Incidental Mutation 'IGL02528:Susd6'
ID 297201
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 # IGL02528
Quality Score
Status
Chromosome 12
Chromosomal Location 80837306-80927607 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80916945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 160 (V160A)
Ref Sequence ENSEMBL: ENSMUSP00000151831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068519] [ENSMUST00000220238]
AlphaFold Q8BGE4
Predicted Effect probably damaging
Transcript: ENSMUST00000068519
AA Change: V139A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064961
Gene: ENSMUSG00000021133
AA Change: V139A

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 probably damaging
Transcript: ENSMUST00000220238
AA Change: V160A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T A 6: 65,930,357 (GRCm39) probably benign Het
4933416I08Rik T A X: 52,580,792 (GRCm39) N54I probably damaging Het
Abcc2 A G 19: 43,786,943 (GRCm39) D188G probably benign Het
Akap11 T C 14: 78,748,307 (GRCm39) Y1360C probably damaging Het
Bltp2 T C 11: 78,162,802 (GRCm39) V888A possibly damaging Het
C920021L13Rik A G 3: 95,794,628 (GRCm39) probably benign Het
Ccdc89 A T 7: 90,076,819 (GRCm39) Q343L probably damaging Het
Cep350 A T 1: 155,770,361 (GRCm39) M1843K probably damaging Het
Ces2b T C 8: 105,561,601 (GRCm39) S232P probably damaging Het
Eprs1 G T 1: 185,145,686 (GRCm39) R1165L probably damaging Het
Ercc5 A G 1: 44,206,962 (GRCm39) E625G probably benign Het
Evi5l T C 8: 4,243,172 (GRCm39) V352A probably benign Het
Ggt5 T C 10: 75,446,254 (GRCm39) probably benign Het
Gm11564 T A 11: 99,706,293 (GRCm39) R46* probably null Het
Herc2 A G 7: 55,758,641 (GRCm39) probably benign Het
Kash5 T C 7: 44,833,170 (GRCm39) probably benign Het
Kcnh8 A G 17: 53,110,556 (GRCm39) S256G probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Mast4 T C 13: 102,990,331 (GRCm39) *255W probably null Het
Muc5b A G 7: 141,417,754 (GRCm39) M3567V probably benign Het
Noxa1 A G 2: 24,980,645 (GRCm39) probably benign Het
Nsd2 T C 5: 34,036,395 (GRCm39) probably benign Het
Pcna-ps2 A T 19: 9,261,331 (GRCm39) I197L probably benign Het
Pde8a A G 7: 80,942,937 (GRCm39) probably benign Het
Polr1a C A 6: 71,941,701 (GRCm39) Q1070K probably benign Het
Pum2 G T 12: 8,778,696 (GRCm39) G449* probably null Het
Rab29 T C 1: 131,797,749 (GRCm39) probably benign Het
Rpap1 T A 2: 119,605,431 (GRCm39) probably null Het
Scn7a A G 2: 66,530,519 (GRCm39) Y609H probably damaging Het
Slit3 T C 11: 35,469,801 (GRCm39) S268P probably benign Het
Stat2 C T 10: 128,126,534 (GRCm39) T753I probably benign Het
Tex52 A G 6: 128,356,460 (GRCm39) E51G possibly damaging Het
Tmem102 T A 11: 69,694,532 (GRCm39) probably null Het
Ttn A G 2: 76,720,582 (GRCm39) probably benign Het
Ubtd2 T A 11: 32,449,249 (GRCm39) L32* probably null Het
Usp38 T C 8: 81,719,864 (GRCm39) Y455C probably damaging Het
Wwp2 T C 8: 108,281,099 (GRCm39) F671L probably benign Het
Xlr3a T C X: 72,138,573 (GRCm39) N29D possibly damaging Het
Zan T C 5: 137,463,403 (GRCm39) E592G possibly damaging Het
Zmat4 T A 8: 24,505,212 (GRCm39) S151T probably damaging Het
Znfx1 T C 2: 166,892,324 (GRCm39) T631A probably benign Het
Other mutations in Susd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Susd6 APN 12 80,916,841 (GRCm39) splice site probably benign
IGL01527:Susd6 APN 12 80,921,093 (GRCm39) missense possibly damaging 0.84
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 2015-04-16