Incidental Mutation 'IGL01809:Mtf2'
ID155777
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtf2
Ensembl Gene ENSMUSG00000029267
Gene Namemetal response element binding transcription factor 2
SynonymsPcl2, C76717, 9230112N11Rik, M96
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.839) question?
Stock #IGL01809
Quality Score
Status
Chromosome5
Chromosomal Location108065674-108109004 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108087325 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 36 (I36V)
Ref Sequence ENSEMBL: ENSMUSP00000126452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081567] [ENSMUST00000112626] [ENSMUST00000124195] [ENSMUST00000134026] [ENSMUST00000143412] [ENSMUST00000170319] [ENSMUST00000172045]
Predicted Effect probably benign
Transcript: ENSMUST00000081567
AA Change: I138V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000080278
Gene: ENSMUSG00000029267
AA Change: I138V

DomainStartEndE-ValueType
TUDOR 44 101 4.09e-13 SMART
PHD 104 155 3.37e-11 SMART
PHD 203 253 1.23e-4 SMART
low complexity region 496 508 N/A INTRINSIC
Pfam:Mtf2_C 544 591 2.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112626
AA Change: I138V

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000108245
Gene: ENSMUSG00000029267
AA Change: I138V

DomainStartEndE-ValueType
TUDOR 44 101 4.09e-13 SMART
PHD 104 155 3.37e-11 SMART
PHD 203 253 1.23e-4 SMART
low complexity region 439 451 N/A INTRINSIC
Pfam:Mtf2_C 485 535 5.8e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124195
SMART Domains Protein: ENSMUSP00000126297
Gene: ENSMUSG00000029267

DomainStartEndE-ValueType
PDB:2EQJ|A 36 70 2e-17 PDB
Blast:TUDOR 44 75 7e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000129921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131291
Predicted Effect probably benign
Transcript: ENSMUST00000134026
AA Change: I138V

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000128797
Gene: ENSMUSG00000029267
AA Change: I138V

DomainStartEndE-ValueType
TUDOR 44 101 4.09e-13 SMART
PHD 104 155 3.37e-11 SMART
PHD 203 253 1.23e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000137996
AA Change: I43V
SMART Domains Protein: ENSMUSP00000121697
Gene: ENSMUSG00000029267
AA Change: I43V

DomainStartEndE-ValueType
PHD 10 61 3.37e-11 SMART
PHD 109 159 1.23e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141592
Predicted Effect probably benign
Transcript: ENSMUST00000143412
SMART Domains Protein: ENSMUSP00000132596
Gene: ENSMUSG00000029267

DomainStartEndE-ValueType
TUDOR 44 101 1.22e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163823
Predicted Effect probably benign
Transcript: ENSMUST00000170319
AA Change: I20V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000130536
Gene: ENSMUSG00000029267
AA Change: I20V

DomainStartEndE-ValueType
PHD 1 37 6.4e-3 SMART
PHD 85 135 1.23e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172045
AA Change: I36V

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126452
Gene: ENSMUSG00000029267
AA Change: I36V

