Incidental Mutation 'IGL00164:Surf1'
ID1914
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Surf1
Ensembl Gene ENSMUSG00000015790
Gene Namesurfeit gene 1
Synonyms0610010F23Rik, Surf-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.318) question?
Stock #IGL00164
Quality Score
Status
Chromosome2
Chromosomal Location26913381-26916530 bp(-) (GRCm38)
Type of Mutationunclassified (5 bp from exon)
DNA Base Change (assembly) C to T at 26913572 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015017] [ENSMUST00000015920] [ENSMUST00000015934] [ENSMUST00000102898] [ENSMUST00000102899] [ENSMUST00000129682] [ENSMUST00000133513] [ENSMUST00000139815] [ENSMUST00000147110] [ENSMUST00000167661]
Predicted Effect probably benign
Transcript: ENSMUST00000015017
SMART Domains Protein: ENSMUSP00000015017
Gene: ENSMUSG00000014873

DomainStartEndE-ValueType
Pfam:SURF2 4 251 5.7e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000015920
SMART Domains Protein: ENSMUSP00000015920
Gene: ENSMUSG00000015776

DomainStartEndE-ValueType
Pfam:Med22 20 125 5.7e-40 PFAM
low complexity region 127 141 N/A INTRINSIC
low complexity region 156 174 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000015934
SMART Domains Protein: ENSMUSP00000015934
Gene: ENSMUSG00000015790

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
low complexity region 83 98 N/A INTRINSIC
Pfam:SURF1 106 321 6.7e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083361
Predicted Effect probably benign
Transcript: ENSMUST00000102898
SMART Domains Protein: ENSMUSP00000099962
Gene: ENSMUSG00000062647

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
Pfam:Ribosomal_L7Ae 122 216 1.2e-25 PFAM
low complexity region 251 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102899
SMART Domains Protein: ENSMUSP00000099963
Gene: ENSMUSG00000015776

DomainStartEndE-ValueType
Pfam:Med22 14 130 5.6e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129673
Predicted Effect probably benign
Transcript: ENSMUST00000129682
Predicted Effect probably benign
Transcript: ENSMUST00000129822
Predicted Effect probably benign
Transcript: ENSMUST00000133513
SMART Domains Protein: ENSMUSP00000141317
Gene: ENSMUSG00000015790

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
Pfam:SURF1 30 63 7.2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137376
Predicted Effect probably benign
Transcript: ENSMUST00000139815
SMART Domains Protein: ENSMUSP00000116442
Gene: ENSMUSG00000015776

DomainStartEndE-ValueType
Pfam:Med22 14 72 3e-14 PFAM
Pfam:Med22 96 166 2.7e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143678
Predicted Effect probably null
Transcript: ENSMUST00000147110
SMART Domains Protein: ENSMUSP00000141238
Gene: ENSMUSG00000015790

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
Pfam:SURF1 30 240 5.1e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157066
Predicted Effect probably benign
Transcript: ENSMUST00000167661
SMART Domains Protein: ENSMUSP00000128488
Gene: ENSMUSG00000015790

DomainStartEndE-ValueType
low complexity region 51 66 N/A INTRINSIC
Pfam:SURF1 73 290 5.9e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183520
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 protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene affect calcium uptake by mitochondria in neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,323,358 probably benign Het
Abcg4 A G 9: 44,275,142 probably benign Het
Actr2 A G 11: 20,080,015 probably benign Het
Adgrb3 A G 1: 25,228,500 L843P probably benign Het
Cdk19 G A 10: 40,436,165 D137N probably benign Het
Cuedc2 T A 19: 46,331,920 I71F probably damaging Het
Dag1 A G 9: 108,209,288 V218A probably damaging Het
Dlg5 A C 14: 24,158,464 S868R possibly damaging Het
Ecsit C T 9: 22,073,014 G340D probably benign Het
Fkbp8 A G 8: 70,534,561 M358V probably damaging Het
Gckr G A 5: 31,299,576 V79M probably damaging Het
Gpd1 C A 15: 99,720,651 D172E probably benign Het
Josd2 T C 7: 44,471,316 probably benign Het
Kcna2 T C 3: 107,104,630 S176P probably damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Notch1 G A 2: 26,460,046 R2361W probably damaging Het
Olfr1134 T C 2: 87,656,238 M228V probably benign Het
Palb2 A C 7: 122,121,048 probably benign Het
Pan2 C T 10: 128,312,926 Q452* probably null Het
Pcnx T C 12: 81,895,101 V91A probably damaging Het
Rgs22 T A 15: 36,099,931 I213F possibly damaging Het
Serpina3b G T 12: 104,138,787 W407C probably benign Het
Sf3b2 T C 19: 5,279,587 D687G probably benign Het
Slc8a3 T C 12: 81,314,569 E492G probably benign Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Tmem190 T C 7: 4,782,999 probably benign Het
Zfhx2 A G 14: 55,065,026 S1834P possibly damaging Het
Zfp607a G A 7: 27,877,789 E95K possibly damaging Het
Other mutations in Surf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02159:Surf1 APN 2 26915651 missense probably damaging 1.00
R1938:Surf1 UTSW 2 26915970 missense probably benign 0.27
R2414:Surf1 UTSW 2 26916283 missense probably damaging 0.98
R2440:Surf1 UTSW 2 26913907 splice site probably null
R4797:Surf1 UTSW 2 26916346 unclassified probably benign
R4836:Surf1 UTSW 2 26914243 missense possibly damaging 0.81
R5353:Surf1 UTSW 2 26914192 missense probably benign 0.44
R5586:Surf1 UTSW 2 26915951 splice site probably benign
R5870:Surf1 UTSW 2 26916259 splice site probably benign
R6207:Surf1 UTSW 2 26914807 missense probably benign 0.15
Posted On2011-07-12