Incidental Mutation 'IGL02897:Ing3'
ID363434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ing3
Ensembl Gene ENSMUSG00000029670
Gene Nameinhibitor of growth family, member 3
Synonyms1300013A07Rik, P47ING3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #IGL02897
Quality Score
Status
Chromosome6
Chromosomal Location21949571-21976038 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 21969326 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 202 (V202E)
Ref Sequence ENSEMBL: ENSMUSP00000031680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031680] [ENSMUST00000115389] [ENSMUST00000136200] [ENSMUST00000149728] [ENSMUST00000151473] [ENSMUST00000152877]
Predicted Effect probably benign
Transcript: ENSMUST00000031680
AA Change: V202E

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000031680
Gene: ENSMUSG00000029670
AA Change: V202E

DomainStartEndE-ValueType
Pfam:ING 3 104 2.7e-31 PFAM
low complexity region 214 239 N/A INTRINSIC
low complexity region 308 345 N/A INTRINSIC
PHD 365 410 4e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115389
AA Change: V191E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000111047
Gene: ENSMUSG00000029670
AA Change: V191E

DomainStartEndE-ValueType
Pfam:ING 2 104 1.5e-33 PFAM
low complexity region 203 228 N/A INTRINSIC
low complexity region 297 334 N/A INTRINSIC
PHD 354 399 6.39e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136200
SMART Domains Protein: ENSMUSP00000138656
Gene: ENSMUSG00000029670

DomainStartEndE-ValueType
Pfam:ING 2 41 1.5e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144534
Predicted Effect probably benign
Transcript: ENSMUST00000149728
SMART Domains Protein: ENSMUSP00000145391
Gene: ENSMUSG00000029670

DomainStartEndE-ValueType
Pfam:ING 1 89 6.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151473
AA Change: V178E

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120651
Gene: ENSMUSG00000029670
AA Change: V178E

DomainStartEndE-ValueType
Pfam:ING 2 80 1.9e-19 PFAM
low complexity region 190 215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152877
SMART Domains Protein: ENSMUSP00000138244
Gene: ENSMUSG00000029670

DomainStartEndE-ValueType
Pfam:ING 2 89 1.5e-27 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,517,308 E108D probably benign Het
Abca7 T C 10: 80,001,592 F437L probably damaging Het
Abi2 T C 1: 60,448,194 V134A probably damaging Het
Ablim2 T C 5: 35,833,126 I75T probably damaging Het
Aldh1a3 A G 7: 66,427,327 V29A probably benign Het
Bptf T C 11: 107,047,121 K2715E probably damaging Het
Cd163 A T 6: 124,325,527 S1017C probably damaging Het
Cdc14b T C 13: 64,247,253 I76V probably benign Het
Cers6 T A 2: 68,934,533 C63* probably null Het
Chd9 T C 8: 90,933,868 probably benign Het
Col19a1 T C 1: 24,534,098 N198D unknown Het
Cse1l T C 2: 166,919,708 C61R possibly damaging Het
Cubn T C 2: 13,318,312 T2815A possibly damaging Het
Cyp19a1 G T 9: 54,166,911 T453K possibly damaging Het
Dlg1 G T 16: 31,771,856 probably null Het
Dpp7 T C 2: 25,353,672 Y339C probably damaging Het
Dtl T C 1: 191,541,544 probably benign Het
Gm5591 T C 7: 38,520,042 E469G probably damaging Het
Inpp5j A G 11: 3,500,619 L578P probably damaging Het
Irak4 A G 15: 94,553,991 N155S probably benign Het
Kif2b A T 11: 91,576,219 S413T probably damaging Het
L3mbtl1 A T 2: 162,965,772 Y490F probably damaging Het
Med17 T G 9: 15,267,534 D447A probably damaging Het
Med26 T C 8: 72,496,521 T245A probably benign Het
Nlrc3 A T 16: 3,964,074 S490R possibly damaging Het
Nme5 A G 18: 34,569,903 probably benign Het
Olfr611 T C 7: 103,518,130 R85G probably benign Het
Rnf10 G T 5: 115,248,641 Q530K probably benign Het
Robo3 A T 9: 37,427,502 Y281* probably null Het
Sclt1 T C 3: 41,675,387 I330V probably benign Het
Smim14 A T 5: 65,450,396 probably benign Het
Trank1 T G 9: 111,367,517 H1536Q probably damaging Het
Tspan18 A G 2: 93,220,173 L35P possibly damaging Het
Ubr4 G A 4: 139,472,508 V4568M probably damaging Het
Vmn1r63 A G 7: 5,802,745 V296A possibly damaging Het
Other mutations in Ing3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01721:Ing3 APN 6 21968880 splice site probably benign
IGL02330:Ing3 APN 6 21952121 missense probably benign 0.00
IGL02668:Ing3 APN 6 21950059 missense probably damaging 0.98
IGL03065:Ing3 APN 6 21971222 missense probably benign
R0076:Ing3 UTSW 6 21952171 missense probably benign
R0513:Ing3 UTSW 6 21970035 missense probably damaging 0.98
R0711:Ing3 UTSW 6 21971237 nonsense probably null
R2369:Ing3 UTSW 6 21950091 missense probably damaging 0.98
R4660:Ing3 UTSW 6 21973711 utr 3 prime probably benign
R4672:Ing3 UTSW 6 21965730 splice site probably null
R5557:Ing3 UTSW 6 21968909 missense possibly damaging 0.95
R5682:Ing3 UTSW 6 21968950 missense probably damaging 0.98
R5773:Ing3 UTSW 6 21971835 missense probably damaging 1.00
R5774:Ing3 UTSW 6 21967689 missense probably benign
R5914:Ing3 UTSW 6 21968905 missense probably benign 0.18
R5976:Ing3 UTSW 6 21971174 missense probably benign 0.09
R6265:Ing3 UTSW 6 21953814 missense probably damaging 0.99
R7239:Ing3 UTSW 6 21952194 missense probably damaging 0.99
R7526:Ing3 UTSW 6 21953799 missense probably damaging 1.00
R8112:Ing3 UTSW 6 21952182 missense probably damaging 1.00
Posted On2015-12-18