Incidental Mutation 'R7607:Stoml1'
ID 588380
Institutional Source Beutler Lab
Gene Symbol Stoml1
Ensembl Gene ENSMUSG00000032333
Gene Name stomatin-like 1
Synonyms 1810015E19Rik, WPB72, UNC-24, SLP-1
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R7607 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 58253164-58262520 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58256658 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 87 (R87G)
Ref Sequence ENSEMBL: ENSMUSP00000034883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034883] [ENSMUST00000215488] [ENSMUST00000216864] [ENSMUST00000216877] [ENSMUST00000217165]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034883
AA Change: R87G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034883
Gene: ENSMUSG00000032333
AA Change: R87G

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
PHB 77 237 7.08e-42 SMART
Pfam:SCP2 292 396 7.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215488
Predicted Effect probably benign
Transcript: ENSMUST00000216864
Predicted Effect probably benign
Transcript: ENSMUST00000216877
Predicted Effect probably benign
Transcript: ENSMUST00000217165
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (69/70)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene-trapped allele are viable and free of overt neurological phenotypes but show a mild, but specific, disinhibition of certain proton-gated currents in dorsal root ganglia neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010K14Rik A T 11: 70,237,557 H30Q probably damaging Het
1700012P22Rik T A 4: 144,419,762 H107L probably damaging Het
A930009A15Rik G A 10: 115,581,989 probably null Het
Abca7 T C 10: 80,011,833 L1779P probably damaging Het
Aff1 G A 5: 103,849,459 V1140I possibly damaging Het
Ano2 C T 6: 125,712,419 A169V probably damaging Het
Atat1 T C 17: 35,909,107 Y101C possibly damaging Het
Atp6v1c1 T C 15: 38,683,011 probably null Het
Atp7b T G 8: 22,011,506 K912T probably damaging Het
Ceacam14 T C 7: 17,814,321 V112A possibly damaging Het
Cobll1 T C 2: 65,095,857 N1119S probably benign Het
Csmd1 G T 8: 15,918,331 Q3099K possibly damaging Het
Cyp3a25 A G 5: 145,984,981 V381A possibly damaging Het
Dctn1 C T 6: 83,195,069 R948* probably null Het
Dhrs3 A G 4: 144,923,940 T219A probably benign Het
Epha7 C T 4: 28,871,937 S422L probably benign Het
Esrp1 A G 4: 11,384,449 V78A probably damaging Het
Evc2 A G 5: 37,386,856 T650A possibly damaging Het
Exoc6b T A 6: 84,989,409 K194N possibly damaging Het
Fer1l6 G A 15: 58,662,732 W1809* probably null Het
Frmd4a T A 2: 4,591,936 L156* probably null Het
Gk5 A T 9: 96,153,210 probably null Het
Gm3573 A G 14: 42,189,750 F8L probably benign Het
Gm906 T C 13: 50,250,260 E2G possibly damaging Het
Gm9767 G A 10: 26,078,940 C130Y unknown Het
Grip2 T C 6: 91,788,412 T30A probably benign Het
Gskip C A 12: 105,698,897 A65E possibly damaging Het
Gtf2e2 A G 8: 33,776,465 R259G probably benign Het
Gucy1b2 T A 14: 62,419,177 I244F probably damaging Het
Gxylt2 G T 6: 100,798,190 V357L possibly damaging Het
Hivep3 CGG CG 4: 120,097,911 1141 probably null Het
Igdcc4 C T 9: 65,133,758 P1024S possibly damaging Het
Ino80 A T 2: 119,382,269 probably null Het
