Incidental Mutation 'IGL02145:Mgarp'
ID 281721
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgarp
Ensembl Gene ENSMUSG00000037161
Gene Name mitochondria localized glutamic acid rich protein
Synonyms 4930583H14Rik, Osap
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL02145
Quality Score
Status
Chromosome 3
Chromosomal Location 51295833-51303968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51296453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 205 (Q205R)
Ref Sequence ENSEMBL: ENSMUSP00000123126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038154] [ENSMUST00000108046] [ENSMUST00000141156]
AlphaFold Q8VI64
Predicted Effect possibly damaging
Transcript: ENSMUST00000038154
AA Change: Q191R

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000040703
Gene: ENSMUSG00000037161
AA Change: Q191R

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 possibly damaging
Transcript: ENSMUST00000108046
AA Change: Q183R

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103681
Gene: ENSMUSG00000037161
AA Change: Q183R

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: Q205R

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123126
Gene: ENSMUSG00000037161
AA Change: Q205R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195545
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agt A G 8: 125,291,187 (GRCm39) L40P probably damaging Het
Ahnak T C 19: 8,980,219 (GRCm39) I501T probably benign Het
Aldh2 A G 5: 121,706,056 (GRCm39) *196Q probably null Het
Ankrd65 A G 4: 155,875,848 (GRCm39) D23G possibly damaging Het
Anln A T 9: 22,250,292 (GRCm39) probably null Het
Armc3 C T 2: 19,301,671 (GRCm39) S663L possibly damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Cul5 A T 9: 53,546,375 (GRCm39) probably benign Het
Cyba T C 8: 123,151,796 (GRCm39) I134V probably damaging Het
Cybb T A X: 9,323,257 (GRCm39) Q93H probably damaging Het
Cyp4f37 G T 17: 32,849,009 (GRCm39) K292N probably benign Het
Dmxl2 T C 9: 54,281,981 (GRCm39) I2850V probably benign Het
Ep300 T C 15: 81,485,367 (GRCm39) I118T unknown Het
Ercc6l G T X: 101,189,148 (GRCm39) P454T probably benign Het
Grxcr1 A G 5: 68,267,821 (GRCm39) E190G probably damaging Het
Heatr3 C T 8: 88,871,227 (GRCm39) R194C probably benign Het
Hspa12b C T 2: 130,985,655 (GRCm39) probably benign Het
Inpp5d T C 1: 87,642,777 (GRCm39) V644A probably damaging Het
Kif26a G A 12: 112,143,409 (GRCm39) R1221H probably benign Het
Klra8 T C 6: 130,102,199 (GRCm39) N79D probably benign Het
Kntc1 T C 5: 123,900,661 (GRCm39) I253T possibly damaging Het
Lamp5 T C 2: 135,901,509 (GRCm39) V111A possibly damaging Het
Lmo7 T C 14: 102,139,659 (GRCm39) S859P probably benign Het
Morf4l1 A G 9: 89,975,848 (GRCm39) Y315H probably benign Het
Naip6 A T 13: 100,433,486 (GRCm39) V1117E possibly damaging Het
Nipal1 A G 5: 72,824,274 (GRCm39) D206G probably damaging Het
Notch3 A G 17: 32,373,715 (GRCm39) S498P probably benign Het
Npepps A G 11: 97,109,328 (GRCm39) probably null Het
Or14c46 C A 7: 85,918,466 (GRCm39) C177F probably damaging Het
Or2ak6 T C 11: 58,592,886 (GRCm39) Y120H probably damaging Het
Phlpp1 A G 1: 106,317,613 (GRCm39) H1278R probably damaging Het
Pprc1 C A 19: 46,053,329 (GRCm39) probably benign Het
Rab8b A T 9: 66,755,000 (GRCm39) probably benign Het
Ripor2 T A 13: 24,901,554 (GRCm39) I875N probably damaging Het
Samd9l T C 6: 3,374,105 (GRCm39) E1052G probably benign Het
Slit3 A T 11: 35,520,569 (GRCm39) I569F probably damaging Het
Spata2l C T 8: 123,960,770 (GRCm39) G173D possibly damaging Het
Stc2 T G 11: 31,317,875 (GRCm39) probably benign Het
Tm6sf1 C A 7: 81,513,000 (GRCm39) Y65* probably null Het
Tspan15 A G 10: 62,029,751 (GRCm39) probably benign Het
Vmn2r14 A T 5: 109,368,454 (GRCm39) Y179* probably null Het
Washc5 C A 15: 59,241,060 (GRCm39) V92L probably benign Het
Wiz A G 17: 32,575,893 (GRCm39) S838P probably benign Het
Zp2 T A 7: 119,739,074 (GRCm39) probably null Het
Other mutations in Mgarp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01611:Mgarp APN 3 51,296,570 (GRCm39) missense probably damaging 0.99
IGL02736:Mgarp APN 3 51,303,866 (GRCm39) missense possibly damaging 0.89
IGL02824:Mgarp APN 3 51,296,508 (GRCm39) missense probably damaging 0.98
R0117:Mgarp UTSW 3 51,304,133 (GRCm39) unclassified probably benign
R0152:Mgarp UTSW 3 51,296,384 (GRCm39) missense probably benign 0.01
R0492:Mgarp UTSW 3 51,296,456 (GRCm39) missense possibly damaging 0.77
R4433:Mgarp UTSW 3 51,303,681 (GRCm39) intron probably benign
R5048:Mgarp UTSW 3 51,298,707 (GRCm39) missense probably damaging 0.99
R5290:Mgarp UTSW 3 51,296,387 (GRCm39) missense possibly damaging 0.92
R5470:Mgarp UTSW 3 51,298,706 (GRCm39) missense possibly damaging 0.77
R5780:Mgarp UTSW 3 51,299,269 (GRCm39) missense probably damaging 1.00
R7836:Mgarp UTSW 3 51,296,487 (GRCm39) missense probably benign 0.00
R7903:Mgarp UTSW 3 51,304,119 (GRCm39) missense
R8463:Mgarp UTSW 3 51,296,348 (GRCm39) missense probably damaging 0.96
R9035:Mgarp UTSW 3 51,296,264 (GRCm39) missense unknown
R9454:Mgarp UTSW 3 51,303,902 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16