Incidental Mutation 'R2886:Sit1'
ID 261043
Institutional Source Beutler Lab
Gene Symbol Sit1
Ensembl Gene ENSMUSG00000028460
Gene Name suppression inducing transmembrane adaptor 1
Synonyms Sit
MMRRC Submission 040474-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R2886 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 43482083-43483709 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43483314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 50 (R50H)
Ref Sequence ENSEMBL: ENSMUSP00000030180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030180]
AlphaFold Q8C503
Predicted Effect possibly damaging
Transcript: ENSMUST00000030180
AA Change: R50H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030180
Gene: ENSMUSG00000028460
AA Change: R50H

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123526
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (38/38)
MGI Phenotype PHENOTYPE: Homozygous null mice exhibit altered T-cell development, thymus hyperplasia, decreased lymph node cellularity and are more susceptible to develop experimental autoimmune encephalomyelitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,035,712 (GRCm39) probably benign Het
Bicdl2 G A 17: 23,885,732 (GRCm39) probably null Het
Cables1 A G 18: 12,072,789 (GRCm39) D448G possibly damaging Het
Casq2 A T 3: 102,051,534 (GRCm39) N338I probably damaging Het
Ccr1l1 T C 9: 123,777,553 (GRCm39) N298S probably damaging Het
Dnajc17 A G 2: 119,009,933 (GRCm39) V231A probably benign Het
Ell2 T C 13: 75,911,904 (GRCm39) S397P probably damaging Het
Gm9966 T C 7: 95,607,753 (GRCm39) C25R unknown Het
H2-DMa A G 17: 34,356,121 (GRCm39) N41S probably damaging Het
Helz2 A G 2: 180,882,535 (GRCm39) M86T probably benign Het
Il17rd T A 14: 26,821,510 (GRCm39) I268N probably damaging Het
Ipcef1 C T 10: 6,850,641 (GRCm39) V317M probably damaging Het
Itgae A T 11: 73,031,513 (GRCm39) E1076D probably benign Het
Kcnq5 A T 1: 21,539,771 (GRCm39) Y382* probably null Het
Kif21b G A 1: 136,075,612 (GRCm39) probably benign Het
Lilrb4a A T 10: 51,367,709 (GRCm39) N84Y probably benign Het
Mdga2 A G 12: 66,553,044 (GRCm39) probably benign Het
Naca T C 10: 127,877,547 (GRCm39) probably benign Het
Naif1 C T 2: 32,344,887 (GRCm39) P197L probably benign Het
Nrk T C X: 137,876,197 (GRCm39) L466P probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Pkn1 G A 8: 84,407,867 (GRCm39) A421V probably benign Het
Rusc2 A G 4: 43,415,456 (GRCm39) Q254R probably benign Het
Ryr1 G T 7: 28,774,223 (GRCm39) R2404S probably damaging Het
Selenon T C 4: 134,270,380 (GRCm39) D324G probably null Het
Serpinh1 T C 7: 98,998,228 (GRCm39) Y134C probably damaging Het
Serpini2 T C 3: 75,166,921 (GRCm39) Y112C probably damaging Het
Setx T G 2: 29,038,637 (GRCm39) C1707W probably damaging Het
Slc27a5 T A 7: 12,723,487 (GRCm39) probably benign Het
Slc5a4b C T 10: 75,910,907 (GRCm39) V310M probably damaging Het
Smc6 T C 12: 11,326,294 (GRCm39) V97A probably damaging Het
Ube2frt A G 12: 36,140,574 (GRCm39) probably benign Het
Usp42 T C 5: 143,707,384 (GRCm39) probably benign Het
Utrn A T 10: 12,615,105 (GRCm39) probably null Het
Vmn2r82 A G 10: 79,232,082 (GRCm39) I694V probably benign Het
Vmn2r-ps69 T C 7: 84,956,832 (GRCm39) noncoding transcript Het
Zfpm2 A G 15: 40,965,719 (GRCm39) T603A probably benign Het
Other mutations in Sit1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02859:Sit1 APN 4 43,482,831 (GRCm39) missense probably benign 0.01
R0324:Sit1 UTSW 4 43,482,815 (GRCm39) nonsense probably null
R0483:Sit1 UTSW 4 43,482,991 (GRCm39) missense possibly damaging 0.52
R2679:Sit1 UTSW 4 43,483,157 (GRCm39) missense probably damaging 1.00
R2885:Sit1 UTSW 4 43,483,314 (GRCm39) missense possibly damaging 0.93
R5644:Sit1 UTSW 4 43,483,562 (GRCm39) missense probably benign 0.38
R6154:Sit1 UTSW 4 43,482,981 (GRCm39) missense probably benign 0.44
R6264:Sit1 UTSW 4 43,482,651 (GRCm39) missense possibly damaging 0.94
R6694:Sit1 UTSW 4 43,483,311 (GRCm39) missense probably damaging 0.97
R6796:Sit1 UTSW 4 43,482,761 (GRCm39) missense probably benign 0.00
R8345:Sit1 UTSW 4 43,483,168 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGTGCAGGTTGCCATACAG -3'
(R):5'- ATCAACTCGCATGGGGTAAGC -3'

Sequencing Primer
(F):5'- TTGCCATACAGGGGAACTTC -3'
(R):5'- ATGTGGTTCCATGTTCTATCTGATC -3'
Posted On 2015-01-23