Incidental Mutation 'IGL01346:Tmco4'
ID75061
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmco4
Ensembl Gene ENSMUSG00000041143
Gene Nametransmembrane and coiled-coil domains 4
Synonyms4632413C14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL01346
Quality Score
Status
Chromosome4
Chromosomal Location138972888-139059171 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 139020949 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 280 (I280T)
Ref Sequence ENSEMBL: ENSMUSP00000059320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043042] [ENSMUST00000050949]
Predicted Effect probably damaging
Transcript: ENSMUST00000043042
AA Change: I280T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041388
Gene: ENSMUSG00000041143
AA Change: I280T

DomainStartEndE-ValueType
Pfam:DUF726 182 518 1.1e-138 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000050949
AA Change: I280T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059320
Gene: ENSMUSG00000041143
AA Change: I280T

DomainStartEndE-ValueType
Pfam:DUF726 182 518 5.3e-145 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124835
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,311,060 V135A unknown Het
4930402H24Rik A G 2: 130,791,846 probably benign Het
Cnot4 A T 6: 35,070,248 I143N probably damaging Het
Cnot6l A T 5: 96,086,246 M302K probably damaging Het
Dmxl2 T C 9: 54,415,475 T1542A probably damaging Het
Dnhd1 T C 7: 105,713,909 S3893P probably benign Het
Duox2 A T 2: 122,287,202 probably benign Het
Dusp1 T C 17: 26,506,321 N355D probably benign Het
Fam76b T C 9: 13,829,750 C60R probably damaging Het
Gnptab G A 10: 88,436,179 V944I possibly damaging Het
Gys1 A G 7: 45,442,537 Y249C probably damaging Het
Ift88 A T 14: 57,444,405 E215D probably damaging Het
Kcnu1 T C 8: 25,934,523 probably benign Het
Lmln C A 16: 33,117,120 N618K probably benign Het
Lrrc75a T C 11: 62,605,987 T250A probably damaging Het
Mpp4 A G 1: 59,125,560 S435P probably damaging Het
Myo1c T A 11: 75,672,250 V1036E probably damaging Het
Nlrp12 T G 7: 3,240,686 T399P probably damaging Het
Olfr1223 A G 2: 89,144,231 F264S possibly damaging Het
Olfr1388 A G 11: 49,444,768 R306G probably benign Het
Parp8 A T 13: 116,895,064 C332S possibly damaging Het
Pdcd11 G A 19: 47,109,614 V780I probably benign Het
Plekha5 A G 6: 140,534,566 probably benign Het
Ppt1 T A 4: 122,844,055 I62K probably damaging Het
Proser3 T C 7: 30,549,646 N7S probably benign Het
Ptk2b A G 14: 66,177,118 L311P possibly damaging Het
Rasal2 T C 1: 157,161,216 N706S probably benign Het
Ripk2 A G 4: 16,132,775 probably null Het
Setx T A 2: 29,144,809 H435Q probably damaging Het
Smurf2 T A 11: 106,830,915 probably benign Het
Snx32 A G 19: 5,497,736 L182P possibly damaging Het
Stpg2 A G 3: 139,419,874 probably benign Het
Taar2 A G 10: 23,941,099 Y179C probably damaging Het
Tenm2 G A 11: 36,027,405 R1843* probably null Het
Tuba4a C A 1: 75,217,277 C46F probably damaging Het
Ubr1 A G 2: 120,873,122 probably null Het
Vldlr A T 19: 27,239,681 I45L possibly damaging Het
Vmn2r120 C A 17: 57,545,232 G28V probably benign Het
Vmn2r37 C A 7: 9,206,681 V611L probably benign Het
Vmn2r67 A G 7: 85,136,919 L626P probably damaging Het
Wdr19 C T 5: 65,221,739 probably benign Het
Zfp595 T A 13: 67,316,685 K505* probably null Het
Other mutations in Tmco4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00741:Tmco4 APN 4 138996574 critical splice donor site probably null
IGL02552:Tmco4 APN 4 139058379 missense probably benign 0.00
IGL02644:Tmco4 APN 4 139010609 splice site probably benign
IGL02676:Tmco4 APN 4 139023069 critical splice donor site probably null
IGL02741:Tmco4 APN 4 139029877 missense probably damaging 1.00
R0116:Tmco4 UTSW 4 139053920 missense probably damaging 1.00
R0611:Tmco4 UTSW 4 139020072 missense probably damaging 1.00
R4034:Tmco4 UTSW 4 139020861 missense probably damaging 1.00
R4612:Tmco4 UTSW 4 138990560 missense probably benign
R4785:Tmco4 UTSW 4 138998039 missense probably damaging 0.97
R4981:Tmco4 UTSW 4 138990701 missense possibly damaging 0.63
R5040:Tmco4 UTSW 4 139020166 missense probably damaging 1.00
R5052:Tmco4 UTSW 4 139058506 missense probably benign
R5074:Tmco4 UTSW 4 139058122 missense probably damaging 0.98
R5364:Tmco4 UTSW 4 139052504 missense probably damaging 0.99
R5445:Tmco4 UTSW 4 139020867 missense probably damaging 1.00
R5598:Tmco4 UTSW 4 139053905 missense probably damaging 1.00
R6959:Tmco4 UTSW 4 139010499 missense probably damaging 0.99
R7539:Tmco4 UTSW 4 139021699 missense probably benign 0.33
Posted On2013-10-07