Incidental Mutation 'IGL01866:Smtnl1'
ID 178496
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 # IGL01866
Quality Score
Chromosome 2
Chromosomal Location 84641520-84652996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 84649089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 55 (C55F)
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 possibly damaging
Transcript: ENSMUST00000028471
AA Change: C55F

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028471
Gene: ENSMUSG00000027077
AA Change: C55F

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T C 4: 144,255,119 (GRCm39) Y180H possibly damaging Het
Abi3bp A T 16: 56,492,336 (GRCm39) I1361L probably benign Het
Amph A T 13: 19,326,172 (GRCm39) D634V probably damaging Het
Ank1 G A 8: 23,583,871 (GRCm39) V317I possibly damaging Het
Ap4e1 G A 2: 126,888,830 (GRCm39) V460I possibly damaging Het
Arhgap19 A T 19: 41,775,016 (GRCm39) H198Q probably benign Het
Cacna1g C T 11: 94,347,937 (GRCm39) G717D probably damaging Het
Camkk2 A G 5: 122,902,013 (GRCm39) S99P probably damaging Het
Catsperb T A 12: 101,475,570 (GRCm39) Y371* probably null Het
Cbl A T 9: 44,065,122 (GRCm39) C735* probably null Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Col1a2 G T 6: 4,524,132 (GRCm39) D531Y probably damaging Het
Dscam T A 16: 96,486,550 (GRCm39) T1042S probably benign Het
Dtnb A G 12: 3,782,626 (GRCm39) Y363C probably benign Het
Ear10 A G 14: 44,160,785 (GRCm39) L14P probably damaging Het
Egf A G 3: 129,529,529 (GRCm39) S294P probably benign Het
Erbb3 T C 10: 128,405,237 (GRCm39) *1340W probably null Het
Fam217b A G 2: 178,062,224 (GRCm39) T63A probably benign Het
Fig4 G A 10: 41,108,160 (GRCm39) P680L possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm6882 T A 7: 21,161,512 (GRCm39) I119F probably damaging Het
Hdac10 C A 15: 89,008,736 (GRCm39) G442W probably damaging Het
Mc2r C T 18: 68,540,494 (GRCm39) M266I possibly damaging Het
Mep1b A G 18: 21,228,050 (GRCm39) Q551R probably benign Het
Mtrf1 T A 14: 79,638,948 (GRCm39) C27S probably benign Het
Myo5c T A 9: 75,176,864 (GRCm39) M603K probably benign Het
Nuf2 A G 1: 169,326,407 (GRCm39) L448P possibly damaging Het
Or10a49 C T 7: 108,468,006 (GRCm39) M118I possibly damaging Het
Or1e30 A T 11: 73,678,654 (GRCm39) I297L probably benign Het
Or2b7 T C 13: 21,739,343 (GRCm39) N283S probably benign Het
Or8g33 A T 9: 39,338,025 (GRCm39) M114K probably damaging Het
Ppp2r5c T C 12: 110,534,261 (GRCm39) Y375H probably benign Het
Pstpip2 A G 18: 77,965,325 (GRCm39) I317M probably benign Het
Pxdn A G 12: 30,034,570 (GRCm39) T208A probably benign Het
Rab3gap1 C T 1: 127,818,817 (GRCm39) H116Y probably damaging Het
Rarb T A 14: 16,443,751 (GRCm38) D179V probably benign Het
Rasal1 G A 5: 120,813,488 (GRCm39) A621T probably damaging Het
Rnf6 G A 5: 146,147,717 (GRCm39) R434C probably damaging Het
Scn10a C A 9: 119,464,568 (GRCm39) E1011* probably null Het
Sec24d C T 3: 123,087,244 (GRCm39) Q137* probably null Het
Slc35g1 C A 19: 38,391,642 (GRCm39) A308E probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stt3a A T 9: 36,645,662 (GRCm39) D676E probably benign Het
Sytl2 T C 7: 90,031,047 (GRCm39) probably benign Het
Trabd2b A G 4: 114,266,117 (GRCm39) T44A probably damaging Het
Trim12a T C 7: 103,953,360 (GRCm39) probably benign Het
Tti1 A T 2: 157,849,618 (GRCm39) D540E probably benign Het
Tubgcp6 A G 15: 88,987,691 (GRCm39) V1094A probably benign Het
Vmn1r34 A G 6: 66,614,373 (GRCm39) Y122H probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp579 T A 7: 4,997,257 (GRCm39) Q218L possibly damaging Het
Other mutations in Smtnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Smtnl1 APN 2 84,649,231 (GRCm39) missense probably benign
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
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 2014-05-07