Incidental Mutation 'IGL01527:Susd6'
ID 89606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Susd6
Ensembl Gene ENSMUSG00000021133
Gene Name sushi domain containing 6
Synonyms 4933426M11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01527
Quality Score
Status
Chromosome 12
Chromosomal Location 80837306-80927607 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80921093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 230 (N230I)
Ref Sequence ENSEMBL: ENSMUSP00000151831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068519] [ENSMUST00000220238]
AlphaFold Q8BGE4
Predicted Effect probably benign
Transcript: ENSMUST00000068519
AA Change: N209I

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000064961
Gene: ENSMUSG00000021133
AA Change: N209I

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
CCP 42 102 9.1e-14 SMART
transmembrane domain 119 141 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219720
Predicted Effect possibly damaging
Transcript: ENSMUST00000220238
AA Change: N230I

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are viable and fertile and do not show any notable developmental defects nor any increased susceptibility to tumor formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G T 17: 35,878,730 (GRCm39) probably null Het
Abca13 T A 11: 9,240,788 (GRCm39) W884R possibly damaging Het
Ahi1 T C 10: 20,835,984 (GRCm39) probably benign Het
Ankfn1 G T 11: 89,282,465 (GRCm39) P394Q probably benign Het
Cacnb2 T C 2: 14,989,081 (GRCm39) I393T possibly damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Col22a1 T C 15: 71,778,880 (GRCm39) E269G probably damaging Het
Cyp24a1 A G 2: 170,338,486 (GRCm39) L70P probably damaging Het
Cyp8b1 T C 9: 121,744,061 (GRCm39) K424E probably damaging Het
Dicer1 G A 12: 104,657,869 (GRCm39) Q1902* probably null Het
Dst T A 1: 34,286,734 (GRCm39) L544Q probably damaging Het
Esrp2 T C 8: 106,858,865 (GRCm39) T591A probably benign Het
Gap43 C T 16: 42,112,516 (GRCm39) E82K probably benign Het
Ift70a1 T C 2: 75,810,860 (GRCm39) I408V probably benign Het
Kif17 G A 4: 137,996,397 (GRCm39) V125I probably benign Het
Lancl2 T C 6: 57,709,307 (GRCm39) S370P probably damaging Het
Macf1 T C 4: 123,386,953 (GRCm39) I203V possibly damaging Het
Mphosph9 A G 5: 124,421,687 (GRCm39) probably benign Het
Ncapg A G 5: 45,829,726 (GRCm39) I143V possibly damaging Het
Nr3c1 A G 18: 39,619,690 (GRCm39) V199A probably benign Het
Obscn T A 11: 58,955,243 (GRCm39) N3890I possibly damaging Het
Or2g7 A G 17: 38,378,986 (GRCm39) N308S probably benign Het
Or2h2c A T 17: 37,422,701 (GRCm39) Y58N probably damaging Het
Or52n5 T A 7: 104,588,198 (GRCm39) V155E possibly damaging Het
Or8g32 A G 9: 39,305,114 (GRCm39) H6R probably benign Het
Palmd C A 3: 116,720,837 (GRCm39) E166* probably null Het
Pdzd2 T C 15: 12,445,750 (GRCm39) E327G probably damaging Het
Pex13 T C 11: 23,606,111 (GRCm39) T40A probably benign Het
Pkd2 T C 5: 104,646,750 (GRCm39) probably benign Het
Plb1 A G 5: 32,474,467 (GRCm39) T643A probably damaging Het
Prlr T A 15: 10,329,257 (GRCm39) D577E probably benign Het
Rimoc1 T C 15: 4,018,165 (GRCm39) Y170C probably damaging Het
Slc44a3 A G 3: 121,320,777 (GRCm39) C75R probably damaging Het
Tbx10 A G 19: 4,048,227 (GRCm39) R251G probably damaging Het
Uap1l1 A G 2: 25,253,816 (GRCm39) probably null Het
Ugt2b5 A G 5: 87,284,068 (GRCm39) V308A possibly damaging Het
Usp28 C A 9: 48,937,173 (GRCm39) H147Q probably benign Het
Vmn1r203 T C 13: 22,708,447 (GRCm39) I76T possibly damaging Het
Vmn2r104 A G 17: 20,263,158 (GRCm39) I101T possibly damaging Het
Vmn2r17 T A 5: 109,601,006 (GRCm39) L768H probably damaging Het
Other mutations in Susd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Susd6 APN 12 80,916,841 (GRCm39) splice site probably benign
IGL02528:Susd6 APN 12 80,916,945 (GRCm39) missense probably damaging 1.00
R1792:Susd6 UTSW 12 80,921,065 (GRCm39) missense probably damaging 1.00
R3028:Susd6 UTSW 12 80,921,234 (GRCm39) missense probably damaging 0.99
R5613:Susd6 UTSW 12 80,915,308 (GRCm39) missense probably damaging 1.00
R6128:Susd6 UTSW 12 80,915,388 (GRCm39) missense possibly damaging 0.47
R7611:Susd6 UTSW 12 80,921,341 (GRCm39) missense probably damaging 1.00
R8416:Susd6 UTSW 12 80,897,997 (GRCm39) missense probably benign
R9259:Susd6 UTSW 12 80,898,030 (GRCm39) missense probably benign
Posted On 2013-12-03