Incidental Mutation 'IGL02067:Ing5'
ID185689
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: 0.411) question?
Stock #IGL02067
Quality Score
Status
Chromosome1
Chromosomal Location93803965-93822101 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 93811926 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 58 (L58Q)
Ref Sequence ENSEMBL: ENSMUSP00000140498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027505] [ENSMUST00000188402] [ENSMUST00000190476]
Predicted Effect probably damaging
Transcript: ENSMUST00000027505
AA Change: L85Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027505
Gene: ENSMUSG00000026283
AA Change: L85Q

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 noncoding transcript
Transcript: ENSMUST00000158336
Predicted Effect probably benign
Transcript: ENSMUST00000188402
Predicted Effect probably damaging
Transcript: ENSMUST00000190476
AA Change: L58Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140498
Gene: ENSMUSG00000026283
AA Change: L58Q

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik C T 5: 107,543,950 R36* probably null Het
Aplp2 T A 9: 31,150,895 K688N probably damaging Het
Arhgef28 G T 13: 98,077,317 Q13K probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Chrna6 A G 8: 27,404,396 S494P probably damaging Het
Clcc1 T A 3: 108,668,721 L195H probably damaging Het
Coq3 A G 4: 21,900,397 E208G probably benign Het
Dock4 T G 12: 40,834,385 S1684A probably damaging Het
Duoxa2 G A 2: 122,300,591 V78M possibly damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fam8a1 G T 13: 46,669,848 R88L possibly damaging Het
Ganc A G 2: 120,406,304 D23G probably benign Het
Gm14305 A T 2: 176,719,317 E53D probably damaging Het
Klrb1-ps1 A G 6: 129,129,388 D164G probably damaging Het
Lama2 G A 10: 27,176,796 T1389M probably benign Het
Lrp6 A T 6: 134,480,396 I815K probably damaging Het
Nek10 A G 14: 14,861,639 D565G probably benign Het
Opa1 A G 16: 29,616,655 E641G probably damaging Het
Rbm44 T C 1: 91,152,845 S252P probably damaging Het
Sbf1 A G 15: 89,289,044 V1810A probably damaging Het
Sh3pxd2b T C 11: 32,423,095 V754A probably benign Het
Slc27a6 A G 18: 58,612,191 T566A probably benign Het
Stxbp6 C T 12: 44,861,298 R179Q probably damaging Het
Supt6 T A 11: 78,231,157 Y223F probably benign Het
Tdrd6 T C 17: 43,628,209 I649M probably damaging Het
Tecrl A T 5: 83,284,275 C258S probably benign Het
Zfp128 T C 7: 12,885,050 I74T possibly damaging Het
Other mutations in Ing5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ing5 APN 1 93806094 start codon destroyed probably null 0.92
IGL02699:Ing5 APN 1 93816442 missense possibly damaging 0.81
IGL02744:Ing5 APN 1 93816488 missense probably damaging 0.99
Albion UTSW 1 93816444 missense probably damaging 0.97
dover UTSW 1 93812433 missense probably damaging 1.00
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
R8104:Ing5 UTSW 1 93816444 missense probably damaging 0.97
Posted On2014-05-07