Incidental Mutation 'R4375:Steep1'
ID 325088
Institutional Source Beutler Lab
Gene Symbol Steep1
Ensembl Gene ENSMUSG00000006423
Gene Name STING1 ER exit protein 1
Synonyms C330007P06Rik
MMRRC Submission 041119-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.504) question?
Stock # R4375 (G1)
Quality Score 222
Status 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: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (37/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A T 1: 9,631,853 (GRCm39) probably benign Het
Cd209c T C 8: 4,004,635 (GRCm39) noncoding transcript Het
Cntnap1 A G 11: 101,073,079 (GRCm39) D561G probably damaging Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Cyp4b1 T C 4: 115,493,510 (GRCm39) T191A probably benign Het
Dapk1 A T 13: 60,909,403 (GRCm39) M1339L probably benign Het
Dpm3 T C 3: 89,174,215 (GRCm39) Y59H probably damaging Het
Eif2ak4 A G 2: 118,258,405 (GRCm39) Y585C probably damaging Het
Ercc1 G A 7: 19,081,057 (GRCm39) probably benign Het
Fam184b T C 5: 45,699,685 (GRCm39) D577G probably benign Het
Gon4l C A 3: 88,814,694 (GRCm39) P1888T probably benign Het
Hsf2bp C T 17: 32,206,322 (GRCm39) D270N probably null Het
Lactbl1 T C 4: 136,364,902 (GRCm39) V418A possibly damaging Het
Lifr A T 15: 7,196,379 (GRCm39) M188L probably benign Het
Ltbp1 G T 17: 75,619,992 (GRCm39) G760V probably damaging Het
Marchf11 A G 15: 26,309,532 (GRCm39) E62G probably damaging Het
Nlrp12 A G 7: 3,289,576 (GRCm39) L312P possibly damaging Het
Or1l4 T A 2: 37,091,574 (GRCm39) M107K probably benign Het
Or52ae7 T C 7: 103,119,278 (GRCm39) S11P probably damaging Het
Or8c20 T C 9: 38,260,465 (GRCm39) F23L probably benign Het
Pcdh17 T C 14: 84,685,711 (GRCm39) V726A possibly damaging Het
Pdia4 G A 6: 47,775,326 (GRCm39) R495W probably damaging Het
Phf20l1 T C 15: 66,487,071 (GRCm39) S369P probably benign 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
Proser3 A G 7: 30,240,096 (GRCm39) V336A possibly damaging Het
Rbbp8 C T 18: 11,858,467 (GRCm39) T646M probably benign Het
Rgs1 T C 1: 144,123,644 (GRCm39) T94A probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Snx9 G A 17: 5,958,901 (GRCm39) W292* probably null Het
St14 T C 9: 31,001,754 (GRCm39) I784V probably benign Het
Strc A G 2: 121,211,304 (GRCm39) S14P unknown Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ubap1 G A 4: 41,371,850 (GRCm39) probably null Het
Zfr T C 15: 12,118,426 (GRCm39) probably null Het
Other mutations in Steep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4376: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