Incidental Mutation 'IGL02473:Smtn'
ID 294806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smtn
Ensembl Gene ENSMUSG00000020439
Gene Name smoothelin
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.515) question?
Stock # IGL02473
Quality Score
Status
Chromosome 11
Chromosomal Location 3467522-3489337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3482463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 140 (G140D)
Ref Sequence ENSEMBL: ENSMUSP00000118750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020718] [ENSMUST00000020721] [ENSMUST00000075118] [ENSMUST00000110011] [ENSMUST00000156201] [ENSMUST00000170588] [ENSMUST00000136243]
AlphaFold Q921U8
Predicted Effect probably benign
Transcript: ENSMUST00000020718
SMART Domains Protein: ENSMUSP00000020718
Gene: ENSMUSG00000020439

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
low complexity region 26 38 N/A INTRINSIC
coiled coil region 41 74 N/A INTRINSIC
low complexity region 75 100 N/A INTRINSIC
low complexity region 118 132 N/A INTRINSIC
Pfam:Smoothelin 154 208 1e-23 PFAM
low complexity region 212 236 N/A INTRINSIC
CH 322 421 1.04e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000020721
AA Change: G140D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000020721
Gene: ENSMUSG00000020439
AA Change: G140D

DomainStartEndE-ValueType
Pfam:Smoothelin 1 41 1.7e-15 PFAM
Pfam:Smoothelin 68 122 6.8e-19 PFAM
low complexity region 159 180 N/A INTRINSIC
low complexity region 192 205 N/A INTRINSIC
low complexity region 233 257 N/A INTRINSIC
low complexity region 366 391 N/A INTRINSIC
Pfam:Smoothelin 563 617 2.7e-23 PFAM
low complexity region 697 721 N/A INTRINSIC
CH 807 906 1.04e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000075118
AA Change: G140D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000074621
Gene: ENSMUSG00000020439
AA Change: G140D

DomainStartEndE-ValueType
Pfam:Smoothelin 1 41 1.7e-15 PFAM
Pfam:Smoothelin 68 122 6.8e-19 PFAM
low complexity region 159 180 N/A INTRINSIC
low complexity region 192 205 N/A INTRINSIC
low complexity region 233 257 N/A INTRINSIC
low complexity region 366 391 N/A INTRINSIC
Pfam:Smoothelin 563 617 2.8e-23 PFAM
low complexity region 697 721 N/A INTRINSIC
CH 807 907 9.51e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110011
AA Change: G140D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105638
Gene: ENSMUSG00000020439
AA Change: G140D

DomainStartEndE-ValueType
Pfam:Smoothelin 1 41 2.5e-14 PFAM
Pfam:Smoothelin 72 122 8.5e-19 PFAM
low complexity region 159 180 N/A INTRINSIC
low complexity region 192 205 N/A INTRINSIC
low complexity region 233 257 N/A INTRINSIC
low complexity region 366 391 N/A INTRINSIC
Pfam:Smoothelin 568 617 6e-25 PFAM
low complexity region 697 721 N/A INTRINSIC
CH 807 930 1.62e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123459
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125275
Predicted Effect probably damaging
Transcript: ENSMUST00000156201
AA Change: G140D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118750
Gene: ENSMUSG00000020439
AA Change: G140D

DomainStartEndE-ValueType
Pfam:Smoothelin 1 41 3.4e-13 PFAM
Pfam:Smoothelin 68 122 1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170588
AA Change: G140D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000133155
Gene: ENSMUSG00000020439
AA Change: G140D

DomainStartEndE-ValueType
Pfam:Smoothelin 1 41 1.7e-15 PFAM
Pfam:Smoothelin 68 122 6.8e-19 PFAM
low complexity region 159 180 N/A INTRINSIC
low complexity region 192 205 N/A INTRINSIC
low complexity region 233 257 N/A INTRINSIC
low complexity region 366 391 N/A INTRINSIC
Pfam:Smoothelin 563 617 2.7e-23 PFAM
low complexity region 697 721 N/A INTRINSIC
CH 807 906 1.04e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154861
Predicted Effect probably benign
Transcript: ENSMUST00000136243
SMART Domains Protein: ENSMUSP00000117307
Gene: ENSMUSG00000020439

