Incidental Mutation 'IGL02224:Tmem87b'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem87b
Ensembl Gene ENSMUSG00000014353
Gene Nametransmembrane protein 87B
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02224
Quality Score
Chromosomal Location128818118-128854261 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 128834207 bp
Amino Acid Change Isoleucine to Valine at position 297 (I297V)
Ref Sequence ENSEMBL: ENSMUSP00000119093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110325] [ENSMUST00000152210]
Predicted Effect possibly damaging
Transcript: ENSMUST00000110325
AA Change: I312V

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105954
Gene: ENSMUSG00000014353
AA Change: I312V

signal peptide 1 42 N/A INTRINSIC
Pfam:Lung_7-TM_R 174 459 3.7e-103 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143398
Predicted Effect possibly damaging
Transcript: ENSMUST00000152210
AA Change: I297V

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119093
Gene: ENSMUSG00000014353
AA Change: I297V

signal peptide 1 27 N/A INTRINSIC
Pfam:Lung_7-TM_R 159 452 1.6e-97 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may interact with human papillomavirus type 18 E6 oncogene. The protein is also likely to be involved in endosome-to-trans-Golgi network retrograde transport. The gene is expressed in adult and fetal tissues, including brain and heart. This gene is a component of the 2q13 deletion syndrome. Mutations in this gene may be associated with congenital heart defects. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T A 13: 4,279,290 T23S probably damaging Het
Alpk3 G A 7: 81,076,868 probably benign Het
Atp8b3 A G 10: 80,525,976 probably benign Het
Atr C T 9: 95,878,629 R1051C probably damaging Het
B4galt2 T C 4: 117,876,913 D309G probably benign Het
C130026L21Rik A G 5: 111,582,425 noncoding transcript Het
Cadm3 A G 1: 173,338,061 I344T possibly damaging Het
Cd101 T C 3: 101,017,002 T370A probably benign Het
Col6a5 A T 9: 105,864,335 S2462T probably damaging Het
Csf3r A T 4: 126,043,539 N739Y probably benign Het
Ensa T C 3: 95,628,679 S108P probably benign Het
Fancd2 T A 6: 113,568,320 probably null Het
Fbp1 T A 13: 62,888,007 T13S probably damaging Het
Flrt2 C A 12: 95,780,028 T380K possibly damaging Het
Gpatch11 T C 17: 78,841,093 probably benign Het
Hagh A G 17: 24,852,887 D29G probably damaging Het
Hmmr T C 11: 40,710,004 Q513R unknown Het
Hoxb8 T C 11: 96,283,155 S65P probably benign Het
Il4ra T C 7: 125,570,099 probably benign Het
Lbp A G 2: 158,306,749 N27S probably damaging Het
Msh4 G A 3: 153,890,185 T76I possibly damaging Het
Nfat5 T C 8: 107,344,815 V281A probably benign Het
Olfr1115 C T 2: 87,252,477 S180F probably benign Het
Olfr1140 T A 2: 87,746,413 C72* probably null Het
Olfr1181 C T 2: 88,423,708 probably null Het
Olfr1459 T A 19: 13,145,756 K301M probably damaging Het
Olfr272 A T 4: 52,911,392 V134D probably damaging Het
Phf11b A T 14: 59,326,066 probably benign Het
Pik3c2a A G 7: 116,363,340 probably benign Het
Prdx1 T A 4: 116,691,867 F66L probably damaging Het
Prss39 A G 1: 34,499,378 H108R probably damaging Het
Spta1 C A 1: 174,217,689 probably benign Het
Vmn1r191 T C 13: 22,178,898 R229G probably damaging Het
Vmn2r113 A T 17: 22,955,986 R524* probably null Het
Washc2 T A 6: 116,220,569 D254E possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp773 T C 7: 7,132,976 H207R probably benign Het
Other mutations in Tmem87b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Tmem87b APN 2 128831216 missense probably damaging 1.00
IGL03387:Tmem87b APN 2 128823099 missense probably benign 0.08
PIT4445001:Tmem87b UTSW 2 128831471 missense probably benign 0.02
R0054:Tmem87b UTSW 2 128831441 critical splice acceptor site probably benign
R0054:Tmem87b UTSW 2 128831441 critical splice acceptor site probably benign
R0363:Tmem87b UTSW 2 128831233 missense probably damaging 1.00
R0750:Tmem87b UTSW 2 128818436 missense possibly damaging 0.92
R1496:Tmem87b UTSW 2 128826393 splice site probably null
R1520:Tmem87b UTSW 2 128839256 critical splice donor site probably null
R1766:Tmem87b UTSW 2 128839170 missense probably damaging 0.96
R1908:Tmem87b UTSW 2 128831559 missense probably damaging 1.00
R2041:Tmem87b UTSW 2 128831589 missense probably damaging 1.00
R3840:Tmem87b UTSW 2 128826384 nonsense probably null
R4426:Tmem87b UTSW 2 128846750 missense probably benign 0.00
R5105:Tmem87b UTSW 2 128831589 missense probably damaging 1.00
R5159:Tmem87b UTSW 2 128824458 missense probably benign 0.00
R5471:Tmem87b UTSW 2 128851320 missense possibly damaging 0.58
R6550:Tmem87b UTSW 2 128824465 missense possibly damaging 0.79
R7467:Tmem87b UTSW 2 128849151 splice site probably null
R7664:Tmem87b UTSW 2 128849054 missense possibly damaging 0.89
R7696:Tmem87b UTSW 2 128841317 missense probably damaging 0.96
R7971:Tmem87b UTSW 2 128850330 missense probably null 1.00
Posted On2015-04-16