Incidental Mutation 'R8297:Mterf3'
ID 639032
Institutional Source Beutler Lab
Gene Symbol Mterf3
Ensembl Gene ENSMUSG00000021519
Gene Name mitochondrial transcription termination factor 3
Synonyms 2410017I18Rik, Mterfd1
MMRRC Submission 067853-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8297 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 67055032-67081152 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67055222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 69 (V69A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021991] [ENSMUST00000021993] [ENSMUST00000099412] [ENSMUST00000168767] [ENSMUST00000173158]
AlphaFold Q8R3J4
Predicted Effect probably benign
Transcript: ENSMUST00000021991
SMART Domains Protein: ENSMUSP00000021991
Gene: ENSMUSG00000021519

DomainStartEndE-ValueType
low complexity region 97 117 N/A INTRINSIC
Mterf 161 196 1.63e3 SMART
Mterf 201 231 7.37e-1 SMART
Mterf 236 267 4.68e-3 SMART
Mterf 272 303 2.12e-1 SMART
Mterf 308 339 4.11e1 SMART
Mterf 340 370 9.22e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021993
SMART Domains Protein: ENSMUSP00000021993
Gene: ENSMUSG00000021520

DomainStartEndE-ValueType
Pfam:UCR_14kD 8 106 1.2e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099412
SMART Domains Protein: ENSMUSP00000133648
Gene: ENSMUSG00000074826

DomainStartEndE-ValueType
Pfam:RAM 9 89 1.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168767
SMART Domains Protein: ENSMUSP00000133647
Gene: ENSMUSG00000074826

DomainStartEndE-ValueType
Pfam:RAM 10 87 5.5e-24 PFAM
low complexity region 89 103 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173158
SMART Domains Protein: ENSMUSP00000134032
Gene: ENSMUSG00000021519

DomainStartEndE-ValueType
low complexity region 97 108 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000133330
Gene: ENSMUSG00000021519
AA Change: V69A

