Incidental Mutation 'R8983:Smco3'
ID 683821
Institutional Source Beutler Lab
Gene Symbol Smco3
Ensembl Gene ENSMUSG00000043298
Gene Name single-pass membrane protein with coiled-coil domains 3
Synonyms C030030A07Rik
MMRRC Submission 068816-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R8983 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 136806929-136812448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 136808730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 48 (G48D)
Ref Sequence ENSEMBL: ENSMUSP00000066235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052702] [ENSMUST00000068293] [ENSMUST00000111894] [ENSMUST00000116514] [ENSMUST00000146348] [ENSMUST00000203468] [ENSMUST00000203499] [ENSMUST00000204086] [ENSMUST00000204272]
AlphaFold Q8BQM7
Predicted Effect probably benign
Transcript: ENSMUST00000052702
SMART Domains Protein: ENSMUSP00000049512
Gene: ENSMUSG00000047515

DomainStartEndE-ValueType
Pfam:DUF4533 8 235 1.3e-64 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000068293
AA Change: G48D

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066235
Gene: ENSMUSG00000043298
AA Change: G48D

DomainStartEndE-ValueType
Pfam:DUF4533 14 221 1.9e-83 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111894
AA Change: G48D

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107525
Gene: ENSMUSG00000043298
AA Change: G48D

DomainStartEndE-ValueType
Pfam:DUF4533 14 221 2.4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116514
SMART Domains Protein: ENSMUSP00000112213
Gene: ENSMUSG00000030216

DomainStartEndE-ValueType
Pfam:Wbp11 12 94 1e-26 PFAM
low complexity region 191 209 N/A INTRINSIC
low complexity region 263 284 N/A INTRINSIC
low complexity region 344 367 N/A INTRINSIC
low complexity region 380 532 N/A INTRINSIC
low complexity region 549 565 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146348
Predicted Effect possibly damaging
Transcript: ENSMUST00000203468
AA Change: G48D

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144838
Gene: ENSMUSG00000043298
AA Change: G48D

DomainStartEndE-ValueType
Pfam:DUF4533 14 221 2.4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203499
SMART Domains Protein: ENSMUSP00000145015
Gene: ENSMUSG00000047515

DomainStartEndE-ValueType
Pfam:DUF4533 8 235 1.6e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204086
Predicted Effect probably benign
Transcript: ENSMUST00000204272
SMART Domains Protein: ENSMUSP00000145501
Gene: ENSMUSG00000030216

