Incidental Mutation 'R1740:Smim19'
ID 200284
Institutional Source Beutler Lab
Gene Symbol Smim19
Ensembl Gene ENSMUSG00000031534
Gene Name small integral membrane protein 19
Synonyms EST-c39, AI316807
MMRRC Submission 039772-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R1740 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 22952630-22966850 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 22963544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 21 (Y21*)
Ref Sequence ENSEMBL: ENSMUSP00000131855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033935] [ENSMUST00000067786] [ENSMUST00000163774] [ENSMUST00000209305]
AlphaFold Q80ZU4
Predicted Effect probably null
Transcript: ENSMUST00000033935
AA Change: Y16*
SMART Domains Protein: ENSMUSP00000033935
Gene: ENSMUSG00000031534
AA Change: Y16*

DomainStartEndE-ValueType
Pfam:UPF0697 9 107 4.1e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067786
SMART Domains Protein: ENSMUSP00000065935
Gene: ENSMUSG00000037656

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:PHO4 24 638 1.6e-160 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000163774
AA Change: Y21*
SMART Domains Protein: ENSMUSP00000131855
Gene: ENSMUSG00000031534
AA Change: Y21*

DomainStartEndE-ValueType
Pfam:UPF0697 15 112 1.1e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209305
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,549 (GRCm39) C417* probably null Het
4930548G14Rik G A 15: 46,488,885 (GRCm39) noncoding transcript Het
Abcc12 T A 8: 87,232,126 (GRCm39) K1311* probably null Het
Abcc12 T C 8: 87,236,400 (GRCm39) D1138G possibly damaging Het
Adam32 A G 8: 25,411,314 (GRCm39) S116P probably damaging Het
Arhgef26 C T 3: 62,331,004 (GRCm39) L39F probably damaging Het
Babam1 T C 8: 71,855,663 (GRCm39) I252T probably damaging Het
Btf3 C T 13: 98,452,804 (GRCm39) M1I probably null Het
Ccdc61 G T 7: 18,637,862 (GRCm39) probably benign Het
Ccdc89 C T 7: 90,075,946 (GRCm39) S52F probably damaging Het
Cds2 T A 2: 132,144,133 (GRCm39) I320N possibly damaging Het
Cebpe T C 14: 54,949,399 (GRCm39) Y6C probably damaging Het
Cep250 T A 2: 155,815,276 (GRCm39) I598N probably damaging Het
Cep350 T A 1: 155,804,579 (GRCm39) I835F probably damaging Het
Ces3a T C 8: 105,775,317 (GRCm39) L22P probably damaging Het
Cfap221 T C 1: 119,873,558 (GRCm39) S490G probably benign Het
Cyp2j11 A G 4: 96,207,613 (GRCm39) V234A probably benign Het
Dgat1 T C 15: 76,386,929 (GRCm39) H399R probably damaging Het
Dnah10 A T 5: 124,850,254 (GRCm39) probably null Het
Ebpl T G 14: 61,578,656 (GRCm39) K193T probably benign Het
Entpd5 T C 12: 84,443,545 (GRCm39) N66S probably benign Het
Fcgbp G T 7: 27,800,674 (GRCm39) G1240V possibly damaging Het
Gabra5 A G 7: 57,071,590 (GRCm39) S209P probably benign Het
Glce A T 9: 61,977,815 (GRCm39) V23D probably damaging Het
Gm14226 GACTGTTAC GAC 2: 154,866,851 (GRCm39) probably benign Het
Gtf2h1 A G 7: 46,461,890 (GRCm39) N296S probably null Het
Herc6 T C 6: 57,629,050 (GRCm39) S654P probably benign Het
Kcnk3 A T 5: 30,779,321 (GRCm39) M124L possibly damaging Het
Lamb2 T G 9: 108,359,127 (GRCm39) V281G probably damaging Het
Lctl A T 9: 64,040,389 (GRCm39) D444V probably damaging Het
Mcm2 A G 6: 88,861,026 (GRCm39) F891L probably damaging Het
Mcub A T 3: 129,712,376 (GRCm39) H166Q probably benign Het
Mical2 G T 7: 111,933,043 (GRCm39) R739L probably benign Het
Mideas T C 12: 84,219,676 (GRCm39) E426G probably damaging Het
Mkrn2 G T 6: 115,590,330 (GRCm39) A229S probably damaging Het
Mmp7 A G 9: 7,695,278 (GRCm39) Y80C possibly damaging Het
Mpp2 T C 11: 101,953,222 (GRCm39) probably null Het
Msh6 C A 17: 88,293,150 (GRCm39) T635K possibly damaging Het
Mvd T A 8: 123,163,286 (GRCm39) T315S probably benign Het
Myocd C T 11: 65,109,347 (GRCm39) probably benign Het
Nav1 C T 1: 135,386,127 (GRCm39) probably null Het
Or4k48 T A 2: 111,476,214 (GRCm39) I43F probably damaging Het
Pde4b A T 4: 102,344,548 (GRCm39) D141V probably damaging Het
Pdgfrb A T 18: 61,214,905 (GRCm39) D978V possibly damaging Het
Prss55 T C 14: 64,313,129 (GRCm39) T252A probably damaging Het
Psd3 A T 8: 68,573,491 (GRCm39) V230E probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Ptprn A G 1: 75,238,694 (GRCm39) V82A probably damaging Het
Ptpru G T 4: 131,520,989 (GRCm39) probably null Het
Raph1 T A 1: 60,558,183 (GRCm39) K258* probably null Het
Rnf25 A G 1: 74,637,886 (GRCm39) V28A probably damaging Het
Slc25a4 C T 8: 46,661,540 (GRCm39) V212M probably benign Het
Slc39a3 T C 10: 80,867,342 (GRCm39) S135G probably damaging Het
Slco6d1 A G 1: 98,356,097 (GRCm39) I220M probably damaging Het
Speer4f1 A C 5: 17,683,759 (GRCm39) Y141S probably damaging Het
Srgap2 G A 1: 131,217,126 (GRCm39) P1062L probably benign Het
Stra8 A T 6: 34,904,654 (GRCm39) probably benign Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tmem40 A G 6: 115,715,960 (GRCm39) S76P probably benign Het
Unc13b C T 4: 43,240,285 (GRCm39) R3569W probably damaging Het
Vmn1r128 A T 7: 21,083,869 (GRCm39) Q191L probably benign Het
Washc2 T A 6: 116,208,593 (GRCm39) probably benign Het
Other mutations in Smim19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01769:Smim19 APN 8 22,953,393 (GRCm39) critical splice acceptor site probably null
PIT4802001:Smim19 UTSW 8 22,963,539 (GRCm39) missense probably benign 0.03
R1559:Smim19 UTSW 8 22,953,352 (GRCm39) missense probably damaging 1.00
R5551:Smim19 UTSW 8 22,953,383 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GGACAGCACCTCTCCATCCAGG -3'
(R):5'- AACTCCGCTGGCTCAGTCCC -3'

Sequencing Primer
(F):5'- TCCATCCAGGAACAAGATTTCTGAAG -3'
(R):5'- ttgacaccccccagcac -3'
Posted On 2014-05-23