Incidental Mutation 'R5213:Tank'
ID 403230
Institutional Source Beutler Lab
Gene Symbol Tank
Ensembl Gene ENSMUSG00000064289
Gene Name TRAF family member-associated Nf-kappa B activator
Synonyms E430026L09Rik, I-TRAF
MMRRC Submission 042854-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.828) question?
Stock # R5213 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 61408929-61484515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61480292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 276 (I276N)
Ref Sequence ENSEMBL: ENSMUSP00000108121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078074] [ENSMUST00000112494] [ENSMUST00000112495] [ENSMUST00000112501] [ENSMUST00000112502]
AlphaFold P70347
Predicted Effect probably benign
Transcript: ENSMUST00000078074
AA Change: I277N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000077219
Gene: ENSMUSG00000064289
AA Change: I277N

DomainStartEndE-ValueType
coiled coil region 60 98 N/A INTRINSIC
Pfam:TBD 165 219 1.2e-27 PFAM
ZnF_C2H2 417 443 1.81e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112494
AA Change: I242N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108113
Gene: ENSMUSG00000064289
AA Change: I242N

DomainStartEndE-ValueType
coiled coil region 22 63 N/A INTRINSIC
Pfam:TBD 128 184 5.9e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112495
AA Change: I242N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108114
Gene: ENSMUSG00000064289
AA Change: I242N

DomainStartEndE-ValueType
coiled coil region 22 63 N/A INTRINSIC
Pfam:TBD 128 184 1.3e-33 PFAM
ZnF_C2H2 382 408 1.81e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112501
AA Change: I243N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000108120
Gene: ENSMUSG00000064289
AA Change: I243N

DomainStartEndE-ValueType
coiled coil region 26 64 N/A INTRINSIC
Pfam:TBD 129 185 1.3e-33 PFAM
ZnF_C2H2 383 409 1.81e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112502
AA Change: I276N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000108121
Gene: ENSMUSG00000064289
AA Change: I276N