DomainStartEndE-ValueType
Pfam:mTERF 2 67 2.2e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit embryonic growth retardation and die by E10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik T C 10: 21,497,578 (GRCm39) L73P probably damaging Het
4933412E24Rik T G 15: 59,887,524 (GRCm39) R305S probably damaging Het
Adamts19 T A 18: 58,970,920 (GRCm39) V168E probably damaging Het
Ankrd34b T A 13: 92,576,097 (GRCm39) L443Q probably damaging Het
Ano3 A G 2: 110,491,616 (GRCm39) Y887H probably damaging Het
Arhgef2 A T 3: 88,546,739 (GRCm39) H553L probably benign Het
Atxn1 G T 13: 45,720,505 (GRCm39) N463K probably benign Het
Birc6 A G 17: 74,932,099 (GRCm39) probably null Het
C4bp A G 1: 130,564,482 (GRCm39) S401P probably damaging Het
Cd5 T A 19: 10,697,609 (GRCm39) R457W probably damaging Het
Chek2 T G 5: 110,996,302 (GRCm39) Y127D probably damaging Het
Clec4a1 G A 6: 122,898,960 (GRCm39) V10M probably damaging Het
Cltc A G 11: 86,603,457 (GRCm39) Y790H probably damaging Het
Cops2 T C 2: 125,701,028 (GRCm39) probably benign Het
Cyb5d2 A G 11: 72,679,929 (GRCm39) F122S probably damaging Het
Daam1 T A 12: 71,998,689 (GRCm39) L548H unknown Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Dsg1a A C 18: 20,465,090 (GRCm39) N427T probably benign Het
Ear14 A T 14: 51,441,564 (GRCm39) D140V probably damaging Het
Epha4 A C 1: 77,483,547 (GRCm39) F154C probably damaging Het
Ets2 G A 16: 95,507,321 (GRCm39) V12M probably damaging Het
Fbxo40 G A 16: 36,789,670 (GRCm39) T480I probably damaging Het
Fdps A T 3: 89,001,048 (GRCm39) Y322N probably damaging Het
Gca T C 2: 62,516,700 (GRCm39) M132T probably benign Het
Ifi203 T G 1: 173,765,496 (GRCm39) K26T probably damaging Het
Itga10 A G 3: 96,562,116 (GRCm39) R668G probably damaging Het
Itgal T C 7: 126,929,638 (GRCm39) I1185T unknown Het
Kcnj13 A T 1: 87,314,189 (GRCm39) N344K probably damaging Het
Kdm5a A T 6: 120,358,516 (GRCm39) L186F probably benign Het
Klhl8 T C 5: 104,010,954 (GRCm39) N624D probably benign Het
Klrb1 G T 6: 128,689,222 (GRCm39) T83K possibly damaging Het
Krt77 TGCCGCCGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGCCGC 15: 101,768,407 (GRCm39) probably benign Het
Ltb G T 17: 35,413,655 (GRCm39) R53L probably benign Het
Mvb12a A G 8: 71,997,888 (GRCm39) K101E probably damaging Het
Nbeal2 T A 9: 110,464,409 (GRCm39) Q1110L possibly damaging Het
Neb T A 2: 52,198,775 (GRCm39) T389S possibly damaging Het
Nol4 A G 18: 23,173,069 (GRCm39) F11L probably damaging Het
Or10p22 T C 10: 128,826,708 (GRCm39) L309P possibly damaging Het
Or2a54 A G 6: 43,093,440 (GRCm39) I255V probably benign Het
Or2h15 A G 17: 38,441,484 (GRCm39) S200P probably damaging Het
Or52e8b C T 7: 104,673,885 (GRCm39) G97R probably benign Het
Pde2a T A 7: 101,153,880 (GRCm39) Y487N possibly damaging Het
Pde4a C T 9: 21,077,404 (GRCm39) P61S possibly damaging Het
Pramel16 T A 4: 143,675,690 (GRCm39) T379S probably benign Het
Prr5l A G 2: 101,571,630 (GRCm39) probably null Het
Ptpn6 G A 6: 124,705,614 (GRCm39) T179I possibly damaging Het
Ralyl T C 3: 14,104,836 (GRCm39) S34P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Robo2 A T 16: 73,812,814 (GRCm39) C293* probably null Het
Rtn4 T G 11: 29,655,536 (GRCm39) D169E probably damaging Het
Slc22a22 A T 15: 57,122,506 (GRCm39) V157E probably damaging Het
Sytl2 A G 7: 90,034,283 (GRCm39) T498A probably benign Het
Tgm6 G A 2: 129,979,358 (GRCm39) V163I probably benign Het
Tnpo3 A T 6: 29,582,302 (GRCm39) C187S possibly damaging Het
Ttn A G 2: 76,616,485 (GRCm39) probably null Het
Tut4 G A 4: 108,336,905 (GRCm39) A210T possibly damaging Het
Vangl2 C A 1: 171,837,513 (GRCm39) V99F possibly damaging Het
Vmn1r167 C T 7: 23,204,215 (GRCm39) C267Y probably damaging Het
Vsig10l T C 7: 43,113,531 (GRCm39) V161A possibly damaging Het
Xrcc5 G A 1: 72,364,244 (GRCm39) R232Q possibly damaging Het
Xrcc6 C G 15: 81,913,463 (GRCm39) F365L probably damaging Het
Zdhhc13 A G 7: 48,465,257 (GRCm39) Y389C probably damaging Het
Other mutations in Mterf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03106:Mterf3 APN 13 67,078,221 (GRCm39) missense probably damaging 1.00
R0630:Mterf3 UTSW 13 67,060,372 (GRCm39) missense probably damaging 1.00
R0636:Mterf3 UTSW 13 67,070,817 (GRCm39) intron probably benign
R1403:Mterf3 UTSW 13 67,077,944 (GRCm39) unclassified probably benign
R1447:Mterf3 UTSW 13 67,065,103 (GRCm39) missense probably damaging 1.00
R1573:Mterf3 UTSW 13 67,070,967 (GRCm39) missense possibly damaging 0.73
R1919:Mterf3 UTSW 13 67,078,126 (GRCm39) missense probably damaging 0.97
R2327:Mterf3 UTSW 13 67,076,258 (GRCm39) missense probably damaging 1.00
R5549:Mterf3 UTSW 13 67,076,321 (GRCm39) missense probably benign 0.32
R6590:Mterf3 UTSW 13 67,065,110 (GRCm39) missense probably damaging 1.00
R6690:Mterf3 UTSW 13 67,065,110 (GRCm39) missense probably damaging 1.00
R7599:Mterf3 UTSW 13 67,065,212 (GRCm39) missense probably damaging 1.00
R8890:Mterf3 UTSW 13 67,064,676 (GRCm39) critical splice donor site probably null
R9347:Mterf3 UTSW 13 67,062,852 (GRCm39) missense possibly damaging 0.75
R9799:Mterf3 UTSW 13 67,062,780 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- GCCAGTGTTCTGAATCCAATAC -3'
(R):5'- TGCACATAAGACTGGATTTTGTGAC -3'

Sequencing Primer
(F):5'- GGACAGCATAGAACTGTC -3'
(R):5'- AAGACTGGATTTTGTGACTGTTATTC -3'
Posted On 2020-07-28