Incidental Mutation 'R1160:Tmem132a'
ID100375
Institutional Source Beutler Lab
Gene Symbol Tmem132a
Ensembl Gene ENSMUSG00000024736
Gene Nametransmembrane protein 132A
SynonymsHspa5bp1, 6720481D13Rik
MMRRC Submission 039233-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1160 (G1)
Quality Score191
Status Not validated
Chromosome19
Chromosomal Location10857822-10869940 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 10858574 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 864 (V864A)
Ref Sequence ENSEMBL: ENSMUSP00000025645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025645] [ENSMUST00000025646] [ENSMUST00000120524]
Predicted Effect probably damaging
Transcript: ENSMUST00000025645
AA Change: V864A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736
AA Change: V864A

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:TMEM132D_N 44 167 1.6e-35 PFAM
low complexity region 206 223 N/A INTRINSIC
Pfam:TMEM132 403 745 4.1e-108 PFAM
low complexity region 759 776 N/A INTRINSIC
Pfam:TMEM132D_C 809 897 1.5e-31 PFAM
low complexity region 906 923 N/A INTRINSIC
low complexity region 932 944 N/A INTRINSIC
low complexity region 960 976 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000025646
SMART Domains Protein: ENSMUSP00000025646
Gene: ENSMUSG00000024737

DomainStartEndE-ValueType
low complexity region 21 37 N/A INTRINSIC
Pfam:MFS_1 38 508 3.4e-10 PFAM
Pfam:PTR2 101 519 3.2e-79 PFAM
transmembrane domain 538 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120524
SMART Domains Protein: ENSMUSP00000113696
Gene: ENSMUSG00000024736

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
low complexity region 206 223 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138263
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.7%
  • 20x: 81.6%
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 is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810403A07Rik C A 3: 88,708,862 P452Q probably damaging Het
Agap1 G T 1: 89,843,154 K622N probably damaging Het
Ap3b2 A T 7: 81,466,169 probably null Het
Arl5b T C 2: 15,069,837 V43A probably benign Het
Astn1 T C 1: 158,600,365 V702A possibly damaging Het
Bach1 T C 16: 87,715,434 V15A probably benign Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Ccar2 C T 14: 70,139,769 V774M probably benign Het
Dcaf5 T C 12: 80,340,215 D379G possibly damaging Het
Dcpp1 T A 17: 23,881,431 I45K possibly damaging Het
Ddx17 T A 15: 79,541,087 S128C probably damaging Het
Eml3 A G 19: 8,933,250 N192S probably benign Het
Epha3 T G 16: 63,773,068 D219A probably damaging Het
Fhod3 C T 18: 24,985,236 A210V probably damaging Het
Klhl5 A G 5: 65,141,340 N154S probably benign Het
Lrif1 A G 3: 106,732,717 N373D possibly damaging Het
Map3k20 A G 2: 72,441,520 N664S probably benign Het
Olfr625-ps1 A G 7: 103,682,861 N38D possibly damaging Het
Parp14 G A 16: 35,856,760 A946V probably benign Het
Pdia3 G A 2: 121,432,377 G275S probably damaging Het
Pglyrp4 T A 3: 90,728,831 probably null Het
Pole A G 5: 110,295,253 E349G possibly damaging Het
Ptprj A G 2: 90,444,524 Y1165H probably damaging Het
Rasd1 T A 11: 59,964,721 I29F possibly damaging Het
Scamp3 T C 3: 89,181,198 F237S probably damaging Het
Sccpdh T G 1: 179,684,210 D82E probably benign Het
Slc19a3 A C 1: 83,022,692 H201Q possibly damaging Het
Slc5a4a G A 10: 76,178,161 A401T possibly damaging Het
Snupn T G 9: 56,957,105 C29W probably benign Het
Sorbs2 A G 8: 45,770,576 Y222C probably damaging Het
Sox17 A T 1: 4,491,852 V310E probably damaging Het
Srgap1 T A 10: 121,855,477 Y284F probably benign Het
Srpk1 C A 17: 28,599,774 V363F probably benign Het
Syt13 T A 2: 92,943,042 probably null Het
Taf2 A G 15: 55,071,397 V45A probably benign Het
Tal1 A T 4: 115,068,616 D294V probably damaging Het
Tbl2 A G 5: 135,159,392 T347A probably benign Het
Tet3 A G 6: 83,404,452 S110P probably benign Het
Trak1 T C 9: 121,392,007 I80T probably benign Het
Trappc6b G A 12: 59,050,278 T86I probably damaging Het
Usf3 T A 16: 44,218,547 I1130N probably damaging Het
Xirp2 T C 2: 67,509,887 V824A possibly damaging Het
Zfp810 T C 9: 22,278,532 Y360C possibly damaging Het
Zmiz1 T A 14: 25,654,512 V685E probably damaging Het
Zp2 A T 7: 120,136,045 D368E probably damaging Het
Other mutations in Tmem132a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01401:Tmem132a APN 19 10861524 splice site probably benign
IGL02508:Tmem132a APN 19 10858518 missense probably damaging 1.00
R0514:Tmem132a UTSW 19 10858991 missense probably damaging 0.99
R0918:Tmem132a UTSW 19 10858113 missense probably damaging 1.00
R1205:Tmem132a UTSW 19 10859084 missense probably benign 0.03
R1619:Tmem132a UTSW 19 10861698 missense probably damaging 1.00
R1777:Tmem132a UTSW 19 10858506 missense probably damaging 1.00
R1815:Tmem132a UTSW 19 10861567 nonsense probably null
R1869:Tmem132a UTSW 19 10858688 missense possibly damaging 0.48
R1888:Tmem132a UTSW 19 10863499 missense probably damaging 1.00
R1888:Tmem132a UTSW 19 10863499 missense probably damaging 1.00
R2133:Tmem132a UTSW 19 10864066 missense probably benign 0.26
R2441:Tmem132a UTSW 19 10860137 missense probably damaging 0.96
R2570:Tmem132a UTSW 19 10859742 missense probably null 1.00
R3157:Tmem132a UTSW 19 10859537 nonsense probably null
R3159:Tmem132a UTSW 19 10859537 nonsense probably null
R4152:Tmem132a UTSW 19 10859063 missense probably benign 0.04
R4281:Tmem132a UTSW 19 10861726 missense possibly damaging 0.81
R4547:Tmem132a UTSW 19 10860200 missense possibly damaging 0.83
R4793:Tmem132a UTSW 19 10865493 missense probably damaging 1.00
R4947:Tmem132a UTSW 19 10866934 missense possibly damaging 0.90
R4998:Tmem132a UTSW 19 10858941 missense probably benign 0.02
R5226:Tmem132a UTSW 19 10867144 missense possibly damaging 0.50
R5323:Tmem132a UTSW 19 10864007 missense possibly damaging 0.81
R6659:Tmem132a UTSW 19 10860321 missense probably damaging 0.99
R6814:Tmem132a UTSW 19 10863305 missense probably damaging 1.00
R6872:Tmem132a UTSW 19 10863305 missense probably damaging 1.00
R7205:Tmem132a UTSW 19 10866931 missense probably damaging 1.00
R7383:Tmem132a UTSW 19 10866994 missense probably benign 0.01
R7505:Tmem132a UTSW 19 10858673 missense probably damaging 1.00
R7513:Tmem132a UTSW 19 10860128 missense probably damaging 0.98
R7595:Tmem132a UTSW 19 10858205 missense probably damaging 1.00
Z1088:Tmem132a UTSW 19 10858935 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15