Incidental Mutation 'IGL01769:Smim19'
ID 153821
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smim19
Ensembl Gene ENSMUSG00000031534
Gene Name small integral membrane protein 19
Synonyms EST-c39, AI316807
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL01769
Quality Score
Status
Chromosome 8
Chromosomal Location 22952630-22966850 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 22953393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033935] [ENSMUST00000163774]
AlphaFold Q80ZU4
Predicted Effect probably null
Transcript: ENSMUST00000033935
SMART Domains Protein: ENSMUSP00000033935
Gene: ENSMUSG00000031534

DomainStartEndE-ValueType
Pfam:UPF0697 9 107 4.1e-56 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000163774
SMART Domains Protein: ENSMUSP00000131855
Gene: ENSMUSG00000031534

DomainStartEndE-ValueType
Pfam:UPF0697 15 112 1.1e-53 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 130,959,215 (GRCm39) M162L probably benign Het
Aldh1a1 A T 19: 20,620,283 (GRCm39) T487S probably benign Het
Bahcc1 T C 11: 120,171,030 (GRCm39) probably benign Het
Cldn10 G A 14: 119,111,129 (GRCm39) probably benign Het
Cntn3 G A 6: 102,185,145 (GRCm39) T657I probably damaging Het
Crb1 A T 1: 139,264,806 (GRCm39) I204K probably damaging Het
Crim1 C A 17: 78,620,664 (GRCm39) T368K probably benign Het
Csad C A 15: 102,088,516 (GRCm39) V237L probably benign Het
Cyp39a1 T G 17: 44,060,806 (GRCm39) H451Q possibly damaging Het
Dclk2 T C 3: 86,723,667 (GRCm39) E376G possibly damaging Het
Dnah10 A T 5: 124,842,008 (GRCm39) Y1331F possibly damaging Het
Dnajc11 A T 4: 152,063,759 (GRCm39) I452L probably damaging Het
Dpf2 T C 19: 5,962,810 (GRCm39) probably benign Het
Elovl2 A C 13: 41,340,420 (GRCm39) V225G probably damaging Het
Fancd2 T A 6: 113,522,072 (GRCm39) H222Q possibly damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Flt4 C T 11: 49,525,998 (GRCm39) probably benign Het
Foxp2 T C 6: 15,409,834 (GRCm39) V478A possibly damaging Het
H2-Q1 G A 17: 35,542,505 (GRCm39) V317M probably benign Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Igkv3-5 G A 6: 70,640,336 (GRCm39) probably benign Het
Isg20 G A 7: 78,564,129 (GRCm39) C12Y probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Nat8f5 G A 6: 85,794,859 (GRCm39) R34C probably benign Het
Or8d2 T C 9: 38,759,629 (GRCm39) V73A probably benign Het
Pramel7 A G 2: 87,319,932 (GRCm39) S454P probably benign Het
Rarb T A 14: 16,443,760 (GRCm38) E176V probably damaging Het
Sema4a T A 3: 88,357,063 (GRCm39) I303F possibly damaging Het
Slc25a24 G A 3: 109,056,816 (GRCm39) E110K probably damaging Het
Slc7a13 A T 4: 19,839,527 (GRCm39) I377L probably benign Het
Tiam2 A G 17: 3,477,565 (GRCm39) Y596C probably damaging Het
Tlr1 A T 5: 65,083,290 (GRCm39) L429* probably null Het
Ubxn8 G A 8: 34,119,406 (GRCm39) probably benign Het
Vmn2r108 C A 17: 20,691,280 (GRCm39) M414I probably benign Het
Vmn2r99 A G 17: 19,600,377 (GRCm39) N467S probably damaging Het
Zfp456 T A 13: 67,515,272 (GRCm39) T145S probably benign Het
Other mutations in Smim19
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1740:Smim19 UTSW 8 22,963,544 (GRCm39) nonsense probably null
R5551:Smim19 UTSW 8 22,953,383 (GRCm39) missense probably benign 0.05
Posted On 2014-02-04