Knl1 T C 2: 119,095,133 F1881S possibly damaging Het
Mbd6 T C 10: 127,285,230 E518G unknown Het
Mlh1 A G 9: 111,229,890 S689P probably damaging Het
Mmrn2 T C 14: 34,398,940 I589T possibly damaging Het
Mtmr12 C T 15: 12,257,708 Q291* probably null Het
Mup8 T A 4: 60,222,035 I33F probably benign Het
Mylk C T 16: 34,894,814 P504L probably benign Het
Ntrk3 C T 7: 78,250,873 A573T probably benign Het
Obscn G T 11: 58,998,265 S7560R unknown Het
Olfr24 A G 9: 18,754,882 F251S possibly damaging Het
Olfr617 A C 7: 103,584,930 T303P probably damaging Het
Pde1c T C 6: 56,150,628 T391A probably damaging Het
Pla2g4d T A 2: 120,288,976 H19L probably benign Het
Plce1 C A 19: 38,524,752 A165E probably benign Het
Polr1a T C 6: 71,913,021 S75P probably benign Het
Psg21 T C 7: 18,654,783 E128G probably benign Het
Radil A T 5: 142,494,795 M635K probably damaging Het
Radil A G 5: 142,506,613 I420T probably damaging Het
Rnase11 G A 14: 51,049,572 T175I probably damaging Het
Robo1 C T 16: 72,563,738 P13S Het
Slc18a2 C A 19: 59,284,358 A364D probably benign Het
Snph C T 2: 151,594,586 D141N probably damaging Het
Snrnp70 T C 7: 45,392,264 K70R possibly damaging Het
Snx33 T C 9: 56,926,713 D24G probably benign Het
Spag6 T A 2: 18,731,962 D165E possibly damaging Het
Spata31 T G 13: 64,921,592 L518R probably damaging Het
Sspo G A 6: 48,489,727 V4059M probably damaging Het
St6galnac2 T C 11: 116,679,979 Y261C probably damaging Het
Suv39h2 T C 2: 3,474,829 T40A unknown Het
Terb2 G T 2: 122,186,475 G26W probably damaging Het
Tmem62 T C 2: 120,996,440 I406T probably benign Het
Tnfrsf11a G A 1: 105,844,732 V582I probably benign Het
Tpsg1 G T 17: 25,373,210 G86V probably damaging Het
Unc13c T C 9: 73,669,535 D1480G probably damaging Het
Urb1 CACTTAC CAC 16: 90,772,573 probably benign Het
Vmn1r48 C A 6: 90,035,980 V288L probably benign Het
Vmn2r13 A G 5: 109,173,640 V397A probably damaging Het
Vmn2r98 A G 17: 19,067,308 N468D possibly damaging Het
Zfhx2 G T 14: 55,066,231 T1432K possibly damaging Het
Zswim5 T A 4: 116,986,742 D992E possibly damaging Het
Other mutations in Stoml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Stoml1 APN 9 58256713 missense probably damaging 0.96
IGL02693:Stoml1 APN 9 58257076 missense probably damaging 0.99
IGL03180:Stoml1 APN 9 58260917 missense probably damaging 1.00
R1464:Stoml1 UTSW 9 58260426 unclassified probably benign
R5632:Stoml1 UTSW 9 58253370 missense probably damaging 1.00
R5836:Stoml1 UTSW 9 58260840 missense probably benign
R6558:Stoml1 UTSW 9 58256668 missense probably damaging 1.00
R6652:Stoml1 UTSW 9 58256734 missense probably damaging 0.99
R6881:Stoml1 UTSW 9 58260894 missense probably damaging 1.00
R7006:Stoml1 UTSW 9 58260240 missense probably damaging 0.96
R9136:Stoml1 UTSW 9 58260953 missense possibly damaging 0.83
R9156:Stoml1 UTSW 9 58257126 missense
R9471:Stoml1 UTSW 9 58256685 missense probably damaging 1.00
X0020:Stoml1 UTSW 9 58260801 missense probably benign 0.08
X0058:Stoml1 UTSW 9 58257166 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CACAGGAAGTCCTTCACCTC -3'
(R):5'- CAGTTCACTATGCACAGGCC -3'

Sequencing Primer
(F):5'- GAAGTCCTTCACCTCATGGCAGAG -3'
(R):5'- ACTATGCACAGGCCTCATTTC -3'
Posted On 2019-10-24