Incidental Mutation 'R6291:Stoml3'
ID 508401
Institutional Source Beutler Lab
Gene Symbol Stoml3
Ensembl Gene ENSMUSG00000027744
Gene Name stomatin (Epb7.2)-like 3
Synonyms SRO, SLP3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R6291 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 53396074-53415923 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53414937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 243 (L243P)
Ref Sequence ENSEMBL: ENSMUSP00000029307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029307]
AlphaFold Q6PE84
Predicted Effect probably damaging
Transcript: ENSMUST00000029307
AA Change: L243P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029307
Gene: ENSMUSG00000027744
AA Change: L243P

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
PHB 45 204 3.56e-56 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198286
Meta Mutation Damage Score 0.9522 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 98% (86/88)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display loss of mechanoreceptor function and impaired tactile-driven behaviors. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Gene trapped(1)

Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C T 8: 87,293,173 (GRCm39) G5D possibly damaging Het
Adamts9 T C 6: 92,867,101 (GRCm39) K95R probably damaging Het
Adap1 G T 5: 139,259,246 (GRCm39) L314M probably benign Het
Alkbh1 T A 12: 87,475,864 (GRCm39) E306V possibly damaging Het
Alpk2 T A 18: 65,438,972 (GRCm39) D1274V possibly damaging Het
Ankrd31 A C 13: 97,014,746 (GRCm39) K1188N possibly damaging Het
Aox1 T A 1: 58,369,965 (GRCm39) M759K probably damaging Het
Atp13a3 T A 16: 30,155,061 (GRCm39) D961V probably damaging Het
Bcl11a G A 11: 24,108,321 (GRCm39) G100R probably damaging Het
Bpifc G A 10: 85,812,122 (GRCm39) A362V probably damaging Het
Btaf1 C T 19: 36,950,408 (GRCm39) T546I probably benign Het
Casd1 C A 6: 4,619,834 (GRCm39) P193Q probably damaging Het
Cdhr1 T C 14: 36,811,422 (GRCm39) T230A probably benign Het
Celsr3 T G 9: 108,706,041 (GRCm39) D841E probably damaging Het
Cenpj T C 14: 56,789,433 (GRCm39) D872G probably benign Het
Cep95 G T 11: 106,706,422 (GRCm39) A559S probably damaging Het
Chpt1 A T 10: 88,311,306 (GRCm39) C62* probably null Het
Cspg4b T A 13: 113,456,981 (GRCm39) I1009N possibly damaging Het
Cspp1 A G 1: 10,134,559 (GRCm39) K103R probably damaging Het
Ctla4 T C 1: 60,951,837 (GRCm39) V122A probably benign Het
Cyp3a11 A G 5: 145,799,237 (GRCm39) F317L possibly damaging Het
Daam1 T C 12: 71,993,025 (GRCm39) L338P unknown Het
Dcc T A 18: 71,815,238 (GRCm39) I379L probably benign Het
Dennd2c C A 3: 103,038,925 (GRCm39) C24* probably null Het
Dnai3 G A 3: 145,772,648 (GRCm39) S466L probably benign Het
Dnajc12 A G 10: 63,233,053 (GRCm39) I65V probably benign Het
Dock3 T A 9: 106,785,631 (GRCm39) M208L probably benign Het
Dsg1b T C 18: 20,537,848 (GRCm39) I588T possibly damaging Het
Eif1b T C 9: 120,323,206 (GRCm39) L22S probably benign Het
Ep300 T A 15: 81,532,708 (GRCm39) S1649T unknown Het
Eps15 CAAA CAA 4: 109,162,900 (GRCm39) probably null Het
Ercc6 A T 14: 32,291,943 (GRCm39) E1102D probably benign Het
Gsdmc3 T C 15: 63,732,090 (GRCm39) N312S probably benign Het
Guca2b A T 4: 119,514,890 (GRCm39) L57Q probably damaging Het
Heatr5b G T 17: 79,069,526 (GRCm39) H1740Q probably benign Het
Hecw1 G A 13: 14,697,592 (GRCm39) probably benign Het
Icam5 A G 9: 20,948,217 (GRCm39) H675R probably benign Het
Il18rap T C 1: 40,564,049 (GRCm39) F56L probably benign Het
Iqgap3 T A 3: 87,997,037 (GRCm39) probably null Het
Itsn1 T C 16: 91,664,984 (GRCm39) probably benign Het
Jakmip3 A T 7: 138,622,585 (GRCm39) D315V probably damaging Het
Kif24 A G 4: 41,413,959 (GRCm39) Y328H probably damaging Het
Kmt2a A T 9: 44,744,171 (GRCm39) probably benign Het
Kng1 A G 16: 22,898,475 (GRCm39) E625G probably damaging Het
Man2b1 C T 8: 85,823,675 (GRCm39) T973I probably benign Het
Masp2 G A 4: 148,687,210 (GRCm39) V31M probably damaging Het
Myo18b C T 5: 113,013,601 (GRCm39) R785H possibly damaging Het
Naa15 G A 3: 51,350,212 (GRCm39) G103D probably damaging Het