DomainStartEndE-ValueType
coiled coil region 56 97 N/A INTRINSIC
Pfam:TBD 162 218 8.2e-34 PFAM
ZnF_C2H2 416 442 1.81e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143515
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null mice develop fatal glomerulonephritis owing to deposition of immune complexes. Dendritic cells, macrophages and B cells from these mice are hyper-responsive to stimuli leading to increased production of immunoglobulins and inflammatory cytokines. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C A 4: 86,303,865 (GRCm39) H1342N possibly damaging Het
Adcy2 G T 13: 68,768,942 (GRCm39) T1062K possibly damaging Het
Aqr T C 2: 113,943,808 (GRCm39) N1110S probably damaging Het
Atp10a C T 7: 58,423,731 (GRCm39) T232I probably damaging Het
Atp5pb T A 3: 105,863,227 (GRCm39) K70* probably null Het
Atp8b4 A C 2: 126,231,329 (GRCm39) probably null Het
Atraid A C 5: 31,209,552 (GRCm39) Q72P probably damaging Het
Atxn2 G T 5: 121,952,543 (GRCm39) probably null Het
Best3 A T 10: 116,860,377 (GRCm39) T546S probably benign Het
Brd3 T C 2: 27,353,960 (GRCm39) K51E possibly damaging Het
Brip1 A G 11: 86,034,147 (GRCm39) S525P possibly damaging Het
Cenpf A G 1: 189,387,177 (GRCm39) I1701T probably benign Het
Chrna9 A T 5: 66,128,427 (GRCm39) K208* probably null Het
Clec2l T A 6: 38,657,127 (GRCm39) C197S probably damaging Het
Crp A G 1: 172,526,086 (GRCm39) H57R probably benign Het
Cyp27b1 C A 10: 126,887,964 (GRCm39) T492N probably damaging Het
Dock4 A T 12: 40,726,741 (GRCm39) I340F probably damaging Het
Dsg1b A T 18: 20,528,987 (GRCm39) D241V probably damaging Het
Epg5 G T 18: 78,058,049 (GRCm39) V1865L probably benign Het
Erap1 A G 13: 74,819,614 (GRCm39) probably null Het
Fat2 C T 11: 55,144,658 (GRCm39) C4072Y probably benign Het
Fat4 T A 3: 39,034,340 (GRCm39) I2664N possibly damaging Het
Gabrp A G 11: 33,517,211 (GRCm39) probably null Het
Glis2 G T 16: 4,431,946 (GRCm39) probably benign Het
Gm17654 A G 14: 43,816,559 (GRCm39) S15P probably damaging Het
Gm21836 A G 9: 124,252,736 (GRCm39) V14A unknown Het
Gon7 G A 12: 102,720,380 (GRCm39) T84I possibly damaging Het
Greb1 G T 12: 16,764,791 (GRCm39) Y447* probably null Het
Grip2 A T 6: 91,756,812 (GRCm39) D546E probably benign Het
Hectd1 A G 12: 51,849,316 (GRCm39) probably null Het
Il36a T A 2: 24,114,486 (GRCm39) F120L probably damaging Het
Itga4 T C 2: 79,150,920 (GRCm39) V842A probably benign Het
Khsrp G A 17: 57,331,366 (GRCm39) A404V probably benign Het
Map3k11 T C 19: 5,740,669 (GRCm39) V132A probably damaging Het
Mcub A C 3: 129,710,646 (GRCm39) F262C probably benign Het
Msantd5f6 G T 4: 73,319,571 (GRCm39) Q302K probably damaging Het
Mysm1 A T 4: 94,836,614 (GRCm39) V732E probably damaging Het
Npr2 T A 4: 43,640,673 (GRCm39) probably null Het
Or10d5 A C 9: 39,861,389 (GRCm39) I226S probably damaging Het
Or12d12 T C 17: 37,610,942 (GRCm39) I124V probably damaging Het
Or5k1b T C 16: 58,580,984 (GRCm39) Y185C probably damaging Het
Oxgr1 G T 14: 120,259,552 (GRCm39) Y218* probably null Het
Paf1 A G 7: 28,095,397 (GRCm39) Q161R possibly damaging Het
Pck1 A T 2: 172,997,878 (GRCm39) K316* probably null Het
Plac8 T A 5: 100,704,371 (GRCm39) M109L probably benign Het
Plagl2 A T 2: 153,074,239 (GRCm39) C221S probably damaging Het
Polg T C 7: 79,103,846 (GRCm39) D870G probably damaging Het
Polr2k T A 15: 36,175,143 (GRCm39) M1K probably null Het
Prdm9 T C 17: 15,775,416 (GRCm39) H276R probably damaging Het
Resf1 C A 6: 149,227,551 (GRCm39) P199Q possibly damaging Het
Rgs12 T A 5: 35,122,664 (GRCm39) I149N probably damaging Het
Serpina3i A G 12: 104,231,914 (GRCm39) I184V probably benign Het
Shank3 A G 15: 89,417,481 (GRCm39) E26G possibly damaging Het
