Incidental Mutation 'IGL01102:Mterf4'
ID50267
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 #IGL01102
Quality Score
Status
Chromosome1
Chromosomal Location93299211-93305915 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 93305090 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 13 (R13H)
Ref Sequence ENSEMBL: ENSMUSP00000108566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027492] [ENSMUST00000027493] [ENSMUST00000062202] [ENSMUST00000112942] [ENSMUST00000112944]
Predicted Effect probably benign
Transcript: ENSMUST00000027492
AA Change: R13H

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027492
Gene: ENSMUSG00000026273
AA Change: R13H

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 benign
Transcript: ENSMUST00000112942
AA Change: R13H

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108564
Gene: ENSMUSG00000026273
AA Change: R13H

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: R13H

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108566
Gene: ENSMUSG00000026273
AA Change: R13H

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: ENSMUST00000133886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148355
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,433,956 probably benign Het
Bloc1s2-ps C T 2: 52,619,902 A50V probably benign Het
Col4a3 A G 1: 82,669,720 D455G unknown Het
Col4a3 A G 1: 82,670,255 I496V unknown Het
Coro1c A T 5: 113,849,614 M222K probably benign Het
Dnah5 T A 15: 28,410,003 probably null Het
Emc4 C A 2: 112,367,526 probably benign Het
Fam160a1 A G 3: 85,665,501 probably benign Het
Fcer2a T C 8: 3,688,842 D32G possibly damaging Het
Garnl3 T C 2: 33,006,816 K559E probably damaging Het
Gckr T C 5: 31,309,037 L452P probably damaging Het
Gm13119 A G 4: 144,363,625 I412V probably benign Het
Gm4841 A G 18: 60,270,052 V323A probably damaging Het
Gm6902 T A 7: 23,273,662 I147L probably benign Het
Gpr75 T C 11: 30,891,755 V220A probably benign Het
Hdac6 A G X: 7,946,998 S42P probably benign Het
Hdhd2 A G 18: 76,956,911 N128S probably damaging Het
Hsd3b2 G T 3: 98,711,679 R317S probably damaging Het
Il23r T A 6: 67,423,925 I474F probably damaging Het
Itga5 T C 15: 103,346,675 Y954C probably benign Het
Itgam T C 7: 128,080,273 F196L possibly damaging Het
Mapkbp1 T C 2: 120,021,858 V957A possibly damaging Het
Mblac2 T C 13: 81,750,006 M167T probably damaging Het
Npffr1 T G 10: 61,614,208 V87G probably damaging Het
Olfr186 G A 16: 59,027,829 P26L probably benign Het
Olfr813 A G 10: 129,856,628 I37V probably benign Het
Phldb2 A G 16: 45,825,060 L386P probably damaging Het
Ppp1r13b A G 12: 111,833,219 I708T probably benign Het
Ramp2 T A 11: 101,247,627 Y85N probably benign Het
Rnf217 A G 10: 31,608,503 Y228H probably damaging Het
Rock1 T G 18: 10,080,502 D1014A probably benign Het
Scyl3 T A 1: 163,934,769 C101* probably null Het
Sema6b G T 17: 56,132,761 L27I possibly damaging Het
Slc10a5 A G 3: 10,335,309 V97A probably benign Het
Strc C A 2: 121,365,060 R1636L probably benign Het
Tm9sf1 T A 14: 55,642,767 T58S probably damaging Het
Tmem106c T C 15: 97,966,944 Y85H probably damaging Het
Uhrf1bp1l T C 10: 89,791,378 L435P probably benign Het
Vmn2r9 A G 5: 108,842,945 probably null Het
Vps13a A G 19: 16,651,417 probably null Het
Zfp976 A T 7: 42,613,909 L168* probably null Het
Other mutations in Mterf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
X0065:Mterf4 UTSW 1 93301698 missense probably damaging 1.00
Posted On2013-06-21