Incidental Mutation 'R6626:Tank'
ID 524784
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 044748-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.828) question?
Stock # R6626 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 61408929-61484515 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 61480640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000077219
Gene: ENSMUSG00000064289

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 unknown
Transcript: ENSMUST00000112494
AA Change: V358D
SMART Domains Protein: ENSMUSP00000108113
Gene: ENSMUSG00000064289
AA Change: V358D

DomainStartEndE-ValueType
coiled coil region 22 63 N/A INTRINSIC
Pfam:TBD 128 184 5.9e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112495
SMART Domains Protein: ENSMUSP00000108114
Gene: ENSMUSG00000064289

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
SMART Domains Protein: ENSMUSP00000108120
Gene: ENSMUSG00000064289

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
SMART Domains Protein: ENSMUSP00000108121
Gene: ENSMUSG00000064289

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: ENSMUST00000143515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154693
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 97% (36/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik T C 11: 3,888,056 (GRCm39) H110R unknown Het
Adgrv1 T A 13: 81,666,245 (GRCm39) D1937V probably damaging Het
Ank1 T A 8: 23,465,207 (GRCm39) L19H probably damaging Het
Bcl9 C T 3: 97,122,712 (GRCm39) R29H probably benign Het
Boc A T 16: 44,340,803 (GRCm39) I49N possibly damaging Het
C8a T C 4: 104,703,164 (GRCm39) I298V probably benign Het
Cacna1s T C 1: 136,022,703 (GRCm39) S879P probably damaging Het
Cacna2d3 T C 14: 28,786,143 (GRCm39) probably benign Het
Dnm1 A G 2: 32,230,892 (GRCm39) I63T probably damaging Het
Flnb C T 14: 7,929,012 (GRCm38) R1914C probably damaging Het
Gm9493 A T 19: 23,597,209 (GRCm39) K35M possibly damaging Het
Gpld1 T C 13: 25,163,953 (GRCm39) S552P probably damaging Het
Hacd1 T A 2: 14,031,755 (GRCm39) I243F probably benign Het
Klhdc4 A G 8: 122,546,901 (GRCm39) V110A probably benign Het
Krt26 C T 11: 99,220,528 (GRCm39) V441M probably benign Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Nav2 A G 7: 49,244,100 (GRCm39) Y2109C probably damaging Het
Ncbp3 T A 11: 72,964,210 (GRCm39) S387T possibly damaging Het
Notch2 T G 3: 98,008,921 (GRCm39) V513G probably damaging Het
Nt5c1b A T 12: 10,424,837 (GRCm39) R128* probably null Het
Olig2 T C 16: 91,024,044 (GRCm39) S253P unknown Het
Or6b1 A G 6: 42,815,582 (GRCm39) M256V probably benign Het
Or8g17 A G 9: 38,930,402 (GRCm39) V145A possibly damaging Het
Or8k53 C T 2: 86,177,364 (GRCm39) V249I possibly damaging Het
Phkb T A 8: 86,648,780 (GRCm39) F199I probably damaging Het
Rnf17 A G 14: 56,665,381 (GRCm39) T178A possibly damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Homo
Sfxn2 A T 19: 46,570,967 (GRCm39) N9I possibly damaging Het
Slc16a4 G A 3: 107,208,512 (GRCm39) A341T possibly damaging Het
Spata31h1 A G 10: 82,128,667 (GRCm39) F1448L probably benign Het
Tnr A T 1: 159,677,822 (GRCm39) Y69F probably damaging Het
Trp53bp1 T C 2: 121,038,284 (GRCm39) D1518G probably damaging Het
Txndc16 T C 14: 45,398,792 (GRCm39) probably null Het
Ugp2 A G 11: 21,281,028 (GRCm39) Y227H probably damaging Het
Vps50 G A 6: 3,551,101 (GRCm39) W388* probably null Het
Zfp516 T A 18: 83,006,232 (GRCm39) D1045E probably damaging Het
Zscan10 C T 17: 23,824,831 (GRCm39) P96S probably 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
R5213:Tank UTSW 2 61,480,292 (GRCm39) missense probably benign 0.01
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
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'- GGGAATTGACCCCATAACTTCAG -3'
(R):5'- ACAGTATCACAAGGAAGCTTTAGC -3'

Sequencing Primer
(F):5'- TTGACCCCATAACTTCAGCTATAC -3'
(R):5'- GCGCAGTCACATTCAAAATTCATGTC -3'
Posted On 2018-06-22