Incidental Mutation 'IGL02542:Tmem132b'
ID297717
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem132b
Ensembl Gene ENSMUSG00000070498
Gene Nametransmembrane protein 132B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL02542
Quality Score
Status
Chromosome5
Chromosomal Location125531774-125792583 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 125622494 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Proline at position 73 (Q73P)
Ref Sequence ENSEMBL: ENSMUSP00000139013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031446] [ENSMUST00000185104]
Predicted Effect probably damaging
Transcript: ENSMUST00000031446
AA Change: Q32P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031446
Gene: ENSMUSG00000070498
AA Change: Q32P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:TMEM132D_N 44 173 2.9e-53 PFAM
Pfam:TMEM132 432 774 5.9e-145 PFAM
Pfam:TMEM132D_C 870 953 1.3e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184422
Predicted Effect probably damaging
Transcript: ENSMUST00000185104
AA Change: Q73P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsa2 T A 11: 23,490,559 T231S possibly damaging Het
Arfgef1 A G 1: 10,172,842 L1091P probably benign Het
Arhgap32 A T 9: 32,255,648 K527M probably damaging Het
Caap1 T C 4: 94,550,505 N149S probably benign Het
Cc2d2a A G 5: 43,688,910 probably benign Het
Cdk13 A T 13: 17,728,178 I929K probably damaging Het
Fan1 A G 7: 64,364,660 Y608H probably damaging Het
Foxj3 A G 4: 119,620,343 N416S unknown Het
Gm20547 T C 17: 34,857,260 S1151G possibly damaging Het
Ighv1-80 A T 12: 115,912,579 I39N probably damaging Het
Igkv11-125 A C 6: 67,914,007 E102A probably damaging Het
Mdc1 C A 17: 35,853,156 P1199T probably damaging Het
Negr1 T C 3: 156,562,225 S11P probably damaging Het
Oxsr1 T C 9: 119,242,735 R477G possibly damaging Het
Pappa T A 4: 65,176,281 F514L probably damaging Het
Pde6c G T 19: 38,178,130 D707Y probably damaging Het
Phtf1 T C 3: 103,993,906 probably benign Het
Piezo2 T A 18: 63,032,924 I2079F probably damaging Het
Ptprm T C 17: 66,920,150 D668G probably benign Het
Ptprq T C 10: 107,662,555 Y887C probably damaging Het
Rax T C 18: 65,938,630 E62G possibly damaging Het
Rnf25 T C 1: 74,594,101 E364G probably benign Het
Sipa1l3 A T 7: 29,388,065 D578E probably damaging Het
Slc14a2 T G 18: 78,209,087 D3A probably benign Het
Slc28a3 A G 13: 58,573,470 Y294H probably damaging Het
Slit1 T C 19: 41,627,248 T811A probably damaging Het
Sorcs2 T C 5: 36,025,942 T996A probably damaging Het
Tnrc6b T A 15: 80,902,352 I1275N possibly damaging Het
Vasp A T 7: 19,264,780 D17E probably damaging Het
Wdr19 A G 5: 65,231,071 T700A probably benign Het
Ythdc2 T G 18: 44,840,241 L315W probably damaging Het
Zfp385c A G 11: 100,629,916 V306A probably damaging Het
Other mutations in Tmem132b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:Tmem132b APN 5 125698728 missense probably benign
IGL01518:Tmem132b APN 5 125778791 missense probably damaging 1.00
IGL02652:Tmem132b APN 5 125787575 missense probably damaging 1.00
IGL02671:Tmem132b APN 5 125778727 missense probably damaging 0.97
IGL02951:Tmem132b APN 5 125787547 missense probably damaging 0.99
R0456:Tmem132b UTSW 5 125787724 missense probably damaging 0.99
R0462:Tmem132b UTSW 5 125785926 missense probably damaging 1.00
R0724:Tmem132b UTSW 5 125783421 missense possibly damaging 0.95
R1137:Tmem132b UTSW 5 125783542 missense possibly damaging 0.94
R1168:Tmem132b UTSW 5 125787019 missense probably damaging 0.99
R1418:Tmem132b UTSW 5 125638249 missense probably benign 0.01
R1689:Tmem132b UTSW 5 125787614 missense possibly damaging 0.95
R1744:Tmem132b UTSW 5 125778844 critical splice donor site probably null
R1835:Tmem132b UTSW 5 125785899 missense probably damaging 1.00
R2016:Tmem132b UTSW 5 125623016 missense probably benign
R2033:Tmem132b UTSW 5 125749289 missense probably damaging 0.98
R2097:Tmem132b UTSW 5 125638208 missense probably damaging 0.99
R2114:Tmem132b UTSW 5 125622551 missense probably damaging 1.00
R2116:Tmem132b UTSW 5 125622551 missense probably damaging 1.00
R2117:Tmem132b UTSW 5 125622551 missense probably damaging 1.00
R2870:Tmem132b UTSW 5 125638268 missense probably benign
R2870:Tmem132b UTSW 5 125638268 missense probably benign
R3807:Tmem132b UTSW 5 125787580 missense probably damaging 1.00
R4825:Tmem132b UTSW 5 125783433 missense probably benign
R5149:Tmem132b UTSW 5 125622925 missense probably damaging 0.99
R5484:Tmem132b UTSW 5 125787733 missense probably damaging 1.00
R5623:Tmem132b UTSW 5 125623352 missense probably damaging 0.99
R5624:Tmem132b UTSW 5 125622646 missense probably benign 0.04
R5775:Tmem132b UTSW 5 125638330 critical splice donor site probably null
R7012:Tmem132b UTSW 5 125698590 missense probably damaging 1.00
R7142:Tmem132b UTSW 5 125622673 missense probably damaging 1.00
R7308:Tmem132b UTSW 5 125787646 missense possibly damaging 0.88
R7414:Tmem132b UTSW 5 125787491 missense probably damaging 1.00
R7452:Tmem132b UTSW 5 125638268 missense probably benign
R7650:Tmem132b UTSW 5 125787010 missense probably benign 0.04
Z1176:Tmem132b UTSW 5 125787886 missense not run
Posted On2015-04-16