Incidental Mutation 'R7198:Tnip1'
ID 560095
Institutional Source Beutler Lab
Gene Symbol Tnip1
Ensembl Gene ENSMUSG00000020400
Gene Name TNFAIP3 interacting protein 1
Synonyms ABIN1, VAN, Nef, A20-binding inhibitor of NF-kappa B activation
MMRRC Submission 045337-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7198 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 54801611-54853743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 54808630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 519 (A519V)
Ref Sequence ENSEMBL: ENSMUSP00000018482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018482] [ENSMUST00000102730] [ENSMUST00000102731] [ENSMUST00000108885] [ENSMUST00000108886] [ENSMUST00000108889]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018482
AA Change: A519V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000018482
Gene: ENSMUSG00000020400
AA Change: A519V

DomainStartEndE-ValueType
coiled coil region 42 71 N/A INTRINSIC
low complexity region 102 115 N/A INTRINSIC
coiled coil region 215 266 N/A INTRINSIC
low complexity region 284 296 N/A INTRINSIC
SCOP:d1bg1a1 342 511 2e-4 SMART
low complexity region 519 543 N/A INTRINSIC
low complexity region 560 577 N/A INTRINSIC
low complexity region 586 599 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102730
AA Change: A519V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000099791
Gene: ENSMUSG00000020400
AA Change: A519V

DomainStartEndE-ValueType
coiled coil region 42 71 N/A INTRINSIC
low complexity region 102 115 N/A INTRINSIC
coiled coil region 215 266 N/A INTRINSIC
low complexity region 284 296 N/A INTRINSIC
SCOP:d1bg1a1 342 511 3e-4 SMART
low complexity region 519 543 N/A INTRINSIC
low complexity region 560 577 N/A INTRINSIC
low complexity region 586 599 N/A INTRINSIC
low complexity region 627 640 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102731
AA Change: A519V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099792
Gene: ENSMUSG00000020400
AA Change: A519V

DomainStartEndE-ValueType
coiled coil region 42 71 N/A INTRINSIC
low complexity region 102 115 N/A INTRINSIC
coiled coil region 215 266 N/A INTRINSIC
low complexity region 284 296 N/A INTRINSIC
SCOP:d1bg1a1 342 511 2e-4 SMART
low complexity region 519 543 N/A INTRINSIC
low complexity region 560 577 N/A INTRINSIC
low complexity region 586 599 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108885
AA Change: A466V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104513
Gene: ENSMUSG00000020400
AA Change: A466V

DomainStartEndE-ValueType
low complexity region 49 62 N/A INTRINSIC
coiled coil region 162 213 N/A INTRINSIC
low complexity region 231 243 N/A INTRINSIC
SCOP:d1bg1a1 289 458 5e-4 SMART
low complexity region 466 490 N/A INTRINSIC
low complexity region 507 524 N/A INTRINSIC
low complexity region 533 546 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108886
AA Change: A466V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104514
Gene: ENSMUSG00000020400
AA Change: A466V

DomainStartEndE-ValueType
low complexity region 49 62 N/A INTRINSIC
coiled coil region 162 213 N/A INTRINSIC
low complexity region 231 243 N/A INTRINSIC
SCOP:d1bg1a1 289 458 5e-4 SMART
low complexity region 466 490 N/A INTRINSIC
low complexity region 507 524 N/A INTRINSIC
low complexity region 533 546 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108889
AA Change: A519V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104517
Gene: ENSMUSG00000020400
AA Change: A519V

