Incidental Mutation 'IGL01759:Tmem219'
ID 153514
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem219
Ensembl Gene ENSMUSG00000060538
Gene Name transmembrane protein 219
Synonyms 2900045G02Rik, 1110032O16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL01759
Quality Score
Status
Chromosome 7
Chromosomal Location 126485343-126522089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126496310 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D123
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: 95,726,625 (GRCm39) D150E probably damaging Het
Akr1c14 T A 13: 4,131,139 (GRCm39) I277N probably damaging Het
Ap1b1 C T 11: 4,969,433 (GRCm39) T263I probably damaging Het
Atp6v0d2 C A 4: 19,878,335 (GRCm39) V313L probably damaging Het
Car2 G A 3: 14,960,688 (GRCm39) probably null Het
Cdh17 T A 4: 11,771,262 (GRCm39) probably benign Het
Cep295 A G 9: 15,234,855 (GRCm39) probably null Het
Cep97 T C 16: 55,750,936 (GRCm39) K27E probably damaging Het
Cops5 A T 1: 10,097,474 (GRCm39) N258K probably damaging Het
Dchs1 T A 7: 105,404,509 (GRCm39) T2678S probably benign Het
Dnah10 T A 5: 124,832,850 (GRCm39) F861Y probably benign Het
Dock10 T C 1: 80,503,990 (GRCm39) E1777G probably damaging Het
Dock5 G A 14: 68,118,708 (GRCm39) Q23* probably null Het
Ermp1 T C 19: 29,593,236 (GRCm39) K752R probably benign Het
Fhip1a A C 3: 85,595,754 (GRCm39) I377S probably damaging Het
Gjd2 T A 2: 113,841,587 (GRCm39) I297L probably benign Het
Gm1123 T C 9: 98,905,307 (GRCm39) M68V probably benign Het
Gm28372 C T 2: 130,248,818 (GRCm39) R59W probably damaging Het
Gm9912 A C 3: 148,891,074 (GRCm39) F20V unknown Het
Gpat2 T C 2: 127,272,816 (GRCm39) F176S possibly damaging Het
Gpr150 T C 13: 76,203,784 (GRCm39) H387R possibly damaging Het
Gpr20 T A 15: 73,568,269 (GRCm39) D40V probably damaging Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Jakmip3 A T 7: 138,622,633 (GRCm39) Q331L probably damaging Het
Kif5b A G 18: 6,225,647 (GRCm39) V179A probably damaging Het
Kif5b A T 18: 6,211,019 (GRCm39) probably benign Het
Krt14 A T 11: 100,095,242 (GRCm39) probably benign Het
L3mbtl3 A G 10: 26,207,798 (GRCm39) F307S unknown Het
Laptm4a T C 12: 8,984,687 (GRCm39) probably benign Het
Marveld3 T C 8: 110,674,719 (GRCm39) S366G possibly damaging Het
Mga C A 2: 119,781,676 (GRCm39) T2234K possibly damaging Het
Mkrn2os T C 6: 115,569,292 (GRCm39) N54S probably benign Het
Mras T C 9: 99,293,548 (GRCm39) I31V probably damaging Het
Myh1 A G 11: 67,110,732 (GRCm39) D1518G probably damaging Het
Myoz2 A T 3: 122,807,430 (GRCm39) Y127N possibly damaging Het
Nhlrc1 C A 13: 47,167,438 (GRCm39) W273L probably benign Het
Nol9 C T 4: 152,130,500 (GRCm39) probably benign Het
Nrxn2 T C 19: 6,559,959 (GRCm39) V1206A probably damaging Het
Or2ag1b T C 7: 106,288,540 (GRCm39) T133A probably benign Het
Or5k16 A T 16: 58,736,291 (GRCm39) F238I probably damaging Het
Or6c5 T A 10: 129,074,941 (GRCm39) F308I probably benign Het
Or6f2 T C 7: 139,756,447 (GRCm39) I138T probably benign Het
Or8g2b T A 9: 39,750,907 (GRCm39) M59K probably damaging Het
Pappa T C 4: 65,123,395 (GRCm39) probably null Het
Pfkl A G 10: 77,836,565 (GRCm39) S151P probably damaging Het
Pgbd5 C T 8: 125,111,118 (GRCm39) G191D probably damaging Het
Pikfyve T C 1: 65,292,512 (GRCm39) V1276A probably benign Het
Pla2g4c T A 7: 13,082,241 (GRCm39) Y486N probably damaging Het
Rasal2 C A 1: 157,003,502 (GRCm39) V386L probably benign Het
S1pr3 G A 13: 51,573,548 (GRCm39) R243Q probably damaging Het
Slc44a4 A G 17: 35,140,219 (GRCm39) D208G probably benign Het
Slc6a4 T C 11: 76,904,114 (GRCm39) S190P probably damaging Het
Snapc5 A T 9: 64,087,779 (GRCm39) probably null Het
Tbc1d14 C A 5: 36,728,913 (GRCm39) R151L probably damaging Het
Tecpr2 T A 12: 110,897,826 (GRCm39) probably benign Het
Ube2e1 T C 14: 18,330,951 (GRCm38) R51G probably null Het
Ugp2 T C 11: 21,303,447 (GRCm39) K53E probably benign Het
Vmn1r214 T C 13: 23,218,662 (GRCm39) I52T probably benign Het
Vmn2r124 C T 17: 18,284,330 (GRCm39) T457I probably benign Het
Vps13b A G 15: 35,878,935 (GRCm39) E2978G probably damaging Het
Zfr A G 15: 12,159,741 (GRCm39) D679G probably damaging Het
Zhx3 T C 2: 160,622,634 (GRCm39) N511S probably damaging Het
Other mutations in Tmem219
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02186:Tmem219 APN 7 126,495,988 (GRCm39) missense probably benign 0.02
IGL02742:Tmem219 APN 7 126,496,220 (GRCm39) missense probably damaging 1.00
IGL02836:Tmem219 APN 7 126,488,121 (GRCm39) missense probably benign 0.33
R1971:Tmem219 UTSW 7 126,496,422 (GRCm39) missense probably benign 0.18
R2412:Tmem219 UTSW 7 126,495,939 (GRCm39) missense probably damaging 0.99
R6347:Tmem219 UTSW 7 126,495,998 (GRCm39) missense possibly damaging 0.94
R7078:Tmem219 UTSW 7 126,490,975 (GRCm39) missense probably damaging 1.00
R7095:Tmem219 UTSW 7 126,490,928 (GRCm39) missense probably damaging 0.99
R7385:Tmem219 UTSW 7 126,495,947 (GRCm39) missense probably damaging 0.99
R9372:Tmem219 UTSW 7 126,496,017 (GRCm39) missense possibly damaging 0.69
R9573:Tmem219 UTSW 7 126,490,933 (GRCm39) missense probably damaging 1.00
Z1088:Tmem219 UTSW 7 126,490,846 (GRCm39) missense possibly damaging 0.58
Posted On 2014-02-04