Skil T C 3: 31,171,600 (GRCm39) S575P probably damaging Het
Slc13a1 A G 6: 24,108,158 (GRCm39) L306P probably damaging Het
Slc20a1 G T 2: 129,042,429 (GRCm39) W166L probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Snrnp200 G T 2: 127,073,661 (GRCm39) G1353V probably damaging Het
Spata6l A T 19: 28,940,964 (GRCm39) V50E probably benign Het
Sphkap A G 1: 83,258,224 (GRCm39) I173T probably damaging Het
Stab2 A T 10: 86,743,061 (GRCm39) F1183I probably damaging Het
Stard9 A G 2: 120,529,707 (GRCm39) D1988G probably damaging Het
Tcaf3 A G 6: 42,568,401 (GRCm39) W652R probably damaging Het
Tgm2 G A 2: 157,984,980 (GRCm39) T42I possibly damaging Het
Tnni2 G T 7: 141,997,039 (GRCm39) probably null Het
Tns1 A G 1: 73,992,771 (GRCm39) S9P probably damaging Het
Tram1 T C 1: 13,649,966 (GRCm39) Y86C probably damaging Het
Trdv2-1 T C 14: 54,183,863 (GRCm39) S32P probably benign Het
Trim24 T C 6: 37,934,010 (GRCm39) I651T probably damaging Het
Trpm3 T G 19: 22,674,818 (GRCm39) Y72* probably null Het
Ube2o G A 11: 116,432,285 (GRCm39) P894S possibly damaging Het
Ubr4 C T 4: 139,129,877 (GRCm39) R666* probably null Het
Ugt1a8 T A 1: 88,015,845 (GRCm39) L86* probably null Het
Usp32 T A 11: 84,913,085 (GRCm39) N941I probably damaging Het
Utrn C T 10: 12,512,504 (GRCm39) V2322M probably damaging Het
Vmn1r184 A T 7: 25,967,136 (GRCm39) Y294F probably damaging Het
Vmn2r108 T C 17: 20,691,755 (GRCm39) N256S probably benign Het
Wdr7 T C 18: 63,888,197 (GRCm39) S557P probably damaging Het
Xrra1 C A 7: 99,547,690 (GRCm39) P293Q possibly damaging Het
Zc3h18 A G 8: 123,110,388 (GRCm39) D79G probably damaging Het
Zfp74 A T 7: 29,634,668 (GRCm39) Y347N probably damaging Het
Zfp740 T C 15: 102,121,082 (GRCm39) C169R possibly damaging Het
Other mutations in Tank
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02994:Tank APN 2 61,480,636 (GRCm39) splice site probably benign
malade UTSW 2 61,474,768 (GRCm39) critical splice donor site probably null
marmalade UTSW 2 61,483,766 (GRCm39) missense probably benign 0.00
R1620:Tank UTSW 2 61,480,442 (GRCm39) missense possibly damaging 0.92
R1671:Tank UTSW 2 61,480,097 (GRCm39) missense probably damaging 0.99
R1862:Tank UTSW 2 61,480,256 (GRCm39) missense probably damaging 1.00
R3918:Tank UTSW 2 61,474,130 (GRCm39) critical splice donor site probably null
R4714:Tank UTSW 2 61,480,573 (GRCm39) missense probably benign 0.01
R4727:Tank UTSW 2 61,483,876 (GRCm39) missense probably benign 0.05
R4865:Tank UTSW 2 61,408,979 (GRCm39) start gained probably benign
R4867:Tank UTSW 2 61,408,979 (GRCm39) start gained probably benign
R5023:Tank UTSW 2 61,408,979 (GRCm39) start gained probably benign
R5562:Tank UTSW 2 61,480,552 (GRCm39) missense possibly damaging 0.59
R5950:Tank UTSW 2 61,483,913 (GRCm39) utr 3 prime probably benign
R6221:Tank UTSW 2 61,480,427 (GRCm39) missense probably damaging 1.00
R6626:Tank UTSW 2 61,480,640 (GRCm39) splice site probably benign
R6670:Tank UTSW 2 61,474,768 (GRCm39) critical splice donor site probably null
R6850:Tank UTSW 2 61,480,346 (GRCm39) missense probably benign 0.19
R7027:Tank UTSW 2 61,483,766 (GRCm39) missense probably benign 0.00
R7478:Tank UTSW 2 61,480,513 (GRCm39) missense probably damaging 1.00
R8293:Tank UTSW 2 61,474,758 (GRCm39) missense possibly damaging 0.62
R8678:Tank UTSW 2 61,457,287 (GRCm39) missense probably damaging 0.99
R8866:Tank UTSW 2 61,409,005 (GRCm39) missense probably benign 0.23
R9162:Tank UTSW 2 61,480,432 (GRCm39) missense possibly damaging 0.59
R9628:Tank UTSW 2 61,483,876 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TGTTCTGTGCCTATACAGTGTAC -3'
(R):5'- CGTCGCTCTAAGATTTGAGGG -3'

Sequencing Primer
(F):5'- GTGCCTATACAGTGTACTGATAAAAC -3'
(R):5'- CGCTCTAAGATTTGAGGGGTTTG -3'
Posted On 2016-07-22