Or4f15 A G 2: 111,813,969 (GRCm39) V150A probably benign Het
Or5m11b A G 2: 85,805,926 (GRCm39) Y113C probably damaging Het
Or7e177 T A 9: 20,211,899 (GRCm39) D134E probably damaging Het
Papln A G 12: 83,829,789 (GRCm39) N970S probably benign Het
Pick1 T A 15: 79,135,928 (GRCm39) probably null Het
Pigr A C 1: 130,769,498 (GRCm39) D103A probably benign Het
Plekhf1 A C 7: 37,921,029 (GRCm39) F180V possibly damaging Het
Plxnc1 A G 10: 94,669,504 (GRCm39) probably null Het
Polr3f A G 2: 144,376,308 (GRCm39) I136V probably damaging Het
Ppp2r2c T C 5: 37,097,468 (GRCm39) M218T possibly damaging Het
Prox2 C T 12: 85,136,420 (GRCm39) V466I probably damaging Het
Prrc2a G A 17: 35,373,909 (GRCm39) L1479F probably damaging Het
Rbm24 T A 13: 46,575,313 (GRCm39) probably null Het
Rcc1l A T 5: 134,195,560 (GRCm39) probably null Het
Ripk4 A C 16: 97,556,323 (GRCm39) L140R probably damaging Het
Rmnd1 A T 10: 4,372,135 (GRCm39) L188Q probably damaging Het
Rnf170 C T 8: 26,630,992 (GRCm39) P249S probably damaging Het
Rras A G 7: 44,667,595 (GRCm39) probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Scn7a T A 2: 66,530,458 (GRCm39) D629V probably damaging Het
Sipa1l3 A G 7: 29,087,558 (GRCm39) S556P probably damaging Het
Smarca2 C T 19: 26,608,292 (GRCm39) A117V probably damaging Het
Snca C T 6: 60,792,702 (GRCm39) A69T probably damaging Het
Snx2 T C 18: 53,342,737 (GRCm39) probably null Het
Spp1 T A 5: 104,587,242 (GRCm39) S109T possibly damaging Het
Susd2 A G 10: 75,473,408 (GRCm39) F789L possibly damaging Het
Sycp1 A G 3: 102,816,277 (GRCm39) M419T probably damaging Het
Thoc1 T C 18: 9,993,330 (GRCm39) V563A probably benign Het
Tmprss11g T C 5: 86,635,281 (GRCm39) I398V probably damaging Het
Tox3 A G 8: 90,975,566 (GRCm39) L355P probably damaging Het
Tpp1 A G 7: 105,396,223 (GRCm39) I492T probably benign Het
Trim21 A T 7: 102,213,289 (GRCm39) L3Q probably damaging Het
Ttn A C 2: 76,738,080 (GRCm39) V4153G probably benign Het
Ttn T C 2: 76,744,638 (GRCm39) probably benign Het
Unc80 A G 1: 66,560,756 (GRCm39) E828G possibly damaging Het
Vav3 A G 3: 109,416,170 (GRCm39) N263S possibly damaging Het
Vmn1r183 A C 7: 23,754,982 (GRCm39) T262P possibly damaging Het
Vmn2r67 G A 7: 84,799,142 (GRCm39) P522S possibly damaging Het
Vps35 T A 8: 86,026,086 (GRCm39) M1L probably benign Het
Xpo7 A T 14: 70,942,130 (GRCm39) L79* probably null Het
Zc3h14 G A 12: 98,726,087 (GRCm39) R324H probably damaging Het
Zfp330 T C 8: 83,499,613 (GRCm39) T6A probably damaging Het
Zfp948 T A 17: 21,807,286 (GRCm39) H159Q unknown Het
Other mutations in Stoml3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01733:Stoml3 APN 3 53,405,548 (GRCm39) missense probably benign 0.00
IGL02394:Stoml3 APN 3 53,405,540 (GRCm39) splice site probably benign
IGL02406:Stoml3 APN 3 53,410,671 (GRCm39) missense probably damaging 1.00
3-1:Stoml3 UTSW 3 53,405,396 (GRCm39) missense probably benign 0.00
D3080:Stoml3 UTSW 3 53,405,415 (GRCm39) missense probably benign 0.29
R0755:Stoml3 UTSW 3 53,405,559 (GRCm39) nonsense probably null
R1377:Stoml3 UTSW 3 53,415,062 (GRCm39) missense probably benign
R1702:Stoml3 UTSW 3 53,412,852 (GRCm39) missense probably benign 0.00
R1945:Stoml3 UTSW 3 53,412,866 (GRCm39) missense possibly damaging 0.86
R2155:Stoml3 UTSW 3 53,415,008 (GRCm39) missense probably damaging 1.00
R3890:Stoml3 UTSW 3 53,414,875 (GRCm39) missense probably damaging 1.00
R5048:Stoml3 UTSW 3 53,408,213 (GRCm39) missense possibly damaging 0.64
R5717:Stoml3 UTSW 3 53,412,937 (GRCm39) missense probably damaging 1.00
R6275:Stoml3 UTSW 3 53,414,927 (GRCm39) missense probably damaging 0.98
R7686:Stoml3 UTSW 3 53,410,589 (GRCm39) missense probably damaging 1.00
R9258:Stoml3 UTSW 3 53,405,397 (GRCm39) missense possibly damaging 0.95
R9293:Stoml3 UTSW 3 53,408,185 (GRCm39) missense possibly damaging 0.61
R9519:Stoml3 UTSW 3 53,405,402 (GRCm39) missense probably benign
Z1176:Stoml3 UTSW 3 53,410,647 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTTGCCAAGAACGTGAGCAGG -3'
(R):5'- TGGCTGACTTCTCCATGGTAC -3'

Sequencing Primer
(F):5'- CGTGAGCAGGGACAAACC -3'
(R):5'- TCAGGCTTTAGCAGTGAC -3'
Posted On 2018-03-15