Incidental Mutation 'IGL02668:Ing3'
ID302818
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: 0.964) question?
Stock #IGL02668
Quality Score
Status
Chromosome6
Chromosomal Location21949571-21976038 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21950059 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 17 (D17G)
Ref Sequence ENSEMBL: ENSMUSP00000031680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031680] [ENSMUST00000115389] [ENSMUST00000136200] [ENSMUST00000149728] [ENSMUST00000151473] [ENSMUST00000152877]
Predicted Effect probably damaging
Transcript: ENSMUST00000031680
AA Change: D17G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031680
Gene: ENSMUSG00000029670
AA Change: D17G

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 damaging
Transcript: ENSMUST00000115389
AA Change: D17G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111047
Gene: ENSMUSG00000029670
AA Change: D17G

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
AA Change: D17G

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000138656
Gene: ENSMUSG00000029670
AA Change: D17G

DomainStartEndE-ValueType
Pfam:ING 2 41 1.5e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144534
Predicted Effect possibly damaging
Transcript: ENSMUST00000149728
AA Change: D2G

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145391
Gene: ENSMUSG00000029670
AA Change: D2G

DomainStartEndE-ValueType
Pfam:ING 1 89 6.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151473
SMART Domains Protein: ENSMUSP00000120651
Gene: ENSMUSG00000029670

DomainStartEndE-ValueType
Pfam:ING 2 80 1.9e-19 PFAM
low complexity region 190 215 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000152877
AA Change: D17G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138244
Gene: ENSMUSG00000029670
AA Change: D17G

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A G 14: 35,810,117 M167T probably benign Het
Abcc4 G T 14: 118,611,475 S488R probably damaging Het
Adprm G T 11: 67,040,247 D230E possibly damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Casc1 G T 6: 145,205,257 R30S unknown Het
Ccdc66 T C 14: 27,497,341 K309E possibly damaging Het
Cyb561d2 C T 9: 107,540,172 A127T probably benign Het
Dctn1 T A 6: 83,191,048 M357K possibly damaging Het
Diras2 T C 13: 52,507,770 N167S probably benign Het
Dmgdh T G 13: 93,703,910 V283G probably damaging Het
Dmxl2 A T 9: 54,416,945 W1052R probably damaging Het
Dnah6 A T 6: 73,121,823 V2083D possibly damaging Het
Exoc4 T G 6: 33,921,532 F895L probably benign Het
Fsip1 G T 2: 118,251,725 A76E probably benign Het
Fsip2 A G 2: 82,998,318 I6820V probably benign Het
Hdac10 G A 15: 89,125,644 P395L probably benign Het
Map3k4 A T 17: 12,235,953 F1383L possibly damaging Het
Mpp6 C T 6: 50,194,529 T386I probably damaging Het
Myct1 C A 10: 5,604,513 P127T probably damaging Het
Olfr593 A T 7: 103,212,735 I281F possibly damaging Het
Osbpl7 G T 11: 97,067,205 A625S possibly damaging Het
Padi2 C T 4: 140,949,880 R660C probably benign Het
Paip1 A T 13: 119,438,071 I185F probably damaging Het
Phykpl G A 11: 51,593,687 probably null Het
Plekhg6 G A 6: 125,372,803 probably benign Het
Plxna1 A T 6: 89,357,269 L126* probably null Het
Rchy1 A T 5: 91,962,718 M1K probably null Het
Rfx3 T C 19: 27,815,614 probably benign Het
Sdr9c7 T C 10: 127,902,398 F182L probably damaging Het
Sgpl1 A C 10: 61,105,450 V294G probably damaging Het
Sh2b1 A G 7: 126,472,474 S180P possibly damaging Het
Sorbs1 T C 19: 40,314,681 D488G probably damaging Het
Stab2 A G 10: 86,846,163 probably benign Het
Sycp1 A C 3: 102,820,531 probably benign Het
Tmem245 T C 4: 56,925,081 K347E possibly damaging Het
Tnk1 A G 11: 69,856,923 M51T probably damaging Het
Trpm2 C T 10: 77,935,942 R621H probably damaging Het
Ubd G T 17: 37,195,529 R102L probably benign Het
Uhrf1bp1 A C 17: 27,886,575 I692L possibly damaging Het
Vmn2r103 G T 17: 19,794,127 A394S probably benign Het
Zfp324 T A 7: 12,970,846 C321S probably damaging Het
Zfp488 G T 14: 33,970,820 Q129K probably benign Het
Zmpste24 T A 4: 121,061,100 N442Y probably 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
IGL02897:Ing3 APN 6 21969326 missense probably benign 0.14
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 On2015-04-16