Incidental Mutation 'IGL01759:Tmem219'
ID153514
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem219
Ensembl Gene ENSMUSG00000060538
Gene Nametransmembrane protein 219
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL01759
Quality Score
Status
Chromosome7
Chromosomal Location126886171-126922917 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 126897138 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 44 (P44L)
Ref Sequence ENSEMBL: ENSMUSP00000116806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032926] [ENSMUST00000119781] [ENSMUST00000120007] [ENSMUST00000121532] [ENSMUST00000121612] [ENSMUST00000134134]
Predicted Effect probably damaging
Transcript: ENSMUST00000032926
AA Change: P18L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032926
Gene: ENSMUSG00000060538
AA Change: P18L

DomainStartEndE-ValueType
Pfam:TMEM219 10 193 4.8e-51 PFAM
transmembrane domain 205 227 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119781
AA Change: P43L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114040
Gene: ENSMUSG00000060538
AA Change: P43L

DomainStartEndE-ValueType
Pfam:TMEM219 35 218 6.5e-51 PFAM
transmembrane domain 230 252 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120007
AA Change: P50L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113647
Gene: ENSMUSG00000060538
AA Change: P50L

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
Pfam:TMEM219 42 119 1.1e-12 PFAM
Pfam:TMEM219 116 216 1.6e-9 PFAM
low complexity region 217 232 N/A INTRINSIC
transmembrane domain 237 259 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121532
AA Change: P18L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112485
Gene: ENSMUSG00000060538
AA Change: P18L

DomainStartEndE-ValueType
Pfam:TMEM219 10 193 4.8e-51 PFAM
transmembrane domain 205 227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121612
SMART Domains Protein: ENSMUSP00000113260
Gene: ENSMUSG00000060538

DomainStartEndE-ValueType
Pfam:TMEM219 1 122 1e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134134
AA Change: P44L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116806
Gene: ENSMUSG00000060538
AA Change: P44L

DomainStartEndE-ValueType
Pfam:TMEM219 36 219 3.3e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175690
Predicted Effect probably benign
Transcript: ENSMUST00000177004
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit attenuated IL13 responsiveness, increased susceptibility to exposure to 100% oxygen, and reduced lung metastasis of B16-F10 melanoma cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A T 11: 95,835,799 D150E probably damaging Het
Akr1c14 T A 13: 4,081,139 I277N probably damaging Het
Ap1b1 C T 11: 5,019,433 T263I probably damaging Het
Atp6v0d2 C A 4: 19,878,335 V313L probably damaging Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Car2 G A 3: 14,895,628 probably null Het
Cdh17 T A 4: 11,771,262 probably benign Het
Cep295 A G 9: 15,323,559 probably null Het
Cep97 T C 16: 55,930,573 K27E probably damaging Het
Cops5 A T 1: 10,027,249 N258K probably damaging Het
Dchs1 T A 7: 105,755,302 T2678S probably benign Het
Dnah10 T A 5: 124,755,786 F861Y probably benign Het
Dock10 T C 1: 80,526,273 E1777G probably damaging Het
Dock5 G A 14: 67,881,259 Q23* probably null Het
Ermp1 T C 19: 29,615,836 K752R probably benign Het
Fam160a1 A C 3: 85,688,447 I377S probably damaging Het
Gjd2 T A 2: 114,011,106 I297L probably benign Het
Gm1123 T C 9: 99,023,254 M68V probably benign Het
Gm28372 C T 2: 130,406,898 R59W probably damaging Het
Gm9912 A C 3: 149,185,438 F20V unknown Het
Gpat2 T C 2: 127,430,896 F176S possibly damaging Het
Gpr150 T C 13: 76,055,665 H387R possibly damaging Het
Gpr20 T A 15: 73,696,420 D40V probably damaging Het
Jakmip3 A T 7: 139,020,904 Q331L probably damaging Het
Kif5b A T 18: 6,211,019 probably benign Het
Kif5b A G 18: 6,225,647 V179A probably damaging Het
Krt14 A T 11: 100,204,416 probably benign Het
L3mbtl3 A G 10: 26,331,900 F307S unknown Het
Laptm4a T C 12: 8,934,687 probably benign Het
Marveld3 T C 8: 109,948,087 S366G possibly damaging Het
Mga C A 2: 119,951,195 T2234K possibly damaging Het
Mkrn2os T C 6: 115,592,331 N54S probably benign Het
Mras T C 9: 99,411,495 I31V probably damaging Het
Myh1 A G 11: 67,219,906 D1518G probably damaging Het
Myoz2 A T 3: 123,013,781 Y127N possibly damaging Het
Nhlrc1 C A 13: 47,013,962 W273L probably benign Het
Nol9 C T 4: 152,046,043 probably benign Het
Nrxn2 T C 19: 6,509,929 V1206A probably damaging Het
Olfr180 A T 16: 58,915,928 F238I probably damaging Het
Olfr523 T C 7: 140,176,534 I138T probably benign Het
Olfr694 T C 7: 106,689,333 T133A probably benign Het
Olfr774 T A 10: 129,239,072 F308I probably benign Het
Olfr971 T A 9: 39,839,611 M59K probably damaging Het
Pappa T C 4: 65,205,158 probably null Het
Pfkl A G 10: 78,000,731 S151P probably damaging Het
Pgbd5 C T 8: 124,384,379 G191D probably damaging Het
Pikfyve T C 1: 65,253,353 V1276A probably benign Het
Pla2g4c T A 7: 13,348,316 Y486N probably damaging Het
Rasal2 C A 1: 157,175,932 V386L probably benign Het
S1pr3 G A 13: 51,419,512 R243Q probably damaging Het
Slc44a4 A G 17: 34,921,243 D208G probably benign Het
Slc6a4 T C 11: 77,013,288 S190P probably damaging Het
Snapc5 A T 9: 64,180,497 probably null Het
Tbc1d14 C A 5: 36,571,569 R151L probably damaging Het
Tecpr2 T A 12: 110,931,392 probably benign Het
Ube2e1 T C 14: 18,330,951 R51G probably null Het
Ugp2 T C 11: 21,353,447 K53E probably benign Het
Vmn1r214 T C 13: 23,034,492 I52T probably benign Het
Vmn2r124 C T 17: 18,064,068 T457I probably benign Het
Vps13b A G 15: 35,878,789 E2978G probably damaging Het
Zfr A G 15: 12,159,655 D679G probably damaging Het
Zhx3 T C 2: 160,780,714 N511S probably damaging Het
Other mutations in Tmem219
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02186:Tmem219 APN 7 126896816 missense probably benign 0.02
IGL02742:Tmem219 APN 7 126897048 missense probably damaging 1.00
IGL02836:Tmem219 APN 7 126888949 missense probably benign 0.33
R1971:Tmem219 UTSW 7 126897250 missense probably benign 0.18
R2412:Tmem219 UTSW 7 126896767 missense probably damaging 0.99
R6347:Tmem219 UTSW 7 126896826 missense possibly damaging 0.94
R7078:Tmem219 UTSW 7 126891803 missense probably damaging 1.00
R7095:Tmem219 UTSW 7 126891756 missense probably damaging 0.99
R7385:Tmem219 UTSW 7 126896775 missense probably damaging 0.99
Z1088:Tmem219 UTSW 7 126891674 missense possibly damaging 0.58
Posted On2014-02-04