Incidental Mutation 'R6433:Smtnl1'
ID 518623
Institutional Source Beutler Lab
Gene Symbol Smtnl1
Ensembl Gene ENSMUSG00000027077
Gene Name smoothelin-like 1
Synonyms Chasm, 1110030K22Rik
MMRRC Submission 044571-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6433 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 84641520-84652996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 84648712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 181 (S181A)
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: S181A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000028471
Gene: ENSMUSG00000027077
AA Change: S181A

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
Meta Mutation Damage Score 0.0672 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T A 17: 14,101,561 (GRCm39) D1016E probably damaging Het
Aplnr A T 2: 84,967,017 (GRCm39) Q14L probably benign Het
Aspm T C 1: 139,401,421 (GRCm39) L1147S probably damaging Het
Atad2b A G 12: 5,002,642 (GRCm39) T337A possibly damaging Het
Atrn A G 2: 130,864,947 (GRCm39) E1358G probably damaging Het
Caml C A 13: 55,771,062 (GRCm39) S53R possibly damaging Het
Cd180 T G 13: 102,842,141 (GRCm39) S396A probably benign Het
Cdhr2 A G 13: 54,866,325 (GRCm39) T344A probably damaging Het
Cyp4a31 A C 4: 115,427,466 (GRCm39) D224A probably damaging Het
Dhx36 T C 3: 62,392,395 (GRCm39) T544A probably damaging Het
Dnah14 A G 1: 181,479,222 (GRCm39) K1528E probably damaging Het
Dnpep T A 1: 75,292,022 (GRCm39) K199N probably benign Het
Dsc2 C T 18: 20,184,232 (GRCm39) probably null Het
Efl1 T A 7: 82,323,776 (GRCm39) D239E probably damaging Het
Elovl4 A G 9: 83,667,231 (GRCm39) V42A possibly damaging Het
Exoc3 T C 13: 74,337,306 (GRCm39) T432A possibly damaging Het
Fam98c A G 7: 28,855,553 (GRCm39) probably null Het
Fbln2 G A 6: 91,210,254 (GRCm39) G66D probably damaging Het
Fchsd1 G A 18: 38,097,137 (GRCm39) T410I possibly damaging Het
Flcn T C 11: 59,691,908 (GRCm39) D247G probably damaging Het
Galnt16 T C 12: 80,622,677 (GRCm39) V127A probably benign Het
H2-Ob A T 17: 34,462,860 (GRCm39) probably null Het
Has2 G A 15: 56,531,194 (GRCm39) S507F possibly damaging Het
Ido2 T A 8: 25,023,939 (GRCm39) M300L probably damaging Het
Itga10 T C 3: 96,565,357 (GRCm39) probably null Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Mfsd2a A G 4: 122,844,250 (GRCm39) V299A probably benign Het
Mybpc1 T C 10: 88,396,217 (GRCm39) D210G probably damaging Het
Ndrg1 A T 15: 66,805,721 (GRCm39) M128K probably damaging Het
Obscn T A 11: 58,942,384 (GRCm39) T5091S probably benign Het
Or2j3 A G 17: 38,616,304 (GRCm39) L16P probably damaging Het
Pex5 A T 6: 124,390,572 (GRCm39) M91K possibly damaging Het
Phlpp2 G T 8: 110,661,317 (GRCm39) A810S probably benign Het
Pla2g7 G C 17: 43,910,017 (GRCm39) A174P probably damaging Het
Plxna4 C T 6: 32,192,613 (GRCm39) V783M probably damaging Het
Poll A T 19: 45,542,043 (GRCm39) M421K probably benign Het
Ppfia2 C A 10: 106,749,559 (GRCm39) S1148R possibly damaging Het
Prkg1 A G 19: 30,758,746 (GRCm39) F280S probably benign Het
Rdh10 G A 1: 16,178,079 (GRCm39) C117Y probably damaging Het
Rtl1 C A 12: 109,561,630 (GRCm39) A70S unknown Het
Scgb2b3 A T 7: 31,058,492 (GRCm39) L104I probably benign Het
Sh3tc1 T C 5: 35,863,941 (GRCm39) R749G probably damaging Het
Skint4 A G 4: 112,003,707 (GRCm39) K380R probably benign Het
Spata31d1b T C 13: 59,864,999 (GRCm39) S716P probably damaging Het
Spc25 A G 2: 69,036,446 (GRCm39) probably benign Het
Stab2 C T 10: 86,737,431 (GRCm39) probably null Het
Timm22 T C 11: 76,300,570 (GRCm39) V114A possibly damaging Het
Timp4 A G 6: 115,224,181 (GRCm39) C163R probably damaging Het
Toporsl T A 4: 52,611,548 (GRCm39) N480K possibly damaging Het
Tpo T C 12: 30,134,753 (GRCm39) E735G probably benign Het
Trpm3 A G 19: 22,878,669 (GRCm39) D692G probably damaging Het
Ttn T C 2: 76,582,058 (GRCm39) H22945R probably damaging Het
Vmn2r6 A T 3: 64,454,801 (GRCm39) Y499* probably null Het
Vwa1 G A 4: 155,857,226 (GRCm39) H191Y probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTGTGTCCCTGTGTCAATACA -3'
(R):5'- CTGAACCCAATGAAGTTAGGGAGAAA -3'

Sequencing Primer
(F):5'- GGACTGAAACCTTTGAAACCATGGTC -3'
(R):5'- AGAGGAGGCCATGCTGG -3'
Posted On 2018-05-24