DomainStartEndE-ValueType
PHD 2 50 2.18e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198662
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit vertebral transformation and delayed replicative senescence in MEFs. Mice homozygous for one gene trap allele exhibit postnatal lethality, vertebral transformation and delayed replicative senescence in MEFs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,290,339 N734I probably damaging Het
Abi1 T C 2: 22,946,717 I371V probably benign Het
Atp8b3 A G 10: 80,520,011 F1289S probably benign Het
Brca2 T A 5: 150,531,061 probably null Het
C8a A T 4: 104,845,942 I306N probably benign Het
Crybg3 G T 16: 59,524,853 probably benign Het
Disp2 T A 2: 118,787,264 probably benign Het
Dtl A G 1: 191,548,303 F373S probably damaging Het
Dynlt1a G A 17: 6,310,872 probably null Het
Dyrk1a G A 16: 94,659,617 R44H probably benign Het
Fam114a2 C T 11: 57,513,635 probably null Het
Fsip2 A G 2: 82,978,347 E1670G possibly damaging Het
Gbp10 A T 5: 105,217,359 N594K probably benign Het
Gpam T A 19: 55,075,625 K679* probably null Het
Gtf2i A T 5: 134,249,950 V524E probably damaging Het
Itpr2 T A 6: 146,227,581 E2011D probably damaging Het
Jag1 C A 2: 137,115,484 G103W probably damaging Het
Klkb1 A T 8: 45,276,053 V378E probably benign Het
Lyst T A 13: 13,637,803 S933R probably damaging Het
Man2b2 T C 5: 36,814,516 S619G probably benign Het
Mex3b T C 7: 82,869,712 S412P probably benign Het
Nckipsd T C 9: 108,817,554 Y652H probably damaging Het
Olfr1136 T C 2: 87,693,745 I46V possibly damaging Het
Olfr870 A G 9: 20,171,295 I92T probably damaging Het
Olfr968 A T 9: 39,772,694 Y35* probably null Het
Olfr994 A G 2: 85,430,154 L225P probably damaging Het
Phykpl T C 11: 51,599,524 F411L probably benign Het
Rbm8a T A 3: 96,631,537 F101I probably damaging Het
Rbp3 G T 14: 33,955,300 G402W probably damaging Het
Recql4 G A 15: 76,708,870 R254* probably null Het
Rsph14 G A 10: 74,957,786 probably benign Het
Stau2 A T 1: 16,440,315 probably null Het
Tmprss11c G A 5: 86,237,662 S304L possibly damaging Het
Vipr1 T G 9: 121,661,440 M184R possibly damaging Het
Zfp106 G A 2: 120,533,671 R752C probably damaging Het
Other mutations in Mtf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Mtf2 APN 5 108106890 missense probably damaging 1.00
IGL01367:Mtf2 APN 5 108104457 missense probably benign 0.44
IGL01452:Mtf2 APN 5 108080943 missense probably damaging 1.00
IGL01459:Mtf2 APN 5 108080943 missense probably damaging 1.00
IGL01460:Mtf2 APN 5 108080943 missense probably damaging 1.00
IGL03166:Mtf2 APN 5 108106720 missense probably benign 0.28
R0667:Mtf2 UTSW 5 108104503 missense probably damaging 1.00
R1533:Mtf2 UTSW 5 108092129 missense probably damaging 1.00
R1664:Mtf2 UTSW 5 108104476 missense probably damaging 1.00
R1723:Mtf2 UTSW 5 108088070 missense probably damaging 1.00
R2154:Mtf2 UTSW 5 108080931 missense possibly damaging 0.79
R2213:Mtf2 UTSW 5 108100914 missense possibly damaging 0.95
R3904:Mtf2 UTSW 5 108081000 missense probably damaging 1.00
R4320:Mtf2 UTSW 5 108087025 missense probably damaging 1.00
R4560:Mtf2 UTSW 5 108086989 splice site probably null
R4764:Mtf2 UTSW 5 108093352 missense probably benign 0.43
R4989:Mtf2 UTSW 5 108073028 intron probably benign
R5305:Mtf2 UTSW 5 108104499 missense possibly damaging 0.84
R5356:Mtf2 UTSW 5 108106610 missense possibly damaging 0.92
R5528:Mtf2 UTSW 5 108094157 missense probably damaging 1.00
R6021:Mtf2 UTSW 5 108081137 missense possibly damaging 0.93
R7164:Mtf2 UTSW 5 108093369 missense possibly damaging 0.53
R7426:Mtf2 UTSW 5 108100970 missense probably benign
R7822:Mtf2 UTSW 5 108080877 nonsense probably null
R8033:Mtf2 UTSW 5 108087085 missense probably damaging 0.99
Z1088:Mtf2 UTSW 5 108087329 missense probably damaging 0.97
Z1176:Mtf2 UTSW 5 108087944 missense probably damaging 1.00
Z1177:Mtf2 UTSW 5 108065902 start gained probably benign
Z1177:Mtf2 UTSW 5 108080888 missense possibly damaging 0.63
Posted On2014-02-04