Incidental Mutation 'IGL02675:Tmem19'
ID303091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem19
Ensembl Gene ENSMUSG00000069520
Gene Nametransmembrane protein 19
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.192) question?
Stock #IGL02675
Quality Score
Status
Chromosome10
Chromosomal Location115339674-115362501 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115342573 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 281 (L281P)
Ref Sequence ENSEMBL: ENSMUSP00000152044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092170] [ENSMUST00000217848] [ENSMUST00000217884] [ENSMUST00000217887] [ENSMUST00000218731] [ENSMUST00000219890]
Predicted Effect probably damaging
Transcript: ENSMUST00000092170
AA Change: L315P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089808
Gene: ENSMUSG00000069520
AA Change: L315P

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:DUF92 59 323 3.9e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217848
Predicted Effect probably damaging
Transcript: ENSMUST00000217884
AA Change: L281P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217887
AA Change: L330P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000218731
AA Change: L215P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219821
Predicted Effect probably damaging
Transcript: ENSMUST00000219890
AA Change: L281P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano8 A G 8: 71,483,540 I204T probably damaging Het
Anxa8 A G 14: 34,093,414 D150G probably damaging Het
Arel1 T C 12: 84,930,228 T438A probably damaging Het
Asphd1 T C 7: 126,946,834 probably benign Het
Bcl2l12 A T 7: 44,991,400 probably benign Het
Cand1 A G 10: 119,219,697 I87T probably damaging Het
Ccdc80 A C 16: 45,116,332 T707P probably damaging Het
Cdh9 T A 15: 16,849,076 probably null Het
Chrd T C 16: 20,739,949 probably benign Het
Cpn1 T C 19: 43,980,930 Q98R probably benign Het
D630045J12Rik A G 6: 38,195,485 S583P possibly damaging Het
Dnah7a A G 1: 53,504,024 I2329T possibly damaging Het
Egln3 A G 12: 54,203,210 S118P probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Hapln3 C T 7: 79,117,848 probably null Het
Heatr3 T C 8: 88,144,557 F180L possibly damaging Het
Herc2 T A 7: 56,164,101 S2661T probably damaging Het
Hook3 A T 8: 26,061,434 L126Q possibly damaging Het
Hoxd8 T G 2: 74,706,586 L214R probably damaging Het
Ifna1 T G 4: 88,850,433 L116R probably damaging Het
Il31ra T A 13: 112,524,352 T487S probably benign Het
Kifc2 C T 15: 76,662,979 R252W probably damaging Het
Meox2 A G 12: 37,178,334 D290G probably damaging Het
Micu2 A G 14: 57,945,377 probably benign Het
Myh9 T C 15: 77,788,930 T406A possibly damaging Het
Naip1 T A 13: 100,409,118 M1301L probably benign Het
Pbrm1 T C 14: 31,106,287 L1341P possibly damaging Het
Pcna-ps2 C A 19: 9,283,959 A194E probably benign Het
Pdcd10 G A 3: 75,527,594 T130I probably damaging Het
Pprc1 G A 19: 46,063,507 G491D probably damaging Het
Prss57 A G 10: 79,787,475 V46A probably benign Het
Ptcd3 A G 6: 71,883,442 probably null Het
Riok1 C T 13: 38,050,243 P262S probably damaging Het
Rnf13 A G 3: 57,779,396 N70S probably benign Het
Skint7 T A 4: 111,981,981 D157E probably benign Het
Sri T C 5: 8,067,534 F191S probably damaging Het
Stat5b T C 11: 100,787,374 R638G probably benign Het
Suds3 C T 5: 117,094,905 probably null Het
Tmf1 A G 6: 97,164,042 probably benign Het
Trio A G 15: 27,768,039 probably benign Het
Usp28 T C 9: 49,039,091 I940T possibly damaging Het
Wisp3 A G 10: 39,151,240 V332A possibly damaging Het
Zfp280d T A 9: 72,312,222 I227K probably benign Het
Zfp335 A G 2: 164,910,689 V45A probably benign Het
Other mutations in Tmem19
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0492:Tmem19 UTSW 10 115361810 nonsense probably null
R1523:Tmem19 UTSW 10 115347217 missense probably damaging 0.98
R3725:Tmem19 UTSW 10 115359770 splice site probably benign
R3726:Tmem19 UTSW 10 115359770 splice site probably benign
R5033:Tmem19 UTSW 10 115359761 missense probably benign 0.15
R5116:Tmem19 UTSW 10 115343746 missense probably benign 0.00
R5629:Tmem19 UTSW 10 115347260 missense probably benign 0.03
R6928:Tmem19 UTSW 10 115347274 missense possibly damaging 0.95
R7426:Tmem19 UTSW 10 115347699 missense probably damaging 1.00
R7882:Tmem19 UTSW 10 115343703 missense probably benign 0.33
R7965:Tmem19 UTSW 10 115343703 missense probably benign 0.33
Posted On2015-04-16