Incidental Mutation 'IGL03106:Mterf3'
ID418960
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mterf3
Ensembl Gene ENSMUSG00000021519
Gene Namemitochondrial transcription termination factor 3
Synonyms2410017I18Rik, Mterfd1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03106
Quality Score
Status
Chromosome13
Chromosomal Location66906968-66933088 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 66930157 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 16 (K16R)
Ref Sequence ENSEMBL: ENSMUSP00000133433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021990] [ENSMUST00000021991] [ENSMUST00000172597] [ENSMUST00000173158] [ENSMUST00000173407] [ENSMUST00000173773] [ENSMUST00000173910] [ENSMUST00000174339] [ENSMUST00000224085] [ENSMUST00000224244] [ENSMUST00000224290]
Predicted Effect probably benign
Transcript: ENSMUST00000021990
SMART Domains Protein: ENSMUSP00000021990
Gene: ENSMUSG00000021518

DomainStartEndE-ValueType
transmembrane domain 37 59 N/A INTRINSIC
transmembrane domain 72 89 N/A INTRINSIC
Pfam:PSS 96 372 1.3e-108 PFAM
transmembrane domain 383 405 N/A INTRINSIC
low complexity region 442 464 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000021991
AA Change: K16R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021991
Gene: ENSMUSG00000021519
AA Change: K16R

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 damaging
Transcript: ENSMUST00000172597
AA Change: K16R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133433
Gene: ENSMUSG00000021519
AA Change: K16R

DomainStartEndE-ValueType
low complexity region 97 117 N/A INTRINSIC
PDB:3OPG|A 121 204 2e-40 PDB
Blast:Mterf 161 196 1e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173062
Predicted Effect possibly damaging
Transcript: ENSMUST00000173158
AA Change: K16R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134032
Gene: ENSMUSG00000021519
AA Change: K16R

DomainStartEndE-ValueType
low complexity region 97 108 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000173407
AA Change: K16R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133594
Gene: ENSMUSG00000021519
AA Change: K16R

DomainStartEndE-ValueType
low complexity region 97 108 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000173773
AA Change: K16R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000173910
SMART Domains Protein: ENSMUSP00000133456
Gene: ENSMUSG00000021519

DomainStartEndE-ValueType
low complexity region 23 41 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174011
Predicted Effect possibly damaging
Transcript: ENSMUST00000174339
AA Change: K16R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134286
Gene: ENSMUSG00000021519
AA Change: K16R

DomainStartEndE-ValueType
low complexity region 97 117 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000224085
AA Change: K16R

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000224244
Predicted Effect probably benign
Transcript: ENSMUST00000224290
Coding Region Coverage
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 G T 8: 24,715,119 probably benign Het
Adgrv1 T C 13: 81,472,899 N3911S probably benign Het
Alox12b C T 11: 69,168,876 Q585* probably null Het
Amtn A G 5: 88,378,085 Q36R probably benign Het
Arg2 G A 12: 79,149,891 G129S probably damaging Het
Arhgef28 A C 13: 97,957,793 Y948D probably damaging Het
Atp10b T C 11: 43,247,477 V1195A probably benign Het
Bet1l G T 7: 140,854,610 T42K probably benign Het
Cabin1 G A 10: 75,733,628 T875I probably benign Het
Ccdc17 A G 4: 116,596,836 probably null Het
Crebrf A G 17: 26,771,319 E612G probably damaging Het
Cyp2c67 A T 19: 39,643,675 M83K probably benign Het
Dgkz A G 2: 91,940,859 S414P probably damaging Het
Dock10 G T 1: 80,568,834 H411N probably damaging Het
Dpyd A T 3: 119,195,134 T749S probably benign Het
Dsc1 C T 18: 20,086,644 probably null Het
Echdc1 A T 10: 29,322,280 M74L probably damaging Het
Edn1 C A 13: 42,305,023 T104K possibly damaging Het
Fat2 T A 11: 55,311,901 T116S probably benign Het
Fcrl5 A T 3: 87,435,883 probably null Het
Fpgt C T 3: 155,087,122 G423R probably damaging Het
Gprc5b A T 7: 118,984,193 V151E probably damaging Het
Grm5 A G 7: 88,036,070 Y465C probably damaging Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Ighmbp2 T C 19: 3,273,022 K308R possibly damaging Het
Lrch1 A T 14: 74,835,762 S146T possibly damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Ncapg T A 5: 45,695,668 H825Q probably damaging Het
Olfr1095 A C 2: 86,851,614 L28R possibly damaging Het
Olfr1138 A T 2: 87,738,118 S69T probably benign Het
Olfr1392 T A 11: 49,294,161 I280N probably damaging Het
Olfr1443 G A 19: 12,680,923 V272M possibly damaging Het
Olfr31 G A 14: 14,328,851 V247I probably damaging Het
Olfr984 A G 9: 40,100,734 V252A probably damaging Het
Pald1 A T 10: 61,347,105 M355K probably benign Het
Phc1 A G 6: 122,323,469 probably benign Het
Phkb T A 8: 86,018,466 probably benign Het
Pkn3 G T 2: 30,085,245 R506L probably damaging Het
Plod2 T C 9: 92,573,567 Y100H probably damaging Het
Prl7b1 G T 13: 27,606,935 Q56K probably benign Het
Rhot1 T A 11: 80,242,581 C229* probably null Het
Sema3a G A 5: 13,599,488 R735Q probably damaging Het
Slc18b1 A G 10: 23,826,659 *460W probably null Het
Slco6c1 T A 1: 97,066,023 probably benign Het
Slu7 T A 11: 43,442,630 V359D possibly damaging Het
Suco T C 1: 161,834,480 Y794C possibly damaging Het
Sult3a2 T C 10: 33,779,773 N70S probably benign Het
Taar2 A T 10: 23,941,297 D245V probably damaging Het
Taf1d A G 9: 15,309,941 H181R possibly damaging Het
Tmem33 T C 5: 67,263,796 S38P probably damaging Het
Traf3ip1 T C 1: 91,522,887 S519P probably benign Het
Ttc12 T C 9: 49,458,062 K253E possibly damaging Het
Other mutations in Mterf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0630:Mterf3 UTSW 13 66912308 missense probably damaging 1.00
R0636:Mterf3 UTSW 13 66922753 intron probably benign
R1403:Mterf3 UTSW 13 66929880 unclassified probably benign
R1447:Mterf3 UTSW 13 66917039 missense probably damaging 1.00
R1573:Mterf3 UTSW 13 66922903 missense possibly damaging 0.73
R1919:Mterf3 UTSW 13 66930062 missense probably damaging 0.97
R2327:Mterf3 UTSW 13 66928194 missense probably damaging 1.00
R5549:Mterf3 UTSW 13 66928257 missense probably benign 0.32
R6590:Mterf3 UTSW 13 66917046 missense probably damaging 1.00
R6690:Mterf3 UTSW 13 66917046 missense probably damaging 1.00
R7599:Mterf3 UTSW 13 66917148 missense probably damaging 1.00
R8297:Mterf3 UTSW 13 66907158 missense
Posted On2016-08-02