Incidental Mutation 'IGL01752:Ssu2'
ID153395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ssu2
Ensembl Gene ENSMUSG00000034387
Gene Namessu-2 homolog (C. elegans)
SynonymsD630042P16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL01752
Quality Score
Status
Chromosome6
Chromosomal Location112359324-112388023 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 112375592 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 279 (K279N)
Ref Sequence ENSEMBL: ENSMUSP00000052328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060847]
Predicted Effect probably damaging
Transcript: ENSMUST00000060847
AA Change: K279N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052328
Gene: ENSMUSG00000034387
AA Change: K279N

DomainStartEndE-ValueType
internal_repeat_1 177 194 6.13e-5 PROSPERO
internal_repeat_1 188 205 6.13e-5 PROSPERO
low complexity region 214 234 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143134
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice heterozygous or homozygous for a knock-in allele exhibit abnormal tooth morphology, narrowed pulp cavity, increased dentin thickness, abnormal tooth attrition and collagenous attachment to the gum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,509,878 probably null Het
Btbd11 C A 10: 85,654,502 Q1011K probably damaging Het
Cdh4 A T 2: 179,890,884 N713I probably damaging Het
Cdkl4 T A 17: 80,543,614 probably benign Het
Ddx21 A G 10: 62,587,507 S639P probably damaging Het
Dock3 T C 9: 107,025,313 probably benign Het
Fan1 G A 7: 64,372,794 T237M probably benign Het
Fbn2 T A 18: 58,075,977 probably null Het
Fhad1 T C 4: 141,972,899 K347E possibly damaging Het
Gucy2c C A 6: 136,770,108 A118S probably benign Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Lox A G 18: 52,520,854 V390A possibly damaging Het
Lyn A T 4: 3,743,286 M69L probably benign Het
Mrgprb5 A G 7: 48,168,667 F107L probably benign Het
Neurod2 T C 11: 98,327,375 E321G possibly damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pcnx3 T A 19: 5,665,337 K1962* probably null Het
Pde3a T C 6: 141,487,613 probably benign Het
Phf10 A G 17: 14,954,950 probably benign Het
Prune2 A G 19: 17,123,903 E2257G possibly damaging Het
Rock1 A G 18: 10,079,113 probably null Het
Slc4a11 T G 2: 130,688,145 T238P probably damaging Het
Tead3 A T 17: 28,333,594 I275N probably damaging Het
Ttn T C 2: 76,744,793 E25252G probably damaging Het
Twsg1 T C 17: 65,929,784 T84A probably benign Het
Ugt3a1 A T 15: 9,306,146 K127M probably damaging Het
Unc13c A T 9: 73,931,811 M586K probably benign Het
Vmn1r195 G T 13: 22,279,251 C297F probably benign Het
Vps13c T A 9: 67,948,228 I2525N probably damaging Het
Zdhhc2 G A 8: 40,473,001 A346T probably benign Het
Zfp52 T G 17: 21,560,150 C87G probably benign Het
Other mutations in Ssu2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Ssu2 APN 6 112374882 missense probably damaging 1.00
IGL02820:Ssu2 APN 6 112382392 missense probably benign 0.13
R0047:Ssu2 UTSW 6 112374820 missense probably damaging 1.00
R0047:Ssu2 UTSW 6 112374820 missense probably damaging 1.00
R0551:Ssu2 UTSW 6 112380554 missense possibly damaging 0.86
R0931:Ssu2 UTSW 6 112384398 missense probably damaging 1.00
R1350:Ssu2 UTSW 6 112374846 nonsense probably null
R1512:Ssu2 UTSW 6 112387998 start codon destroyed probably null 0.91
R1908:Ssu2 UTSW 6 112384427 missense probably benign 0.00
R2013:Ssu2 UTSW 6 112383941 missense possibly damaging 0.85
R2915:Ssu2 UTSW 6 112377605 nonsense probably null
R4526:Ssu2 UTSW 6 112382422 missense possibly damaging 0.73
R4782:Ssu2 UTSW 6 112376450 missense probably damaging 1.00
R5099:Ssu2 UTSW 6 112359624 missense probably benign 0.34
R5396:Ssu2 UTSW 6 112380996 missense probably damaging 0.99
R6223:Ssu2 UTSW 6 112376448 nonsense probably null
R6241:Ssu2 UTSW 6 112374820 missense probably damaging 1.00
R6476:Ssu2 UTSW 6 112374832 missense probably damaging 1.00
R8099:Ssu2 UTSW 6 112376477 missense probably benign 0.34
Posted On2014-02-04