DomainStartEndE-ValueType
Pfam:Smoothelin 1 41 2.3e-16 PFAM
Pfam:Smoothelin 68 122 6.7e-20 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions of both the A and B isoforms of this gene display partial postnatal lethality, impaired intestinal smooth muscle contractility and thus hampered intestinal transit and diverticulosis. Mice lacking only the B isoform appearnormal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik G A 5: 48,545,440 (GRCm39) probably benign Het
9030624G23Rik A G 12: 24,094,853 (GRCm39) F106S probably benign Het
A930011G23Rik T C 5: 99,370,854 (GRCm39) Y468C probably damaging Het
Abcd3 T C 3: 121,562,893 (GRCm39) T515A possibly damaging Het
Acrbp A G 6: 125,031,661 (GRCm39) T321A probably benign Het
Aldh2 T C 5: 121,710,141 (GRCm39) Y398C probably damaging Het
Baz2b T A 2: 59,790,407 (GRCm39) D602V probably benign Het
Ccdc191 T C 16: 43,777,257 (GRCm39) V714A probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntn2 A G 1: 132,446,069 (GRCm39) L839P probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp3a16 T C 5: 145,377,304 (GRCm39) I428V possibly damaging Het
Dnah7b A T 1: 46,273,353 (GRCm39) T2494S probably damaging Het
Dnaja3 T A 16: 4,519,104 (GRCm39) Y348* probably null Het
Dnajb3 C A 1: 88,133,104 (GRCm39) E99D probably benign Het
Igf2bp3 A G 6: 49,071,163 (GRCm39) F411L probably benign Het
L3mbtl4 A T 17: 68,866,772 (GRCm39) Y337F possibly damaging Het
Lias A G 5: 65,562,745 (GRCm39) T258A possibly damaging Het
Lipk T A 19: 34,016,548 (GRCm39) C254S probably damaging Het
Map4k1 T C 7: 28,699,297 (GRCm39) L596S probably damaging Het
Mdga2 T C 12: 66,597,385 (GRCm39) E703G possibly damaging Het
Mreg A G 1: 72,201,495 (GRCm39) Y166H probably damaging Het
Or2f1b A G 6: 42,739,640 (GRCm39) Y218C probably damaging Het
Or4b1b T C 2: 90,112,040 (GRCm39) K293R probably null Het
Pcgf2 A G 11: 97,582,747 (GRCm39) probably benign Het
Prdm15 T C 16: 97,638,805 (GRCm39) probably null Het
Rnf111 A G 9: 70,348,140 (GRCm39) V810A probably damaging Het
Rpl23a-ps1 A T 1: 46,020,951 (GRCm39) noncoding transcript Het
Smc3 C A 19: 53,624,879 (GRCm39) A779E probably benign Het
Son T C 16: 91,455,683 (GRCm39) S1477P probably damaging Het
Strn T C 17: 78,991,722 (GRCm39) D20G possibly damaging Het
Tektl1 A T 10: 78,586,428 (GRCm39) S208T probably benign Het
Tnxb T C 17: 34,936,736 (GRCm39) L2798P probably damaging Het
Ttn A C 2: 76,775,896 (GRCm39) N1715K probably damaging Het
Vps33a A T 5: 123,707,634 (GRCm39) I111N probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zscan4d A T 7: 10,896,336 (GRCm39) C345S probably benign Het
Other mutations in Smtn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Smtn APN 11 3,476,326 (GRCm39) critical splice donor site probably null
IGL02335:Smtn APN 11 3,476,215 (GRCm39) missense probably damaging 1.00
IGL02678:Smtn APN 11 3,476,353 (GRCm39) missense possibly damaging 0.95
