Incidental Mutation 'IGL02742:Tmem219'
ID305945
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: 0.062) question?
Stock #IGL02742
Quality Score
Status
Chromosome7
Chromosomal Location126886171-126922917 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 126897048 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 74 (L74P)
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: L48P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032926
Gene: ENSMUSG00000060538
AA Change: L48P

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: L73P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114040
Gene: ENSMUSG00000060538
AA Change: L73P

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: L80P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113647
Gene: ENSMUSG00000060538
AA Change: L80P

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: L48P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112485
Gene: ENSMUSG00000060538
AA Change: L48P

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: L74P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116806
Gene: ENSMUSG00000060538
AA Change: L74P

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,095,625 T506A probably damaging Het
AI314180 A G 4: 58,840,757 V667A probably damaging Het
Ankib1 A C 5: 3,693,479 D845E probably benign Het
Atxn2 T C 5: 121,781,336 V369A possibly damaging Het
Ccdc50 T A 16: 27,406,784 probably benign Het
Clec2g A G 6: 128,980,261 I61V possibly damaging Het
Col16a1 G A 4: 130,061,379 probably benign Het
Dapk2 A G 9: 66,231,814 Y139C probably damaging Het
Fnip1 T C 11: 54,493,351 L334P probably damaging Het
Igf1r A G 7: 68,189,991 E682G possibly damaging Het
Ints8 T C 4: 11,241,627 E272G possibly damaging Het
Jph2 G A 2: 163,375,779 P326S probably damaging Het
Krtap1-4 T C 11: 99,583,114 probably benign Het
Lrp5 A G 19: 3,604,022 I1135T probably damaging Het
Lrrk1 A G 7: 66,308,691 V320A probably benign Het
Myh6 A C 14: 54,953,924 I820S possibly damaging Het
Napg A T 18: 62,986,248 T110S probably damaging Het
Nova1 G A 12: 46,720,692 Q56* probably null Het
Phyhip A G 14: 70,461,927 probably null Het
Pkd2l2 C A 18: 34,416,917 S205* probably null Het
Ppp2r1a G T 17: 20,959,003 C101F probably benign Het
Serpinb3c G A 1: 107,273,142 R182* probably null Het
St18 A C 1: 6,802,316 probably benign Het
St6galnac4 C T 2: 32,597,084 R264C possibly damaging Het
Tmem168 T C 6: 13,603,262 Y35C probably benign Het
Trpc4 T A 3: 54,299,246 N622K probably damaging Het
Trpm6 A C 19: 18,830,012 probably benign Het
Ttl C A 2: 129,066,293 F49L possibly damaging Het
Vmn1r123 A T 7: 21,163,043 I287F possibly damaging Het
Vmn2r97 T G 17: 18,929,170 I273M probably damaging Het
Wdr5 C A 2: 27,520,425 probably benign Het
Zcchc6 C T 13: 59,816,342 D250N probably damaging Het
Zfp37 C A 4: 62,192,311 C172F possibly damaging Het
Other mutations in Tmem219
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Tmem219 APN 7 126897138 missense probably damaging 1.00
IGL02186:Tmem219 APN 7 126896816 missense probably benign 0.02
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 On2015-04-16