Incidental Mutation 'IGL02430:Tmem62'
ID 293091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem62
Ensembl Gene ENSMUSG00000054484
Gene Name transmembrane protein 62
Synonyms B830009D23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL02430
Quality Score
Status
Chromosome 2
Chromosomal Location 120807498-120838333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120817143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 233 (T233I)
Ref Sequence ENSEMBL: ENSMUSP00000064310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067582] [ENSMUST00000110686] [ENSMUST00000139428]
AlphaFold Q8BXJ9
Predicted Effect probably damaging
Transcript: ENSMUST00000067582
AA Change: T233I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064310
Gene: ENSMUSG00000054484
AA Change: T233I

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Metallophos 56 261 7.3e-11 PFAM
transmembrane domain 430 452 N/A INTRINSIC
transmembrane domain 479 501 N/A INTRINSIC
transmembrane domain 530 552 N/A INTRINSIC
transmembrane domain 573 595 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110686
AA Change: T103I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106314
Gene: ENSMUSG00000054484
AA Change: T103I

DomainStartEndE-ValueType
transmembrane domain 300 322 N/A INTRINSIC
transmembrane domain 349 371 N/A INTRINSIC
transmembrane domain 400 422 N/A INTRINSIC
transmembrane domain 443 465 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130010
Predicted Effect probably damaging
Transcript: ENSMUST00000139428
AA Change: T233I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118808
Gene: ENSMUSG00000054484
AA Change: T233I

