Incidental Mutation 'R8444:Mtg1'
ID 654388
Institutional Source Beutler Lab
Gene Symbol Mtg1
Ensembl Gene ENSMUSG00000039018
Gene Name mitochondrial ribosome-associated GTPase 1
Synonyms LOC212508, Gtpbp7
MMRRC Submission 067826-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8444 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 139717477-139730699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139718283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 54 (V54A)
Ref Sequence ENSEMBL: ENSMUSP00000036491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026537] [ENSMUST00000036977] [ENSMUST00000097967] [ENSMUST00000124253]
AlphaFold Q8R2R6
Predicted Effect probably benign
Transcript: ENSMUST00000026537
SMART Domains Protein: ENSMUSP00000026537
Gene: ENSMUSG00000025464

DomainStartEndE-ValueType
Pfam:NAD_binding_8 10 79 4.1e-14 PFAM
Pfam:Amino_oxidase 15 490 4.9e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000036977
AA Change: V54A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036491
Gene: ENSMUSG00000039018
AA Change: V54A

DomainStartEndE-ValueType
SCOP:d1egaa1 31 129 5e-6 SMART
Pfam:FeoB_N 143 219 3.9e-6 PFAM
Pfam:MMR_HSR1 144 283 2.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097967
SMART Domains Protein: ENSMUSP00000095580
Gene: ENSMUSG00000025464

