Incidental Mutation 'IGL01881:Mterf4'
ID179027
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mterf4
Ensembl Gene ENSMUSG00000026273
Gene Namemitochondrial transcription termination factor 4
Synonyms4933412H03Rik, Mterfd2, 1810059A23Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01881
Quality Score
Status
Chromosome1
Chromosomal Location93299211-93305915 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93304641 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 163 (S163P)
Ref Sequence ENSEMBL: ENSMUSP00000108566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027492] [ENSMUST00000027493] [ENSMUST00000062202] [ENSMUST00000112942] [ENSMUST00000112944]
Predicted Effect probably damaging
Transcript: ENSMUST00000027492
AA Change: S163P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027492
Gene: ENSMUSG00000026273
AA Change: S163P

DomainStartEndE-ValueType
low complexity region 124 136 N/A INTRINSIC
Mterf 142 172 1.28e2 SMART
Mterf 177 208 1.1e1 SMART
Mterf 213 244 3.89e0 SMART
Mterf 246 274 2.06e2 SMART
low complexity region 323 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000027493
SMART Domains Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274

DomainStartEndE-ValueType
PAS 119 186 3.87e-8 SMART
PAS 333 400 3.08e-2 SMART
low complexity region 907 918 N/A INTRINSIC
low complexity region 1043 1054 N/A INTRINSIC
S_TKc 1059 1311 8.16e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000062202
SMART Domains Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
NIDO 103 260 2.98e-54 SMART
EGF 271 309 3.79e-6 SMART
EGF_CA 311 347 2.42e-13 SMART
EGF 352 385 1.02e-6 SMART
EGF_CA 387 423 1.91e-11 SMART
EGF 432 465 2.96e-8 SMART
EGF 471 500 6.02e0 SMART
EGF 544 577 3.54e-6 SMART
EGF 583 616 6.06e-5 SMART
EGF_CA 619 655 2.33e-6 SMART
EGF 660 693 1.77e-6 SMART
CCP 698 751 2.5e-11 SMART
EGF_CA 753 789 1.66e-11 SMART
EGF_CA 791 827 1.38e-8 SMART
EGF_CA 829 865 1.92e-7 SMART
EGF 870 903 2.35e-2 SMART
FN3 906 991 1.7e-4 SMART
FN3 1005 1084 1.38e-4 SMART
FN3 1104 1185 1.6e-9 SMART
EGF 1309 1342 6.16e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112942
AA Change: S163P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108564
Gene: ENSMUSG00000026273
AA Change: S163P

DomainStartEndE-ValueType
PDB:4FP9|H 50 235 7e-55 PDB
Blast:Mterf 142 167 1e-7 BLAST
Blast:Mterf 178 208 8e-13 BLAST
Blast:Mterf 213 235 6e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000112944
AA Change: S163P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108566
Gene: ENSMUSG00000026273
AA Change: S163P

DomainStartEndE-ValueType
PDB:4FP9|H 50 235 6e-54 PDB
Blast:Mterf 142 167 6e-8 BLAST
Blast:Mterf 178 208 2e-12 BLAST
Blast:Mterf 213 235 1e-7 BLAST
low complexity region 253 273 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189856
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with decreased embryo size, lack of heart, and absence of optic discs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asl A T 5: 130,018,538 probably benign Het
Cd3g A T 9: 44,971,268 Y160N probably damaging Het
Exoc8 T A 8: 124,896,351 R426W probably damaging Het
Fam216a A G 5: 122,367,635 Y114H probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm3402 A T 5: 146,514,598 I89F possibly damaging Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Myo7b G A 18: 32,000,267 probably benign Het
Pde6b A T 5: 108,421,500 M358L probably benign Het
Ppp1cb A G 5: 32,478,143 I44V probably benign Het
Slitrk3 T C 3: 73,049,306 E711G probably benign Het
Trappc9 A T 15: 72,999,992 L492Q probably damaging Het
Tulp2 C T 7: 45,520,795 R297W probably damaging Het
Other mutations in Mterf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Mterf4 APN 1 93305090 missense possibly damaging 0.83
IGL01686:Mterf4 APN 1 93304721 nonsense probably null
IGL01770:Mterf4 APN 1 93304994 missense probably damaging 1.00
IGL01801:Mterf4 APN 1 93304920 missense probably benign 0.02
IGL02393:Mterf4 APN 1 93302879 missense possibly damaging 0.81
IGL02413:Mterf4 APN 1 93302804 missense probably damaging 1.00
IGL02812:Mterf4 APN 1 93304733 missense probably damaging 1.00
R4083:Mterf4 UTSW 1 93304658 missense possibly damaging 0.85
R4726:Mterf4 UTSW 1 93301749 missense probably damaging 0.98
R4926:Mterf4 UTSW 1 93304925 missense probably benign 0.05
R6091:Mterf4 UTSW 1 93301569 missense probably damaging 1.00
R7065:Mterf4 UTSW 1 93304895 missense probably benign 0.01
R7780:Mterf4 UTSW 1 93304967 missense probably benign 0.01
R7922:Mterf4 UTSW 1 93301553 nonsense probably null
X0065:Mterf4 UTSW 1 93301698 missense probably damaging 1.00
Posted On2014-05-07