IGL02824:Smtn APN 11 3,482,658 (GRCm39) missense probably damaging 1.00
IGL03067:Smtn APN 11 3,480,165 (GRCm39) missense possibly damaging 0.53
IGL03142:Smtn APN 11 3,482,601 (GRCm39) nonsense probably null
runtish UTSW 11 3,481,326 (GRCm39) missense possibly damaging 0.89
R0279:Smtn UTSW 11 3,480,235 (GRCm39) missense probably damaging 0.99
R0523:Smtn UTSW 11 3,474,664 (GRCm39) missense possibly damaging 0.89
R0855:Smtn UTSW 11 3,471,880 (GRCm39) missense probably damaging 1.00
R1080:Smtn UTSW 11 3,467,693 (GRCm39) missense probably damaging 1.00
R1218:Smtn UTSW 11 3,480,021 (GRCm39) missense probably benign
R1571:Smtn UTSW 11 3,480,102 (GRCm39) missense probably benign 0.00
R1899:Smtn UTSW 11 3,481,326 (GRCm39) missense possibly damaging 0.89
R2033:Smtn UTSW 11 3,467,781 (GRCm39) missense probably benign 0.43
R2126:Smtn UTSW 11 3,480,045 (GRCm39) missense probably benign 0.02
R2358:Smtn UTSW 11 3,482,865 (GRCm39) splice site probably null
R3690:Smtn UTSW 11 3,477,687 (GRCm39) intron probably benign
R3712:Smtn UTSW 11 3,482,865 (GRCm39) splice site probably null
R4108:Smtn UTSW 11 3,476,449 (GRCm39) missense probably benign 0.10
R4709:Smtn UTSW 11 3,474,663 (GRCm39) missense probably damaging 0.99
R4710:Smtn UTSW 11 3,474,663 (GRCm39) missense probably damaging 0.99
R4830:Smtn UTSW 11 3,470,736 (GRCm39) intron probably benign
R4944:Smtn UTSW 11 3,472,916 (GRCm39) missense probably damaging 1.00
R4959:Smtn UTSW 11 3,477,825 (GRCm39) start codon destroyed probably null
R5223:Smtn UTSW 11 3,479,530 (GRCm39) missense probably benign 0.00
R5554:Smtn UTSW 11 3,470,811 (GRCm39) nonsense probably null
R5610:Smtn UTSW 11 3,479,582 (GRCm39) missense probably damaging 1.00
R5636:Smtn UTSW 11 3,467,829 (GRCm39) critical splice acceptor site probably null
R5972:Smtn UTSW 11 3,483,486 (GRCm39) missense probably damaging 1.00
R6108:Smtn UTSW 11 3,479,608 (GRCm39) missense probably damaging 0.99
R6227:Smtn UTSW 11 3,477,624 (GRCm39) intron probably benign
R7016:Smtn UTSW 11 3,480,368 (GRCm39) critical splice donor site probably null
R7423:Smtn UTSW 11 3,481,200 (GRCm39) critical splice donor site probably null
R7426:Smtn UTSW 11 3,480,249 (GRCm39) missense probably benign 0.10
R7447:Smtn UTSW 11 3,480,196 (GRCm39) missense probably benign
R7496:Smtn UTSW 11 3,479,988 (GRCm39) missense probably damaging 0.99
R7716:Smtn UTSW 11 3,474,708 (GRCm39) missense probably benign 0.00
R8762:Smtn UTSW 11 3,476,407 (GRCm39) missense probably benign 0.00
R8925:Smtn UTSW 11 3,479,477 (GRCm39) missense possibly damaging 0.68
R8927:Smtn UTSW 11 3,479,477 (GRCm39) missense possibly damaging 0.68
R8932:Smtn UTSW 11 3,472,908 (GRCm39) missense probably benign 0.01
R9137:Smtn UTSW 11 3,472,838 (GRCm39) missense possibly damaging 0.93
R9502:Smtn UTSW 11 3,482,780 (GRCm39) missense possibly damaging 0.88
Posted On 2015-04-16