Incidental Mutation 'R1433:Ing1'
ID 159318
Institutional Source Beutler Lab
Gene Symbol Ing1
Ensembl Gene ENSMUSG00000045969
Gene Name inhibitor of growth family, member 1
Synonyms mING1h, 2610028J21Rik, p33Ing1
MMRRC Submission 039488-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R1433 (G1)
Quality Score 214
Status Not validated
Chromosome 8
Chromosomal Location 11605762-11613251 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11607010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 34 (V34D)
Ref Sequence ENSEMBL: ENSMUSP00000062593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054399] [ENSMUST00000209565] [ENSMUST00000209646] [ENSMUST00000210041] [ENSMUST00000210670] [ENSMUST00000210740] [ENSMUST00000211007]
AlphaFold Q9QXV3
Predicted Effect probably damaging
Transcript: ENSMUST00000054399
AA Change: V34D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062593
Gene: ENSMUSG00000045969
AA Change: V34D

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
Predicted Effect probably benign
Transcript: ENSMUST00000210740
Predicted Effect probably benign
Transcript: ENSMUST00000211007
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.9%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 C T 12: 30,945,934 (GRCm39) E140K possibly damaging Het
Acsm4 T A 7: 119,293,042 (GRCm39) D57E probably damaging Het
Adamts9 A G 6: 92,826,271 (GRCm39) probably null Het
Aen T A 7: 78,557,060 (GRCm39) Y303N probably damaging Het
Alcam T C 16: 52,116,115 (GRCm39) probably null Het
Apol7b A G 15: 77,309,746 (GRCm39) L17P probably damaging Het
Cacna1c A T 6: 118,629,754 (GRCm39) Y1058* probably null Het
Camk2d T C 3: 126,601,873 (GRCm39) V354A probably benign Het
Carf T G 1: 60,164,017 (GRCm39) M43R probably damaging Het
Casp8 T A 1: 58,863,283 (GRCm39) F81Y probably damaging Het
Cd74 G A 18: 60,937,064 (GRCm39) R20H probably benign Het
Cers5 A T 15: 99,643,812 (GRCm39) Y16* probably null Het
Chuk A T 19: 44,067,397 (GRCm39) M586K probably null Het
D130043K22Rik C A 13: 25,055,324 (GRCm39) P496Q probably damaging Het
Dab2 A G 15: 6,459,419 (GRCm39) R311G probably damaging Het
Depp1 A T 6: 116,629,223 (GRCm39) S189C possibly damaging Het
Diaph1 A T 18: 38,038,187 (GRCm39) I48N unknown Het
Dnajc13 T C 9: 104,057,320 (GRCm39) D1560G probably damaging Het
Dsg2 T C 18: 20,715,780 (GRCm39) S241P probably damaging Het
Efcab5 T C 11: 76,996,204 (GRCm39) D1119G probably benign Het
Efr3a G T 15: 65,740,906 (GRCm39) probably benign Het
Evc2 A G 5: 37,550,427 (GRCm39) K814E probably damaging Het
Hic2 A G 16: 17,076,686 (GRCm39) D505G probably benign Het
Inpp5k A G 11: 75,528,317 (GRCm39) M172V probably benign Het
Itgae T C 11: 73,006,418 (GRCm39) V362A probably damaging Het
Lama2 T A 10: 27,063,750 (GRCm39) R1346S probably damaging Het
Lrrc7 T C 3: 157,882,943 (GRCm39) N450S probably damaging Het
Lrrn3 T A 12: 41,502,583 (GRCm39) Y578F possibly damaging Het
Maml2 A T 9: 13,617,797 (GRCm39) N381I probably damaging Het
