Incidental Mutation 'R5242:Stimate'
ID 400952
Institutional Source Beutler Lab
Gene Symbol Stimate
Ensembl Gene ENSMUSG00000006526
Gene Name STIM activating enhancer
Synonyms 2310014H19Rik, 1810038N08Rik, Tmem110
MMRRC Submission 042813-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5242 (G1)
Quality Score 89
Status Not validated
Chromosome 14
Chromosomal Location 30547547-30599167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30547793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 36 (F36I)
Ref Sequence ENSEMBL: ENSMUSP00000154178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006701] [ENSMUST00000054230] [ENSMUST00000227246] [ENSMUST00000228066]
AlphaFold Q3UF25
Predicted Effect probably damaging
Transcript: ENSMUST00000006701
AA Change: F36I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006701
Gene: ENSMUSG00000006526
AA Change: F36I

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 probably benign
Transcript: ENSMUST00000054230
SMART Domains Protein: ENSMUSP00000056744
Gene: ENSMUSG00000006527

DomainStartEndE-ValueType
MBT 20 120 2.04e-40 SMART
MBT 128 232 4.22e-33 SMART
MBT 242 346 4.42e-36 SMART
MBT 354 451 7.06e-44 SMART
Pfam:DUF3588 498 617 6.7e-43 PFAM
low complexity region 628 642 N/A INTRINSIC
low complexity region 659 669 N/A INTRINSIC
low complexity region 693 749 N/A INTRINSIC
SAM 790 856 1.12e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164482
AA Change: F36I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125796
Gene: ENSMUSG00000006526
AA Change: F36I

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000227246
AA Change: F36I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000228066
AA Change: F36I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T C 8: 84,657,711 (GRCm39) V439A possibly damaging Het
Aldh6a1 A G 12: 84,483,157 (GRCm39) V390A probably damaging Het
Alox5 T C 6: 116,437,927 (GRCm39) D20G probably damaging Het
Atp2a2 A T 5: 122,600,009 (GRCm39) F487I probably damaging Het
BC048679 G A 7: 81,145,091 (GRCm39) T84M probably damaging Het
C2cd3 T C 7: 100,039,373 (GRCm39) S191P probably benign Het
Cdh6 A G 15: 13,064,497 (GRCm39) V131A probably benign Het
Chrna9 A G 5: 66,134,423 (GRCm39) T425A probably benign Het
Cplane2 T C 4: 140,947,158 (GRCm39) Y180H probably damaging Het
Ddx39a A G 8: 84,448,440 (GRCm39) S231G probably benign Het
Diaph1 C T 18: 37,984,688 (GRCm39) G1176R probably damaging Het
Dnah10 G T 5: 124,864,484 (GRCm39) V2230L probably benign Het
Foxo1 T C 3: 52,176,676 (GRCm39) S152P probably damaging Het
Fras1 T A 5: 96,805,109 (GRCm39) D1250E probably benign Het
G6pd2 A G 5: 61,966,785 (GRCm39) I187V probably benign Het
Gm10113 T C 13: 46,330,992 (GRCm39) noncoding transcript Het
Hoxd1 A G 2: 74,593,792 (GRCm39) D116G probably damaging Het
Igkv13-85 A T 6: 68,907,544 (GRCm39) I19K probably benign Het
Jag2 C T 12: 112,880,486 (GRCm39) V288M probably damaging Het
Ndrg2 A G 14: 52,148,541 (GRCm39) probably null Het
Neurl3 G A 1: 36,308,501 (GRCm39) Q104* probably null Het
Nudt16l1 C T 16: 4,757,485 (GRCm39) R133W probably damaging Het
Oasl2 A T 5: 115,043,122 (GRCm39) Q298L possibly damaging Het
Or3a10 A T 11: 73,935,848 (GRCm39) M84K possibly damaging Het
Or51a25 C T 7: 102,373,483 (GRCm39) M71I probably benign Het
Pnma2 C A 14: 67,153,746 (GRCm39) Q57K probably benign Het
Pramel22 A T 4: 143,382,181 (GRCm39) L172I probably benign Het
Rps7 T A 12: 28,681,136 (GRCm39) E188D probably benign Het
Rrp1b T C 17: 32,270,677 (GRCm39) V212A possibly damaging Het
Serpina9 C A 12: 103,974,644 (GRCm39) A170S probably benign Het
Shmt2 C T 10: 127,354,789 (GRCm39) V299I probably benign Het
Siae C T 9: 37,556,148 (GRCm39) P435S probably damaging Het
Smarcal1 T C 1: 72,630,242 (GRCm39) S99P probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Tas2r124 T C 6: 132,732,503 (GRCm39) Y271H possibly damaging Het
Thsd7a A T 6: 12,327,582 (GRCm39) I1430K probably damaging Het
Trmt9b A G 8: 36,979,084 (GRCm39) K229R probably benign Het
Tsc22d2 T A 3: 58,323,360 (GRCm39) V84E possibly damaging Het
Ube2s C T 7: 4,813,434 (GRCm39) R110Q possibly damaging Het
Usp3 C T 9: 66,434,432 (GRCm39) C283Y probably damaging Het
Vmn2r81 T A 10: 79,129,309 (GRCm39) Y733* probably null Het
Wdr75 T A 1: 45,856,487 (GRCm39) C503* probably null Het
Zfp764 T C 7: 127,004,541 (GRCm39) M197V probably benign 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
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
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'- AAGCTCTACGATCTCGGACGTC -3'
(R):5'- GTCTCGAATAACCAGCACCGTC -3'

Sequencing Primer
(F):5'- ATCTCGGACGTCGGGTTAC -3'
(R):5'- TAACCAGCACCGTCTCGCG -3'
Posted On 2016-07-06