Incidental Mutation 'IGL01461:Ing1'
ID87989
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ing1
Ensembl Gene ENSMUSG00000045969
Gene Nameinhibitor of growth family, member 1
Synonyms2610028J21Rik, p33Ing1, mING1h
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock #IGL01461
Quality Score
Status
Chromosome8
Chromosomal Location11555571-11563251 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 11561453 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 22 (F22V)
Ref Sequence ENSEMBL: ENSMUSP00000148023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054399] [ENSMUST00000209565] [ENSMUST00000209646] [ENSMUST00000210041] [ENSMUST00000210670] [ENSMUST00000210740] [ENSMUST00000211007]
Predicted Effect probably benign
Transcript: ENSMUST00000054399
AA Change: F58V

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000062593
Gene: ENSMUSG00000045969
AA Change: F58V

DomainStartEndE-ValueType
Pfam:ING 15 113 1.4e-33 PFAM
low complexity region 146 165 N/A INTRINSIC
low complexity region 177 199 N/A INTRINSIC
PHD 212 257 2.23e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209565
Predicted Effect probably benign
Transcript: ENSMUST00000209646
Predicted Effect probably benign
Transcript: ENSMUST00000210041
Predicted Effect probably benign
Transcript: ENSMUST00000210670
AA Change: F22V

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000210740
Predicted Effect probably benign
Transcript: ENSMUST00000211007
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 can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display a slight decrease in body weight, moderately impaired maternal nurturing, increased sensitivity to gamma-irradiation, and increased incidence of B-cell derived lymphomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,281,095 F767S probably benign Het
2810474O19Rik T C 6: 149,331,515 probably benign Het
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Apob A T 12: 8,001,884 M1137L probably benign Het
Brd9 C T 13: 73,951,598 Q445* probably null Het
Cdh23 T C 10: 60,409,147 T990A possibly damaging Het
Cenpf A G 1: 189,657,096 L1513S probably damaging Het
Col27a1 A G 4: 63,224,243 K56R probably damaging Het
Cryaa A G 17: 31,681,026 Y118C probably damaging Het
Dtl T C 1: 191,546,617 T378A possibly damaging Het
E330020D12Rik A G 1: 153,408,359 noncoding transcript Het
F7 A G 8: 13,032,245 D145G possibly damaging Het
Flvcr2 A G 12: 85,803,131 probably benign Het
Hltf A T 3: 20,099,939 K680* probably null Het
Ipo5 A G 14: 120,928,533 D330G probably damaging Het
Itgax G T 7: 128,135,018 D321Y probably damaging Het
Kdelc1 T C 1: 44,110,934 Q365R probably damaging Het
Kel A C 6: 41,701,911 probably null Het
March10 T C 11: 105,389,605 K618R probably damaging Het
Mast4 T A 13: 102,754,068 M925L probably damaging Het
Miga1 C T 3: 152,335,297 E78K probably damaging Het
Olfr1204 G T 2: 88,852,325 C125F probably damaging Het
Olfr58 T A 9: 19,783,949 probably null Het
Pkdrej T C 15: 85,820,374 I454V possibly damaging Het
Prpf6 C A 2: 181,631,511 T283N probably benign Het
R3hdm1 A G 1: 128,178,906 H197R probably damaging Het
Smpd4 A C 16: 17,621,506 Q7P probably damaging Het
Vmn2r84 A T 10: 130,391,225 I248K possibly damaging Het
Other mutations in Ing1
AlleleSourceChrCoordTypePredicted EffectPPH Score
F5770:Ing1 UTSW 8 11561934 missense probably damaging 1.00
R0422:Ing1 UTSW 8 11561933 missense probably damaging 0.98
R0546:Ing1 UTSW 8 11557031 missense probably damaging 1.00
R1295:Ing1 UTSW 8 11561501 missense probably benign 0.00
R1295:Ing1 UTSW 8 11561502 missense probably damaging 0.96
R1433:Ing1 UTSW 8 11557010 missense probably damaging 0.98
R1914:Ing1 UTSW 8 11561577 missense probably damaging 1.00
R2964:Ing1 UTSW 8 11561641 missense probably benign 0.09
R2965:Ing1 UTSW 8 11561641 missense probably benign 0.09
R4559:Ing1 UTSW 8 11562090 missense probably benign 0.01
R6884:Ing1 UTSW 8 11561916 missense probably damaging 1.00
R7775:Ing1 UTSW 8 11561814 missense probably benign 0.00
R7778:Ing1 UTSW 8 11561814 missense probably benign 0.00
R7824:Ing1 UTSW 8 11561814 missense probably benign 0.00
V7583:Ing1 UTSW 8 11561934 missense probably damaging 1.00
Posted On2013-11-18