Incidental Mutation 'IGL02477:Ing2'
ID 295000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ing2
Ensembl Gene ENSMUSG00000063049
Gene Name inhibitor of growth family, member 2
Synonyms 2810011M06Rik, Ing1l, ING2, P33ING2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.349) question?
Stock # IGL02477
Quality Score
Status
Chromosome 8
Chromosomal Location 48120213-48128591 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 48122303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 82 (R82S)
Ref Sequence ENSEMBL: ENSMUSP00000079226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080353]
AlphaFold Q9ESK4
PDB Structure Solution structure of PHD domain in inhibitor of growth family, member 1-like [SOLUTION NMR]
Crystal structure of ING2 PHD finger in complex with H3K4Me3 peptide [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080353
AA Change: R82S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000079226
Gene: ENSMUSG00000063049
AA Change: R82S

DomainStartEndE-ValueType
Pfam:ING 28 126 2e-26 PFAM
low complexity region 143 162 N/A INTRINSIC
low complexity region 180 201 N/A INTRINSIC
PHD 215 260 5.1e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125536
SMART Domains Protein: ENSMUSP00000124792
Gene: ENSMUSG00000063049

DomainStartEndE-ValueType
low complexity region 36 55 N/A INTRINSIC
low complexity region 73 94 N/A INTRINSIC
Pfam:PHD 108 145 1.8e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146625
SMART Domains Protein: ENSMUSP00000124454
Gene: ENSMUSG00000063049

DomainStartEndE-ValueType
low complexity region 36 55 N/A INTRINSIC
low complexity region 73 94 N/A INTRINSIC
PHD 108 153 7.99e-13 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 is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous inactivation of this gene causes impaired spermatogenesis and male infertility associated with teratozoospermia, seminiferous tubule degeneration, germ cell depletion, arrest of male meiosis and enhanced testicular apoptosis, and leads to an increased incidence of soft tissue sarcomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,127,943 (GRCm39) I61F probably benign Het
Abr T C 11: 76,352,186 (GRCm39) K280E probably damaging Het
Acaca T C 11: 84,197,994 (GRCm39) probably benign Het
Cep131 C T 11: 119,961,406 (GRCm39) V582I probably damaging Het
Colec12 A G 18: 9,859,858 (GRCm39) N613D unknown Het
Cyp4f39 A G 17: 32,708,619 (GRCm39) T389A probably benign Het
D630003M21Rik T C 2: 158,059,408 (GRCm39) N164S probably benign Het
Eef1akmt2 A T 7: 132,452,318 (GRCm39) probably null Het
Elp3 T C 14: 65,800,760 (GRCm39) T283A probably benign Het
Fads3 C A 19: 10,033,806 (GRCm39) P397Q probably damaging Het
Fam171a1 T C 2: 3,203,612 (GRCm39) V198A possibly damaging Het
Fam171a2 T C 11: 102,330,854 (GRCm39) I208M probably benign Het
Fbxw17 G A 13: 50,577,853 (GRCm39) V119M possibly damaging Het
Gtf2ird1 G A 5: 134,408,832 (GRCm39) T140M probably damaging Het
Hspa14 C T 2: 3,497,661 (GRCm39) S277N probably damaging Het
Hspg2 C T 4: 137,271,823 (GRCm39) probably benign Het
Kat6a A G 8: 23,419,316 (GRCm39) Y693C probably damaging Het
Kcna7 A G 7: 45,059,047 (GRCm39) M445V probably benign Het
Lifr T G 15: 7,216,404 (GRCm39) I793S probably damaging Het
Lrrd1 T A 5: 3,915,770 (GRCm39) M789K probably benign Het
Myom3 T A 4: 135,506,679 (GRCm39) L484Q probably benign Het
Nav2 T A 7: 49,232,623 (GRCm39) M1860K probably damaging Het
Nipbl C T 15: 8,353,131 (GRCm39) probably null Het
Nsun7 T A 5: 66,433,992 (GRCm39) I214K probably damaging Het
Or5k17 T C 16: 58,746,126 (GRCm39) I269M probably benign Het
Or8c20 C T 9: 38,260,421 (GRCm39) S8L probably benign Het
Osm T A 11: 4,189,604 (GRCm39) N129K probably damaging Het
Plce1 C T 19: 38,707,997 (GRCm39) probably benign Het
Plch1 A G 3: 63,660,714 (GRCm39) F302L probably damaging Het
Pld2 T C 11: 70,431,751 (GRCm39) V27A possibly damaging Het
Prex2 A G 1: 11,274,378 (GRCm39) D1350G probably benign Het
Psme4 T A 11: 30,792,083 (GRCm39) V1190D probably damaging Het
Sema3g G T 14: 30,949,823 (GRCm39) R668L probably damaging Het
Sprr2f T A 3: 92,273,204 (GRCm39) M1K probably null Het
Sult6b2 G A 6: 142,747,447 (GRCm39) P101S probably damaging Het
Trem3 G A 17: 48,556,864 (GRCm39) V112I probably benign Het
Ttll9 T A 2: 152,842,117 (GRCm39) F324I possibly damaging Het
Ttn T A 2: 76,557,104 (GRCm39) D29967V probably damaging Het
Ubr4 A G 4: 139,163,516 (GRCm39) K2639E probably damaging Het
Vwce T C 19: 10,641,982 (GRCm39) probably null Het
Zbtb14 T A 17: 69,694,690 (GRCm39) D129E probably benign Het
Zmym6 C T 4: 126,972,295 (GRCm39) Q16* probably null Het
Other mutations in Ing2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Ing2 APN 8 48,122,296 (GRCm39) missense possibly damaging 0.92
IGL01791:Ing2 APN 8 48,122,070 (GRCm39) missense probably benign 0.02
PIT4418001:Ing2 UTSW 8 48,122,125 (GRCm39) missense probably benign 0.03
R0315:Ing2 UTSW 8 48,122,125 (GRCm39) missense probably benign 0.06
R1793:Ing2 UTSW 8 48,122,364 (GRCm39) missense probably damaging 1.00
R5521:Ing2 UTSW 8 48,122,248 (GRCm39) missense probably damaging 1.00
R5759:Ing2 UTSW 8 48,122,040 (GRCm39) missense possibly damaging 0.71
R5821:Ing2 UTSW 8 48,121,861 (GRCm39) missense probably benign 0.32
R6222:Ing2 UTSW 8 48,121,966 (GRCm39) missense possibly damaging 0.95
R6378:Ing2 UTSW 8 48,122,293 (GRCm39) missense probably benign 0.32
R7031:Ing2 UTSW 8 48,121,858 (GRCm39) missense probably benign 0.31
R7243:Ing2 UTSW 8 48,127,574 (GRCm39) missense probably damaging 0.98
R7819:Ing2 UTSW 8 48,122,063 (GRCm39) missense probably damaging 1.00
R9080:Ing2 UTSW 8 48,121,808 (GRCm39) missense possibly damaging 0.82
R9386:Ing2 UTSW 8 48,127,561 (GRCm39) missense probably benign 0.03
R9757:Ing2 UTSW 8 48,128,075 (GRCm39) start gained probably benign
X0036:Ing2 UTSW 8 48,127,542 (GRCm39) missense probably null 0.94
Posted On 2015-04-16