Incidental Mutation 'IGL00510:Spryd7'
ID5870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spryd7
Ensembl Gene ENSMUSG00000021930
Gene NameSPRY domain containing 7
Synonyms6330409N04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.157) question?
Stock #IGL00510
Quality Score
Status
Chromosome14
Chromosomal Location61531993-61556886 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 61545741 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 111 (N111Y)
Ref Sequence ENSEMBL: ENSMUSP00000098065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022497] [ENSMUST00000100496]
Predicted Effect probably damaging
Transcript: ENSMUST00000022497
AA Change: N111Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022497
Gene: ENSMUSG00000021930
AA Change: N111Y

DomainStartEndE-ValueType
SPRY 62 176 4.39e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100496
AA Change: N111Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098065
Gene: ENSMUSG00000021930
AA Change: N111Y

DomainStartEndE-ValueType
Pfam:SPRY 62 144 1.1e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226286
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 138,289,907 N357S probably damaging Het
Akap4 A G X: 7,076,624 T389A probably damaging Het
Aldh3a1 A G 11: 61,213,596 E103G probably damaging Het
Aldh3b3 C A 19: 3,965,863 Q278K probably benign Het
Ap3m2 A T 8: 22,797,227 probably null Het
Asxl3 G T 18: 22,523,565 C1544F probably damaging Het
Chd7 A G 4: 8,801,404 D716G probably damaging Het
Dennd1b G T 1: 139,102,071 R322L probably damaging Het
Dnah7a C T 1: 53,501,542 V2558M probably damaging Het
Fbp2 T C 13: 62,841,884 I203V possibly damaging Het
Gnai1 T A 5: 18,291,619 D102V probably benign Het
Gtf2h1 C T 7: 46,819,210 T524I possibly damaging Het
Hinfp G A 9: 44,297,766 R352C probably damaging Het
Lpin1 G A 12: 16,553,992 H613Y probably benign Het
Med29 C T 7: 28,390,841 A110T possibly damaging Het
Myo9a T C 9: 59,832,181 probably benign Het
Nlgn1 G T 3: 25,436,490 P329T probably benign Het
Osmr G T 15: 6,823,631 Y593* probably null Het
Otx2 T C 14: 48,658,735 T289A probably benign Het
Pkn2 T C 3: 142,799,019 T799A probably damaging Het
Plcb1 T A 2: 135,251,756 V163D possibly damaging Het
Rgs3 G A 4: 62,701,180 A501T possibly damaging Het
Rnf103 T C 6: 71,509,749 S455P probably damaging Het
Slc9c1 A G 16: 45,539,639 T19A probably benign Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Zfp687 A G 3: 95,008,447 S1005P probably damaging Het
Other mutations in Spryd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1770:Spryd7 UTSW 14 61540205 missense probably damaging 0.99
R7606:Spryd7 UTSW 14 61540158 missense possibly damaging 0.89
R7821:Spryd7 UTSW 14 61545680 critical splice donor site probably null
Posted On2012-04-20