Incidental Mutation 'IGL01588:Ing4'
ID91507
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ing4
Ensembl Gene ENSMUSG00000030330
Gene Nameinhibitor of growth family, member 4
Synonymsp29ING4, D6Wsu147e, D6Xrf92
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.503) question?
Stock #IGL01588
Quality Score
Status
Chromosome6
Chromosomal Location125039760-125049265 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 125043986 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 24 (N24D)
Ref Sequence ENSEMBL: ENSMUSP00000121519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032480] [ENSMUST00000112417] [ENSMUST00000140131]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032480
AA Change: N24D

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032480
Gene: ENSMUSG00000030330
AA Change: N24D

DomainStartEndE-ValueType
Pfam:ING 5 107 5.5e-35 PFAM
low complexity region 118 131 N/A INTRINSIC
PHD 197 242 3.67e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112417
AA Change: N24D

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108036
Gene: ENSMUSG00000030330
AA Change: N24D

DomainStartEndE-ValueType
Pfam:ING 5 107 6.5e-35 PFAM
low complexity region 118 126 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133695
Predicted Effect possibly damaging
Transcript: ENSMUST00000140131
AA Change: N24D

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121519
Gene: ENSMUSG00000030330
AA Change: N24D

DomainStartEndE-ValueType
Pfam:ING 6 107 2.1e-35 PFAM
low complexity region 114 139 N/A INTRINSIC
PHD 198 243 3.67e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140883
SMART Domains Protein: ENSMUSP00000118561
Gene: ENSMUSG00000030330

DomainStartEndE-ValueType
Pfam:ING 5 107 1e-34 PFAM
low complexity region 118 131 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151125
SMART Domains Protein: ENSMUSP00000119709
Gene: ENSMUSG00000030330

DomainStartEndE-ValueType
Pfam:ING 5 107 1.4e-34 PFAM
low complexity region 118 131 N/A INTRINSIC
PDB:1WEU|A 167 216 3e-32 PDB
SCOP:d1fp0a1 190 216 2e-3 SMART
Blast:PHD 197 215 1e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152574
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205110
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 contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in the TP53-dependent regulatory pathway. Multiple alternatively spliced transcript variants have been observed that encode distinct proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are hypersensitive to LPS challenge and exhibit elevated cytokine responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T A 1: 139,478,162 S1596T probably benign Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Csn2 T C 5: 87,694,649 H165R probably benign Het
Dido1 A G 2: 180,688,875 V260A probably benign Het
Ece1 C T 4: 137,957,206 probably benign Het
Garem1 T G 18: 21,129,797 R653S probably damaging Het
Gpatch2 A T 1: 187,230,794 S261C probably damaging Het
Klhdc7a A T 4: 139,966,946 V230D probably damaging Het
Ly96 G A 1: 16,709,454 V116I probably benign Het
Myom1 C T 17: 71,117,437 T1427M possibly damaging Het
Nedd1 C A 10: 92,686,262 V638L probably benign Het
Olfr1161 T C 2: 88,025,073 V117A probably benign Het
Olfr653 C T 7: 104,579,943 S99F probably damaging Het
Olfr948 G A 9: 39,318,832 Q261* probably null Het
Pbx2 T C 17: 34,595,618 probably benign Het
Phlpp1 A T 1: 106,380,389 H1132L probably damaging Het
Plpp5 T A 8: 25,724,168 H237Q probably damaging Het
Stard13 C T 5: 151,045,237 R856H probably damaging Het
Sult1e1 T C 5: 87,576,243 K285R probably benign Het
Ubxn8 C T 8: 33,621,559 V269M probably damaging Het
Usp29 A T 7: 6,962,611 K484N probably benign Het
Whrn C T 4: 63,472,778 V80M probably damaging Het
Znhit6 A G 3: 145,596,207 probably benign Het
Other mutations in Ing4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0361:Ing4 UTSW 6 125047894 missense probably damaging 1.00
R0830:Ing4 UTSW 6 125043960 missense probably damaging 1.00
R2969:Ing4 UTSW 6 125047325 missense probably benign 0.01
R4849:Ing4 UTSW 6 125043983 missense probably damaging 0.98
R4955:Ing4 UTSW 6 125048201 missense probably damaging 0.97
R4971:Ing4 UTSW 6 125043998 missense probably benign 0.01
R5141:Ing4 UTSW 6 125039874 missense probably benign
R5561:Ing4 UTSW 6 125047060 missense possibly damaging 0.86
Posted On2013-12-09