DomainStartEndE-ValueType
coiled coil region 42 71 N/A INTRINSIC
low complexity region 102 115 N/A INTRINSIC
coiled coil region 215 266 N/A INTRINSIC
low complexity region 284 296 N/A INTRINSIC
SCOP:d1bg1a1 342 511 2e-4 SMART
low complexity region 519 543 N/A INTRINSIC
low complexity region 560 577 N/A INTRINSIC
low complexity region 586 599 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit perinatal lethality associated with anemia and focal apoptosis in the fetal liver. Mice homozygous for a gene trap allele exhibit partial prenatal lethality and SLE-like inflammatory disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C T 11: 109,969,481 (GRCm39) S365N probably damaging Het
Baiap3 G A 17: 25,462,814 (GRCm39) R1075C probably benign Het
Baz2b A G 2: 59,792,550 (GRCm39) L526P probably benign Het
Bbs1 A T 19: 4,945,043 (GRCm39) L376Q probably damaging Het
Bcl9 T A 3: 97,112,511 (GRCm39) M1315L possibly damaging Het
Bcl9 T C 3: 97,116,183 (GRCm39) Q837R probably damaging Het
Cct2 A G 10: 116,889,029 (GRCm39) V490A probably benign Het
Cdh23 T C 10: 60,148,378 (GRCm39) Y2663C possibly damaging Het
Chit1 A G 1: 134,078,229 (GRCm39) K346E possibly damaging Het
Chl1 A G 6: 103,683,517 (GRCm39) Y781C probably damaging Het
Col12a1 A C 9: 79,557,314 (GRCm39) L1938R possibly damaging Het
Cpxm2 T A 7: 131,681,813 (GRCm39) N239Y probably damaging Het
Cyp3a41b A G 5: 145,519,330 (GRCm39) Y54H probably benign Het
Dclk1 A C 3: 55,385,296 (GRCm39) D369A possibly damaging Het
Dnai4 A G 4: 102,919,610 (GRCm39) V498A probably damaging Het
Dpy19l3 T C 7: 35,449,190 (GRCm39) N71S possibly damaging Het
Efcab3 T A 11: 104,642,711 (GRCm39) N1111K probably benign Het
Fer T A 17: 64,228,683 (GRCm39) V186E possibly damaging Het
Gm11042 T A 12: 74,361,888 (GRCm39) H39L unknown Het
Gm14325 A G 2: 177,473,798 (GRCm39) I428T probably benign Het
Gm47995 A G 1: 151,074,404 (GRCm39) E69G possibly damaging Het
Gm6176 T A 7: 21,750,596 (GRCm39) I112F probably damaging Het
Hivep2 T A 10: 14,005,710 (GRCm39) D769E probably benign Het
Hsdl1 C T 8: 120,294,607 (GRCm39) V40I probably benign Het
Ipmk A G 10: 71,183,882 (GRCm39) H34R probably damaging Het
Kcnd3 T C 3: 105,366,856 (GRCm39) L242P probably damaging Het
Kdm4d T C 9: 14,375,316 (GRCm39) M181V probably damaging Het
Lats2 A T 14: 57,934,582 (GRCm39) I716N probably damaging Het
Liph T C 16: 21,784,772 (GRCm39) Y305C probably damaging Het
Ltbp1 T C 17: 75,533,962 (GRCm39) V150A possibly damaging Het
Ly6d A T 15: 74,634,384 (GRCm39) S69T probably benign Het
Meltf A G 16: 31,702,617 (GRCm39) R115G possibly damaging Het
Msgn1 G T 12: 11,258,902 (GRCm39) D16E probably benign Het
Mthfd2l T A 5: 91,094,705 (GRCm39) I58K probably damaging Het
Mup18 G C 4: 61,591,573 (GRCm39) probably null Het
Nek10 T A 14: 14,850,947 (GRCm38) W331R probably damaging Het
Nphp3 A G 9: 103,881,974 (GRCm39) Y148C probably damaging Het
Or4a47 T C 2: 89,666,076 (GRCm39) Y71C probably damaging Het
Or5h19 C T 16: 58,856,456 (GRCm39) V215I probably benign Het
Or6c33 T A 10: 129,853,760 (GRCm39) C177S probably damaging Het
Oscp1 A G 4: 125,980,459 (GRCm39) T325A possibly damaging Het
Pcdha4 T A 18: 37,086,613 (GRCm39) N265K probably damaging Het
