Incidental Mutation 'R4376:Steep1'
ID 325123
Institutional Source Beutler Lab
Gene Symbol Steep1
Ensembl Gene ENSMUSG00000006423
Gene Name STING1 ER exit protein 1
Synonyms C330007P06Rik
MMRRC Submission 041120-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.504) question?
Stock # R4376 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 36087388-36127956 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36087812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 206 (C206F)
Ref Sequence ENSEMBL: ENSMUSP00000110904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115249]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000115249
AA Change: C206F

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000110904
Gene: ENSMUSG00000006423
AA Change: C206F

DomainStartEndE-ValueType
low complexity region 158 177 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele exhibit abnormal midbrain-hindbrain boundary morphology and decreased forebrain size. A subset of male chimeras hemizygous for a different gene trapped allele exhibit embryonic growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,314,238 (GRCm39) S683P probably benign Het
Adgrg6 G A 10: 14,344,794 (GRCm39) T53M probably damaging Het
Atp10d T C 5: 72,454,318 (GRCm39) L189P probably damaging Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Eaf2 A G 16: 36,620,998 (GRCm39) L184P unknown Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fam83e A T 7: 45,373,317 (GRCm39) S228C probably damaging Het
Gon4l C A 3: 88,814,694 (GRCm39) P1888T probably benign Het
Kit T C 5: 75,801,159 (GRCm39) I515T probably benign Het
Kmt2c C T 5: 25,520,324 (GRCm39) V1929I probably benign Het
Marchf11 A G 15: 26,309,532 (GRCm39) E62G probably damaging Het
Mlh3 C A 12: 85,305,972 (GRCm39) R1175L probably benign Het
Mrps2 T C 2: 28,358,871 (GRCm39) S67P probably benign Het
Nlrp12 A G 7: 3,289,576 (GRCm39) L312P possibly damaging Het
Or13f5 A T 4: 52,826,195 (GRCm39) N266I possibly damaging Het
Or4c122 T C 2: 89,079,589 (GRCm39) R150G possibly damaging Het
Osbpl8 T A 10: 111,105,280 (GRCm39) I245N possibly damaging Het
Pank1 C T 19: 34,855,104 (GRCm39) V4I probably benign Het
Pdia4 G A 6: 47,775,326 (GRCm39) R495W probably damaging Het
Pfn4 T A 12: 4,820,182 (GRCm39) D10E probably damaging Het
Plce1 T C 19: 38,693,891 (GRCm39) probably null Het
Pole T A 5: 110,485,071 (GRCm39) I395K possibly damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Prcc A G 3: 87,774,714 (GRCm39) Y363H probably damaging Het
Rictor T C 15: 6,816,448 (GRCm39) V1240A probably benign Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tsnaxip1 C A 8: 106,568,433 (GRCm39) C372* probably null Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Other mutations in Steep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4375:Steep1 UTSW X 36,087,812 (GRCm39) missense probably benign 0.03
R4377:Steep1 UTSW X 36,087,812 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CGGCGAACGGTTTCTGATTTC -3'
(R):5'- TGCTAACACTTGGAGGAAGG -3'

Sequencing Primer
(F):5'- CTATTGAGGTTTGAGCCTTTCC -3'
(R):5'- GGACCTTCCCACACACTCACTAG -3'
Posted On 2015-07-06