Incidental Mutation 'IGL01578:Sun3'
ID 91332
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sun3
Ensembl Gene ENSMUSG00000040985
Gene Name Sad1 and UNC84 domain containing 3
Synonyms Sunc1, D630047F21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL01578
Quality Score
Status
Chromosome 11
Chromosomal Location 9016054-9048991 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9029436 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 28 (E28D)
Ref Sequence ENSEMBL: ENSMUSP00000099973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043377] [ENSMUST00000102909]
AlphaFold Q5SS91
Predicted Effect probably damaging
Transcript: ENSMUST00000043377
AA Change: E88D

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045199
Gene: ENSMUSG00000040985
AA Change: E88D

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Sad1_UNC 182 316 3.4e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102909
AA Change: E28D

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099973
Gene: ENSMUSG00000040985
AA Change: E28D

DomainStartEndE-ValueType
Pfam:Sad1_UNC 122 256 3.2e-48 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,270,710 E3167G unknown Het
Arhgap28 G A 17: 67,858,200 T516I probably benign Het
Birc6 T C 17: 74,648,197 C3486R probably benign Het
Camk2g G A 14: 20,747,854 probably benign Het
Dmxl1 T A 18: 49,962,205 H2950Q probably damaging Het
Eml6 A T 11: 29,850,870 S379T probably benign Het
Epb41l3 C T 17: 69,248,709 H13Y probably damaging Het
Fam149a A T 8: 45,350,442 D337E probably damaging Het
Galnt14 T A 17: 73,535,366 probably benign Het
Gm6489 G T 1: 31,287,335 noncoding transcript Het
Hspg2 G A 4: 137,539,183 R1885H probably damaging Het
Jag1 T A 2: 137,100,051 probably benign Het
Nalcn A T 14: 123,572,091 N216K probably benign Het
Ndst1 T C 18: 60,713,126 Y37C probably damaging Het
Nr2c2 A G 6: 92,162,038 N486S probably benign Het
Obscn A T 11: 58,999,680 L7342Q unknown Het
Olfr1051 C A 2: 86,275,741 V249F probably damaging Het
Olfr1402 A T 3: 97,410,720 C154S probably damaging Het
Olfr661 A G 7: 104,688,845 I277V probably benign Het
Pou4f2 A C 8: 78,435,655 D106E probably damaging Het
Ppic G A 18: 53,417,929 P10S unknown Het
Psd2 A G 18: 35,979,785 T178A probably damaging Het
Slc25a34 G T 4: 141,622,510 probably null Het
Stap2 A G 17: 55,997,623 S360P probably benign Het
Stx3 T C 19: 11,786,605 E129G probably damaging Het
Tmem126a C T 7: 90,451,542 probably null Het
Trove2 A T 1: 143,761,300 N391K probably damaging Het
Trpc6 A T 9: 8,634,057 H379L probably damaging Het
Ttf2 A G 3: 100,956,195 S608P possibly damaging Het
Tubgcp3 T C 8: 12,661,297 probably benign 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
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
R5163:Sun3 UTSW 11 9023295 missense possibly damaging 0.89
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
R8022:Sun3 UTSW 11 9023376 missense probably damaging 1.00
R8134:Sun3 UTSW 11 9029346 missense probably benign 0.00
R9130:Sun3 UTSW 11 9018170 missense probably benign 0.13
R9454:Sun3 UTSW 11 9038281 missense probably benign
Posted On 2013-12-09