Incidental Mutation 'IGL00164:Surf1'
ID 1914
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Surf1
Ensembl Gene ENSMUSG00000015790
Gene Name surfeit gene 1
Synonyms Surf-1, 0610010F23Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.302) question?
Stock # IGL00164
Quality Score
Status
Chromosome 2
Chromosomal Location 26803393-26806542 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 26803584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015017] [ENSMUST00000015920] [ENSMUST00000015934] [ENSMUST00000102899] [ENSMUST00000129682] [ENSMUST00000133513] [ENSMUST00000102898] [ENSMUST00000147110] [ENSMUST00000167661] [ENSMUST00000139815]
AlphaFold P09925
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: ENSMUST00000129822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137376
Predicted Effect probably benign
Transcript: ENSMUST00000102899
SMART Domains Protein: ENSMUSP00000099963
Gene: ENSMUSG00000015776

DomainStartEndE-ValueType
Pfam:Med22 14 130 5.6e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129682
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 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 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 probably benign
Transcript: ENSMUST00000183520
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 noncoding transcript
Transcript: ENSMUST00000142967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143678
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
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: 77,471,477 (GRCm39) probably benign Het
Abcg4 A G 9: 44,186,439 (GRCm39) probably benign Het
Actr2 A G 11: 20,030,015 (GRCm39) probably benign Het
Adgrb3 A G 1: 25,267,581 (GRCm39) L843P probably benign Het
Cdk19 G A 10: 40,312,161 (GRCm39) D137N probably benign Het
Cuedc2 T A 19: 46,320,359 (GRCm39) I71F probably damaging Het
Dag1 A G 9: 108,086,487 (GRCm39) V218A probably damaging Het
Dlg5 A C 14: 24,208,532 (GRCm39) S868R possibly damaging Het
Ecsit C T 9: 21,984,310 (GRCm39) G340D probably benign Het
Fkbp8 A G 8: 70,987,211 (GRCm39) M358V probably damaging Het
Gckr G A 5: 31,456,920 (GRCm39) V79M probably damaging Het
Gpd1 C A 15: 99,618,532 (GRCm39) D172E probably benign Het
Josd2 T C 7: 44,120,740 (GRCm39) probably benign Het
Kcna2 T C 3: 107,011,946 (GRCm39) S176P probably damaging Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Notch1 G A 2: 26,350,058 (GRCm39) R2361W probably damaging Het
Or5w1 T C 2: 87,486,582 (GRCm39) M228V probably benign Het
Palb2 A C 7: 121,720,271 (GRCm39) probably benign Het
Pan2 C T 10: 128,148,795 (GRCm39) Q452* probably null Het
Pcnx1 T C 12: 81,941,875 (GRCm39) V91A probably damaging Het
Rgs22 T A 15: 36,100,077 (GRCm39) I213F possibly damaging Het
Serpina3b G T 12: 104,105,046 (GRCm39) W407C probably benign Het
Sf3b2 T C 19: 5,329,615 (GRCm39) D687G probably benign Het
Slc8a3 T C 12: 81,361,343 (GRCm39) E492G probably benign Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Tmem190 T C 7: 4,785,998 (GRCm39) probably benign Het
Zfhx2 A G 14: 55,302,483 (GRCm39) S1834P possibly damaging Het
Zfp607a G A 7: 27,577,214 (GRCm39) E95K possibly damaging Het
Other mutations in Surf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02159:Surf1 APN 2 26,805,663 (GRCm39) missense probably damaging 1.00
broadsword UTSW 2 26,805,963 (GRCm39) splice site probably benign
dannyboy UTSW 2 26,806,271 (GRCm39) splice site probably benign
R1938:Surf1 UTSW 2 26,805,982 (GRCm39) missense probably benign 0.27
R2414:Surf1 UTSW 2 26,806,295 (GRCm39) missense probably damaging 0.98
R2440:Surf1 UTSW 2 26,803,919 (GRCm39) splice site probably null
R4797:Surf1 UTSW 2 26,806,358 (GRCm39) unclassified probably benign
R4836:Surf1 UTSW 2 26,804,255 (GRCm39) missense possibly damaging 0.81
R5353:Surf1 UTSW 2 26,804,204 (GRCm39) missense probably benign 0.44
R5586:Surf1 UTSW 2 26,805,963 (GRCm39) splice site probably benign
R5870:Surf1 UTSW 2 26,806,271 (GRCm39) splice site probably benign
R6207:Surf1 UTSW 2 26,804,819 (GRCm39) missense probably benign 0.15
R7833:Surf1 UTSW 2 26,806,280 (GRCm39) missense probably benign 0.39
R8976:Surf1 UTSW 2 26,805,767 (GRCm39) missense probably benign 0.00
R9454:Surf1 UTSW 2 26,804,808 (GRCm39) missense possibly damaging 0.46
Posted On 2011-07-12