Incidental Mutation 'IGL01326:Serac1'
ID 74295
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serac1
Ensembl Gene ENSMUSG00000015659
Gene Name serine active site containing 1
Synonyms 4930511N22Rik, D17Ertd141e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01326
Quality Score
Status
Chromosome 17
Chromosomal Location 6092471-6130016 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 6124528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024570] [ENSMUST00000097432]
AlphaFold Q3U213
Predicted Effect probably benign
Transcript: ENSMUST00000024570
SMART Domains Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
low complexity region 161 169 N/A INTRINSIC
low complexity region 202 215 N/A INTRINSIC
SCOP:d1jdha_ 243 336 3e-5 SMART
Pfam:PGAP1 360 519 3.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097432
SMART Domains Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
SCOP:d1gw5a_ 89 464 3e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139542
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 137,992,672 (GRCm39) V263M probably damaging Het
Akap13 T A 7: 75,375,096 (GRCm39) H1909Q probably benign Het
Atg2b C T 12: 105,588,403 (GRCm39) A1936T probably damaging Het
Atp8b3 G T 10: 80,360,210 (GRCm39) L954M probably damaging Het
C8a T C 4: 104,713,617 (GRCm39) Y171C probably damaging Het
Cd6 A G 19: 10,768,466 (GRCm39) S508P probably benign Het
Cdk4 A G 10: 126,900,492 (GRCm39) D86G possibly damaging Het
Cdr2l G T 11: 115,281,796 (GRCm39) R100S probably benign Het
Cndp1 T A 18: 84,640,357 (GRCm39) T283S probably benign Het
Cr2 T C 1: 194,823,529 (GRCm39) Y1023C probably null Het
Csmd3 A G 15: 47,713,181 (GRCm39) F1494L probably benign Het
Eeig2 A G 3: 108,887,101 (GRCm39) V299A possibly damaging Het
Eng G T 2: 32,562,394 (GRCm39) G231W probably benign Het
Erp44 A G 4: 48,218,126 (GRCm39) V181A probably benign Het
Fkbp15 A G 4: 62,241,487 (GRCm39) S553P probably damaging Het
Glg1 A G 8: 111,909,205 (GRCm39) V495A probably damaging Het
Gm9631 A T 11: 121,836,454 (GRCm39) D28E possibly damaging Het
Gnptab G T 10: 88,268,927 (GRCm39) L543F probably damaging Het
H4c3 A T 13: 23,882,353 (GRCm39) I27N probably damaging Het
Khdrbs2 T G 1: 32,696,558 (GRCm39) L329R possibly damaging Het
Kidins220 C A 12: 25,088,498 (GRCm39) H1080Q probably damaging Het
Maml1 G A 11: 50,156,715 (GRCm39) P487S probably benign Het
Me1 C T 9: 86,480,771 (GRCm39) probably null Het
Morc2a C T 11: 3,631,775 (GRCm39) R569C probably benign Het
Mrc1 A G 2: 14,271,335 (GRCm39) Q413R probably damaging Het
Mrgprx1 A T 7: 47,671,517 (GRCm39) C77S probably benign Het
Mtarc2 T C 1: 184,566,048 (GRCm39) probably benign Het
Myo1d A T 11: 80,575,147 (GRCm39) probably benign Het
Nr4a1 T G 15: 101,171,940 (GRCm39) L538R probably damaging Het
Olfm1 T C 2: 28,119,564 (GRCm39) Y385H probably damaging Het
Or4a39 A T 2: 89,236,675 (GRCm39) F249L possibly damaging Het
Or5m9 A G 2: 85,877,627 (GRCm39) E267G probably damaging Het
Pkd1 T A 17: 24,795,148 (GRCm39) Y2278* probably null Het
Plcg2 T C 8: 118,300,738 (GRCm39) probably benign Het
Prkdc G T 16: 15,647,556 (GRCm39) C3660F probably benign Het
Ptpn11 T C 5: 121,281,199 (GRCm39) D493G probably damaging Het
Rad23b T A 4: 55,383,601 (GRCm39) F278I possibly damaging Het
