Incidental Mutation 'IGL01473:Sun3'
ID88339
Institutional Source Australian Phenomics Network (link to record)
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: 0.053) question?
Stock #IGL01473
Quality Score
Status
Chromosome11
Chromosomal Location9016054-9048991 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 9029394 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 42 (D42E)
Ref Sequence ENSEMBL: ENSMUSP00000099973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043377] [ENSMUST00000102909]
Predicted Effect probably benign
Transcript: ENSMUST00000043377
AA Change: D102E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000045199
Gene: ENSMUSG00000040985
AA Change: D102E

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Sad1_UNC 182 316 3.4e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102909
AA Change: D42E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099973
Gene: ENSMUSG00000040985
AA Change: D42E

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 T C 16: 29,316,724 Y350C probably damaging Het
Ccdc151 C A 9: 21,995,379 probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Clcn1 C A 6: 42,291,703 A181D probably damaging Het
Cylc1 G T X: 111,122,680 K243N unknown Het
Dsp A G 13: 38,167,571 Y122C probably damaging Het
Exoc5 A G 14: 49,014,294 V665A possibly damaging Het
Fcho1 G A 8: 71,712,138 P500S probably benign Het
Flg2 A G 3: 93,203,020 E785G unknown Het
Fpr1 A G 17: 17,877,692 S12P possibly damaging Het
Hydin A T 8: 110,312,160 M177L probably benign Het
Hydin G T 8: 110,354,953 G327V probably damaging Het
Itga10 G A 3: 96,647,641 G97E probably damaging Het
Khdc1c T A 1: 21,368,906 Y39N possibly damaging Het
Lrp1b T G 2: 40,611,486 T202P probably damaging Het
March10 T C 11: 105,389,605 K618R probably damaging Het
Mdc1 C A 17: 35,848,020 L431I probably benign Het
Mmp17 A G 5: 129,606,408 D536G probably benign Het
Myh8 G A 11: 67,301,825 probably null Het
Pop4 A G 7: 38,264,396 V154A probably benign Het
Ppp1r13l C T 7: 19,375,268 R608C probably damaging Het
Prss36 T C 7: 127,944,701 H166R probably damaging Het
Rab11fip3 C T 17: 26,068,735 R148Q possibly damaging Het
Rbm39 T A 2: 156,172,979 R49* probably null Het
S100a11 T C 3: 93,526,106 C86R probably damaging Het
Skint7 T C 4: 111,982,205 I232T probably damaging Het
Smchd1 G A 17: 71,389,750 T1210I probably benign Het
Speg C T 1: 75,428,285 T2907I possibly damaging Het
Spz1 A T 13: 92,575,256 C237* probably null Het
Tgds C T 14: 118,128,214 probably benign Het
Tnxb G A 17: 34,685,701 D1270N probably damaging Het
Vmn2r78 A C 7: 86,920,312 T138P possibly damaging Het
Wdfy1 T C 1: 79,707,465 I351V probably benign Het
Other mutations in Sun3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Sun3 APN 11 9023341 missense possibly damaging 0.91
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
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
Posted On2013-11-18