DomainStartEndE-ValueType
Pfam:Wbp11 12 94 3.8e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A T 2: 151,313,272 (GRCm39) F632I unknown Het
5730522E02Rik T C 11: 25,719,069 (GRCm39) T26A unknown Het
Ablim1 A T 19: 57,227,644 (GRCm39) V7E probably benign Het
Adcy5 T G 16: 34,977,232 (GRCm39) L255R possibly damaging Het
Ahnak C A 19: 8,981,477 (GRCm39) N920K possibly damaging Het
Arhgef11 A G 3: 87,640,508 (GRCm39) K1251E Het
Astn1 T A 1: 158,491,700 (GRCm39) probably null Het
Atxn2 A G 5: 121,916,063 (GRCm39) Y423C probably damaging Het
Ccdc180 T A 4: 45,909,359 (GRCm39) V509D possibly damaging Het
Ccdc80 T C 16: 44,924,780 (GRCm39) V638A possibly damaging Het
Ccr6 T G 17: 8,474,878 (GRCm39) C28G probably damaging Het
Cdca7l A G 12: 117,828,902 (GRCm39) probably benign Het
Cnot3 T C 7: 3,654,328 (GRCm39) I52T probably damaging Het
Cped1 A T 6: 22,138,686 (GRCm39) N555I probably benign Het
Cpne6 A T 14: 55,753,711 (GRCm39) I390F probably damaging Het
Dlec1 A G 9: 118,957,419 (GRCm39) D836G probably benign Het
Dnah8 T A 17: 31,070,628 (GRCm39) V4438D probably damaging Het
Dok3 G T 13: 55,671,535 (GRCm39) N345K probably damaging Het
Eea1 C T 10: 95,855,741 (GRCm39) Q593* probably null Het
Eif3m T C 2: 104,830,139 (GRCm39) Y351C possibly damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Epn3 T C 11: 94,386,914 (GRCm39) E152G probably damaging Het
Faf2 A G 13: 54,769,726 (GRCm39) S25G probably benign Het
Fam83b A G 9: 76,400,357 (GRCm39) S249P probably damaging Het
Fgl1 A T 8: 41,653,496 (GRCm39) S132R probably benign Het
Frem3 A G 8: 81,395,875 (GRCm39) E1890G probably damaging Het
Gpc5 T A 14: 115,330,118 (GRCm39) S94T unknown Het
Hectd1 A G 12: 51,791,410 (GRCm39) V2584A probably damaging Het
Kifc3 G A 8: 95,833,104 (GRCm39) A498V probably damaging Het
Klra6 T C 6: 129,999,573 (GRCm39) T132A probably benign Het
Loricrin T C 3: 91,988,446 (GRCm39) Y280C unknown Het
Lpin2 C T 17: 71,553,962 (GRCm39) A931V unknown Het
Lpxn A G 19: 12,810,522 (GRCm39) H322R probably damaging Het
Megf9 A G 4: 70,353,634 (GRCm39) S391P probably benign Het
Mipep G A 14: 61,080,702 (GRCm39) V565I probably benign Het
Mmrn1 C T 6: 60,953,042 (GRCm39) T441I probably benign Het
Mrpl48 T C 7: 100,223,702 (GRCm39) N14S probably benign Het
Ncald A G 15: 37,397,512 (GRCm39) F56S probably damaging Het
Or9g3 T C 2: 85,584,251 (GRCm39) probably benign Het
Pals1 G A 12: 78,884,298 (GRCm39) D640N probably damaging Het
Plcd3 A G 11: 102,962,092 (GRCm39) V703A possibly damaging Het
Potefam1 A G 2: 111,030,701 (GRCm39) S403P probably benign Het
Prss59 A G 6: 40,897,934 (GRCm39) S250P possibly damaging Het
Qser1 T C 2: 104,617,702 (GRCm39) I947V probably benign Het
Rdx G A 9: 51,974,905 (GRCm39) A14T probably damaging Het
Rnf213 A G 11: 119,321,175 (GRCm39) D1211G Het
Sbpl T C 17: 24,172,253 (GRCm39) D222G unknown Het
Scn8a C A 15: 100,900,030 (GRCm39) T703K possibly damaging Het
Setbp1 A G 18: 78,902,459 (GRCm39) S403P probably benign Het
Sfmbt2 A G 2: 10,409,267 (GRCm39) S71G probably damaging Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,775 (GRCm39) probably benign Het
Spag9 T C 11: 93,958,815 (GRCm39) S280P probably benign Het
Thada T C 17: 84,538,515 (GRCm39) T1498A probably benign Het
Tmprss7 T C 16: 45,481,263 (GRCm39) D641G probably damaging Het
Top6bl T C 19: 4,695,714 (GRCm39) I513V possibly damaging Het
Trim43a A G 9: 88,464,404 (GRCm39) D105G probably benign Het
Utp14b T A 1: 78,643,003 (GRCm39) N300K probably benign Het
Vmn2r83 T G 10: 79,327,360 (GRCm39) I656S probably damaging Het
Zfp646 A T 7: 127,480,777 (GRCm39) M985L probably benign Het
Zfp777 A T 6: 48,006,158 (GRCm39) L412Q probably damaging Het
Other mutations in Smco3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02037:Smco3 APN 6 136,808,197 (GRCm39) makesense probably null
R1928:Smco3 UTSW 6 136,808,845 (GRCm39) nonsense probably null
R3407:Smco3 UTSW 6 136,808,425 (GRCm39) missense probably benign 0.36
R4348:Smco3 UTSW 6 136,808,692 (GRCm39) missense possibly damaging 0.81
R4735:Smco3 UTSW 6 136,808,636 (GRCm39) missense probably damaging 1.00
R5744:Smco3 UTSW 6 136,808,763 (GRCm39) missense probably damaging 1.00
R7716:Smco3 UTSW 6 136,808,247 (GRCm39) missense probably damaging 1.00
R9224:Smco3 UTSW 6 136,808,517 (GRCm39) missense probably damaging 1.00
R9234:Smco3 UTSW 6 136,808,410 (GRCm39) missense probably damaging 1.00
X0066:Smco3 UTSW 6 136,808,532 (GRCm39) missense probably damaging 1.00
Z1177:Smco3 UTSW 6 136,808,691 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CGATGGCAATCTTCTCCGTC -3'
(R):5'- GGCTAGAGTCATGAAGGTACTCTG -3'

Sequencing Primer
(F):5'- GTCTCCCTTTCCTTAATATCCTGCAG -3'
(R):5'- CATGAAGGTACTCTGAGCTGATTTCC -3'
Posted On 2021-10-11