Incidental Mutation 'R5272:Smlr1'
ID 400425
Institutional Source Beutler Lab
Gene Symbol Smlr1
Ensembl Gene ENSMUSG00000096546
Gene Name small leucine-rich protein 1
Synonyms 2010003K15Rik
MMRRC Submission 042836-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5272 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 25403841-25412165 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25411925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 21 (I21V)
Ref Sequence ENSEMBL: ENSMUSP00000136316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179685]
AlphaFold J3QMJ4
Predicted Effect probably benign
Transcript: ENSMUST00000179685
AA Change: I21V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000136316
Gene: ENSMUSG00000096546
AA Change: I21V

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191547
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A G 3: 32,772,759 (GRCm39) E245G probably damaging Het
Arsb A T 13: 93,930,670 (GRCm39) T213S possibly damaging Het
Cep152 G A 2: 125,452,950 (GRCm39) T374I probably benign Het
Crx C T 7: 15,602,210 (GRCm39) C156Y probably damaging Het
Csmd1 T A 8: 16,249,958 (GRCm39) T1007S probably damaging Het
Cyp19a1 A T 9: 54,083,898 (GRCm39) C164S probably benign Het
Ddx55 A T 5: 124,696,092 (GRCm39) I137F possibly damaging Het
Dgkg C A 16: 22,407,044 (GRCm39) probably null Het
Dicer1 A G 12: 104,670,499 (GRCm39) I1022T probably damaging Het
Dis3l2 T C 1: 86,901,126 (GRCm39) V439A possibly damaging Het
Dnah5 T C 15: 28,350,811 (GRCm39) V2611A probably benign Het
Dnah6 A G 6: 73,104,844 (GRCm39) probably null Het
Ercc6 A T 14: 32,240,985 (GRCm39) K170* probably null Het
Fibcd1 A T 2: 31,706,635 (GRCm39) C399S probably damaging Het
Fibcd1 G T 2: 31,706,636 (GRCm39) N398K probably damaging Het
Fnbp4 G A 2: 90,583,459 (GRCm39) M327I probably benign Het
Fryl A T 5: 73,222,479 (GRCm39) L256* probably null Het
Galr1 T A 18: 82,423,761 (GRCm39) Y172F probably benign Het
Gpi1 T C 7: 33,920,115 (GRCm39) N186S probably damaging Het
Kcnh8 A G 17: 53,212,043 (GRCm39) I614V probably damaging Het
Krt23 A T 11: 99,369,099 (GRCm39) I398N probably damaging Het
Mia3 G A 1: 183,109,125 (GRCm39) R656* probably null Het
Mup6 G C 4: 60,005,922 (GRCm39) G138A probably damaging Het
Nectin3 A G 16: 46,268,839 (GRCm39) V521A possibly damaging Het
Nhsl3 T C 4: 129,118,005 (GRCm39) T208A possibly damaging Het
Nphs1 A G 7: 30,181,067 (GRCm39) E1096G possibly damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Panx1 C T 9: 14,956,152 (GRCm39) probably null Het
Pcdhb4 A G 18: 37,440,819 (GRCm39) Y43C probably benign Het
Plbd1 A G 6: 136,617,156 (GRCm39) Y62H probably damaging Het
Rab40b A G 11: 121,248,134 (GRCm39) V190A probably damaging Het
Ryr3 T C 2: 112,483,558 (GRCm39) E4063G probably damaging Het
Tenm4 T A 7: 96,523,410 (GRCm39) Y1614N probably damaging Het
Tesmin C A 19: 3,456,992 (GRCm39) A257E probably damaging Het
Tgif1 A G 17: 71,153,249 (GRCm39) L34P probably damaging Het
Ticrr C A 7: 79,319,353 (GRCm39) T446K probably benign Het
Tmc7 A G 7: 118,160,276 (GRCm39) I187T probably benign Het
Tpst2 T A 5: 112,455,818 (GRCm39) V119E probably damaging Het
Trf A T 9: 103,105,177 (GRCm39) M45K probably damaging Het
Trim45 T C 3: 100,837,235 (GRCm39) C524R probably damaging Het
Ttc27 G A 17: 75,049,972 (GRCm39) V293I probably damaging Het
Ugt1a6b C T 1: 88,034,949 (GRCm39) R96C possibly damaging Het
Vit A G 17: 78,894,264 (GRCm39) Q222R probably benign Het
Zfp148 T A 16: 33,316,594 (GRCm39) V380D probably damaging Het
Other mutations in Smlr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1528:Smlr1 UTSW 10 25,411,976 (GRCm39) missense possibly damaging 0.46
R8138:Smlr1 UTSW 10 25,411,939 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CGTTCATCAAGAAAGGGCTGG -3'
(R):5'- AGCGCTCCAGTATTCACTCC -3'

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