DomainStartEndE-ValueType
Pfam:NAD_binding_8 10 77 1.4e-8 PFAM
Pfam:Amino_oxidase 52 260 1.5e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124253
AA Change: V14A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000211171
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010K14Rik G T 11: 70,127,755 (GRCm39) R56S possibly damaging Het
Abca14 T A 7: 119,918,133 (GRCm39) I1545K probably damaging Het
Abca3 A G 17: 24,602,959 (GRCm39) Y518C probably damaging Het
Abcd2 A G 15: 91,058,839 (GRCm39) V535A probably benign Het
Adcy9 T C 16: 4,106,487 (GRCm39) T1113A probably damaging Het
Afdn A T 17: 14,104,062 (GRCm39) N1133Y probably benign Het
Aip T A 19: 4,166,034 (GRCm39) D139V probably damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Aldh16a1 G A 7: 44,799,115 (GRCm39) P56S probably benign Het
Alpk3 A C 7: 80,707,468 (GRCm39) T31P probably benign Het
Aoc3 G T 11: 101,232,573 (GRCm39) R466S unknown Het
Atoh1 T C 6: 64,706,641 (GRCm39) L112P probably benign Het
Atp2b2 T A 6: 113,770,772 (GRCm39) N424I probably benign Het
Brms1 T C 19: 5,091,520 (GRCm39) probably null Het
Casc3 C T 11: 98,713,607 (GRCm39) R280C probably damaging Het
Cd34 T A 1: 194,640,808 (GRCm39) S224R probably benign Het
Cdh20 T A 1: 104,898,583 (GRCm39) F437I probably benign Het
Cdkal1 A T 13: 29,510,087 (GRCm39) V557E probably benign Het
Cfap276 A G 3: 108,451,384 (GRCm39) H115R probably benign Het
Chst5 T C 8: 112,617,395 (GRCm39) H75R probably damaging Het
Col5a2 A T 1: 45,435,305 (GRCm39) N713K probably benign Het
Cpne5 A T 17: 29,407,357 (GRCm39) M181K probably benign Het
Cpt1a T C 19: 3,431,981 (GRCm39) F731S probably benign Het
Cyfip1 A G 7: 55,521,902 (GRCm39) M69V possibly damaging Het
Dennd3 A G 15: 73,442,672 (GRCm39) K1232E probably benign Het
Dennd4b A T 3: 90,181,259 (GRCm39) H805L probably benign Het
Dnm1l C T 16: 16,158,906 (GRCm39) R108Q probably damaging Het
Dsc1 T A 18: 20,222,636 (GRCm39) D612V probably benign Het
Ephb2 C T 4: 136,388,711 (GRCm39) G628R probably damaging Het
Esrrb G A 12: 86,552,595 (GRCm39) R195H probably benign Het
Flg2 A T 3: 93,107,585 (GRCm39) E23D probably damaging Het
Gja8 A G 3: 96,826,990 (GRCm39) L224P probably damaging Het
Hps6 T G 19: 45,993,867 (GRCm39) S601R possibly damaging Het
Ice1 T C 13: 70,752,495 (GRCm39) E1197G probably damaging Het
Ifnar2 C A 16: 91,200,857 (GRCm39) A366D possibly damaging Het
Ighm A C 12: 113,384,813 (GRCm39) S347A Het
Immt C T 6: 71,848,492 (GRCm39) R494* probably null Het
Irs2 A G 8: 11,056,683 (GRCm39) V583A probably damaging Het
Kcnk4 T C 19: 6,903,508 (GRCm39) E347G probably damaging Het
Kif5b T A 18: 6,213,245 (GRCm39) I716F probably benign Het
Klhl1 T A 14: 96,755,326 (GRCm39) D143V probably benign Het
Lrp1b T C 2: 40,760,272 (GRCm39) T2999A Het
Map3k9 A G 12: 81,768,970 (GRCm39) L1026P probably damaging Het
Mx1 G T 16: 97,252,687 (GRCm39) C231* probably null Het
Odad4 G T 11: 100,452,731 (GRCm39) probably null Het
Or10ag59 G A 2: 87,406,083 (GRCm39) M218I probably benign Het
Or56a41 A G 7: 104,740,165 (GRCm39) V227A probably damaging Het
Or5p6 C A 7: 107,631,070 (GRCm39) W160L probably benign Het
Or5p79 A G 7: 108,221,027 (GRCm39) I3V probably benign Het
Or6c65 T A 10: 129,603,794 (GRCm39) V143E probably damaging Het
Otogl T A 10: 107,692,975 (GRCm39) E836D probably benign Het
Pde6d A G 1: 86,471,250 (GRCm39) S143P probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pon1 C T 6: 5,177,327 (GRCm39) W194* probably null Het
Rbm25 T A 12: 83,711,025 (GRCm39) S379R unknown Het
Rnf111 A T 9: 70,365,223 (GRCm39) S415T probably benign Het
Shoc2 A G 19: 53,976,503 (GRCm39) Y131C probably damaging Het
Slc23a1 T A 18: 35,757,489 (GRCm39) M261L possibly damaging Het
Slc34a1 A T 13: 24,003,061 (GRCm39) H237L probably benign Het
Slc35d1 G C 4: 103,071,896 (GRCm39) I35M Het
Slc8b1 C T 5: 120,651,203 (GRCm39) probably benign Het
Smr3a A C 5: 88,152,611 (GRCm39) L8F unknown Het
Snx8 G A 5: 140,343,929 (GRCm39) R96C possibly damaging Het
Srgap3 A G 6: 112,752,509 (GRCm39) V325A possibly damaging Het
Stk40 A G 4: 126,012,127 (GRCm39) T10A probably benign Het
Tmem177 A T 1: 119,837,950 (GRCm39) V243D probably benign Het
Trim6 G A 7: 103,881,879 (GRCm39) V403M probably damaging Het
Tysnd1 A G 10: 61,531,950 (GRCm39) R201G probably benign Het
Vmn2r67 A T 7: 84,785,854 (GRCm39) F717Y probably benign Het
Vmn2r72 A G 7: 85,387,383 (GRCm39) V727A probably benign Het
Wdr49 A C 3: 75,358,997 (GRCm39) D43E probably benign Het
Zbtb8b A G 4: 129,326,424 (GRCm39) V247A probably benign Het
Zfp532 C A 18: 65,757,330 (GRCm39) A421E possibly damaging Het
Other mutations in Mtg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Mtg1 APN 7 139,730,149 (GRCm39) missense probably benign 0.00
IGL02105:Mtg1 APN 7 139,730,119 (GRCm39) missense probably damaging 1.00
IGL02458:Mtg1 APN 7 139,730,085 (GRCm39) missense probably benign 0.01
IGL02682:Mtg1 APN 7 139,724,642 (GRCm39) splice site probably benign
R0666:Mtg1 UTSW 7 139,724,257 (GRCm39) missense probably benign
R0893:Mtg1 UTSW 7 139,729,665 (GRCm39) missense probably damaging 1.00
R3707:Mtg1 UTSW 7 139,729,717 (GRCm39) missense probably damaging 0.99
R4993:Mtg1 UTSW 7 139,720,196 (GRCm39) missense probably null 1.00
R5810:Mtg1 UTSW 7 139,725,898 (GRCm39) splice site probably null
R5886:Mtg1 UTSW 7 139,729,778 (GRCm39) splice site probably null
R5960:Mtg1 UTSW 7 139,726,906 (GRCm39) unclassified probably benign
R7069:Mtg1 UTSW 7 139,723,657 (GRCm39) missense probably benign 0.00
R7110:Mtg1 UTSW 7 139,726,779 (GRCm39) missense probably benign 0.02
R7492:Mtg1 UTSW 7 139,724,610 (GRCm39) missense probably damaging 1.00
R7790:Mtg1 UTSW 7 139,729,662 (GRCm39) missense probably damaging 1.00
R7917:Mtg1 UTSW 7 139,727,178 (GRCm39) missense probably damaging 1.00
R8155:Mtg1 UTSW 7 139,724,622 (GRCm39) missense probably benign 0.07
R8713:Mtg1 UTSW 7 139,720,136 (GRCm39) missense probably benign 0.12
R8713:Mtg1 UTSW 7 139,717,688 (GRCm39) critical splice donor site probably null
R9424:Mtg1 UTSW 7 139,727,212 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTGATTAAGACCATCTTGTGTG -3'
(R):5'- TTACAAAAGAAGCTGTCGCAG -3'

Sequencing Primer
(F):5'- GTGTGAAATGTACCTTCCAGAACC -3'
(R):5'- CTGTCGCAGCTGTAGACATAATG -3'
Posted On 2020-10-20