Incidental Mutation 'R7044:Surf6'
ID 547195
Institutional Source Beutler Lab
Gene Symbol Surf6
Ensembl Gene ENSMUSG00000036160
Gene Name surfeit gene 6
Synonyms Surf-6, D2Wsu129e
MMRRC Submission 045143-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R7044 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 26780430-26792899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26789368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 123 (I123T)
Ref Sequence ENSEMBL: ENSMUSP00000109677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047632] [ENSMUST00000114043]
AlphaFold P70279
Predicted Effect probably damaging
Transcript: ENSMUST00000047632
AA Change: I123T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048457
Gene: ENSMUSG00000036160
AA Change: I123T

DomainStartEndE-ValueType
low complexity region 45 54 N/A INTRINSIC
Pfam:SURF6 135 342 1e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114043
AA Change: I123T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109677
Gene: ENSMUSG00000036160
AA Change: I123T

DomainStartEndE-ValueType
low complexity region 45 54 N/A INTRINSIC
Pfam:SURF6 132 207 1.6e-9 PFAM
Meta Mutation Damage Score 0.4649 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (40/41)
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
Ankrd6 T A 4: 32,815,260 (GRCm39) Q448L possibly damaging Het
Appl1 A G 14: 26,650,634 (GRCm39) S513P possibly damaging Het
Cdhr2 A T 13: 54,881,134 (GRCm39) K1066* probably null Het
Ckap5 T C 2: 91,407,946 (GRCm39) I824T probably benign Het
Cracdl C T 1: 37,651,361 (GRCm39) D1169N possibly damaging Het
Ctbp2 T C 7: 132,616,831 (GRCm39) R35G possibly damaging Het
Dcdc2c T C 12: 28,520,493 (GRCm39) probably benign Het
Eya1 T A 1: 14,301,634 (GRCm39) probably null Het
Fat4 G C 3: 39,064,959 (GRCm39) A4972P probably benign Het
Fat4 C T 3: 39,064,960 (GRCm39) A4972V probably benign Het
Fbxl8 T A 8: 105,993,647 (GRCm39) M1K probably null Het
Glyat T C 19: 12,627,629 (GRCm39) S75P probably benign Het
Gm3543 T A 14: 41,802,023 (GRCm39) I154F probably damaging Het
Gm4565 T A 7: 22,282,795 (GRCm39) M8L probably benign Het
Gpr179 T C 11: 97,240,616 (GRCm39) Q269R probably benign Het
Hjv C A 3: 96,434,790 (GRCm39) H176Q possibly damaging Het
Ikzf2 T C 1: 69,578,060 (GRCm39) H483R possibly damaging Het
Il25 G A 14: 55,170,615 (GRCm39) A63T probably benign Het
Krt27 T A 11: 99,237,640 (GRCm39) N366I probably benign Het
Mfge8 A G 7: 78,792,268 (GRCm39) V219A probably benign Het
Nrbp1 T C 5: 31,407,290 (GRCm39) V373A probably damaging Het
Or4c100 A G 2: 88,356,830 (GRCm39) N301S probably benign Het
Otulinl A G 15: 27,657,321 (GRCm39) probably benign Het
Pcdh20 A G 14: 88,706,607 (GRCm39) I231T probably damaging Het
Pfkp A G 13: 6,631,603 (GRCm39) W151R probably damaging Het
Pikfyve T C 1: 65,286,013 (GRCm39) I1084T probably benign Het
Poteg T C 8: 27,939,923 (GRCm39) C27R probably damaging Het
Ptprz1 G A 6: 23,044,345 (GRCm39) V1266M probably damaging Het
Rpa1 T C 11: 75,203,628 (GRCm39) D358G probably damaging Het
Slx9 T C 10: 77,350,226 (GRCm39) D35G possibly damaging Het
Snapc4 A G 2: 26,259,965 (GRCm39) S495P probably damaging Het
Sybu A T 15: 44,541,091 (GRCm39) S324T possibly damaging Het
Trim3 A T 7: 105,267,421 (GRCm39) S319R probably damaging Het
Trmt11 A G 10: 30,466,930 (GRCm39) F72L probably benign Het
Tsks C T 7: 44,593,216 (GRCm39) R61W probably damaging Het
Ube2k T C 5: 65,738,772 (GRCm39) V36A possibly damaging Het
Ube3a T C 7: 58,938,161 (GRCm39) V688A probably damaging Het
Vegfc A G 8: 54,610,080 (GRCm39) K79E possibly damaging Het
Vmn1r77 G A 7: 11,775,761 (GRCm39) R179Q probably benign Het
Vmn2r97 T A 17: 19,134,629 (GRCm39) F16I probably benign Het
Zfp451 A T 1: 33,841,248 (GRCm39) probably benign Het
Zfp600 C T 4: 146,131,892 (GRCm39) Q187* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGGACACAGCTTCCAAGAG -3'
(R):5'- AGCTGCAAGGGATGTGTTTTAAAG -3'

Sequencing Primer
(F):5'- CTTCCAAGAGGCAGGTGGTACTG -3'
(R):5'- TTAAAGGAGCTTGGGTAGAACTTC -3'
Posted On 2019-05-13