Incidental Mutation 'R2679:Sit1'
ID 250728
Institutional Source Beutler Lab
Gene Symbol Sit1
Ensembl Gene ENSMUSG00000028460
Gene Name suppression inducing transmembrane adaptor 1
Synonyms Sit
MMRRC Submission 040432-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R2679 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 43482083-43483709 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43483157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 73 (Y73H)
Ref Sequence ENSEMBL: ENSMUSP00000030180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030180]
AlphaFold Q8C503
Predicted Effect probably damaging
Transcript: ENSMUST00000030180
AA Change: Y73H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030180
Gene: ENSMUSG00000028460
AA Change: Y73H

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123526
Meta Mutation Damage Score 0.1457 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 97% (67/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic2 A G 11: 81,042,780 (GRCm39) V171A probably benign Het
Atf7ip A T 6: 136,543,649 (GRCm39) I641L possibly damaging Het
Atrn G A 2: 130,803,595 (GRCm39) probably null Het
Bpifb4 T C 2: 153,790,544 (GRCm39) I145T probably damaging Het
Bub3 A G 7: 131,170,454 (GRCm39) probably null Het
Catsperb T A 12: 101,429,404 (GRCm39) D192E probably damaging Het
Ccdc178 G A 18: 21,944,613 (GRCm39) H849Y possibly damaging Het
Cd101 G T 3: 100,901,079 (GRCm39) Q998K probably benign Het
Cep135 A T 5: 76,772,507 (GRCm39) M631L probably benign Het
Cit T C 5: 116,107,174 (GRCm39) V1102A probably benign Het
Col4a4 G A 1: 82,507,332 (GRCm39) T249M unknown Het
Cpne6 A T 14: 55,753,786 (GRCm39) I415F possibly damaging Het
Cyp4b1 T C 4: 115,485,894 (GRCm39) I348V probably benign Het
Defb28 T C 2: 152,360,202 (GRCm39) S6P possibly damaging Het
Dhrs7b A G 11: 60,743,344 (GRCm39) probably benign Het
Dhx29 T C 13: 113,083,910 (GRCm39) probably null Het
Egfem1 A G 3: 29,724,825 (GRCm39) T476A probably benign Het
Enpp5 A G 17: 44,396,279 (GRCm39) D397G probably damaging Het
Eogt G A 6: 97,097,761 (GRCm39) T279I probably benign Het
Fnip2 G A 3: 79,388,233 (GRCm39) H833Y probably benign Het
Gabrr2 A T 4: 33,071,435 (GRCm39) T92S probably damaging Het
Gm10110 T A 14: 90,134,852 (GRCm39) noncoding transcript Het
Gria2 A G 3: 80,648,260 (GRCm39) probably benign Het
Hmcn1 G T 1: 150,528,326 (GRCm39) T3274N possibly damaging Het
Hnrnpul1 C T 7: 25,426,300 (GRCm39) R517Q probably damaging Het
Hspa1b T C 17: 35,176,279 (GRCm39) K569E probably benign Het
Ighv1-82 T C 12: 115,916,372 (GRCm39) Y46C probably damaging Het
Itga3 A T 11: 94,959,136 (GRCm39) probably benign Het
Lrrc7 T A 3: 157,880,745 (GRCm39) R552* probably null Het
Med13 A G 11: 86,189,403 (GRCm39) S1169P probably benign Het
Muc4 T A 16: 32,577,846 (GRCm39) D2374E unknown Het
Myl9 T A 2: 156,622,426 (GRCm39) L70Q probably damaging Het
Nebl C T 2: 17,429,402 (GRCm39) S243N probably benign Het
Nfat5 A G 8: 108,071,546 (GRCm39) Y314C probably damaging Het
Nr2f6 T A 8: 71,827,380 (GRCm39) D307V probably damaging Het
Nrp2 T C 1: 62,824,237 (GRCm39) S781P probably benign Het
Nub1 C T 5: 24,897,923 (GRCm39) T103I possibly damaging Het
Or4b1d A T 2: 89,968,889 (GRCm39) V198D possibly damaging Het
Or51h5 T A 7: 102,577,238 (GRCm39) Y134* probably null Het
Pex5l A T 3: 33,136,201 (GRCm39) M6K probably benign Het
Pgm3 A C 9: 86,451,374 (GRCm39) C93W probably benign Het
Pkhd1 A G 1: 20,279,406 (GRCm39) S2971P probably benign Het
Pkhd1l1 T C 15: 44,408,782 (GRCm39) L2423P probably damaging Het
Prkce A G 17: 86,483,654 (GRCm39) probably benign Het
Ptbp3 A G 4: 59,494,615 (GRCm39) probably benign Het
Ptgis T A 2: 167,050,113 (GRCm39) M339L probably benign Het
Pxdn T C 12: 30,025,568 (GRCm39) probably benign Het
Rab44 T A 17: 29,363,451 (GRCm39) probably null Het
Ric1 A G 19: 29,581,430 (GRCm39) S1275G probably benign Het
Rnf213 C A 11: 119,350,764 (GRCm39) probably null Het
Rtn4rl1 A T 11: 75,156,552 (GRCm39) E328V probably benign Het
Saraf C T 8: 34,632,428 (GRCm39) T169I probably damaging Het
Sbk2 T A 7: 4,960,119 (GRCm39) probably null Het
Setd1a T G 7: 127,394,896 (GRCm39) probably benign Het
Slc44a4 T C 17: 35,142,399 (GRCm39) probably benign Het
Spopfm1 A T 3: 94,173,217 (GRCm39) Y75F probably damaging Het
Tas2r125 A G 6: 132,887,190 (GRCm39) T193A probably benign Het
Tbc1d9b T A 11: 50,052,528 (GRCm39) probably null Het
Tcf7l1 G T 6: 72,604,403 (GRCm39) H580Q probably benign Het
Tead1 T G 7: 112,456,053 (GRCm39) S115A probably damaging Het
Top2b G A 14: 16,413,947 (GRCm38) G29D probably damaging Het
Trpv4 A T 5: 114,773,613 (GRCm39) C250S probably damaging Het
U2surp A C 9: 95,358,285 (GRCm39) I655S possibly damaging Het
Ube2a G A X: 36,138,360 (GRCm39) probably benign Het
Ubl7 A G 9: 57,821,882 (GRCm39) D77G probably damaging Het
Vmn1r91 T C 7: 19,835,983 (GRCm39) C301R probably damaging Het
Vmn2r90 A T 17: 17,933,131 (GRCm39) R230S possibly damaging Het
Wdfy3 T A 5: 102,017,902 (GRCm39) E2560V probably damaging Het
Zfp273 C T 13: 67,973,895 (GRCm39) A341V probably benign Het
Zfp512 C T 5: 31,622,798 (GRCm39) A33V 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
R2885:Sit1 UTSW 4 43,483,314 (GRCm39) missense possibly damaging 0.93
R2886: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'- ACCTTGGTTCTTGAGACAGC -3'
(R):5'- CCCTCTTAGGAGTTGTGACG -3'

Sequencing Primer
(F):5'- TTGGTTCTTGAGACAGCCGACC -3'
(R):5'- GTGACGGTGCTGCTTCTCATC -3'
Posted On 2014-12-04