Incidental Mutation 'R5780:Mgarp'
ID 446921
Institutional Source Beutler Lab
Gene Symbol Mgarp
Ensembl Gene ENSMUSG00000037161
Gene Name mitochondria localized glutamic acid rich protein
Synonyms 4930583H14Rik, Osap
MMRRC Submission 043205-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R5780 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 51295833-51303968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51299269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 47 (T47A)
Ref Sequence ENSEMBL: ENSMUSP00000103681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038154] [ENSMUST00000108046] [ENSMUST00000141156]
AlphaFold Q8VI64
Predicted Effect probably damaging
Transcript: ENSMUST00000038154
AA Change: T55A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040703
Gene: ENSMUSG00000037161
AA Change: T55A

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 damaging
Transcript: ENSMUST00000108046
AA Change: T47A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103681
Gene: ENSMUSG00000037161
AA Change: T47A

DomainStartEndE-ValueType
Pfam:AIF-MLS 10 177 7.6e-54 PFAM
low complexity region 237 270 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000141156
AA Change: T69A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123126
Gene: ENSMUSG00000037161
AA Change: T69A

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik C T 1: 85,646,039 (GRCm39) A189T probably benign Het
Acsm4 A G 7: 119,293,068 (GRCm39) E66G possibly damaging Het
Afm A G 5: 90,699,290 (GRCm39) E578G possibly damaging Het
Alox5 A T 6: 116,397,310 (GRCm39) D291E probably benign Het
Apoa4 A G 9: 46,153,890 (GRCm39) M164V possibly damaging Het
Atp6v1a A T 16: 43,935,006 (GRCm39) M61K probably benign Het
Avp A G 2: 130,422,629 (GRCm39) S159P probably benign Het
Bicra A T 7: 15,713,679 (GRCm39) L841Q possibly damaging Het
Cdk5rap1 CTT CT 2: 154,187,788 (GRCm39) probably null Het
Clasp2 T G 9: 113,679,220 (GRCm39) L246R probably damaging Het
Dhdds G A 4: 133,724,141 (GRCm39) L58F probably damaging Het
Dmkn A G 7: 30,477,040 (GRCm39) D227G probably damaging Het
Dnah7a G A 1: 53,522,478 (GRCm39) A2920V probably benign Het
Epb41l1 C T 2: 156,338,445 (GRCm39) R163W probably damaging Het
Etfbkmt T A 6: 149,048,657 (GRCm39) Y99N probably damaging Het
Fat4 T C 3: 39,035,104 (GRCm39) Y2919H probably damaging Het
Fcgbp T A 7: 27,784,643 (GRCm39) D234E probably benign Het
Frem1 T C 4: 82,868,652 (GRCm39) D1443G probably benign Het
Fscn2 A C 11: 120,257,494 (GRCm39) E285A probably benign Het
Hmga2 T A 10: 120,298,583 (GRCm39) R79* probably null Het
Hrh3 A T 2: 179,742,608 (GRCm39) V308E probably damaging Het
Hsd11b2 G A 8: 106,248,787 (GRCm39) G93D probably damaging Het
Hydin T C 8: 111,312,712 (GRCm39) F4151S probably damaging Het
Ica1l C A 1: 60,067,374 (GRCm39) E5D probably benign Het
Kcnma1 C A 14: 23,436,419 (GRCm39) E640* probably null Het
Mdn1 C T 4: 32,722,950 (GRCm39) H2422Y probably benign Het
Mmp13 T G 9: 7,278,952 (GRCm39) F348V possibly damaging Het
Mov10l1 A G 15: 88,896,181 (GRCm39) D675G probably benign Het
Mtcl2 A G 2: 156,860,410 (GRCm39) C1610R probably damaging Het
Nxpe3 T A 16: 55,686,804 (GRCm39) Q68L probably damaging Het
Or4k41 A T 2: 111,280,178 (GRCm39) D231V probably benign Het
Or6c208 T C 10: 129,223,939 (GRCm39) S146P probably damaging Het
Or7e175 T A 9: 20,048,793 (GRCm39) M127K probably damaging Het
Pald1 A T 10: 61,174,997 (GRCm39) I751N probably damaging Het
Pramel19 C T 4: 101,798,724 (GRCm39) L232F probably damaging Het
Prickle2 T C 6: 92,435,593 (GRCm39) T3A probably benign Het
Ros1 A T 10: 52,070,953 (GRCm39) C34S probably damaging Het
Sema3f A G 9: 107,559,788 (GRCm39) L702P probably damaging Het
Sptbn2 T A 19: 4,774,695 (GRCm39) L116Q probably damaging Het
Stard9 T C 2: 120,533,877 (GRCm39) V3378A probably benign Het
Sycp2l A G 13: 41,282,976 (GRCm39) I158V possibly damaging Het
Tbc1d10b G A 7: 126,797,925 (GRCm39) R739W possibly damaging Het
Tnik T C 3: 28,648,241 (GRCm39) M431T probably benign Het
Ube4b C T 4: 149,415,821 (GRCm39) R1091Q probably benign Het
Vwce C A 19: 10,627,983 (GRCm39) P481Q probably damaging Het
Zfp1005 T A 2: 150,108,139 (GRCm39) M33K probably benign Het
Other mutations in Mgarp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01611:Mgarp APN 3 51,296,570 (GRCm39) missense probably damaging 0.99
IGL02145:Mgarp APN 3 51,296,453 (GRCm39) missense possibly damaging 0.79
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
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
Predicted Primers PCR Primer
(F):5'- AATCATGCCCACCATCATGTG -3'
(R):5'- CTGCCTTCCCAGAAGTGAAAATC -3'

Sequencing Primer
(F):5'- GTGAGCTAACCCCCTATTTTTGGAG -3'
(R):5'- TTCCCAGAAGTGAAAATCTCTGACAG -3'
Posted On 2016-12-15