Incidental Mutation 'IGL01980:Tnip2'
ID182711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnip2
Ensembl Gene ENSMUSG00000059866
Gene NameTNFAIP3 interacting protein 2
SynonymsABIN-2, 1810020H16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.239) question?
Stock #IGL01980
Quality Score
Status
Chromosome5
Chromosomal Location34496087-34513991 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34496868 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 288 (V288A)
Ref Sequence ENSEMBL: ENSMUSP00000109999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030991] [ENSMUST00000087737] [ENSMUST00000114359]
Predicted Effect probably benign
Transcript: ENSMUST00000030991
AA Change: V392A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000030991
Gene: ENSMUSG00000059866
AA Change: V392A

DomainStartEndE-ValueType
coiled coil region 30 123 N/A INTRINSIC
Pfam:EABR 236 269 7.2e-21 PFAM
Pfam:CC2-LZ 264 364 5.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087737
AA Change: V371A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000085030
Gene: ENSMUSG00000059866
AA Change: V371A

DomainStartEndE-ValueType
coiled coil region 30 123 N/A INTRINSIC
Pfam:EABR 215 249 4.9e-23 PFAM
coiled coil region 256 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114359
AA Change: V288A

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109999
Gene: ENSMUSG00000059866
AA Change: V288A

DomainStartEndE-ValueType
coiled coil region 30 123 N/A INTRINSIC
coiled coil region 225 258 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143072
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 protein which acts as an inhibitor of NFkappaB activation. The encoded protein is also involved in MAP/ERK signaling pathway in specific cell types. It may be involved in apoptosis of endothelial cells. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.[provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele have impaired IL-1 response and macrophage physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd60 C T 2: 173,571,203 C164Y probably benign Het
Atp13a2 C T 4: 141,006,152 A979V probably benign Het
Col5a2 C T 1: 45,382,233 probably benign Het
Col6a6 T C 9: 105,780,985 N676S probably damaging Het
Cpa1 T C 6: 30,641,582 F192L possibly damaging Het
Entpd6 T A 2: 150,762,366 probably null Het
Fam185a A G 5: 21,459,173 K302E probably damaging Het
Il12rb2 T C 6: 67,360,535 K121E probably benign Het
Impg2 G A 16: 56,221,527 C178Y probably damaging Het
Kdm3b G T 18: 34,834,236 C1698F probably damaging Het
Llgl2 A G 11: 115,850,025 D451G probably damaging Het
Mgat4b T A 11: 50,230,713 L52Q probably damaging Het
Mmp9 C A 2: 164,950,916 S363R probably benign Het
Mtfmt A G 9: 65,437,074 Y94C probably benign Het
Myo7b G A 18: 31,961,900 L1881F possibly damaging Het
Olfr642 A T 7: 104,050,093 M87K probably benign Het
Olfr782 G T 10: 129,351,517 probably benign Het
Pex5 T C 6: 124,398,380 N524S probably damaging Het
Plppr1 A T 4: 49,319,992 Y206F possibly damaging Het
Polr3e A G 7: 120,940,296 probably benign Het
Rhbdd1 A G 1: 82,340,834 probably benign Het
Rims4 A T 2: 163,865,782 probably benign Het
Smarcal1 A T 1: 72,616,520 K653* probably null Het
Stt3b C T 9: 115,276,699 probably null Het
Syt8 C A 7: 142,440,140 L343M probably damaging Het
Tbc1d23 G A 16: 57,189,252 probably benign Het
Tfec T C 6: 16,845,466 I65V probably damaging Het
Tmem236 A T 2: 14,218,905 Q168H probably benign Het
Tmem25 G A 9: 44,798,271 R78* probably null Het
Ttc1 G A 11: 43,730,464 probably benign Het
Tubb4b-ps1 A C 5: 7,179,843 probably benign Het
Tut1 T C 19: 8,954,000 C21R probably damaging Het
Ubr4 C A 4: 139,429,602 Q2313K probably damaging Het
Unc5b T C 10: 60,780,187 E119G probably damaging Het
Vmn1r23 T A 6: 57,926,490 Q101L probably damaging Het
Vmn2r77 A G 7: 86,801,470 D188G probably benign Het
Vmn2r79 A G 7: 87,037,082 E557G possibly damaging Het
Zfp738 A G 13: 67,669,977 F632L possibly damaging Het
Other mutations in Tnip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Tnip2 APN 5 34499299 missense probably benign 0.29
IGL02649:Tnip2 APN 5 34513731 missense probably damaging 1.00
IGL03122:Tnip2 APN 5 34503751 missense possibly damaging 0.94
PIT4445001:Tnip2 UTSW 5 34496871 missense probably benign 0.41
R1713:Tnip2 UTSW 5 34503831 splice site probably benign
R1782:Tnip2 UTSW 5 34499668 missense probably benign 0.21
R2183:Tnip2 UTSW 5 34499613 intron probably benign
R2184:Tnip2 UTSW 5 34499613 intron probably benign
R4417:Tnip2 UTSW 5 34503581 nonsense probably null
R5216:Tnip2 UTSW 5 34503805 missense probably damaging 0.99
R5254:Tnip2 UTSW 5 34503578 missense probably damaging 0.99
R5287:Tnip2 UTSW 5 34513764 missense probably damaging 1.00
R5403:Tnip2 UTSW 5 34513764 missense probably damaging 1.00
R5839:Tnip2 UTSW 5 34496632 utr 3 prime probably benign
R6355:Tnip2 UTSW 5 34499197 nonsense probably null
R6379:Tnip2 UTSW 5 34503635 missense probably damaging 1.00
R7389:Tnip2 UTSW 5 34513801 missense probably benign 0.04
R8224:Tnip2 UTSW 5 34513659 missense possibly damaging 0.46
Posted On2014-05-07