Incidental Mutation 'R0829:Stimate'
ID 78440
Institutional Source Beutler Lab
Gene Symbol Stimate
Ensembl Gene ENSMUSG00000006526
Gene Name STIM activating enhancer
Synonyms 2310014H19Rik, 1810038N08Rik, Tmem110
MMRRC Submission 039009-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0829 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 30547547-30599167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30584842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 56 (R56C)
Ref Sequence ENSEMBL: ENSMUSP00000154178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006701] [ENSMUST00000227246] [ENSMUST00000228066]
AlphaFold Q3UF25
Predicted Effect probably damaging
Transcript: ENSMUST00000006701
AA Change: R56C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006701
Gene: ENSMUSG00000006526
AA Change: R56C

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
transmembrane domain 67 89 N/A INTRINSIC
Pfam:DUF3661 100 219 4.6e-36 PFAM
low complexity region 247 273 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164184
Predicted Effect probably damaging
Transcript: ENSMUST00000227246
AA Change: R56C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227776
Predicted Effect probably benign
Transcript: ENSMUST00000228066
Meta Mutation Damage Score 0.8725 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 95% (37/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the neighboring TMEM110 (transmembrane protein 110) and MUSTN1 (musculoskeletal, embryonic nuclear protein 1) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprh C A 16: 38,266,150 (GRCm39) A331S probably benign Het
Atp4b T G 8: 13,440,098 (GRCm39) T83P probably damaging Het
Ccdc177 T C 12: 80,806,253 (GRCm39) E7G probably damaging Het
Cercam G T 2: 29,761,079 (GRCm39) R126L probably damaging Het
Cpb1 C T 3: 20,306,107 (GRCm39) probably benign Het
Dnah7a T C 1: 53,543,238 (GRCm39) M2311V probably benign Het
Dnah9 C A 11: 65,896,002 (GRCm39) V2458L probably benign Het
Dnajb6 T C 5: 29,990,020 (GRCm39) probably benign Het
Dst A G 1: 34,202,301 (GRCm39) T210A probably damaging Het
Gfpt1 T C 6: 87,030,847 (GRCm39) probably benign Het
Grin1 C T 2: 25,188,460 (GRCm39) D429N probably benign Het
Iqck T C 7: 118,499,111 (GRCm39) probably null Het
Itgb5 A G 16: 33,764,571 (GRCm39) I359V probably benign Het
Lemd3 T C 10: 120,814,988 (GRCm39) T82A probably benign Het
Lrrc74b A G 16: 17,376,254 (GRCm39) probably benign Het
Mitf A T 6: 97,980,869 (GRCm39) I246F possibly damaging Het
Msgn1 C T 12: 11,258,525 (GRCm39) R142Q probably damaging Het
Myh8 C A 11: 67,174,326 (GRCm39) probably benign Het
Nacad C A 11: 6,551,158 (GRCm39) V678L probably benign Het
Nomo1 A G 7: 45,725,596 (GRCm39) probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or1s2 T A 19: 13,758,556 (GRCm39) D191E probably damaging Het
Or4c100 A T 2: 88,356,572 (GRCm39) Y215F probably damaging Het
Or4l15 C A 14: 50,198,503 (GRCm39) V9L probably benign Het
Or6d13 A G 6: 116,518,226 (GRCm39) T271A probably benign Het
Pcdh15 T A 10: 74,338,598 (GRCm39) V1068E probably damaging Het
Plat A G 8: 23,262,273 (GRCm39) Y99C probably damaging Het
Potefam1 G A 2: 111,028,450 (GRCm39) T42I possibly damaging Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rbm25 T C 12: 83,707,150 (GRCm39) probably benign Het
Scaf11 T C 15: 96,316,570 (GRCm39) D998G probably damaging Het
Serpinb6a A G 13: 34,119,684 (GRCm39) probably benign Het
Spef2 T C 15: 9,687,899 (GRCm39) I507M probably benign Het
Srebf2 T A 15: 82,061,790 (GRCm39) probably null Het
Tert T C 13: 73,792,504 (GRCm39) C924R probably damaging Het
Usp19 T C 9: 108,371,000 (GRCm39) S221P probably benign Het
Xkr4 C T 1: 3,741,469 (GRCm39) A35T possibly damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Other mutations in Stimate
AlleleSourceChrCoordTypePredicted EffectPPH Score
hayseed UTSW 14 30,584,842 (GRCm39) missense probably damaging 1.00
R1673:Stimate UTSW 14 30,586,391 (GRCm39) missense possibly damaging 0.81
R2128:Stimate UTSW 14 30,588,581 (GRCm39) missense probably damaging 1.00
R2497:Stimate UTSW 14 30,594,537 (GRCm39) missense probably damaging 1.00
R3508:Stimate UTSW 14 30,594,537 (GRCm39) missense probably damaging 1.00
R4608:Stimate UTSW 14 30,594,490 (GRCm39) intron probably benign
R5242:Stimate UTSW 14 30,547,793 (GRCm39) missense probably damaging 1.00
R5586:Stimate UTSW 14 30,592,776 (GRCm39) missense probably damaging 1.00
R6612:Stimate UTSW 14 30,593,521 (GRCm39) splice site probably null
R8859:Stimate UTSW 14 30,588,629 (GRCm39) missense probably damaging 1.00
R9297:Stimate UTSW 14 30,588,639 (GRCm39) missense probably damaging 1.00
R9318:Stimate UTSW 14 30,588,639 (GRCm39) missense probably damaging 1.00
R9428:Stimate UTSW 14 30,594,645 (GRCm39) missense probably benign
R9502:Stimate UTSW 14 30,593,463 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCAGTGCAGGCTCTCTGTAATCTTC -3'
(R):5'- AACGGCTTCATCTAGCCATTCACTC -3'

Sequencing Primer
(F):5'- TTCACTGAGCAAAATATGCTGCC -3'
(R):5'- TCTTCCAGCACTGAGAGCAG -3'
Posted On 2013-10-16