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
SCOP:d1utea_ 59 274 9e-9 SMART
low complexity region 308 327 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147347
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,222,185 (GRCm39) E1249G probably benign Het
C8a G A 4: 104,674,719 (GRCm39) T540I probably damaging Het
Clcnkb C A 4: 141,136,701 (GRCm39) W388L possibly damaging Het
Cnbp A T 6: 87,822,160 (GRCm39) Y114* probably null Het
Col13a1 A G 10: 61,710,530 (GRCm39) V337A probably benign Het
Cyp2e1 A G 7: 140,350,139 (GRCm39) K275E probably damaging Het
Dchs1 A G 7: 105,421,178 (GRCm39) V414A probably benign Het
Ebf1 G A 11: 44,815,403 (GRCm39) probably null Het
Gabbr1 C T 17: 37,367,200 (GRCm39) R198* probably null Het
Gpaa1 T C 15: 76,216,388 (GRCm39) S36P possibly damaging Het
Hipk1 A G 3: 103,667,971 (GRCm39) V532A probably damaging Het
Klhl18 A T 9: 110,266,469 (GRCm39) C217S probably benign Het
Lmntd1 T A 6: 145,359,140 (GRCm39) T191S probably benign Het
Ltbp2 T A 12: 84,846,175 (GRCm39) Y925F probably damaging Het
Lvrn A G 18: 47,027,797 (GRCm39) I871V probably benign Het
Mrgprb1 A G 7: 48,097,409 (GRCm39) S168P possibly damaging Het
Or11g24 A G 14: 50,662,608 (GRCm39) I211V probably benign Het
Or5p70 A T 7: 107,994,929 (GRCm39) I201F probably benign Het
Pcnx1 T A 12: 81,966,096 (GRCm39) N754K possibly damaging Het
Plaa A T 4: 94,470,810 (GRCm39) M442K probably benign Het
Pole3 T C 4: 62,443,056 (GRCm39) N28S possibly damaging Het
Pramel18 A G 4: 101,767,477 (GRCm39) Y242C probably benign Het
Prlr A G 15: 10,325,477 (GRCm39) K4E probably damaging Het
Rp1l1 A T 14: 64,266,735 (GRCm39) T774S probably benign Het
Selp C A 1: 163,953,952 (GRCm39) P84Q probably damaging Het
Sh3bp4 T A 1: 89,080,885 (GRCm39) W901R probably null Het
Slc6a20b A G 9: 123,426,305 (GRCm39) Y527H probably damaging Het
Slit3 T A 11: 35,068,601 (GRCm39) probably null Het
Spidr C T 16: 15,932,774 (GRCm39) D169N probably damaging Het
Sstr2 T C 11: 113,515,630 (GRCm39) L183P probably damaging Het
Uba7 A G 9: 107,856,667 (GRCm39) probably benign Het
Ubc A T 5: 125,464,634 (GRCm39) I231N probably damaging Het
Ubl3 A T 5: 148,488,766 (GRCm39) D8E probably benign Het
Unc5a A G 13: 55,150,295 (GRCm39) I465M probably damaging Het
Vmn2r106 A G 17: 20,499,158 (GRCm39) I251T probably benign Het
Vwa8 T C 14: 79,172,085 (GRCm39) probably null Het
Washc5 A G 15: 59,238,140 (GRCm39) Y195H probably damaging Het
Wdr27 A C 17: 15,122,062 (GRCm39) S615A probably damaging Het
Zfp160 T A 17: 21,245,792 (GRCm39) L114H possibly damaging Het
Zfp523 T C 17: 28,414,113 (GRCm39) probably benign Het
Other mutations in Tmem62
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Tmem62 APN 2 120,837,445 (GRCm39) splice site probably null
IGL01011:Tmem62 APN 2 120,809,700 (GRCm39) missense possibly damaging 0.48
IGL02125:Tmem62 APN 2 120,826,993 (GRCm39) missense probably benign 0.01
R0031:Tmem62 UTSW 2 120,829,594 (GRCm39) missense probably benign 0.00
R0535:Tmem62 UTSW 2 120,833,077 (GRCm39) missense possibly damaging 0.88
R1597:Tmem62 UTSW 2 120,814,843 (GRCm39) missense probably benign 0.01
R1656:Tmem62 UTSW 2 120,837,483 (GRCm39) missense probably benign 0.36
R1682:Tmem62 UTSW 2 120,837,538 (GRCm39) missense probably benign 0.32
R1702:Tmem62 UTSW 2 120,809,708 (GRCm39) missense probably damaging 1.00
R1755:Tmem62 UTSW 2 120,814,958 (GRCm39) critical splice donor site probably null
R1886:Tmem62 UTSW 2 120,817,151 (GRCm39) missense probably damaging 0.99
R1943:Tmem62 UTSW 2 120,817,107 (GRCm39) missense probably benign 0.10
R2151:Tmem62 UTSW 2 120,817,343 (GRCm39) missense probably damaging 1.00
R2419:Tmem62 UTSW 2 120,837,586 (GRCm39) missense probably damaging 0.98
R3034:Tmem62 UTSW 2 120,809,605 (GRCm39) splice site probably benign
R3782:Tmem62 UTSW 2 120,807,948 (GRCm39) missense probably damaging 1.00
R4326:Tmem62 UTSW 2 120,810,991 (GRCm39) missense probably damaging 1.00
R4328:Tmem62 UTSW 2 120,810,991 (GRCm39) missense probably damaging 1.00
R4620:Tmem62 UTSW 2 120,826,845 (GRCm39) intron probably benign
R5168:Tmem62 UTSW 2 120,824,088 (GRCm39) missense probably benign 0.16
R5625:Tmem62 UTSW 2 120,820,874 (GRCm39) missense probably damaging 1.00
R6057:Tmem62 UTSW 2 120,807,943 (GRCm39) missense probably damaging 0.98
R6386:Tmem62 UTSW 2 120,829,595 (GRCm39) missense probably benign 0.00
R7038:Tmem62 UTSW 2 120,824,058 (GRCm39) missense possibly damaging 0.87
R7182:Tmem62 UTSW 2 120,835,224 (GRCm39) missense probably benign 0.08
R7569:Tmem62 UTSW 2 120,837,411 (GRCm39) missense probably benign
R7607:Tmem62 UTSW 2 120,826,921 (GRCm39) missense probably benign 0.00
R7849:Tmem62 UTSW 2 120,814,853 (GRCm39) missense probably benign 0.01
R8353:Tmem62 UTSW 2 120,814,817 (GRCm39) missense probably damaging 0.99
R8531:Tmem62 UTSW 2 120,837,533 (GRCm39) missense probably damaging 0.99
R8944:Tmem62 UTSW 2 120,817,316 (GRCm39) critical splice acceptor site probably null
R9218:Tmem62 UTSW 2 120,835,224 (GRCm39) missense probably benign 0.08
R9448:Tmem62 UTSW 2 120,808,211 (GRCm39) missense probably damaging 1.00
R9597:Tmem62 UTSW 2 120,829,567 (GRCm39) missense probably benign 0.23
X0052:Tmem62 UTSW 2 120,824,009 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16