Incidental Mutation 'IGL01135:Smtnl1'
ID 50597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smtnl1
Ensembl Gene ENSMUSG00000027077
Gene Name smoothelin-like 1
Synonyms Chasm, 1110030K22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01135
Quality Score
Status
Chromosome 2
Chromosomal Location 84641520-84652996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84649231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 8 (S8P)
Ref Sequence ENSEMBL: ENSMUSP00000028471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028471]
AlphaFold Q99LM3
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 probably benign
Transcript: ENSMUST00000028471
AA Change: S8P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028471
Gene: ENSMUSG00000027077
AA Change: S8P

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
5730507C01Rik G A 12: 18,583,375 (GRCm39) R145H possibly damaging Het
Acox3 T A 5: 35,746,096 (GRCm39) V93E probably benign Het
Ankar T C 1: 72,704,378 (GRCm39) N848S probably benign Het
Blzf1 A G 1: 164,131,499 (GRCm39) probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ceacam23 A T 7: 17,636,396 (GRCm39) noncoding transcript Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Ckmt1 A C 2: 121,191,631 (GRCm39) D267A probably damaging Het
Dtl G T 1: 191,280,442 (GRCm39) T364K probably damaging Het
Fat1 T A 8: 45,477,877 (GRCm39) F2308I probably damaging Het
Fbxo41 A T 6: 85,454,890 (GRCm39) S673T probably benign Het
Flnb G A 14: 7,909,736 (GRCm38) V1397I probably benign Het
Gdi2 A G 13: 3,598,855 (GRCm39) probably benign Het
Grik3 C T 4: 125,526,208 (GRCm39) T147I probably benign Het
Htr1a T C 13: 105,581,792 (GRCm39) V344A possibly damaging Het
Isg20l2 A T 3: 87,839,068 (GRCm39) D93V probably damaging Het
Kcnt2 T C 1: 140,282,293 (GRCm39) probably null Het
Mfsd4b3-ps A G 10: 39,824,068 (GRCm39) M64T probably benign Het
Nox3 T A 17: 3,746,527 (GRCm39) probably benign Het
Or2ag12 C T 7: 106,277,400 (GRCm39) A98T probably benign Het
Pikfyve T A 1: 65,290,794 (GRCm39) N1204K probably damaging Het
Pou4f3 C T 18: 42,529,031 (GRCm39) Q325* probably null Het
Rap1a T A 3: 105,639,351 (GRCm39) T103S probably benign Het
Rfc4 G A 16: 22,934,526 (GRCm39) R165C probably damaging Het
Syt17 C T 7: 117,981,270 (GRCm39) G351S possibly damaging Het
Tcf20 T A 15: 82,738,101 (GRCm39) M1117L probably benign Het
Tent5a A G 9: 85,208,652 (GRCm39) V57A probably damaging Het
Tgfbr3 A T 5: 107,362,894 (GRCm39) H39Q probably damaging Het
Trdmt1 T C 2: 13,526,071 (GRCm39) probably null Het
Twf2 A G 9: 106,090,027 (GRCm39) I127V probably benign Het
Unc13c A G 9: 73,392,175 (GRCm39) V2059A probably damaging Het
Other mutations in Smtnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01702:Smtnl1 APN 2 84,649,034 (GRCm39) missense possibly damaging 0.71
IGL01836:Smtnl1 APN 2 84,645,714 (GRCm39) missense probably damaging 1.00
IGL01866:Smtnl1 APN 2 84,649,089 (GRCm39) missense possibly damaging 0.80
IGL01869:Smtnl1 APN 2 84,641,741 (GRCm39) makesense probably null
IGL01989:Smtnl1 APN 2 84,648,814 (GRCm39) missense probably benign 0.22
IGL02247:Smtnl1 APN 2 84,647,372 (GRCm39) splice site probably benign
R1442:Smtnl1 UTSW 2 84,648,780 (GRCm39) missense probably damaging 0.97
R4577:Smtnl1 UTSW 2 84,648,787 (GRCm39) missense possibly damaging 0.50
R5340:Smtnl1 UTSW 2 84,645,785 (GRCm39) missense probably damaging 1.00
R5524:Smtnl1 UTSW 2 84,649,238 (GRCm39) missense probably benign 0.05
R5561:Smtnl1 UTSW 2 84,648,739 (GRCm39) missense probably benign 0.31
R5631:Smtnl1 UTSW 2 84,649,098 (GRCm39) missense probably benign
R5997:Smtnl1 UTSW 2 84,645,722 (GRCm39) missense probably damaging 1.00
R6050:Smtnl1 UTSW 2 84,641,797 (GRCm39) missense probably damaging 1.00
R6433:Smtnl1 UTSW 2 84,648,712 (GRCm39) missense probably benign 0.03
R7011:Smtnl1 UTSW 2 84,648,753 (GRCm39) missense probably benign 0.01
R8390:Smtnl1 UTSW 2 84,645,694 (GRCm39) nonsense probably null
R8406:Smtnl1 UTSW 2 84,648,742 (GRCm39) missense probably benign 0.01
Posted On 2013-06-21