Incidental Mutation 'R7517:Smco1'
ID 582536
Institutional Source Beutler Lab
Gene Symbol Smco1
Ensembl Gene ENSMUSG00000046345
Gene Name single-pass membrane protein with coiled-coil domains 1
Synonyms 2310010M20Rik
MMRRC Submission 045590-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R7517 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 32090298-32093599 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32092785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 152 (H152L)
Ref Sequence ENSEMBL: ENSMUSP00000090873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014218] [ENSMUST00000093183] [ENSMUST00000171474]
AlphaFold Q8CEZ1
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: H152L

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090873
Gene: ENSMUSG00000046345
AA Change: H152L

DomainStartEndE-ValueType
Pfam:DUF4547 19 214 5e-120 PFAM
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 A T 14: 31,437,331 (GRCm39) V578E possibly damaging Het
Arhgap35 A T 7: 16,296,132 (GRCm39) C978S probably benign Het
Asph A T 4: 9,517,697 (GRCm39) V475E probably damaging Het
Atf7ip2 T A 16: 10,059,399 (GRCm39) probably null Het
Bace1 A T 9: 45,771,559 (GRCm39) D491V probably benign Het
Birc2 A G 9: 7,819,424 (GRCm39) I496T probably benign Het
Cacna2d4 C T 6: 119,248,882 (GRCm39) R448C probably benign Het
Ccdc181 T C 1: 164,107,989 (GRCm39) F224S probably damaging Het
Cdan1 C T 2: 120,558,405 (GRCm39) R469Q probably damaging Het
Ddx21 G A 10: 62,424,569 (GRCm39) P544L probably damaging Het
Epas1 C A 17: 87,138,526 (GRCm39) T874N possibly damaging Het
Fam13b A T 18: 34,627,660 (GRCm39) D180E probably damaging Het
Fcgbp G A 7: 27,784,794 (GRCm39) V285M probably damaging Het
Gcn1 T G 5: 115,757,755 (GRCm39) L2487V probably benign Het
Gm19410 C T 8: 36,240,772 (GRCm39) A216V possibly damaging Het
Gm4871 G T 5: 144,969,430 (GRCm39) R30S probably damaging Het
Gtf2ird1 T C 5: 134,391,379 (GRCm39) D899G probably benign Het
Hipk3 T C 2: 104,265,059 (GRCm39) T674A probably benign Het
Hnrnph3 A G 10: 62,854,674 (GRCm39) L39S unknown Het
Ift122 T C 6: 115,867,543 (GRCm39) V431A probably benign Het
Il36b A G 2: 24,049,890 (GRCm39) H167R probably benign Het
Lce3e T A 3: 92,875,142 (GRCm39) C33S unknown Het
Lrrc26 T C 2: 25,180,545 (GRCm39) I182T probably benign Het
Magi1 T C 6: 93,685,189 (GRCm39) R730G probably damaging Het
Meis3 G T 7: 15,911,743 (GRCm39) V102F probably damaging Het
Mpp7 G A 18: 7,440,183 (GRCm39) Q263* probably null Het
Myo7b A T 18: 32,146,320 (GRCm39) I155N probably damaging Het
Nrip1 A T 16: 76,088,072 (GRCm39) *1162K probably null Het
Or3a1b T A 11: 74,012,335 (GRCm39) D73E probably damaging Het
Or4k50-ps1 T C 2: 111,522,444 (GRCm39) F194L unknown Het
Or8i2 A C 2: 86,852,486 (GRCm39) V134G probably benign Het
Pdik1l T A 4: 134,005,736 (GRCm39) E326V possibly damaging Het
Phrf1 T C 7: 140,836,523 (GRCm39) M265T unknown Het
