Incidental Mutation 'IGL01729:Tmem132e'
ID 105405
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem132e
Ensembl Gene ENSMUSG00000020701
Gene Name transmembrane protein 132E
Synonyms LOC270893
Accession Numbers
Essential gene? Possibly essential (E-score: 0.517) question?
Stock # IGL01729
Quality Score
Status
Chromosome 11
Chromosomal Location 82279726-82337158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82325942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 314 (L314P)
Ref Sequence ENSEMBL: ENSMUSP00000052484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054245] [ENSMUST00000092852]
AlphaFold Q6IEE6
Predicted Effect possibly damaging
Transcript: ENSMUST00000054245
AA Change: L314P

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052484
Gene: ENSMUSG00000020701
AA Change: L314P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:TMEM132D_N 45 176 1.1e-52 PFAM
low complexity region 202 216 N/A INTRINSIC
low complexity region 241 262 N/A INTRINSIC
low complexity region 318 328 N/A INTRINSIC
Pfam:TMEM132 451 797 1.7e-136 PFAM
low complexity region 827 837 N/A INTRINSIC
low complexity region 841 854 N/A INTRINSIC
Pfam:TMEM132D_C 867 944 2e-34 PFAM
low complexity region 967 998 N/A INTRINSIC
low complexity region 1016 1027 N/A INTRINSIC
low complexity region 1036 1043 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000092852
AA Change: L222P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000090528
Gene: ENSMUSG00000020701
AA Change: L222P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 226 236 N/A INTRINSIC
low complexity region 471 489 N/A INTRINSIC
low complexity region 735 745 N/A INTRINSIC
low complexity region 749 762 N/A INTRINSIC
transmembrane domain 798 820 N/A INTRINSIC
low complexity region 875 906 N/A INTRINSIC
low complexity region 924 935 N/A INTRINSIC
low complexity region 944 951 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202598
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A G 15: 83,112,526 (GRCm39) F86L probably damaging Het
Acer3 A G 7: 97,866,072 (GRCm39) V217A probably benign Het
Adcy10 T C 1: 165,340,737 (GRCm39) probably null Het
Adcy8 C T 15: 64,678,511 (GRCm39) V481I probably damaging Het
Ano3 C T 2: 110,611,739 (GRCm39) probably null Het
Arhgap23 C T 11: 97,344,787 (GRCm39) T583I probably damaging Het
Atp2a1 A G 7: 126,057,106 (GRCm39) L173P probably damaging Het
Clgn T C 8: 84,124,279 (GRCm39) W74R probably damaging Het
Clstn3 T C 6: 124,426,753 (GRCm39) S523G probably benign Het
Dnah10 A C 5: 124,864,529 (GRCm39) K2245Q probably benign Het
Dsg1b G T 18: 20,538,295 (GRCm39) V634L possibly damaging Het
Dzip3 A T 16: 48,748,726 (GRCm39) V864E possibly damaging Het
Ear2 A T 14: 44,340,701 (GRCm39) R120* probably null Het
Fam171b T C 2: 83,685,881 (GRCm39) probably benign Het
Fam186b G A 15: 99,178,132 (GRCm39) S398L probably benign Het
Gabrp T C 11: 33,502,689 (GRCm39) K392E probably damaging Het
Gm10355 G A 3: 101,213,999 (GRCm39) noncoding transcript Het
Gm3424 T C 14: 17,337,188 (GRCm39) Y90C probably damaging Het
Gm8165 A G 14: 43,910,186 (GRCm39) V212A unknown Het
Grm7 G A 6: 111,223,145 (GRCm39) R395Q probably benign Het
Il1r1 T A 1: 40,333,986 (GRCm39) N185K probably damaging Het
Jam3 A G 9: 27,016,821 (GRCm39) F80L probably damaging Het
Map1s T C 8: 71,365,712 (GRCm39) Y206H probably damaging Het
Mroh7 A G 4: 106,561,402 (GRCm39) Y614H possibly damaging Het
Ntmt2 T A 1: 163,552,572 (GRCm39) D18V probably damaging Het
Pate2 T C 9: 35,581,888 (GRCm39) Y61H probably damaging Het
Prox1 T A 1: 189,893,372 (GRCm39) T358S probably benign Het
