Incidental Mutation 'R5116:Tmem19'
ID 394206
Institutional Source Beutler Lab
Gene Symbol Tmem19
Ensembl Gene ENSMUSG00000069520
Gene Name transmembrane protein 19
Synonyms 2810428F02Rik
MMRRC Submission 042704-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R5116 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 115176644-115198406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115179651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 167 (F167I)
Ref Sequence ENSEMBL: ENSMUSP00000151762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092170] [ENSMUST00000217848] [ENSMUST00000217884] [ENSMUST00000217887] [ENSMUST00000218731] [ENSMUST00000219890]
AlphaFold Q91W52
Predicted Effect probably benign
Transcript: ENSMUST00000092170
AA Change: F267I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000089808
Gene: ENSMUSG00000069520
AA Change: F267I

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 benign
Transcript: ENSMUST00000217884
AA Change: F233I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000217887
AA Change: F282I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218731
AA Change: F167I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219821
Predicted Effect probably benign
Transcript: ENSMUST00000219890
AA Change: F233I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.5%
Validation Efficiency 97% (59/61)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,216,930 (GRCm39) H429R probably damaging Het
Adam39 G T 8: 41,278,038 (GRCm39) C143F probably damaging Het
Adamts19 T C 18: 59,036,066 (GRCm39) V417A possibly damaging Het
Adcy10 C A 1: 165,347,069 (GRCm39) A362E probably damaging Het
Akap6 A G 12: 53,188,298 (GRCm39) E1904G probably benign Het
Aldh18a1 A G 19: 40,541,949 (GRCm39) M89T probably benign Het
Alyref G T 11: 120,488,554 (GRCm39) F91L probably benign Het
Capn3 G T 2: 120,315,773 (GRCm39) M248I probably benign Het
Catsper4 A T 4: 133,953,991 (GRCm39) I56N probably damaging Het
Cckbr T A 7: 105,082,862 (GRCm39) I75N probably damaging Het
Ccr8 T C 9: 119,923,095 (GRCm39) I70T probably benign Het
Cdh24 T C 14: 54,873,870 (GRCm39) D428G probably benign Het
Cdk5rap2 G T 4: 70,225,475 (GRCm39) Q557K possibly damaging Het
Clip1 C T 5: 123,768,770 (GRCm39) A610T probably benign Het
Dnajc16 A T 4: 141,495,280 (GRCm39) Y479* probably null Het
Fpr-rs3 A G 17: 20,844,562 (GRCm39) V193A probably benign Het
Gm29125 T C 1: 80,361,690 (GRCm39) noncoding transcript Het
H1f4 A G 13: 23,806,270 (GRCm39) Y71H probably damaging Het
Ifi208 A G 1: 173,505,549 (GRCm39) probably benign Het
Immp1l G A 2: 105,795,640 (GRCm39) R155H probably benign Het
Itgad C A 7: 127,803,065 (GRCm39) T7K probably damaging Het
Itgb3 T C 11: 104,531,903 (GRCm39) V370A probably benign Het
Jak1 A G 4: 101,012,310 (GRCm39) I1053T probably benign Het
Kif21b A G 1: 136,080,521 (GRCm39) R572G probably damaging Het
Lama2 A T 10: 26,994,556 (GRCm39) D1784E probably benign Het
Ltbp2 A T 12: 84,856,511 (GRCm39) V651D probably damaging Het
Mrpl47 A G 3: 32,787,750 (GRCm39) L100S probably damaging Het
Mx1 T G 16: 97,258,679 (GRCm39) N6T possibly damaging Het
Nde1 T A 16: 14,001,351 (GRCm39) M133K probably benign Het
Nlrc5 T C 8: 95,208,488 (GRCm39) L778P probably damaging Het
Odad3 A G 9: 21,901,424 (GRCm39) *595Q probably null Het
Or52e19b G A 7: 103,033,071 (GRCm39) T46I probably benign Het
Or5l13 G A 2: 87,779,873 (GRCm39) R235C probably benign Het
Or6c3b A G 10: 129,527,266 (GRCm39) S215P probably damaging Het
Or7g32 A G 9: 19,389,094 (GRCm39) S151P possibly damaging Het
Or8b38 T C 9: 37,972,634 (GRCm39) V6A probably benign Het
Otog T C 7: 45,923,191 (GRCm39) V1022A probably benign Het
Pcdhac1 G A 18: 37,224,500 (GRCm39) V438M probably damaging Het
Pcsk5 G A 19: 17,440,798 (GRCm39) S1264F possibly damaging Het
Pfas T C 11: 68,881,816 (GRCm39) probably benign Het
Pigr T A 1: 130,776,768 (GRCm39) F648I probably benign Het
Pla2r1 A C 2: 60,279,250 (GRCm39) Y777D probably damaging Het
Pnpla7 G T 2: 24,911,982 (GRCm39) G716V probably damaging Het
Rab11fip5 C T 6: 85,325,789 (GRCm39) E206K probably damaging Het
S100a10 A G 3: 93,468,247 (GRCm39) probably null Het
Slc35f1 T C 10: 52,897,991 (GRCm39) I134T probably benign Het
Smarcd1 C T 15: 99,600,369 (GRCm39) A56V probably benign Het
Snrk A G 9: 121,989,396 (GRCm39) T247A probably benign Het
Srgap1 A G 10: 121,628,284 (GRCm39) L896P possibly damaging Het
Tmprss11f T C 5: 86,687,555 (GRCm39) S118G probably benign Het
Tnc A G 4: 63,885,452 (GRCm39) probably null Het
Trem3 T C 17: 48,556,580 (GRCm39) L17P probably benign Het
Upp2 A G 2: 58,661,554 (GRCm39) Y67C probably damaging Het
Zfp276 A G 8: 123,991,716 (GRCm39) probably benign Het
Zfp932 T A 5: 110,157,242 (GRCm39) D280E probably benign Het
Other mutations in Tmem19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02675:Tmem19 APN 10 115,178,478 (GRCm39) missense probably damaging 1.00
R0492:Tmem19 UTSW 10 115,197,715 (GRCm39) nonsense probably null
R1523:Tmem19 UTSW 10 115,183,122 (GRCm39) missense probably damaging 0.98
R3725:Tmem19 UTSW 10 115,195,675 (GRCm39) splice site probably benign
R3726:Tmem19 UTSW 10 115,195,675 (GRCm39) splice site probably benign
R5033:Tmem19 UTSW 10 115,195,666 (GRCm39) missense probably benign 0.15
R5629:Tmem19 UTSW 10 115,183,165 (GRCm39) missense probably benign 0.03
R6928:Tmem19 UTSW 10 115,183,179 (GRCm39) missense possibly damaging 0.95
R7426:Tmem19 UTSW 10 115,183,604 (GRCm39) missense probably damaging 1.00
R7882:Tmem19 UTSW 10 115,179,608 (GRCm39) missense probably benign 0.33
R8690:Tmem19 UTSW 10 115,179,765 (GRCm39) missense probably damaging 1.00
R8781:Tmem19 UTSW 10 115,195,563 (GRCm39) start gained probably benign
R8944:Tmem19 UTSW 10 115,183,671 (GRCm39) missense possibly damaging 0.66
R9058:Tmem19 UTSW 10 115,198,031 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TTACAGCAGTGACTTCCTGTC -3'
(R):5'- ATTTGCTGCTTGACTACTAACCAG -3'

Sequencing Primer
(F):5'- GACTTCCTGTCACTTCCAGC -3'
(R):5'- GCTTGACTACTAACCAGATGACTTGG -3'
Posted On 2016-06-15