Incidental Mutation 'IGL02836:Tmem219'
ID361658
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: 0.077) question?
Stock #IGL02836
Quality Score
Status
Chromosome7
Chromosomal Location126886171-126922917 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 126888949 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 265 (F265I)
Ref Sequence ENSEMBL: ENSMUSP00000113647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032926] [ENSMUST00000071268] [ENSMUST00000117394] [ENSMUST00000119781] [ENSMUST00000120007] [ENSMUST00000121532] [ENSMUST00000121612] [ENSMUST00000134134]
Predicted Effect probably benign
Transcript: ENSMUST00000032926
AA Change: F233I

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032926
Gene: ENSMUSG00000060538
AA Change: F233I

DomainStartEndE-ValueType
Pfam:TMEM219 10 193 4.8e-51 PFAM
transmembrane domain 205 227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071268
SMART Domains Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981

DomainStartEndE-ValueType
S_TKc 28 281 6.42e-86 SMART
low complexity region 319 333 N/A INTRINSIC
coiled coil region 373 401 N/A INTRINSIC
low complexity region 449 465 N/A INTRINSIC
coiled coil region 493 526 N/A INTRINSIC
low complexity region 558 570 N/A INTRINSIC
coiled coil region 579 608 N/A INTRINSIC
low complexity region 620 639 N/A INTRINSIC
coiled coil region 821 859 N/A INTRINSIC
low complexity region 863 892 N/A INTRINSIC
low complexity region 931 954 N/A INTRINSIC
low complexity region 963 972 N/A INTRINSIC
low complexity region 977 992 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117394
SMART Domains Protein: ENSMUSP00000112963
Gene: ENSMUSG00000059981

DomainStartEndE-ValueType
S_TKc 28 281 6.42e-86 SMART
low complexity region 319 333 N/A INTRINSIC
coiled coil region 373 401 N/A INTRINSIC
low complexity region 449 465 N/A INTRINSIC
coiled coil region 493 526 N/A INTRINSIC
low complexity region 558 570 N/A INTRINSIC
coiled coil region 579 608 N/A INTRINSIC
low complexity region 620 639 N/A INTRINSIC
low complexity region 929 939 N/A INTRINSIC
transmembrane domain 962 984 N/A INTRINSIC
transmembrane domain 991 1013 N/A INTRINSIC
transmembrane domain 1017 1039 N/A INTRINSIC
transmembrane domain 1052 1074 N/A INTRINSIC
low complexity region 1085 1100 N/A INTRINSIC
low complexity region 1197 1215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119781
AA Change: F258I

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114040
Gene: ENSMUSG00000060538
AA Change: F258I

DomainStartEndE-ValueType
Pfam:TMEM219 35 218 6.5e-51 PFAM
transmembrane domain 230 252 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120007
AA Change: F265I

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113647
Gene: ENSMUSG00000060538
AA Change: F265I

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 benign
Transcript: ENSMUST00000121532
AA Change: F233I

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112485
Gene: ENSMUSG00000060538
AA Change: F233I

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 benign
Transcript: ENSMUST00000134134
SMART Domains Protein: ENSMUSP00000116806
Gene: ENSMUSG00000060538

DomainStartEndE-ValueType
Pfam:TMEM219 36 219 3.3e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145307
Predicted Effect probably benign
Transcript: ENSMUST00000154174
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T A 4: 144,623,212 N346K possibly damaging Het
Abca15 A G 7: 120,388,216 M1242V probably benign Het
Abca6 T A 11: 110,248,548 E33D probably damaging Het
Abca8a T C 11: 110,070,351 K582E possibly damaging Het
Abcb6 A G 1: 75,178,002 L263P probably damaging Het
Adamts2 A C 11: 50,787,279 E795A probably damaging Het
Avil T A 10: 127,008,995 I292N probably damaging Het
Ccdc129 T A 6: 55,898,090 W342R probably damaging Het
Cd300ld2 T C 11: 115,013,750 D97G probably benign Het
Cfh A C 1: 140,102,399 I912R probably damaging Het
Cyp26c1 A T 19: 37,687,156 Q156L probably benign Het
Dhx57 T C 17: 80,267,549 I614V probably damaging Het
Dip2c T A 13: 9,610,790 S896T probably damaging Het
Dmtn G T 14: 70,616,078 P97Q probably damaging Het
Dock6 A T 9: 21,801,864 V1931E probably damaging Het
Dpep2 C A 8: 105,990,595 probably null Het
Dsg1c T A 18: 20,267,929 L163Q probably benign Het
Esyt3 A G 9: 99,320,907 probably benign Het
Fcgbp T A 7: 28,117,358 I2415N possibly damaging Het
Fpr-rs6 T C 17: 20,183,045 D18G probably benign Het
Fras1 T C 5: 96,534,866 V74A possibly damaging Het
Frem3 T C 8: 80,614,381 V1101A probably benign Het
Fut8 T A 12: 77,450,213 V399E probably benign Het
Galntl5 G T 5: 25,186,239 K45N probably benign Het
Gbe1 A G 16: 70,561,095 Y669C possibly damaging Het
Gcnt1 T C 19: 17,330,129 I77M probably benign Het
Mark2 A G 19: 7,278,040 probably null Het
Muc2 A T 7: 141,746,713 probably benign Het
Nacc2 C T 2: 26,090,317 V36I probably damaging Het
Nphp1 T C 2: 127,769,623 I268V probably benign Het
Olfr1154 T G 2: 87,903,380 T99P possibly damaging Het
Oosp3 A G 19: 11,700,968 I5V probably benign Het
Pex7 A G 10: 19,894,244 probably benign Het
Prr14l T C 5: 32,831,096 K352E probably benign Het
Rheb T A 5: 24,803,711 I170F probably benign Het
Rpgrip1 A G 14: 52,145,257 probably null Het
Rps2 T A 17: 24,720,676 L107Q probably damaging Het
Rrp1 A T 10: 78,405,040 probably benign Het
Rtcb A T 10: 85,943,942 V288D possibly damaging Het
Sec14l3 T C 11: 4,070,084 F174L probably benign Het
Slc28a1 G A 7: 81,126,161 V202M probably damaging Het
Slc44a3 A T 3: 121,531,717 C32S probably damaging Het
Syne1 G A 10: 5,409,875 probably benign Het
Synrg C A 11: 84,001,978 probably benign Het
Tmem94 T C 11: 115,792,939 I726T probably damaging Het
Trim37 T C 11: 87,196,959 M632T probably benign Het
Trpm6 A T 19: 18,813,482 Q627L probably damaging Het
Uvrag A G 7: 98,979,777 V361A possibly damaging Het
Yipf3 C A 17: 46,251,594 N308K possibly damaging Het
Zfp438 A G 18: 5,245,427 probably benign Het
Zmiz1 T A 14: 25,656,742 probably benign Het
Zranb3 A G 1: 127,960,825 V841A probably benign 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
IGL02742:Tmem219 APN 7 126897048 missense probably damaging 1.00
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 On2015-12-18