Incidental Mutation 'IGL03336:Susd3'
ID417054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Susd3
Ensembl Gene ENSMUSG00000021384
Gene Namesushi domain containing 3
Synonyms2810440J20Rik, 1700017I11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL03336
Quality Score
Status
Chromosome13
Chromosomal Location49230690-49248706 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 49238782 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 144 (S144R)
Ref Sequence ENSEMBL: ENSMUSP00000113631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021816] [ENSMUST00000058196] [ENSMUST00000119721] [ENSMUST00000135784]
Predicted Effect probably benign
Transcript: ENSMUST00000021816
SMART Domains Protein: ENSMUSP00000021816
Gene: ENSMUSG00000021384

DomainStartEndE-ValueType
CCP 20 79 2.11e-9 SMART
transmembrane domain 95 117 N/A INTRINSIC
low complexity region 154 179 N/A INTRINSIC
low complexity region 218 231 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000058196
SMART Domains Protein: ENSMUSP00000061423
Gene: ENSMUSG00000021384

DomainStartEndE-ValueType
CCP 32 91 2.11e-9 SMART
transmembrane domain 107 129 N/A INTRINSIC
low complexity region 166 191 N/A INTRINSIC
low complexity region 230 243 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119721
AA Change: S144R

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113631
Gene: ENSMUSG00000021384
AA Change: S144R

DomainStartEndE-ValueType
CCP 32 91 2.11e-9 SMART
transmembrane domain 107 129 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131880
Predicted Effect probably benign
Transcript: ENSMUST00000135784
SMART Domains Protein: ENSMUSP00000115888
Gene: ENSMUSG00000021384

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
low complexity region 91 116 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141408
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 60,016,402 V63A probably benign Het
Ankrd11 A G 8: 122,891,843 S1757P probably benign Het
Atp8a1 G T 5: 67,729,807 Y629* probably null Het
Cenpf T C 1: 189,652,647 K2479E probably damaging Het
Clip1 G T 5: 123,653,570 S179* probably null Het
Cmya5 A G 13: 93,093,505 S1692P possibly damaging Het
Cyp17a1 T C 19: 46,671,035 S119G probably benign Het
Fndc5 T C 4: 129,139,918 F160L probably benign Het
Muc5b T C 7: 141,864,363 V3682A probably damaging Het
Myh8 G T 11: 67,284,702 D328Y probably damaging Het
Olfr1226 T C 2: 89,193,897 T46A probably benign Het
Olfr566 C T 7: 102,856,616 C222Y probably benign Het
Olfr633 T C 7: 103,947,409 L281P probably damaging Het
Olfr713 T A 7: 107,036,335 M60K probably damaging Het
Olfr772 T C 10: 129,174,229 E264G probably benign Het
Paxbp1 T C 16: 91,034,172 I439V probably benign Het
Pcdhb3 T C 18: 37,302,961 V660A possibly damaging Het
Pcyt2 T C 11: 120,615,932 D32G probably damaging Het
Pdzph1 A T 17: 58,974,234 V351D probably benign Het
Ribc2 C T 15: 85,132,913 Q51* probably null Het
Scn2a A G 2: 65,688,744 E438G probably damaging Het
Slc18a3 T C 14: 32,462,828 probably benign Het
Slc5a1 G A 5: 33,146,943 V296I probably benign Het
Slit3 A T 11: 35,670,101 T958S probably damaging Het
Spag8 C T 4: 43,652,114 probably benign Het
Synpo2 T C 3: 123,114,179 E496G possibly damaging Het
Tbcel T C 9: 42,439,131 T269A probably benign Het
Tmem156 A G 5: 65,075,764 Y152H probably benign Het
Tmem247 A G 17: 86,918,429 E99G probably damaging Het
Tuba3b A G 6: 145,619,724 D306G possibly damaging Het
Vps13c T A 9: 67,951,642 D2791E possibly damaging Het
Ypel4 A G 2: 84,737,527 Y98C probably damaging Het
Other mutations in Susd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Susd3 APN 13 49231138 makesense probably null
R2122:Susd3 UTSW 13 49231150 missense probably damaging 1.00
R2343:Susd3 UTSW 13 49238859 missense probably damaging 0.99
R2923:Susd3 UTSW 13 49248469 start codon destroyed probably null 0.95
R4591:Susd3 UTSW 13 49231260 missense possibly damaging 0.57
R4661:Susd3 UTSW 13 49231302 splice site probably null
R5006:Susd3 UTSW 13 49238705 intron probably benign
R5841:Susd3 UTSW 13 49238726 intron probably benign
R6285:Susd3 UTSW 13 49237521 missense probably damaging 1.00
R6796:Susd3 UTSW 13 49237565 frame shift probably null
R7193:Susd3 UTSW 13 49231203 missense probably damaging 1.00
R7311:Susd3 UTSW 13 49248430 missense probably benign 0.00
R7572:Susd3 UTSW 13 49231162 missense probably benign 0.31
R7697:Susd3 UTSW 13 49237598 missense probably damaging 1.00
R8239:Susd3 UTSW 13 49231255 missense probably benign
R8479:Susd3 UTSW 13 49237476 missense probably benign 0.10
Posted On2016-08-02