Incidental Mutation 'IGL02393:Mterf4'
ID293893
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 #IGL02393
Quality Score
Status
Chromosome1
Chromosomal Location93299211-93305915 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 93302879 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 182 (V182I)
Ref Sequence ENSEMBL: ENSMUSP00000108566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027492] [ENSMUST00000062202] [ENSMUST00000112942] [ENSMUST00000112944]
Predicted Effect probably benign
Transcript: ENSMUST00000027492
AA Change: V182I

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027492
Gene: ENSMUSG00000026273
AA Change: V182I

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: 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 possibly damaging
Transcript: ENSMUST00000112942
AA Change: V182I

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108564
Gene: ENSMUSG00000026273
AA Change: V182I

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 possibly damaging
Transcript: ENSMUST00000112944
AA Change: V182I

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108566
Gene: ENSMUSG00000026273
AA Change: V182I

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: 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik A G 1: 105,687,368 I253M probably damaging Het
Adam32 A T 8: 24,920,053 Y129N probably damaging Het
Afap1l2 T C 19: 56,914,440 K695R probably damaging Het
Arhgap18 T G 10: 26,877,183 S357R probably benign Het
Camsap1 T C 2: 25,938,322 H1130R probably benign Het
Cdkl4 A G 17: 80,560,415 F35L probably damaging Het
Crnn A G 3: 93,149,368 H487R probably damaging Het
Dcaf4 C T 12: 83,530,031 P95L probably damaging Het
Deaf1 A T 7: 141,313,333 V382E possibly damaging Het
Dph7 T G 2: 24,966,597 V187G possibly damaging Het
Fat3 G T 9: 15,988,412 C3108* probably null Het
Ggt5 T C 10: 75,610,237 probably benign Het
Kif26a G A 12: 112,172,664 V396M probably damaging Het
Med17 G A 9: 15,277,667 R101* probably null Het
Nsg1 T C 5: 38,158,911 D32G probably damaging Het
Olfr175-ps1 A G 16: 58,824,046 I221T probably damaging Het
Olfr788 T C 10: 129,473,195 S168P probably damaging Het
Olfr808 T A 10: 129,767,793 V99E probably benign Het
P3h2 T C 16: 25,992,825 Y216C probably damaging Het
Pdzd9 A C 7: 120,662,983 Y85* probably null Het
Prkdc T A 16: 15,816,758 V3589D probably benign Het
Qars A G 9: 108,514,329 T26A probably benign Het
Rhd T C 4: 134,884,095 S189P probably benign Het
Rhobtb1 A T 10: 69,288,987 H555L probably damaging Het
Rogdi G A 16: 5,009,224 S306F probably benign Het
Slc25a25 C T 2: 32,417,843 V259I probably benign Het
Srrm1 A T 4: 135,321,414 probably benign Het
Stkld1 T C 2: 26,950,142 V408A probably benign Het
Thbs1 T C 2: 118,123,099 V999A possibly damaging Het
Tmprss11d T A 5: 86,303,612 *280L probably null Het
Trim54 A G 5: 31,131,980 probably benign Het
Tspear G A 10: 77,836,573 R202H probably damaging Het
Vwa8 G A 14: 79,182,977 G1706D 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
IGL01881:Mterf4 APN 1 93304641 missense probably damaging 1.00
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
X0065:Mterf4 UTSW 1 93301698 missense probably damaging 1.00
Posted On2015-04-16