Saxo2 T C 7: 82,297,613 (GRCm39) I9V probably benign Het
Scn7a T C 2: 66,582,604 (GRCm39) I98V probably benign Het
Simc1 T C 13: 54,672,473 (GRCm39) C274R probably benign Het
Sirt3 A G 7: 140,444,006 (GRCm39) probably benign Het
Tctn3 A G 19: 40,585,880 (GRCm39) L555P probably damaging Het
Ttc14 A G 3: 33,855,507 (GRCm39) I151V probably benign Het
Ush2a T A 1: 187,995,518 (GRCm39) Y96* probably null Het
Usp42 T C 5: 143,706,970 (GRCm39) T270A possibly damaging Het
Vmn1r31 A G 6: 58,449,784 (GRCm39) I27T probably benign Het
Vmn2r93 G A 17: 18,536,906 (GRCm39) A530T possibly damaging Het
Other mutations in Serac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02642:Serac1 APN 17 6,096,021 (GRCm39) missense possibly damaging 0.56
IGL02972:Serac1 APN 17 6,121,039 (GRCm39) nonsense probably null
FR4304:Serac1 UTSW 17 6,121,083 (GRCm39) missense probably damaging 1.00
FR4340:Serac1 UTSW 17 6,121,083 (GRCm39) missense probably damaging 1.00
FR4342:Serac1 UTSW 17 6,121,083 (GRCm39) missense probably damaging 1.00
FR4589:Serac1 UTSW 17 6,121,083 (GRCm39) missense probably damaging 1.00
PIT4480001:Serac1 UTSW 17 6,101,087 (GRCm39) missense probably damaging 1.00
R0076:Serac1 UTSW 17 6,115,212 (GRCm39) splice site probably benign
R0076:Serac1 UTSW 17 6,115,212 (GRCm39) splice site probably benign
R0127:Serac1 UTSW 17 6,099,115 (GRCm39) missense probably damaging 1.00
R0211:Serac1 UTSW 17 6,100,335 (GRCm39) missense possibly damaging 0.67
R0245:Serac1 UTSW 17 6,102,031 (GRCm39) missense probably damaging 1.00
R0538:Serac1 UTSW 17 6,099,101 (GRCm39) splice site probably benign
R0652:Serac1 UTSW 17 6,102,031 (GRCm39) missense probably damaging 1.00
R0988:Serac1 UTSW 17 6,111,855 (GRCm39) missense probably benign 0.02
R1965:Serac1 UTSW 17 6,099,274 (GRCm39) missense possibly damaging 0.72
R1984:Serac1 UTSW 17 6,095,964 (GRCm39) splice site probably null
R2145:Serac1 UTSW 17 6,101,060 (GRCm39) missense probably damaging 1.00
R3426:Serac1 UTSW 17 6,117,053 (GRCm39) missense probably benign 0.04
R3921:Serac1 UTSW 17 6,117,067 (GRCm39) missense probably damaging 1.00
R4760:Serac1 UTSW 17 6,102,065 (GRCm39) missense possibly damaging 0.69
R4958:Serac1 UTSW 17 6,119,657 (GRCm39) missense probably benign 0.15
R5552:Serac1 UTSW 17 6,106,967 (GRCm39) nonsense probably null
R5874:Serac1 UTSW 17 6,094,188 (GRCm39) unclassified probably benign
R5964:Serac1 UTSW 17 6,115,324 (GRCm39) missense probably benign
R6614:Serac1 UTSW 17 6,095,937 (GRCm39) missense probably damaging 1.00
R6794:Serac1 UTSW 17 6,101,985 (GRCm39) missense probably damaging 1.00
R6949:Serac1 UTSW 17 6,102,090 (GRCm39) missense probably damaging 1.00
R7157:Serac1 UTSW 17 6,124,476 (GRCm39) missense probably benign
R7161:Serac1 UTSW 17 6,115,351 (GRCm39) missense probably damaging 0.97
R7426:Serac1 UTSW 17 6,119,589 (GRCm39) missense probably damaging 1.00
R8270:Serac1 UTSW 17 6,101,033 (GRCm39) missense probably damaging 1.00
R8733:Serac1 UTSW 17 6,100,303 (GRCm39) missense probably damaging 1.00
R8785:Serac1 UTSW 17 6,094,477 (GRCm39) missense probably damaging 0.99
R9057:Serac1 UTSW 17 6,111,890 (GRCm39) missense probably damaging 0.98
R9657:Serac1 UTSW 17 6,119,658 (GRCm39) missense probably benign 0.04
Z1088:Serac1 UTSW 17 6,099,193 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07