Incidental Mutation 'IGL01346:Tmco4'
ID 75061
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmco4
Ensembl Gene ENSMUSG00000041143
Gene Name transmembrane and coiled-coil domains 4
Synonyms 4632413C14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL01346
Quality Score
Status
Chromosome 4
Chromosomal Location 138700199-138786482 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 138748260 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q91WU4
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: 150,152,980 (GRCm39) V135A unknown Het
Cnot4 A T 6: 35,047,183 (GRCm39) I143N probably damaging Het
Cnot6l A T 5: 96,234,105 (GRCm39) M302K probably damaging Het
Dmxl2 T C 9: 54,322,759 (GRCm39) T1542A probably damaging Het
Dnaaf9 A G 2: 130,633,766 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,116 (GRCm39) S3893P probably benign Het
Duox2 A T 2: 122,117,683 (GRCm39) probably benign Het
Dusp1 T C 17: 26,725,295 (GRCm39) N355D probably benign Het
Fam76b T C 9: 13,741,046 (GRCm39) C60R probably damaging Het
Gnptab G A 10: 88,272,041 (GRCm39) V944I possibly damaging Het
Gys1 A G 7: 45,091,961 (GRCm39) Y249C probably damaging Het
Ift88 A T 14: 57,681,862 (GRCm39) E215D probably damaging Het
Kcnu1 T C 8: 26,424,551 (GRCm39) probably benign Het
Lmln C A 16: 32,937,490 (GRCm39) N618K probably benign Het
Lrrc75a T C 11: 62,496,813 (GRCm39) T250A probably damaging Het
Mpp4 A G 1: 59,164,719 (GRCm39) S435P probably damaging Het
Myo1c T A 11: 75,563,076 (GRCm39) V1036E probably damaging Het
Nlrp12 T G 7: 3,289,316 (GRCm39) T399P probably damaging Het
Or2y16 A G 11: 49,335,595 (GRCm39) R306G probably benign Het
Or4c118 A G 2: 88,974,575 (GRCm39) F264S possibly damaging Het
Parp8 A T 13: 117,031,600 (GRCm39) C332S possibly damaging Het
Pdcd11 G A 19: 47,098,053 (GRCm39) V780I probably benign Het
Plekha5 A G 6: 140,480,292 (GRCm39) probably benign Het
Ppt1 T A 4: 122,737,848 (GRCm39) I62K probably damaging Het
Proser3 T C 7: 30,249,071 (GRCm39) N7S probably benign Het
Ptk2b A G 14: 66,414,567 (GRCm39) L311P possibly damaging Het
Rasal2 T C 1: 156,988,786 (GRCm39) N706S probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Smurf2 T A 11: 106,721,741 (GRCm39) probably benign Het
Snx32 A G 19: 5,547,764 (GRCm39) L182P possibly damaging Het
Stpg2 A G 3: 139,125,635 (GRCm39) probably benign Het
Taar2 A G 10: 23,816,997 (GRCm39) Y179C probably damaging Het
Tenm2 G A 11: 35,918,232 (GRCm39) R1843* probably null Het
Tuba4a C A 1: 75,193,921 (GRCm39) C46F probably damaging Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Vldlr A T 19: 27,217,081 (GRCm39) I45L possibly damaging Het
Vmn2r120 C A 17: 57,852,232 (GRCm39) G28V probably benign Het
Vmn2r37 C A 7: 9,209,680 (GRCm39) V611L probably benign Het
Vmn2r67 A G 7: 84,786,127 (GRCm39) L626P probably damaging Het
Wdr19 C T 5: 65,379,082 (GRCm39) probably benign Het
Zfp595 T A 13: 67,464,749 (GRCm39) K505* probably null Het
Other mutations in Tmco4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00741:Tmco4 APN 4 138,723,885 (GRCm39) critical splice donor site probably null
IGL02552:Tmco4 APN 4 138,785,690 (GRCm39) missense probably benign 0.00
IGL02644:Tmco4 APN 4 138,737,920 (GRCm39) splice site probably benign
IGL02676:Tmco4 APN 4 138,750,380 (GRCm39) critical splice donor site probably null
IGL02741:Tmco4 APN 4 138,757,188 (GRCm39) missense probably damaging 1.00
R0116:Tmco4 UTSW 4 138,781,231 (GRCm39) missense probably damaging 1.00
R0611:Tmco4 UTSW 4 138,747,383 (GRCm39) missense probably damaging 1.00
R4034:Tmco4 UTSW 4 138,748,172 (GRCm39) missense probably damaging 1.00
R4612:Tmco4 UTSW 4 138,717,871 (GRCm39) missense probably benign
R4785:Tmco4 UTSW 4 138,725,350 (GRCm39) missense probably damaging 0.97
R4981:Tmco4 UTSW 4 138,718,012 (GRCm39) missense possibly damaging 0.63
R5040:Tmco4 UTSW 4 138,747,477 (GRCm39) missense probably damaging 1.00
R5052:Tmco4 UTSW 4 138,785,817 (GRCm39) missense probably benign
R5074:Tmco4 UTSW 4 138,785,433 (GRCm39) missense probably damaging 0.98
R5364:Tmco4 UTSW 4 138,779,815 (GRCm39) missense probably damaging 0.99
R5445:Tmco4 UTSW 4 138,748,178 (GRCm39) missense probably damaging 1.00
R5598:Tmco4 UTSW 4 138,781,216 (GRCm39) missense probably damaging 1.00
R6959:Tmco4 UTSW 4 138,737,810 (GRCm39) missense probably damaging 0.99
R7539:Tmco4 UTSW 4 138,749,010 (GRCm39) missense probably benign 0.33
R7662:Tmco4 UTSW 4 138,737,872 (GRCm39) missense probably benign 0.00
R7981:Tmco4 UTSW 4 138,785,772 (GRCm39) missense probably damaging 1.00
R7996:Tmco4 UTSW 4 138,748,172 (GRCm39) missense probably damaging 1.00
R8543:Tmco4 UTSW 4 138,781,251 (GRCm39) missense probably benign 0.01
R9460:Tmco4 UTSW 4 138,747,387 (GRCm39) missense probably damaging 1.00
R9551:Tmco4 UTSW 4 138,779,895 (GRCm39) missense probably damaging 1.00
R9552:Tmco4 UTSW 4 138,779,895 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07