Incidental Mutation 'R2497:Stimate'
ID 251106
Institutional Source Beutler Lab
Gene Symbol Stimate
Ensembl Gene ENSMUSG00000006526
Gene Name STIM activating enhancer
Synonyms 2310014H19Rik, 1810038N08Rik, Tmem110
MMRRC Submission 040411-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2497 (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 30594537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 217 (L217F)
Ref Sequence ENSEMBL: ENSMUSP00000006701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006701] [ENSMUST00000227246] [ENSMUST00000228066]
AlphaFold Q3UF25
Predicted Effect probably damaging
Transcript: ENSMUST00000006701
AA Change: L217F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006701
Gene: ENSMUSG00000006526
AA Change: L217F

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: ENSMUST00000164004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164184
Predicted Effect unknown
Transcript: ENSMUST00000164482
AA Change: P64L
SMART Domains Protein: ENSMUSP00000125796
Gene: ENSMUSG00000006526
AA Change: P64L

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226788
Predicted Effect probably benign
Transcript: ENSMUST00000227246
Predicted Effect unknown
Transcript: ENSMUST00000228066
AA Change: P64L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227776
Meta Mutation Damage Score 0.7408 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (60/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 A G 14: 8,251,612 (GRCm38) V295A probably benign Het
Agrn T C 4: 156,258,268 (GRCm39) E959G probably benign Het
Aqp5 T C 15: 99,489,180 (GRCm39) F10L possibly damaging Het
Arhgap39 C A 15: 76,609,585 (GRCm39) V1025L probably damaging Het
Atg4d C T 9: 21,184,682 (GRCm39) R459* probably null Het
Atp11b A G 3: 35,909,294 (GRCm39) S1163G probably damaging Het
Atp13a5 G T 16: 29,157,889 (GRCm39) S173* probably null Het
Atp6v1g2 T A 17: 35,455,762 (GRCm39) I8N probably damaging Het
Ccdc77 C T 6: 120,302,433 (GRCm39) G430R possibly damaging Het
Cdc34b A G 11: 94,633,207 (GRCm39) T136A probably benign Het
Cdkal1 A G 13: 29,658,524 (GRCm39) S23P unknown Het
Cdkl2 T A 5: 92,156,857 (GRCm39) H566L probably benign Het
Cers6 T C 2: 68,901,790 (GRCm39) probably benign Het
Cfap251 T C 5: 123,421,432 (GRCm39) V98A probably damaging Het
Clspn A G 4: 126,466,140 (GRCm39) T557A possibly damaging Het
Cmya5 T C 13: 93,234,513 (GRCm39) T192A possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dnah17 T G 11: 117,977,850 (GRCm39) probably null Het
Dnah8 C T 17: 30,960,339 (GRCm39) Q2239* probably null Het
Dscaml1 T C 9: 45,656,376 (GRCm39) V1572A probably benign Het
Elfn2 C G 15: 78,558,464 (GRCm39) E28Q probably damaging Het
Enam T A 5: 88,650,553 (GRCm39) N687K probably benign Het
Flywch1 G A 17: 23,974,685 (GRCm39) R652W probably benign Het
Gm5612 T C 9: 18,338,975 (GRCm39) probably benign Het
Hgsnat C T 8: 26,435,280 (GRCm39) W618* probably null Het
Mmp3 A G 9: 7,450,131 (GRCm39) T288A probably benign Het
Mtmr4 T A 11: 87,491,649 (GRCm39) F168L probably damaging Het
Mtres1 T C 10: 43,401,263 (GRCm39) probably benign Het
Myo1d T A 11: 80,565,647 (GRCm39) N393Y probably damaging Het
Nacc2 A T 2: 25,979,580 (GRCm39) Y285* probably null Het
Nf1 G T 11: 79,334,710 (GRCm39) G844V probably damaging Het
Nox4 T A 7: 86,945,084 (GRCm39) Y113* probably null Het
Pcdha3 T C 18: 37,080,556 (GRCm39) C433R probably benign Het
Pde6c A G 19: 38,142,142 (GRCm39) I358V probably damaging Het
Pdgfrb A T 18: 61,211,700 (GRCm39) D819V possibly damaging Het
Phf3 C A 1: 30,869,095 (GRCm39) R651L probably damaging Het
Prrx1 A G 1: 163,075,834 (GRCm39) V244A possibly damaging Het
Ptges C T 2: 30,782,722 (GRCm39) G110D possibly damaging Het
Rab27a T C 9: 72,992,263 (GRCm39) L97P probably damaging Het
Rnf20 G A 4: 49,652,676 (GRCm39) probably null Het
Sdad1 T C 5: 92,447,958 (GRCm39) N259S probably benign Het
Serpinb9d T C 13: 33,380,500 (GRCm39) S129P probably damaging Het
Slc1a4 T C 11: 20,282,620 (GRCm39) probably benign Het
Smyd2 T A 1: 189,617,534 (GRCm39) N300I possibly damaging Het
Snd1 A G 6: 28,888,078 (GRCm39) I875V probably benign Het
Ssh1 T C 5: 114,096,919 (GRCm39) N174S probably damaging Het
Tanc2 T C 11: 105,564,319 (GRCm39) probably null Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tpcn1 C T 5: 120,677,063 (GRCm39) probably null Het
Unc45b A T 11: 82,827,269 (GRCm39) I699F probably damaging Het
Uspl1 C T 5: 149,124,664 (GRCm39) P27L probably damaging Het
Ylpm1 C G 12: 85,043,535 (GRCm39) P91R probably damaging Het
Zdhhc23 G A 16: 43,794,278 (GRCm39) T132M probably damaging Het
Zfp148 T C 16: 33,316,755 (GRCm39) Y434H probably damaging Het
Zhx2 T C 15: 57,686,551 (GRCm39) V640A possibly damaging Het
Other mutations in Stimate
AlleleSourceChrCoordTypePredicted EffectPPH Score
hayseed UTSW 14 30,584,842 (GRCm39) missense probably damaging 1.00
R0829:Stimate 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
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'- GCAAGAATTACCCTGCTGTCC -3'
(R):5'- GGCACTGCGAATTCAGGTAC -3'

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