Incidental Mutation 'IGL02649:Tnip2'
ID 302084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnip2
Ensembl Gene ENSMUSG00000059866
Gene Name TNFAIP3 interacting protein 2
Synonyms ABIN-2, 1810020H16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # IGL02649
Quality Score
Status
Chromosome 5
Chromosomal Location 34653440-34671323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34671075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 56 (L56Q)
Ref Sequence ENSEMBL: ENSMUSP00000085030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030991] [ENSMUST00000087737] [ENSMUST00000114359]
AlphaFold Q99JG7
Predicted Effect probably damaging
Transcript: ENSMUST00000030991
AA Change: L56Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030991
Gene: ENSMUSG00000059866
AA Change: L56Q

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 damaging
Transcript: ENSMUST00000087737
AA Change: L56Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085030
Gene: ENSMUSG00000059866
AA Change: L56Q

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 damaging
Transcript: ENSMUST00000114359
AA Change: L56Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109999
Gene: ENSMUSG00000059866
AA Change: L56Q

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: ENSMUST00000159102
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A T 11: 116,486,472 (GRCm39) I4F probably benign Het
Adamts17 T G 7: 66,499,626 (GRCm39) probably benign Het
Adcy1 A T 11: 7,117,156 (GRCm39) M1008L probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atrnl1 T G 19: 57,638,873 (GRCm39) probably benign Het
Brd3 T A 2: 27,344,362 (GRCm39) E456V probably damaging Het
Cabin1 A T 10: 75,573,252 (GRCm39) L712H probably damaging Het
Ccna1 T A 3: 54,961,807 (GRCm39) T38S probably damaging Het
Chadl T A 15: 81,580,059 (GRCm39) I59F probably benign Het
Chmp3 T C 6: 71,529,417 (GRCm39) M27T possibly damaging Het
Clcn1 C T 6: 42,275,763 (GRCm39) T295I probably damaging Het
Col6a6 A G 9: 105,604,369 (GRCm39) probably null Het
Dennd2a T A 6: 39,447,290 (GRCm39) H776L probably benign Het
Dimt1 G A 13: 107,085,219 (GRCm39) R55K probably benign Het
Dlg5 T A 14: 24,196,319 (GRCm39) D1626V probably damaging Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Hectd4 T C 5: 121,487,465 (GRCm39) S3487P possibly damaging Het
Hivep1 T C 13: 42,310,787 (GRCm39) V1009A possibly damaging Het
Ifna12 A T 4: 88,521,091 (GRCm39) V152E probably damaging Het
Igf2r A T 17: 12,930,974 (GRCm39) C903S possibly damaging Het
Ipo9 T C 1: 135,313,672 (GRCm39) D1002G possibly damaging Het
Isyna1 T C 8: 71,048,904 (GRCm39) S328P probably damaging Het
Itprid2 T C 2: 79,472,303 (GRCm39) probably benign Het
Lamc1 G A 1: 153,122,788 (GRCm39) T764I possibly damaging Het
Lta4h T C 10: 93,308,831 (GRCm39) V377A probably benign Het
Lyz2 C T 10: 117,118,090 (GRCm39) V20I probably benign Het
Myo3a A T 2: 22,328,418 (GRCm39) L329F probably benign Het
Nlgn2 T C 11: 69,716,628 (GRCm39) T638A probably benign Het
Oasl2 A G 5: 115,035,753 (GRCm39) T10A probably damaging Het
Or14j8 A T 17: 38,263,864 (GRCm39) F17Y probably damaging Het
Or5k1 T A 16: 58,617,713 (GRCm39) R165S probably damaging Het
Pde10a A T 17: 9,172,604 (GRCm39) N296I probably damaging Het
Plb1 A G 5: 32,519,912 (GRCm39) I1385M probably benign Het
Pld1 T C 3: 28,141,378 (GRCm39) V647A probably damaging Het
Pnp T C 14: 51,185,303 (GRCm39) probably benign Het
Ppl A T 16: 4,905,327 (GRCm39) I1656K probably damaging Het
Rimbp3 G T 16: 17,027,472 (GRCm39) E299* probably null Het
Sbsn C A 7: 30,452,683 (GRCm39) A566D probably damaging Het
Sh3rf1 T A 8: 61,816,225 (GRCm39) M494K probably damaging Het
Slc2a2 T A 3: 28,772,885 (GRCm39) V226E probably damaging Het
Smarca2 T A 19: 26,617,986 (GRCm39) I339N possibly damaging Het
Tenm2 G T 11: 36,097,912 (GRCm39) S445R possibly damaging Het
Tlcd5 C A 9: 43,022,783 (GRCm39) K190N probably benign Het
Trpv1 C T 11: 73,141,612 (GRCm39) S485F probably damaging Het
Vmn2r23 T C 6: 123,681,437 (GRCm39) M115T probably benign Het
Zbtb38 G A 9: 96,568,672 (GRCm39) T804I probably damaging Het
Zfhx3 T C 8: 109,520,167 (GRCm39) S430P possibly damaging Het
Other mutations in Tnip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Tnip2 APN 5 34,656,643 (GRCm39) missense probably benign 0.29
IGL01980:Tnip2 APN 5 34,654,212 (GRCm39) missense probably benign 0.17
IGL03122:Tnip2 APN 5 34,661,095 (GRCm39) missense possibly damaging 0.94
PIT4445001:Tnip2 UTSW 5 34,654,215 (GRCm39) missense probably benign 0.41
R1713:Tnip2 UTSW 5 34,661,175 (GRCm39) splice site probably benign
R1782:Tnip2 UTSW 5 34,657,012 (GRCm39) missense probably benign 0.21
R2183:Tnip2 UTSW 5 34,656,957 (GRCm39) intron probably benign
R2184:Tnip2 UTSW 5 34,656,957 (GRCm39) intron probably benign
R4417:Tnip2 UTSW 5 34,660,925 (GRCm39) nonsense probably null
R5216:Tnip2 UTSW 5 34,661,149 (GRCm39) missense probably damaging 0.99
R5254:Tnip2 UTSW 5 34,660,922 (GRCm39) missense probably damaging 0.99
R5287:Tnip2 UTSW 5 34,671,108 (GRCm39) missense probably damaging 1.00
R5403:Tnip2 UTSW 5 34,671,108 (GRCm39) missense probably damaging 1.00
R5839:Tnip2 UTSW 5 34,653,976 (GRCm39) utr 3 prime probably benign
R6355:Tnip2 UTSW 5 34,656,541 (GRCm39) nonsense probably null
R6379:Tnip2 UTSW 5 34,660,979 (GRCm39) missense probably damaging 1.00
R7389:Tnip2 UTSW 5 34,671,145 (GRCm39) missense probably benign 0.04
R8224:Tnip2 UTSW 5 34,671,003 (GRCm39) missense possibly damaging 0.46
R9034:Tnip2 UTSW 5 34,671,177 (GRCm39) missense probably damaging 1.00
R9722:Tnip2 UTSW 5 34,654,212 (GRCm39) missense probably benign 0.17
Posted On 2015-04-16