Pigq C T 17: 26,153,199 (GRCm39) V331I probably benign Het
Plekhg4 A G 8: 106,105,329 (GRCm39) E598G probably damaging Het
Pou6f2 G A 13: 18,303,748 (GRCm39) T120M probably damaging Het
Psg27 T A 7: 18,295,726 (GRCm39) T240S probably damaging Het
Samd12 T A 15: 53,723,649 (GRCm39) I15F probably damaging Het
Scaf4 A T 16: 90,049,318 (GRCm39) D256E unknown Het
Scaf8 T A 17: 3,213,373 (GRCm39) M154K unknown Het
Slc27a1 T C 8: 72,032,071 (GRCm39) V64A possibly damaging Het
Smc5 G A 19: 23,237,064 (GRCm39) R256* probably null Het
Snx31 A G 15: 36,555,455 (GRCm39) F31L probably benign Het
Spag17 T C 3: 100,002,888 (GRCm39) S1871P probably benign Het
Tdpoz4 T G 3: 93,704,662 (GRCm39) S320A probably benign Het
Tmprss11c A T 5: 86,379,691 (GRCm39) C406S probably damaging Het
Tssc4 T A 7: 142,624,724 (GRCm39) probably null Het
Uba3 A T 6: 97,182,512 (GRCm39) M1K probably null Het
Usp32 GAACAAGTCCACAACAA GAACAA 11: 84,913,681 (GRCm39) probably null Het
Wnt11 T C 7: 98,496,588 (GRCm39) M176T possibly damaging Het
Wrn C T 8: 33,814,346 (GRCm39) G366D probably benign Het
Xylt1 T A 7: 117,255,807 (GRCm39) I793N probably damaging Het
Zfp677 T G 17: 21,618,679 (GRCm39) C579G probably damaging Het
Zscan4-ps1 T A 7: 10,799,626 (GRCm39) K421M probably damaging Het
Other mutations in Tnip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Tnip1 APN 11 54,831,643 (GRCm39) nonsense probably null
IGL02045:Tnip1 APN 11 54,802,365 (GRCm39) makesense probably null
IGL02227:Tnip1 APN 11 54,827,297 (GRCm39) missense possibly damaging 0.90
IGL03093:Tnip1 APN 11 54,831,652 (GRCm39) nonsense probably null
trinity UTSW 11 54,830,422 (GRCm39) critical splice donor site probably null
R0480:Tnip1 UTSW 11 54,828,820 (GRCm39) missense probably damaging 0.96
R0511:Tnip1 UTSW 11 54,808,699 (GRCm39) missense probably damaging 1.00
R2974:Tnip1 UTSW 11 54,824,809 (GRCm39) unclassified probably benign
R4059:Tnip1 UTSW 11 54,802,395 (GRCm39) missense probably benign 0.01
R4475:Tnip1 UTSW 11 54,830,422 (GRCm39) critical splice donor site probably null
R4509:Tnip1 UTSW 11 54,817,616 (GRCm39) missense probably benign 0.00
R4510:Tnip1 UTSW 11 54,817,616 (GRCm39) missense probably benign 0.00
R4511:Tnip1 UTSW 11 54,817,616 (GRCm39) missense probably benign 0.00
R4702:Tnip1 UTSW 11 54,815,228 (GRCm39) missense probably benign 0.03
R4784:Tnip1 UTSW 11 54,806,365 (GRCm39) missense possibly damaging 0.66
R5008:Tnip1 UTSW 11 54,828,810 (GRCm39) missense probably benign 0.01
R5461:Tnip1 UTSW 11 54,801,625 (GRCm39) unclassified probably benign
R6050:Tnip1 UTSW 11 54,808,703 (GRCm39) missense probably damaging 1.00
R6992:Tnip1 UTSW 11 54,809,542 (GRCm39) missense probably benign 0.01
R7730:Tnip1 UTSW 11 54,828,805 (GRCm39) missense probably benign 0.00
R8503:Tnip1 UTSW 11 54,827,291 (GRCm39) missense probably benign
R9273:Tnip1 UTSW 11 54,807,783 (GRCm39) missense possibly damaging 0.64
R9680:Tnip1 UTSW 11 54,828,876 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- AGCGATACTCAAGGTCCCATC -3'
(R):5'- ACAGCCAGTGCGAAACATGG -3'

Sequencing Primer
(F):5'- GATACTCAAGGTCCCATCAACACTG -3'
(R):5'- CCAGTGCGAAACATGGATGCG -3'
Posted On 2019-06-26