (GRCm39) M2604V probably benign Het
Setd1a G A 7: 127,377,673 (GRCm39) probably benign Het
Spata33 A T 8: 123,948,719 (GRCm39) H88L probably damaging Het
Spcs3 A T 8: 54,979,486 (GRCm39) N98K probably damaging Het
Srgap3 A G 6: 112,748,414 (GRCm39) S413P probably damaging Het
Stap2 T C 17: 56,306,961 (GRCm39) R239G probably benign Het
Tasp1 C T 2: 139,676,283 (GRCm39) V382M probably benign Het
Tnc G T 4: 63,933,338 (GRCm39) A642E possibly damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn2r110 T A 17: 20,794,558 (GRCm39) T704S probably damaging Het
Vtcn1 A T 3: 100,791,145 (GRCm39) D61V probably damaging Het
Zc3h12d G A 10: 7,738,364 (GRCm39) M223I probably damaging Het
Zfp592 T A 7: 80,687,875 (GRCm39) S934T probably benign Het
Other mutations in Surf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Surf6 APN 2 26,783,081 (GRCm39) critical splice acceptor site probably null
IGL01791:Surf6 APN 2 26,789,759 (GRCm39) missense probably benign 0.07
Dividend UTSW 2 26,789,368 (GRCm39) missense probably damaging 1.00
Rational UTSW 2 26,782,274 (GRCm39) missense probably damaging 1.00
R2415:Surf6 UTSW 2 26,782,274 (GRCm39) missense probably damaging 1.00
R4458:Surf6 UTSW 2 26,782,721 (GRCm39) missense probably benign 0.29
R6594:Surf6 UTSW 2 26,792,761 (GRCm39) missense possibly damaging 0.69
R7044:Surf6 UTSW 2 26,789,368 (GRCm39) missense probably damaging 1.00
R8114:Surf6 UTSW 2 26,782,380 (GRCm39) nonsense probably null
R9008:Surf6 UTSW 2 26,782,536 (GRCm39) missense probably damaging 1.00
R9343:Surf6 UTSW 2 26,783,006 (GRCm39) missense probably damaging 0.97
R9367:Surf6 UTSW 2 26,782,380 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02