Piezo2 A T 18: 63,215,996 (GRCm39) N1222K possibly damaging Het
Pkd1 G A 17: 24,799,393 (GRCm39) V2871M probably damaging Het
Pon2 T G 6: 5,268,997 (GRCm39) N226H possibly damaging Het
Rftn2 G T 1: 55,234,708 (GRCm39) D338E probably damaging Het
Rnf123 A T 9: 107,947,473 (GRCm39) Y171* probably null Het
Ror2 A T 13: 53,264,901 (GRCm39) N730K possibly damaging Het
Serpinb6c T A 13: 34,079,278 (GRCm39) N138I probably damaging Het
Tgm3 T G 2: 129,883,684 (GRCm39) S447R probably benign Het
Topbp1 A G 9: 103,209,932 (GRCm39) K860E possibly damaging Het
Uba7 C A 9: 107,853,897 (GRCm39) probably benign Het
Ucp3 A G 7: 100,131,089 (GRCm39) N181D probably damaging Het
Unc13b C A 4: 43,215,765 (GRCm39) S21R probably benign Het
Usp34 T A 11: 23,396,968 (GRCm39) S2395R Het
Other mutations in Smco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Smco1 APN 16 32,092,887 (GRCm39) missense probably damaging 1.00
IGL01704:Smco1 APN 16 32,092,704 (GRCm39) missense probably benign 0.26
IGL02000:Smco1 APN 16 32,092,751 (GRCm39) missense possibly damaging 0.75
R0217:Smco1 UTSW 16 32,092,599 (GRCm39) missense possibly damaging 0.77
R0602:Smco1 UTSW 16 32,092,062 (GRCm39) missense probably damaging 0.98
R1794:Smco1 UTSW 16 32,092,950 (GRCm39) missense probably benign 0.03
R1913:Smco1 UTSW 16 32,092,700 (GRCm39) missense probably damaging 1.00
R1996:Smco1 UTSW 16 32,092,730 (GRCm39) missense probably benign 0.00
R1998:Smco1 UTSW 16 32,092,658 (GRCm39) missense probably damaging 1.00
R3801:Smco1 UTSW 16 32,092,716 (GRCm39) missense probably benign 0.00
R3802:Smco1 UTSW 16 32,092,716 (GRCm39) missense probably benign 0.00
R3915:Smco1 UTSW 16 32,092,583 (GRCm39) missense probably benign 0.01
R5194:Smco1 UTSW 16 32,092,592 (GRCm39) missense probably damaging 1.00
R5464:Smco1 UTSW 16 32,092,694 (GRCm39) missense probably damaging 1.00
R5850:Smco1 UTSW 16 32,092,674 (GRCm39) missense probably damaging 1.00
R6221:Smco1 UTSW 16 32,092,023 (GRCm39) missense probably benign 0.00
R6267:Smco1 UTSW 16 32,092,832 (GRCm39) missense probably benign 0.00
R6454:Smco1 UTSW 16 32,092,041 (GRCm39) missense possibly damaging 0.46
R7068:Smco1 UTSW 16 32,092,929 (GRCm39) missense probably benign 0.01
R7196:Smco1 UTSW 16 32,092,620 (GRCm39) missense probably damaging 1.00
R7227:Smco1 UTSW 16 32,092,833 (GRCm39) missense possibly damaging 0.93
R7587:Smco1 UTSW 16 32,092,541 (GRCm39) missense probably benign 0.01
R7923:Smco1 UTSW 16 32,092,865 (GRCm39) missense possibly damaging 0.58
R8247:Smco1 UTSW 16 32,092,557 (GRCm39) missense probably benign 0.06
R8684:Smco1 UTSW 16 32,092,841 (GRCm39) missense probably damaging 0.96
Z1088:Smco1 UTSW 16 32,092,033 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATACAGCTATGTCATCGAGGTCC -3'
(R):5'- GCATCAACTCTTTTAGGGGTGC -3'

Sequencing Primer
(F):5'- TGCACACTCGAATGCTTCAG -3'
(R):5'- GCCCTTGAGTTTTCAGGGTCC -3'
Posted On 2019-10-17