Incidental Mutation 'IGL02827:Tmem60'
ID 361246
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem60
Ensembl Gene ENSMUSG00000045435
Gene Name transmembrane protein 60
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02827
Quality Score
Status
Chromosome 5
Chromosomal Location 21087451-21091868 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21091622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 129 (F129Y)
Ref Sequence ENSEMBL: ENSMUSP00000110914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115259] [ENSMUST00000118174] [ENSMUST00000156044]
AlphaFold Q8K174
Predicted Effect probably damaging
Transcript: ENSMUST00000115259
AA Change: F129Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110914
Gene: ENSMUSG00000045435
AA Change: F129Y

DomainStartEndE-ValueType
Pfam:Tmemb_185A 25 131 7.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118174
SMART Domains Protein: ENSMUSP00000114087
Gene: ENSMUSG00000039987

DomainStartEndE-ValueType
Pfam:Phtf-FEM1B_bdg 5 154 1.3e-76 PFAM
low complexity region 340 359 N/A INTRINSIC
transmembrane domain 457 479 N/A INTRINSIC
transmembrane domain 511 533 N/A INTRINSIC
transmembrane domain 596 618 N/A INTRINSIC
transmembrane domain 628 647 N/A INTRINSIC
transmembrane domain 715 737 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140147
Predicted Effect probably benign
Transcript: ENSMUST00000156044
SMART Domains Protein: ENSMUSP00000120222
Gene: ENSMUSG00000039987

DomainStartEndE-ValueType
Pfam:Phtf-FEM1B_bdg 3 46 3.6e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196723
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,845,699 (GRCm39) S1554P probably damaging Het
Actn2 A T 13: 12,290,085 (GRCm39) L152Q probably damaging Het
Afg3l2 T C 18: 67,559,015 (GRCm39) I369V probably damaging Het
Aqp6 G A 15: 99,500,892 (GRCm39) G199S probably damaging Het
Asgr2 A G 11: 69,987,723 (GRCm39) I74V probably benign Het
Cebpz T C 17: 79,236,760 (GRCm39) R702G probably damaging Het
Cers1 C T 8: 70,774,177 (GRCm39) P145S probably damaging Het
Ddx21 T C 10: 62,434,153 (GRCm39) K202R probably benign Het
Gphn A T 12: 78,655,994 (GRCm39) D407V probably damaging Het
Hnf1b A G 11: 83,746,752 (GRCm39) K123E probably damaging Het
Ifitm10 T C 7: 141,882,317 (GRCm39) D151G unknown Het
Ifna14 T A 4: 88,489,601 (GRCm39) K145N probably benign Het
Lamc2 C T 1: 153,015,527 (GRCm39) C602Y probably damaging Het
Mrps25 T C 6: 92,152,163 (GRCm39) E119G probably benign Het
Or10ak9 A T 4: 118,726,157 (GRCm39) M60L probably damaging Het
Or1f12 A G 13: 21,721,528 (GRCm39) S216P probably benign Het
Pgm5 C A 19: 24,686,659 (GRCm39) R516L probably benign Het
Pramel31 C T 4: 144,090,331 (GRCm39) A457V probably damaging Het
Rmnd5b A G 11: 51,518,849 (GRCm39) L48P possibly damaging Het
Samd4b G A 7: 28,113,546 (GRCm39) R140C probably damaging Het
Sema3d T C 5: 12,635,085 (GRCm39) I717T probably benign Het
Sh3tc2 G A 18: 62,146,230 (GRCm39) S1203N probably benign Het
Smpdl3a A G 10: 57,678,592 (GRCm39) T132A probably damaging Het
Stard13 T C 5: 150,986,591 (GRCm39) I188M probably benign Het
Stk17b T C 1: 53,815,701 (GRCm39) T33A probably benign Het
Stxbp3 A T 3: 108,717,211 (GRCm39) I264N probably damaging Het
Trpm1 A G 7: 63,868,908 (GRCm39) D404G probably null Het
Unc79 A C 12: 103,041,105 (GRCm39) S713R possibly damaging Het
Uox A C 3: 146,302,951 (GRCm39) probably benign Het
Vmn2r68 T C 7: 84,886,800 (GRCm39) D38G probably damaging Het
Vps13a T C 19: 16,618,998 (GRCm39) D2856G possibly damaging Het
Vsig10l T C 7: 43,114,293 (GRCm39) L205P probably damaging Het
Other mutations in Tmem60
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4677001:Tmem60 UTSW 5 21,091,366 (GRCm39) missense probably benign 0.03
R0349:Tmem60 UTSW 5 21,091,628 (GRCm39) missense probably benign
R7234:Tmem60 UTSW 5 21,091,619 (GRCm39) missense possibly damaging 0.91
Posted On 2015-12-18