Incidental Mutation 'R5163:Sun3'
ID475477
Institutional Source Beutler Lab
Gene Symbol Sun3
Ensembl Gene ENSMUSG00000040985
Gene NameSad1 and UNC84 domain containing 3
SynonymsSunc1, D630047F21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #R5163 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location9016054-9048991 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 9023295 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 134 (Q134R)
Ref Sequence ENSEMBL: ENSMUSP00000099973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043377] [ENSMUST00000102909]
Predicted Effect possibly damaging
Transcript: ENSMUST00000043377
AA Change: Q194R

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045199
Gene: ENSMUSG00000040985
AA Change: Q194R

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Sad1_UNC 182 316 3.4e-48 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102909
AA Change: Q134R

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099973
Gene: ENSMUSG00000040985
AA Change: Q134R

DomainStartEndE-ValueType
Pfam:Sad1_UNC 122 256 3.2e-48 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,164,546 E685* probably null Het
2700049A03Rik A T 12: 71,164,547 E685V possibly damaging Het
Bcor C T X: 12,040,486 R1551Q probably damaging Het
Btbd19 T G 4: 117,121,431 I152L probably damaging Het
Ercc6l2 A G 13: 63,899,031 probably benign Het
Fat4 A G 3: 38,980,797 D2866G probably damaging Het
Fkbp10 C T 11: 100,423,099 A311V probably benign Het
Fnbp1l T C 3: 122,544,663 N511S probably benign Het
Gkn3 C T 6: 87,383,525 A163T probably damaging Het
Gltp A G 5: 114,674,061 I147T probably benign Het
Gpr37 A T 6: 25,669,615 I410N possibly damaging Het
Hivep2 G A 10: 14,139,425 G1779R probably damaging Het
Ifna14 T C 4: 88,571,362 Y146C probably damaging Het
Loxhd1 A G 18: 77,361,736 D662G possibly damaging Het
Lrrc6 T C 15: 66,442,218 D311G probably benign Het
Lrrc9 A T 12: 72,449,389 I13F probably damaging Het
Map2k3 T A 11: 60,943,491 I95N probably damaging Het
Mark1 A G 1: 184,905,610 I594T probably damaging Het
Mettl14 T C 3: 123,374,825 I189V possibly damaging Het
Msh2 C A 17: 87,723,413 A906E probably benign Het
Odf4 C A 11: 68,922,846 C133F probably damaging Het
Olfr976 T C 9: 39,956,920 N5S probably damaging Het
Opa1 A T 16: 29,597,620 Q106L probably damaging Het
Pax4 T G 6: 28,446,270 S75R probably damaging Het
Ppfibp1 T A 6: 147,022,131 probably null Het
Ptpn20 T C 14: 33,631,111 I269T probably benign Het
Ptprq T C 10: 107,524,331 Q2161R probably damaging Het
Rab22a A G 2: 173,661,487 D31G probably damaging Het
Rap1gds1 A T 3: 138,959,056 M296K probably damaging Het
Rfx1 A G 8: 84,093,211 T692A probably damaging Het
Sf3b2 A G 19: 5,275,137 V769A probably damaging Het
Skint5 A T 4: 113,795,565 F621I unknown Het
Spink5 A C 18: 43,999,857 R513S possibly damaging Het
Srrm2 C T 17: 23,819,550 probably benign Het
Srrt A G 5: 137,296,773 probably null Het
Tpo A G 12: 30,105,980 V174A probably benign Het
Ucp1 A G 8: 83,294,203 R183G possibly damaging Het
Vmn2r66 A G 7: 85,006,809 V333A probably benign Het
Wdr60 C T 12: 116,255,866 R152H possibly damaging Het
Zfp108 G T 7: 24,260,738 K251N probably benign Het
Zfp936 A G 7: 43,190,240 Q377R probably damaging Het
Zkscan2 T C 7: 123,499,867 E34G probably benign Het
Zufsp T A 10: 33,949,443 E14D probably damaging Het
Other mutations in Sun3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Sun3 APN 11 9023341 missense possibly damaging 0.91
IGL01473:Sun3 APN 11 9029394 missense probably benign 0.00
IGL01578:Sun3 APN 11 9029436 missense probably damaging 0.98
IGL03340:Sun3 APN 11 9023285 splice site probably benign
R1944:Sun3 UTSW 11 9038296 missense probably benign 0.00
R1945:Sun3 UTSW 11 9038296 missense probably benign 0.00
R2233:Sun3 UTSW 11 9023371 nonsense probably null
R4356:Sun3 UTSW 11 9016328 missense probably damaging 1.00
R4784:Sun3 UTSW 11 9038266 missense probably benign 0.00
R4785:Sun3 UTSW 11 9038266 missense probably benign 0.00
R4975:Sun3 UTSW 11 9038311 nonsense probably null
R5022:Sun3 UTSW 11 9038314 missense probably damaging 0.96
R5134:Sun3 UTSW 11 9038287 missense probably benign 0.04
R5358:Sun3 UTSW 11 9031496 missense possibly damaging 0.90
R5668:Sun3 UTSW 11 9031433 critical splice donor site probably null
R6621:Sun3 UTSW 11 9016242 missense probably damaging 1.00
R7442:Sun3 UTSW 11 9031445 missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- AAGAAGTGTCTAGGTTCTGTAGGC -3'
(R):5'- AGCCCTGGCCTAACTGAATC -3'

Sequencing Primer
(F):5'- TATGAGTACACTGTAGCTGTCTTCAG -3'
(R):5'- TGGCCTAACTGAATCCCAATGG -3'
Posted On2017-04-24