Incidental Mutation 'IGL01702:Smtnl1'
ID104496
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smtnl1
Ensembl Gene ENSMUSG00000027077
Gene Namesmoothelin-like 1
SynonymsChasm, 1110030K22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01702
Quality Score
Status
Chromosome2
Chromosomal Location84811176-84822652 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84818690 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 73 (I73M)
Ref Sequence ENSEMBL: ENSMUSP00000028471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028471]
PDB Structure
The Solution Structure of Calponin Homology Domain from Smoothelin-like 1 [SOLUTION NMR]
HADDOCK-derived structure of the CH-domain of the smoothelin-like 1 complexed with the C-domain of apocalmodulin [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028471
AA Change: I73M

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028471
Gene: ENSMUSG00000027077
AA Change: I73M

DomainStartEndE-ValueType
low complexity region 56 72 N/A INTRINSIC
coiled coil region 124 154 N/A INTRINSIC
low complexity region 218 230 N/A INTRINSIC
low complexity region 236 246 N/A INTRINSIC
low complexity region 260 285 N/A INTRINSIC
CH 345 444 5.55e-18 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the contraction of both striated and smooth muscle. During pregnancy, the encoded protein interacts with progesterone receptor to attenuate the expression of contractile and metabolic proteins. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit vascular and muscular adaptations normally found in exercised animals as well as increased exercise endurance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7a T C 15: 77,389,686 probably null Het
Asb2 C T 12: 103,335,905 G128E possibly damaging Het
Atp11c A T X: 60,269,903 S683T probably damaging Het
Brinp3 A G 1: 146,751,997 probably benign Het
Cpeb3 A T 19: 37,126,382 M369K possibly damaging Het
Exoc5 A T 14: 49,015,615 C580* probably null Het
Gm9956 A G 10: 56,745,239 Het
Gzmk C T 13: 113,180,550 V32I probably damaging Het
Hsf4 T C 8: 105,271,589 I129T probably damaging Het
Igkv1-115 T A 6: 68,161,532 W40R probably damaging Het
Iqub A T 6: 24,500,313 M314K probably benign Het
Krt83 T C 15: 101,491,218 T78A probably benign Het
Med28 T C 5: 45,525,291 S100P probably benign Het
Prx G A 7: 27,519,787 V1238I probably benign Het
Ptprq T C 10: 107,517,866 N2263S probably benign Het
Rab12 A G 17: 66,519,389 F61S probably damaging Het
Serpinb9d T C 13: 33,203,023 F358S probably damaging Het
Slc25a3 A T 10: 91,118,125 Y242N probably damaging Het
Tnp1 C A 1: 73,015,718 probably benign Het
Trim5 T C 7: 104,279,431 E101G probably damaging Het
Other mutations in Smtnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Smtnl1 APN 2 84818887 missense probably benign
IGL01836:Smtnl1 APN 2 84815370 missense probably damaging 1.00
IGL01866:Smtnl1 APN 2 84818745 missense possibly damaging 0.80
IGL01869:Smtnl1 APN 2 84811397 makesense probably null
IGL01989:Smtnl1 APN 2 84818470 missense probably benign 0.22
IGL02247:Smtnl1 APN 2 84817028 splice site probably benign
R1442:Smtnl1 UTSW 2 84818436 missense probably damaging 0.97
R4577:Smtnl1 UTSW 2 84818443 missense possibly damaging 0.50
R5340:Smtnl1 UTSW 2 84815441 missense probably damaging 1.00
R5524:Smtnl1 UTSW 2 84818894 missense probably benign 0.05
R5561:Smtnl1 UTSW 2 84818395 missense probably benign 0.31
R5631:Smtnl1 UTSW 2 84818754 missense probably benign
R5997:Smtnl1 UTSW 2 84815378 missense probably damaging 1.00
R6050:Smtnl1 UTSW 2 84811453 missense probably damaging 1.00
R6433:Smtnl1 UTSW 2 84818368 missense probably benign 0.03
R7011:Smtnl1 UTSW 2 84818409 missense probably benign 0.01
R8390:Smtnl1 UTSW 2 84815350 nonsense probably null
R8406:Smtnl1 UTSW 2 84818398 missense probably benign 0.01
Posted On2014-01-21