Incidental Mutation 'IGL02000:Smco1'
ID183014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smco1
Ensembl Gene ENSMUSG00000046345
Gene Namesingle-pass membrane protein with coiled-coil domains 1
Synonyms2310010M20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02000
Quality Score
Status
Chromosome16
Chromosomal Location32271468-32274781 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 32273933 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 141 (T141S)
Ref Sequence ENSEMBL: ENSMUSP00000090873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014218] [ENSMUST00000093183] [ENSMUST00000155649] [ENSMUST00000171474]
Predicted Effect probably benign
Transcript: ENSMUST00000014218
SMART Domains Protein: ENSMUSP00000014218
Gene: ENSMUSG00000014074

DomainStartEndE-ValueType
RING 16 54 8.23e-6 SMART
coiled coil region 114 184 N/A INTRINSIC
low complexity region 208 221 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000093183
AA Change: T141S

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000090873
Gene: ENSMUSG00000046345
AA Change: T141S

DomainStartEndE-ValueType
Pfam:DUF4547 19 214 5e-120 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155649
SMART Domains Protein: ENSMUSP00000115807
Gene: ENSMUSG00000014074

DomainStartEndE-ValueType
RING 16 54 8.23e-6 SMART
coiled coil region 114 183 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171474
SMART Domains Protein: ENSMUSP00000126484
Gene: ENSMUSG00000014074

DomainStartEndE-ValueType
RING 18 56 8.23e-6 SMART
coiled coil region 116 186 N/A INTRINSIC
low complexity region 210 223 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid5a T C 1: 36,319,497 F450S probably damaging Het
Astn1 C T 1: 158,674,614 R1133C probably damaging Het
Cd101 G A 3: 101,012,082 P568L probably benign Het
Cdkl4 T C 17: 80,543,763 E170G probably damaging Het
Chit1 A G 1: 134,146,675 E240G probably benign Het
Duox2 T C 2: 122,290,709 T741A probably benign Het
Eef2 T C 10: 81,180,011 V427A probably benign Het
Ewsr1 T C 11: 5,088,077 D105G probably damaging Het
Ftsj3 C T 11: 106,250,407 R629Q probably benign Het
Gm10406 C T 14: 7,009,867 G181E probably benign Het
Ilk A G 7: 105,741,169 H185R probably benign Het
Lamc1 A T 1: 153,240,433 C1001S probably damaging Het
Mcidas T C 13: 112,997,440 S153P probably benign Het
Mtcl1 T C 17: 66,354,190 E931G probably benign Het
Myo10 C T 15: 25,808,066 R1925C probably damaging Het
Notch3 A G 17: 32,122,742 V2012A probably damaging Het
Olfr809 C A 10: 129,776,069 H67N probably benign Het
Parp6 A G 9: 59,648,892 M542V probably benign Het
Rab27a G A 9: 73,084,972 G94D probably damaging Het
Ralgapb A G 2: 158,454,114 probably benign Het
Rassf4 T C 6: 116,645,972 E26G probably benign Het
Rnf166 C T 8: 122,467,222 D221N probably damaging Het
Rptn G T 3: 93,396,428 G356V probably benign Het
Rwdd2b T A 16: 87,436,940 probably benign Het
Scfd1 T A 12: 51,414,117 S337T probably benign Het
Sel1l3 T A 5: 53,145,493 D678V probably damaging Het
Sidt1 A T 16: 44,286,369 F233I probably damaging Het
Slc12a4 T C 8: 105,945,232 D917G probably damaging Het
Slc22a2 A T 17: 12,584,383 I35F possibly damaging Het
Svs6 T C 2: 164,317,432 probably benign Het
Syne2 C T 12: 76,015,645 A4247V probably damaging Het
Tacc2 T A 7: 130,729,168 probably null Het
Tgm4 A T 9: 123,056,466 I358F probably damaging Het
Thnsl2 A G 6: 71,134,219 S222P probably damaging Het
Tmem25 G A 9: 44,798,271 R78* probably null Het
Ube2l6 T C 2: 84,809,162 probably benign Het
Usp10 T A 8: 119,948,741 Y63N possibly damaging Het
Vit A G 17: 78,605,486 I283V possibly damaging Het
Vmn1r214 G A 13: 23,035,100 V255I possibly damaging Het
Xpo1 A G 11: 23,296,003 R1038G probably damaging Het
Ybx1 T A 4: 119,282,312 N50I probably damaging Het
Zhx1 T C 15: 58,054,287 K188E probably damaging Het
Other mutations in Smco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Smco1 APN 16 32274069 missense probably damaging 1.00
IGL01704:Smco1 APN 16 32273886 missense probably benign 0.26
R0217:Smco1 UTSW 16 32273781 missense possibly damaging 0.77
R0602:Smco1 UTSW 16 32273244 missense probably damaging 0.98
R1794:Smco1 UTSW 16 32274132 missense probably benign 0.03
R1913:Smco1 UTSW 16 32273882 missense probably damaging 1.00
R1996:Smco1 UTSW 16 32273912 missense probably benign 0.00
R1998:Smco1 UTSW 16 32273840 missense probably damaging 1.00
R3801:Smco1 UTSW 16 32273898 missense probably benign 0.00
R3802:Smco1 UTSW 16 32273898 missense probably benign 0.00
R3915:Smco1 UTSW 16 32273765 missense probably benign 0.01
R5194:Smco1 UTSW 16 32273774 missense probably damaging 1.00
R5464:Smco1 UTSW 16 32273876 missense probably damaging 1.00
R5850:Smco1 UTSW 16 32273856 missense probably damaging 1.00
R6221:Smco1 UTSW 16 32273205 missense probably benign 0.00
R6267:Smco1 UTSW 16 32274014 missense probably benign 0.00
R6454:Smco1 UTSW 16 32273223 missense possibly damaging 0.46
R7068:Smco1 UTSW 16 32274111 missense probably benign 0.01
R7196:Smco1 UTSW 16 32273802 missense probably damaging 1.00
R7227:Smco1 UTSW 16 32274015 missense possibly damaging 0.93
R7517:Smco1 UTSW 16 32273967 missense possibly damaging 0.88
R7587:Smco1 UTSW 16 32273723 missense probably benign 0.01
R7923:Smco1 UTSW 16 32274047 missense possibly damaging 0.58
R8247:Smco1 UTSW 16 32273739 missense probably benign 0.06
R8684:Smco1 UTSW 16 32274023 missense probably damaging 0.96
Z1088:Smco1 UTSW 16 32273215 missense probably damaging 1.00
Posted On2014-05-07