Incidental Mutation 'IGL01869:Smtnl1'
ID178640
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 #IGL01869
Quality Score
Status
Chromosome2
Chromosomal Location84811176-84822652 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to T at 84811397 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Arginine at position 460 (*460R)
Ref Sequence ENSEMBL: ENSMUSP00000028471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028471] [ENSMUST00000102642]
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 null
Transcript: ENSMUST00000028471
AA Change: *460R
SMART Domains Protein: ENSMUSP00000028471
Gene: ENSMUSG00000027077
AA Change: *460R

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
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700026F02Rik A G 8: 71,043,045 noncoding transcript Het
Adam29 T C 8: 55,871,697 H574R probably damaging Het
Arap1 C A 7: 101,400,283 T984K probably damaging Het
Ccdc146 A T 5: 21,316,839 S396T probably benign Het
Col6a3 T C 1: 90,773,048 K2587E unknown Het
Cyp3a44 A G 5: 145,790,686 S278P probably damaging Het
Daw1 T G 1: 83,182,244 probably benign Het
Dnah17 T C 11: 118,052,676 K3200R probably benign Het
Efhd2 A G 4: 141,874,602 F89S probably damaging Het
Fras1 A G 5: 96,708,783 probably benign Het
Ggps1 T C 13: 14,054,394 D68G probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm3604 A T 13: 62,370,140 C134S probably damaging Het
Gpaa1 A G 15: 76,332,998 T178A probably benign Het
Lama3 A G 18: 12,524,763 N312S possibly damaging Het
Npepps T C 11: 97,236,122 I437M probably damaging Het
Olfr1495 A G 19: 13,769,170 D276G probably benign Het
Olfr266 C T 3: 106,822,026 D178N probably benign Het
Rcor1 C A 12: 111,103,759 T330K possibly damaging Het
Sbno2 A G 10: 80,060,392 probably null Het
Sema3g A G 14: 31,223,667 E478G probably damaging Het
Smg9 A G 7: 24,416,524 D280G probably damaging Het
Syde1 A G 10: 78,588,919 C360R possibly damaging Het
Szt2 A G 4: 118,399,071 V197A possibly damaging Het
Tnrc6c T C 11: 117,755,448 V1405A possibly damaging Het
Ttbk1 A G 17: 46,447,063 S882P probably damaging Het
Tubgcp4 T A 2: 121,175,788 H116Q possibly damaging Het
Vmn1r192 T A 13: 22,187,580 N157Y probably damaging Het
Vmn1r60 C T 7: 5,544,229 V291M probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo5 C T 17: 46,242,207 P1184L possibly damaging Het
Zfp946 T G 17: 22,454,703 I146S probably benign Het
Other mutations in Smtnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Smtnl1 APN 2 84818887 missense probably benign
IGL01702:Smtnl1 APN 2 84818690 missense possibly damaging 0.71
IGL01836:Smtnl1 APN 2 84815370 missense probably damaging 1.00
IGL01866:Smtnl1 APN 2 84818745 missense possibly damaging 0.80
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
Posted On2014-05-07