Incidental Mutation 'IGL02736:Mgarp'
ID305677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgarp
Ensembl Gene ENSMUSG00000037161
Gene Namemitochondria localized glutamic acid rich protein
Synonyms4930583H14Rik, Osap
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL02736
Quality Score
Status
Chromosome3
Chromosomal Location51388412-51396738 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 51396445 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 36 (A36S)
Ref Sequence ENSEMBL: ENSMUSP00000123126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038154] [ENSMUST00000108046] [ENSMUST00000141156]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038154
AA Change: A22S

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040703
Gene: ENSMUSG00000037161
AA Change: A22S

DomainStartEndE-ValueType
Pfam:AIF-MLS 1 185 1.9e-70 PFAM
internal_repeat_1 200 225 3.83e-5 PROSPERO
low complexity region 245 278 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108046
SMART Domains Protein: ENSMUSP00000103681
Gene: ENSMUSG00000037161

DomainStartEndE-ValueType
Pfam:AIF-MLS 10 177 7.6e-54 PFAM
low complexity region 237 270 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000141156
AA Change: A36S

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123126
Gene: ENSMUSG00000037161
AA Change: A36S

DomainStartEndE-ValueType
Pfam:AIF-MLS 16 210 3.8e-82 PFAM
internal_repeat_1 214 239 5.25e-5 PROSPERO
low complexity region 259 291 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157054
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T C 1: 37,637,873 E76G probably damaging Het
9430007A20Rik G A 4: 144,528,637 R209K probably benign Het
A830018L16Rik G A 1: 11,972,051 A416T probably benign Het
Akap12 A G 10: 4,355,637 I816V probably benign Het
Antxrl A G 14: 34,056,618 probably benign Het
Atp1a3 G A 7: 24,980,109 T920I probably damaging Het
Cd22 C T 7: 30,878,045 probably null Het
Cntn3 T A 6: 102,203,939 N765I probably damaging Het
Crebbp G A 16: 4,154,910 P307S probably benign Het
Dapk2 T A 9: 66,268,916 M333K probably benign Het
Decr1 T A 4: 15,930,952 T127S probably benign Het
Dnmbp A T 19: 43,849,770 probably benign Het
Erbin A G 13: 103,839,395 S664P probably damaging Het
Hectd4 G T 5: 121,342,719 C2941F possibly damaging Het
Ighv1-4 A G 12: 114,487,252 Y79H probably benign Het
Matn3 T A 12: 8,955,422 D277E possibly damaging Het
Mycbp2 A G 14: 103,114,242 probably benign Het
Nynrin G A 14: 55,870,909 A1158T probably damaging Het
Olfr427 T G 1: 174,099,647 I63S probably damaging Het
Olfr729 G A 14: 50,148,424 A150V probably benign Het
Palm2 C A 4: 57,709,721 A222E probably damaging Het
Pkd1l2 T C 8: 117,040,666 D1295G probably benign Het
Ppig A G 2: 69,736,094 I171M probably damaging Het
Ptprs A T 17: 56,458,248 V12E possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rpgrip1l T A 8: 91,263,591 Q741L possibly damaging Het
Slco6d1 T C 1: 98,428,311 V157A possibly damaging Het
Sox6 A C 7: 115,580,640 D302E probably damaging Het
Spata3 T C 1: 86,024,435 V136A probably damaging Het
St6galnac6 G A 2: 32,614,971 R129H probably benign Het
Tmem184c A T 8: 77,597,846 D338E probably damaging Het
Tmem67 A G 4: 12,045,789 probably null Het
Ttn A T 2: 76,878,270 probably benign Het
Usp16 T C 16: 87,464,835 V113A possibly damaging Het
Utrn A G 10: 12,421,640 Y675H probably damaging Het
Zc3h4 T A 7: 16,417,383 Y117* probably null Het
Zc3h7b A T 15: 81,791,974 M694L probably benign Het
Zfp345 A T 2: 150,474,554 Y45N probably damaging Het
Other mutations in Mgarp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01611:Mgarp APN 3 51389149 missense probably damaging 0.99
IGL02145:Mgarp APN 3 51389032 missense possibly damaging 0.79
IGL02824:Mgarp APN 3 51389087 missense probably damaging 0.98
R0117:Mgarp UTSW 3 51396712 unclassified probably benign
R0152:Mgarp UTSW 3 51388963 missense probably benign 0.01
R0492:Mgarp UTSW 3 51389035 missense possibly damaging 0.77
R4433:Mgarp UTSW 3 51396260 intron probably benign
R5048:Mgarp UTSW 3 51391286 missense probably damaging 0.99
R5290:Mgarp UTSW 3 51388966 missense possibly damaging 0.92
R5470:Mgarp UTSW 3 51391285 missense possibly damaging 0.77
R5780:Mgarp UTSW 3 51391848 missense probably damaging 1.00
R7836:Mgarp UTSW 3 51389066 missense probably benign 0.00
R7903:Mgarp UTSW 3 51396698 missense
Posted On2015-04-16