Incidental Mutation 'IGL02699:Ing5'
ID304056
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ing5
Ensembl Gene ENSMUSG00000026283
Gene Nameinhibitor of growth family, member 5
Synonyms1810018M11Rik, 1700027H23Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.306) question?
Stock #IGL02699
Quality Score
Status
Chromosome1
Chromosomal Location93803965-93822101 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93816442 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 157 (N157D)
Ref Sequence ENSEMBL: ENSMUSP00000140498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027505] [ENSMUST00000188402] [ENSMUST00000190476]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027505
AA Change: N184D

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027505
Gene: ENSMUSG00000026283
AA Change: N184D

DomainStartEndE-ValueType
Pfam:ING 6 107 1.6e-34 PFAM
low complexity region 129 150 N/A INTRINSIC
PHD 188 233 7.34e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188402
Predicted Effect possibly damaging
Transcript: ENSMUST00000190476
AA Change: N157D

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140498
Gene: ENSMUSG00000026283
AA Change: N157D

DomainStartEndE-ValueType
Pfam:ING 1 80 2.4e-18 PFAM
low complexity region 102 123 N/A INTRINSIC
PHD 161 206 4.7e-14 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tumor suppressor protein that inhibits cell growth and induces apoptosis. This protein contains a PHD-type zinc finger. It interacts with tumor suppressor p53 and p300, a component of the histone acetyl transferase complex, suggesting a role in transcriptional regulation. Alternative splicing and the use of multiple promoters and 3' terminal exons results in multiple transcript variants. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,322,019 D198G probably benign Het
Casq1 T C 1: 172,219,696 probably benign Het
Cd109 T A 9: 78,671,989 probably benign Het
Col15a1 T G 4: 47,284,471 probably benign Het
Ctdp1 T C 18: 80,450,185 D365G probably benign Het
Daam1 T C 12: 71,988,943 F971L probably damaging Het
Dalrd3 T A 9: 108,570,889 probably benign Het
Dnaaf5 T C 5: 139,153,350 probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo8 A G 8: 56,590,188 T236A possibly damaging Het
Ighv1-12 C A 12: 114,616,116 E29* probably null Het
Il17re A G 6: 113,468,919 D397G probably damaging Het
Ipo11 T C 13: 106,889,397 E395G possibly damaging Het
Letm1 T C 5: 33,745,148 E599G possibly damaging Het
Mansc1 T C 6: 134,610,354 T287A probably benign Het
Med1 T C 11: 98,180,025 N131D possibly damaging Het
Olfr1085 A T 2: 86,658,347 I37N probably benign Het
Olfr1337 G T 4: 118,782,152 C144* probably null Het
Olfr1341 T C 4: 118,710,198 S264P probably benign Het
Olfr769 T G 10: 129,111,771 Y218S probably benign Het
Osm T C 11: 4,239,723 V169A possibly damaging Het
Phkg2 C T 7: 127,582,550 A278V probably benign Het
Plod2 T A 9: 92,607,142 M709K probably damaging Het
Pzp A T 6: 128,487,401 probably null Het
Ric1 T C 19: 29,522,557 L12P possibly damaging Het
Skor1 C A 9: 63,140,046 probably benign Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Syncrip A G 9: 88,456,554 probably benign Het
Tex2 T C 11: 106,568,433 E57G possibly damaging Het
Tmc1 C T 19: 20,832,350 probably null Het
Tmem59 T C 4: 107,192,538 M140T probably benign Het
Ttn T C 2: 76,944,089 T2158A probably damaging Het
Other mutations in Ing5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ing5 APN 1 93806094 start codon destroyed probably null 0.92
IGL02067:Ing5 APN 1 93811926 missense probably damaging 1.00
IGL02744:Ing5 APN 1 93816488 missense probably damaging 0.99
PIT4458001:Ing5 UTSW 1 93811946 missense possibly damaging 0.64
R0372:Ing5 UTSW 1 93812420 missense probably damaging 0.98
R2903:Ing5 UTSW 1 93803988 unclassified probably benign
R3742:Ing5 UTSW 1 93812676 missense probably damaging 1.00
R5713:Ing5 UTSW 1 93812730 missense probably benign 0.00
R7514:Ing5 UTSW 1 93816442 missense possibly damaging 0.81
R7643:Ing5 UTSW 1 93812433 missense probably damaging 1.00
Posted On2015-04-16