Incidental Mutation 'IGL01791:Surf6'
ID 155227
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: 0.933) question?
Stock # IGL01791
Quality Score
Status
Chromosome 2
Chromosomal Location 26780430-26792899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26789759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 94 (S94P)
Ref Sequence ENSEMBL: ENSMUSP00000109677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047632] [ENSMUST00000114043]
AlphaFold P70279
Predicted Effect probably benign
Transcript: ENSMUST00000047632
AA Change: S94P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000048457
Gene: ENSMUSG00000036160
AA Change: S94P

DomainStartEndE-ValueType
low complexity region 45 54 N/A INTRINSIC
Pfam:SURF6 135 342 1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114043
AA Change: S94P

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109677
Gene: ENSMUSG00000036160
AA Change: S94P

DomainStartEndE-ValueType
low complexity region 45 54 N/A INTRINSIC
Pfam:SURF6 132 207 1.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137904
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap32 A G 9: 32,158,486 (GRCm39) I174V probably damaging Het
Asb15 T A 6: 24,567,211 (GRCm39) C511S probably damaging Het
Atr C T 9: 95,803,834 (GRCm39) A1896V probably benign Het
B3gnt4 C T 5: 123,649,162 (GRCm39) R176C probably damaging Het
Brf1 T C 12: 112,926,095 (GRCm39) D557G probably benign Het
Catsperg2 T A 7: 29,404,090 (GRCm39) probably null Het
Cdip1 A G 16: 4,586,729 (GRCm39) I122T probably damaging Het
Ctrl C T 8: 106,659,199 (GRCm39) E147K probably benign Het
Dennd2c T C 3: 103,073,741 (GRCm39) V829A probably benign Het
Dync1h1 T A 12: 110,625,364 (GRCm39) L3874Q probably damaging Het
Dynlt4 T A 4: 116,985,794 (GRCm39) S206T probably damaging Het
Gm10521 T C 1: 171,723,964 (GRCm39) S92P unknown Het
Gm57858 T C 3: 36,089,416 (GRCm39) probably benign Het
Gzf1 G A 2: 148,525,981 (GRCm39) A151T probably benign Het
Hddc2 A G 10: 31,202,022 (GRCm39) Y123C probably damaging Het
Hyal4 T C 6: 24,763,894 (GRCm39) probably benign Het
Ighv16-1 T C 12: 114,032,589 (GRCm39) N71S probably benign Het
Ing2 A T 8: 48,122,070 (GRCm39) S159R probably benign Het
Itga1 A T 13: 115,124,197 (GRCm39) N698K probably benign Het
Lemd2 A T 17: 27,409,702 (GRCm39) I483N probably damaging Het
Lyst T C 13: 13,809,887 (GRCm39) L519P probably damaging Het
Mapk10 T C 5: 103,144,514 (GRCm39) N101S probably damaging Het
Nfatc4 A T 14: 56,069,695 (GRCm39) E164V probably null Het
Nfkb2 T G 19: 46,298,278 (GRCm39) probably benign Het
Nox3 A G 17: 3,733,218 (GRCm39) V231A possibly damaging Het
Nup160 G A 2: 90,534,197 (GRCm39) G674D probably damaging Het
Or1l4b A T 2: 37,036,548 (GRCm39) D108V probably damaging Het
Or56b1 C T 7: 104,285,682 (GRCm39) T267I possibly damaging Het
Otoa T G 7: 120,755,072 (GRCm39) V998G probably benign Het
Pcnx3 A T 19: 5,723,295 (GRCm39) M1300K probably benign Het
Pde4b A G 4: 102,448,127 (GRCm39) probably benign Het
Rfc1 T A 5: 65,420,488 (GRCm39) K1104I probably benign Het
Serpina1f G T 12: 103,659,761 (GRCm39) Q174K probably damaging Het
Serping1 T C 2: 84,603,721 (GRCm39) N107D possibly damaging Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tigd4 T A 3: 84,502,052 (GRCm39) I323N probably damaging Het
Vmn2r28 T C 7: 5,491,161 (GRCm39) D362G probably benign Het
Wdfy3 A G 5: 102,085,278 (GRCm39) S739P probably damaging Het
Other mutations in Surf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Surf6 APN 2 26,783,081 (GRCm39) critical splice acceptor site probably null
IGL02876:Surf6 APN 2 26,782,638 (GRCm39) missense probably damaging 1.00
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 2014-02-04