Mettl15 T G 2: 108,923,266 (GRCm39) E385D probably benign Het
Mthfr T A 4: 148,139,900 (GRCm39) I623N possibly damaging Het
Muc4 A C 16: 32,574,448 (GRCm39) N966T probably benign Het
Myoc A G 1: 162,476,565 (GRCm39) Y423C probably damaging Het
Ncoa2 A T 1: 13,218,602 (GRCm39) M1409K probably benign Het
Ncor2 T C 5: 125,187,039 (GRCm39) probably benign Het
Numb T C 12: 83,844,033 (GRCm39) E395G probably damaging Het
Oas1g A G 5: 121,020,012 (GRCm39) F198S probably damaging Het
Or2b28 T C 13: 21,531,194 (GRCm39) V32A probably benign Het
Or5k17 A G 16: 58,746,049 (GRCm39) V295A probably benign Het
Prdm13 T A 4: 21,678,909 (GRCm39) Y527F probably damaging Het
Prr14l A G 5: 32,986,177 (GRCm39) L1106P probably damaging Het
Ptbp1 T A 10: 79,699,107 (GRCm39) I555N probably damaging Het
Ptchd4 A T 17: 42,814,606 (GRCm39) T836S possibly damaging Het
Rlbp1 T C 7: 79,033,686 (GRCm39) D3G probably benign Het
Sdk2 T C 11: 113,685,871 (GRCm39) E1883G probably damaging Het
Serpinc1 A T 1: 160,820,974 (GRCm39) K140N probably damaging Het
Serpind1 A T 16: 17,160,249 (GRCm39) Y382F probably damaging Het
Slc28a3 T C 13: 58,710,920 (GRCm39) E534G probably damaging Het
Slco1a7 A G 6: 141,711,429 (GRCm39) M94T probably benign Het
Ttyh2 T A 11: 114,601,005 (GRCm39) I418N probably benign Het
Tubgcp4 C T 2: 121,005,905 (GRCm39) Q98* probably null Het
Ugt2a2 A G 5: 87,611,965 (GRCm39) L315P probably damaging Het
Vwa1 A T 4: 155,857,358 (GRCm39) S147T probably damaging Het
Xylt1 T C 7: 117,191,179 (GRCm39) V325A possibly damaging Het
Zfp335 T C 2: 164,741,376 (GRCm39) H685R probably damaging Het
Other mutations in Ing1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01461:Ing1 APN 8 11,611,453 (GRCm39) missense probably benign 0.33
F5770:Ing1 UTSW 8 11,611,934 (GRCm39) missense probably damaging 1.00
R0422:Ing1 UTSW 8 11,611,933 (GRCm39) missense probably damaging 0.98
R0546:Ing1 UTSW 8 11,607,031 (GRCm39) missense probably damaging 1.00
R1295:Ing1 UTSW 8 11,611,502 (GRCm39) missense probably damaging 0.96
R1295:Ing1 UTSW 8 11,611,501 (GRCm39) missense probably benign 0.00
R1914:Ing1 UTSW 8 11,611,577 (GRCm39) missense probably damaging 1.00
R2964:Ing1 UTSW 8 11,611,641 (GRCm39) missense probably benign 0.09
R2965:Ing1 UTSW 8 11,611,641 (GRCm39) missense probably benign 0.09
R4559:Ing1 UTSW 8 11,612,090 (GRCm39) missense probably benign 0.01
R6884:Ing1 UTSW 8 11,611,916 (GRCm39) missense probably damaging 1.00
R7775:Ing1 UTSW 8 11,611,814 (GRCm39) missense probably benign 0.00
R7778:Ing1 UTSW 8 11,611,814 (GRCm39) missense probably benign 0.00
R7824:Ing1 UTSW 8 11,611,814 (GRCm39) missense probably benign 0.00
R9537:Ing1 UTSW 8 11,611,889 (GRCm39) missense probably benign 0.07
R9731:Ing1 UTSW 8 11,611,649 (GRCm39) missense probably benign 0.00
V7583:Ing1 UTSW 8 11,611,934 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCCACGTTGGACAAGTGCGG -3'
(R):5'- CACAAGGACCTCGGCGTATCAAAG -3'

Sequencing Primer
(F):5'- GCTAGTACGCAcggccc -3'
(R):5'- CGTATCAAAGGCGCTCCAG -3'
Posted On 2014-03-14