Incidental Mutation 'R6050:Smtnl1'
ID 483488
Institutional Source Beutler Lab
Gene Symbol Smtnl1
Ensembl Gene ENSMUSG00000027077
Gene Name smoothelin-like 1
Synonyms Chasm, 1110030K22Rik
MMRRC Submission 044218-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6050 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 84641520-84652996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84641797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 441 (I441T)
Ref Sequence ENSEMBL: ENSMUSP00000028471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028471] [ENSMUST00000102642]
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 damaging
Transcript: ENSMUST00000028471
AA Change: I441T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028471
Gene: ENSMUSG00000027077
AA Change: I441T

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
Predicted Effect probably benign
Transcript: ENSMUST00000102642
SMART Domains Protein: ENSMUSP00000099702
Gene: ENSMUSG00000027078

DomainStartEndE-ValueType
UBCc 5 149 1.03e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159150
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Ahdc1 A G 4: 132,793,202 (GRCm39) D1481G possibly damaging Het
Ak9 A G 10: 41,265,108 (GRCm39) E955G possibly damaging Het
Aox3 T C 1: 58,219,814 (GRCm39) F1138S possibly damaging Het
Bbs2 T A 8: 94,819,160 (GRCm39) N70Y probably damaging Het
BC048679 T C 7: 81,145,339 (GRCm39) I70V possibly damaging Het
Catspere2 G A 1: 177,931,490 (GRCm39) A470T unknown Het
Ccdc141 G T 2: 76,842,075 (GRCm39) A1452E probably benign Het
Celsr1 T C 15: 85,814,812 (GRCm39) D1883G probably benign Het
Clhc1 A G 11: 29,511,397 (GRCm39) I280M possibly damaging Het
Cmtr1 G T 17: 29,901,108 (GRCm39) K678N probably damaging Het
Daam2 T C 17: 49,793,530 (GRCm39) D329G possibly damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Duox1 C T 2: 122,149,956 (GRCm39) P116S probably benign Het
Fcf1 G A 12: 85,029,017 (GRCm39) C154Y probably damaging Het
Frem2 T C 3: 53,560,433 (GRCm39) N1358S probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gtf3c3 T C 1: 54,445,229 (GRCm39) I608M probably benign Het
Gzf1 G A 2: 148,526,158 (GRCm39) D210N possibly damaging Het
Ift140 C T 17: 25,309,979 (GRCm39) R1129C probably damaging Het
Lias A G 5: 65,551,315 (GRCm39) I83V possibly damaging Het
Mlh3 T C 12: 85,287,620 (GRCm39) T1342A possibly damaging Het
Mn1 A G 5: 111,567,263 (GRCm39) Y411C probably damaging Het
Mrps21 C T 3: 95,770,200 (GRCm39) R43H probably benign Het
Ncam2 C T 16: 81,240,054 (GRCm39) Q172* probably null Het
Notch3 T C 17: 32,362,501 (GRCm39) T1375A probably benign Het
Oga A C 19: 45,753,919 (GRCm39) S652A possibly damaging Het
Ovol3 T A 7: 29,933,819 (GRCm39) Y101F probably benign Het
Pcbp4 T C 9: 106,339,422 (GRCm39) V45A probably benign Het
Plec T C 15: 76,072,458 (GRCm39) E709G probably damaging Het
Prcc G A 3: 87,777,191 (GRCm39) T261I probably damaging Het
Psg25 A G 7: 18,260,403 (GRCm39) V165A probably benign Het
Rfk C T 19: 17,376,896 (GRCm39) P133S probably benign Het
Scaf8 C T 17: 3,218,383 (GRCm39) T251M unknown Het
Sec14l2 T C 11: 4,061,477 (GRCm39) D67G probably benign Het
Tbce C T 13: 14,173,019 (GRCm39) V471I possibly damaging Het
Tnip1 G A 11: 54,808,703 (GRCm39) R495C probably damaging Het
Trbv19 A G 6: 41,155,944 (GRCm39) K105R probably benign Het
Ttc5 T A 14: 51,010,744 (GRCm39) N229I probably damaging Het
Ush2a T C 1: 188,689,521 (GRCm39) F5028L probably benign Het
Vmn2r24 T C 6: 123,792,691 (GRCm39) S673P probably damaging Het
Zfp780b A T 7: 27,663,727 (GRCm39) I276N probably 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
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
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
Predicted Primers PCR Primer
(F):5'- CCTGTAACATACGTGTGGCTGG -3'
(R):5'- ACTGTTAGGGTTGCTGGACC -3'

Sequencing Primer
(F):5'- GAGGAATTTTGAAAAAGCACTTTCGG -3'
(R):5'- GGTTGCTGGACCCATTCATC -3'
Posted On 2017-07-14