Incidental Mutation 'R3754:Smim5'
ID 473470
Institutional Source Beutler Lab
Gene Symbol Smim5
Ensembl Gene ENSMUSG00000048442
Gene Name small integral membrane protein 5
Synonyms 2210020M01Rik
Accession Numbers
Essential gene? Not available question?
Stock # R3754 (G1)
Quality Score 121
Status Not validated
Chromosome 11
Chromosomal Location 115790792-115797095 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115796549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 57 (C57R)
Ref Sequence ENSEMBL: ENSMUSP00000139148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000131566] [ENSMUST00000131578] [ENSMUST00000140174] [ENSMUST00000142089] [ENSMUST00000152171]
AlphaFold Q8BT42
Predicted Effect probably benign
Transcript: ENSMUST00000021097
SMART Domains Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752

DomainStartEndE-ValueType
DEXDc 25 230 1.13e-29 SMART
HELICc 274 355 8.68e-22 SMART
Pfam:RecQ_Zn_bind 366 436 1.8e-12 PFAM
low complexity region 472 499 N/A INTRINSIC
PDB:4BK0|B 516 621 2e-51 PDB
Pfam:RecQ5 626 818 3.1e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131566
Predicted Effect probably benign
Transcript: ENSMUST00000131578
SMART Domains Protein: ENSMUSP00000136178
Gene: ENSMUSG00000020752

DomainStartEndE-ValueType
HELICc 1 82 8.68e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140174
SMART Domains Protein: ENSMUSP00000136506
Gene: ENSMUSG00000020752

DomainStartEndE-ValueType
DEXDc 25 230 1.13e-29 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000142089
AA Change: C57R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138928
Gene: ENSMUSG00000048442
AA Change: C57R

DomainStartEndE-ValueType
transmembrane domain 30 52 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147172
Predicted Effect probably damaging
Transcript: ENSMUST00000152171
AA Change: C57R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139148
Gene: ENSMUSG00000048442
AA Change: C57R

DomainStartEndE-ValueType
transmembrane domain 30 52 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap3 T C 4: 135,956,766 (GRCm39) probably null Het
Atp12a G A 14: 56,610,045 (GRCm39) V182I probably benign Het
Gad2 A T 2: 22,571,352 (GRCm39) D430V possibly damaging Het
Hr A G 14: 70,805,264 (GRCm39) E1002G probably damaging Het
Itpkc G T 7: 26,927,857 (GRCm39) P19Q probably damaging Het
Lrrc72 A G 12: 36,262,567 (GRCm39) S42P probably benign Het
Med1 A G 11: 98,057,548 (GRCm39) V318A possibly damaging Het
Myef2l G A 3: 10,153,575 (GRCm39) V115I possibly damaging Het
Nek11 A T 9: 105,191,917 (GRCm39) N164K probably damaging Het
Neurod2 A G 11: 98,218,526 (GRCm39) S213P probably damaging Het
Nhsl1 A G 10: 18,391,782 (GRCm39) N179D probably damaging Het
Nr2f2 T C 7: 70,007,769 (GRCm39) I238V probably benign Het
Rpl37 C A 15: 5,146,770 (GRCm39) T2K possibly damaging Het
Slf2 A G 19: 44,961,676 (GRCm39) D1065G probably benign Het
Soat2 T A 15: 102,065,513 (GRCm39) V236D probably damaging Het
Teddm3 C T 16: 20,971,898 (GRCm39) D224N possibly damaging Het
Tm2d2 G A 8: 25,510,494 (GRCm39) V118I probably damaging Het
Ttc22 C A 4: 106,496,278 (GRCm39) R443S probably damaging Het
Upf1 A G 8: 70,792,464 (GRCm39) I368T probably benign Het
Xrn1 G T 9: 95,849,841 (GRCm39) D129Y probably damaging Het
Zfp109 A G 7: 23,929,181 (GRCm39) M76T probably benign Het
Znrf1 G A 8: 112,345,843 (GRCm39) V76M probably damaging Het
Predicted Primers
Posted On 2017-04-14