Incidental Mutation 'IGL02159:Surf1'
ID 282379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Surf1
Ensembl Gene ENSMUSG00000015790
Gene Name surfeit gene 1
Synonyms 0610010F23Rik, Surf-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.269) question?
Stock # IGL02159
Quality Score
Status
Chromosome 2
Chromosomal Location 26913381-26916530 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26915651 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 26 (L26P)
Ref Sequence ENSEMBL: ENSMUSP00000141317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015011] [ENSMUST00000015017] [ENSMUST00000015934] [ENSMUST00000102898] [ENSMUST00000102899] [ENSMUST00000129682] [ENSMUST00000133513] [ENSMUST00000147110] [ENSMUST00000167661]
AlphaFold P09925
Predicted Effect probably benign
Transcript: ENSMUST00000015011
SMART Domains Protein: ENSMUSP00000015011
Gene: ENSMUSG00000014867

DomainStartEndE-ValueType
Pfam:SURF4 4 269 5.7e-132 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000015017
SMART Domains Protein: ENSMUSP00000015017
Gene: ENSMUSG00000014873

DomainStartEndE-ValueType
Pfam:SURF2 4 251 5.7e-98 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000015934
AA Change: L69P

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000015934
Gene: ENSMUSG00000015790
AA Change: L69P

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 probably damaging
Transcript: ENSMUST00000129682
AA Change: L26P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000133513
AA Change: L26P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141317
Gene: ENSMUSG00000015790
AA Change: L26P

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
Pfam:SURF1 30 63 7.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147110
AA Change: L26P

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141238
Gene: ENSMUSG00000015790
AA Change: L26P

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
Pfam:SURF1 30 240 5.1e-56 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000183520
AA Change: L58P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135506
Predicted Effect probably benign
Transcript: ENSMUST00000129822
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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,610,665 L257S probably damaging Het
2210010C04Rik T C 6: 41,032,957 T148A probably benign Het
Abca13 A G 11: 9,314,545 S2976G probably benign Het
Afmid T C 11: 117,836,426 W267R probably damaging Het
Ahi1 A G 10: 21,058,177 K969R probably benign Het
Aldh1l1 A G 6: 90,594,656 probably benign Het
Ank3 A G 10: 69,808,892 H62R probably damaging Het
Arid2 T C 15: 96,358,912 probably benign Het
BC030867 G A 11: 102,260,165 probably null Het
Caps2 G A 10: 112,204,023 V457M probably benign Het
Capza1 T C 3: 104,864,371 D3G possibly damaging Het
Cav1 T A 6: 17,307,972 V41E possibly damaging Het
Celf2 G T 2: 6,604,177 C264* probably null Het
Clec4a2 C T 6: 123,139,326 S150L probably benign Het
D7Ertd443e A T 7: 134,349,400 D181E possibly damaging Het
Epyc A G 10: 97,670,631 E100G probably benign Het
Hdac11 A G 6: 91,173,102 I294M probably damaging Het
Hsdl1 A G 8: 119,566,414 V73A probably benign Het
Kmt2c A T 5: 25,311,343 S2501T probably benign Het
Lrrc41 T A 4: 116,088,486 F133I probably benign Het
Map3k19 C A 1: 127,823,170 G815C probably benign Het
Muc13 C A 16: 33,799,479 T199K unknown Het
Nif3l1 G T 1: 58,447,946 probably null Het
Nlrp12 A T 7: 3,249,545 probably benign Het
Nup205 T C 6: 35,189,178 S244P probably damaging Het
Olfr1353 A T 10: 78,969,901 N84I probably damaging Het
Parl G A 16: 20,280,088 probably benign Het
Pax8 A G 2: 24,440,788 I211T possibly damaging Het
Pglyrp4 A G 3: 90,730,853 E158G possibly damaging Het
Plekhm1 A G 11: 103,380,231 L478P probably benign Het
Serpina1a C T 12: 103,854,706 G338R probably damaging Het
Serpina5 T C 12: 104,105,298 L388P possibly damaging Het
Sorbs1 A G 19: 40,327,596 V367A probably damaging Het
Srgap2 A G 1: 131,319,666 probably benign Het
Taf4 A G 2: 179,938,470 S486P probably benign Het
Tdrd6 A T 17: 43,628,390 V589E probably damaging Het
Tuba3b T G 6: 145,619,666 S287A probably benign Het
Txnrd3 G A 6: 89,669,324 R295H probably damaging Het
Ubr5 G T 15: 37,991,379 probably benign Het
Unc45b C T 11: 82,940,181 probably benign Het
Usp32 A G 11: 85,005,802 probably null Het
Utp23 G A 15: 51,882,365 R87K probably benign Het
Vps8 T C 16: 21,466,484 I405T possibly damaging Het
Other mutations in Surf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Surf1 APN 2 26913572 splice site probably null
broadsword UTSW 2 26915951 splice site probably benign
dannyboy UTSW 2 26916259 splice site probably benign
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
R7833:Surf1 UTSW 2 26916268 missense probably benign 0.39
R8976:Surf1 UTSW 2 26915755 missense probably benign 0.00
R9454:Surf1 UTSW 2 26914796 missense possibly damaging 0.46
Posted On 2015-04-16