Prpf6 T A 2: 181,296,710 (GRCm39) D876E probably damaging Het
Rpf1 G A 3: 146,212,904 (GRCm39) R311C probably damaging Het
Rpusd2 T A 2: 118,865,837 (GRCm39) V178D probably damaging Het
Stx2 A G 5: 129,068,042 (GRCm39) F222L probably benign Het
Themis T A 10: 28,637,587 (GRCm39) Y230* probably null Het
Tmtc3 T C 10: 100,283,017 (GRCm39) E846G probably benign Het
Trem1 T C 17: 48,551,603 (GRCm39) V88A possibly damaging Het
Trim21 G A 7: 102,213,100 (GRCm39) A66V probably damaging Het
Trip4 A C 9: 65,782,174 (GRCm39) V186G probably benign Het
Vps9d1 T C 8: 123,973,739 (GRCm39) E348G probably damaging Het
Xrn2 T C 2: 146,878,717 (GRCm39) probably null Het
Zfp36 A G 7: 28,077,888 (GRCm39) S7P probably damaging Het
Other mutations in Tmem132e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Tmem132e APN 11 82,329,200 (GRCm39) missense probably damaging 1.00
IGL01586:Tmem132e APN 11 82,325,495 (GRCm39) missense probably damaging 1.00
IGL02592:Tmem132e APN 11 82,325,462 (GRCm39) missense probably damaging 1.00
R0029:Tmem132e UTSW 11 82,335,587 (GRCm39) missense probably damaging 1.00
R0501:Tmem132e UTSW 11 82,325,894 (GRCm39) missense possibly damaging 0.90
R0612:Tmem132e UTSW 11 82,334,198 (GRCm39) missense probably damaging 1.00
R0613:Tmem132e UTSW 11 82,329,164 (GRCm39) missense probably damaging 1.00
R1311:Tmem132e UTSW 11 82,335,122 (GRCm39) missense probably damaging 1.00
R1430:Tmem132e UTSW 11 82,329,122 (GRCm39) missense probably damaging 1.00
R1607:Tmem132e UTSW 11 82,328,196 (GRCm39) missense probably benign 0.39
R1710:Tmem132e UTSW 11 82,334,343 (GRCm39) missense probably damaging 1.00
R1913:Tmem132e UTSW 11 82,334,243 (GRCm39) missense probably damaging 1.00
R1951:Tmem132e UTSW 11 82,335,908 (GRCm39) missense possibly damaging 0.84
R2018:Tmem132e UTSW 11 82,335,989 (GRCm39) missense probably benign 0.26
R2051:Tmem132e UTSW 11 82,331,264 (GRCm39) missense probably damaging 1.00
R2076:Tmem132e UTSW 11 82,325,894 (GRCm39) missense possibly damaging 0.90
R2100:Tmem132e UTSW 11 82,335,357 (GRCm39) missense probably damaging 1.00
R2325:Tmem132e UTSW 11 82,325,341 (GRCm39) missense probably damaging 1.00
R2924:Tmem132e UTSW 11 82,335,149 (GRCm39) missense probably damaging 1.00
R3436:Tmem132e UTSW 11 82,335,156 (GRCm39) missense probably damaging 1.00
R3437:Tmem132e UTSW 11 82,335,156 (GRCm39) missense probably damaging 1.00
R4594:Tmem132e UTSW 11 82,325,894 (GRCm39) missense possibly damaging 0.83
R4704:Tmem132e UTSW 11 82,334,357 (GRCm39) missense probably damaging 0.97
R4754:Tmem132e UTSW 11 82,335,677 (GRCm39) nonsense probably null
R4764:Tmem132e UTSW 11 82,325,338 (GRCm39) missense probably damaging 0.99
R5245:Tmem132e UTSW 11 82,333,464 (GRCm39) missense probably damaging 0.96
R5720:Tmem132e UTSW 11 82,333,276 (GRCm39) splice site probably null
R5793:Tmem132e UTSW 11 82,335,684 (GRCm39) missense probably damaging 1.00
R5984:Tmem132e UTSW 11 82,335,923 (GRCm39) missense probably damaging 1.00
R6980:Tmem132e UTSW 11 82,329,212 (GRCm39) critical splice donor site probably null
R7052:Tmem132e UTSW 11 82,328,189 (GRCm39) missense probably damaging 0.99
R7637:Tmem132e UTSW 11 82,325,342 (GRCm39) missense probably damaging 1.00
R7918:Tmem132e UTSW 11 82,336,116 (GRCm39) missense probably damaging 1.00
R8262:Tmem132e UTSW 11 82,325,666 (GRCm39) missense probably benign 0.33
R8772:Tmem132e UTSW 11 82,325,137 (GRCm39) missense probably damaging 0.99
R9248:Tmem132e UTSW 11 82,335,308 (GRCm39) missense probably damaging 1.00
Z1177:Tmem132e UTSW 11 82,335,930 (GRCm39) missense probably damaging 0.97
Z1177:Tmem132e UTSW 11 82,326,004 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21