Incidental Mutation 'IGL00743:Id2'
ID11396
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Id2
Ensembl Gene ENSMUSG00000020644
Gene Nameinhibitor of DNA binding 2
Synonymsinhibitor of differentiation 2, bHLHb26, C78922, Idb2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00743
Quality Score
Status
Chromosome12
Chromosomal Location25093799-25097140 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 25095356 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 123 (E123*)
Ref Sequence ENSEMBL: ENSMUSP00000152052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020974] [ENSMUST00000221761] [ENSMUST00000222667]
Predicted Effect probably null
Transcript: ENSMUST00000020974
AA Change: E123*
SMART Domains Protein: ENSMUSP00000020974
Gene: ENSMUSG00000020644
AA Change: E123*

DomainStartEndE-ValueType
HLH 28 81 6.46e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000221761
AA Change: E123*
Predicted Effect probably benign
Transcript: ENSMUST00000222667
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 belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display postnatal lethality with immune system defects. Homozygotes may also have defects in the digestive tract, kidneys, adipose tissue and in mammary gland development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 T C 2: 150,619,686 E659G probably benign Het
Adgrg6 A C 10: 14,535,959 probably benign Het
Als2cl A G 9: 110,889,159 K323E possibly damaging Het
Atm A C 9: 53,513,116 S628R probably benign Het
Baz2a T C 10: 128,114,526 V443A probably benign Het
Bclaf3 T A X: 159,558,361 F545Y probably benign Het
Calcr T C 6: 3,717,196 Y88C probably damaging Het
Ccdc178 C T 18: 22,145,444 probably benign Het
Cdh20 A G 1: 104,947,428 T312A probably benign Het
Chrnd G A 1: 87,192,927 W91* probably null Het
Cntln T C 4: 84,979,415 F413S probably benign Het
Ctsq A T 13: 61,036,184 I308N probably damaging Het
Cyp2d34 A T 15: 82,617,535 V258D probably damaging Het
Dnajc13 G A 9: 104,162,780 P2044S probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hps6 A T 19: 46,003,660 D12V probably damaging Het
Hpse T C 5: 100,698,999 D188G probably benign Het
Ints10 C T 8: 68,819,333 P562L probably damaging Het
Kctd10 G A 5: 114,367,349 R195C probably damaging Het
Kel A C 6: 41,688,575 L537R probably damaging Het
Kif19a T C 11: 114,784,773 V357A probably damaging Het
Lrrtm3 A T 10: 64,089,209 S60T probably damaging Het
Myof C A 19: 37,960,934 R608L probably benign Het
Naa35 A T 13: 59,630,671 I669F probably benign Het
Olfr968 A G 9: 39,772,111 S230P possibly damaging Het
Olfr971 A T 9: 39,839,706 I91F probably benign Het
Pclo G T 5: 14,678,021 probably benign Het
Pik3c3 C T 18: 30,274,364 S55F probably damaging Het
Prdm6 T G 18: 53,540,228 D153E possibly damaging Het
Rnf183 T C 4: 62,428,373 T63A probably benign Het
Samd4b A C 7: 28,401,877 I108S probably damaging Het
Slc9a7 T C X: 20,106,021 D708G possibly damaging Het
Stim2 A G 5: 54,053,493 D90G probably benign Het
Tmem52b A G 6: 129,516,715 D97G probably damaging Het
Tnfsf15 T C 4: 63,734,281 R98G probably benign Het
Uxs1 C T 1: 43,757,013 V310I probably benign Het
Vcan A C 13: 89,725,306 M143R probably damaging Het
Vmn2r93 T C 17: 18,326,242 F792S probably damaging Het
Zfp455 T C 13: 67,207,898 I345T probably benign Het
Zfp938 A T 10: 82,226,483 M101K probably benign Het
Zkscan2 A G 7: 123,479,972 S921P probably damaging Het
Other mutations in Id2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Stromboli UTSW 12 25095821 missense probably damaging 1.00
R0015:Id2 UTSW 12 25095803 missense probably damaging 1.00
R0750:Id2 UTSW 12 25095671 missense probably damaging 1.00
R3912:Id2 UTSW 12 25095872 nonsense probably null
R5988:Id2 UTSW 12 25095724 missense probably benign 0.02
R7246:Id2 UTSW 12 25095821 missense probably damaging 1.00
Posted On2012-12-06