Incidental Mutation 'R9628:Tank'
ID 725255
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.852) question?
Stock # R9628 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 61408929-61484515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61483876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 441 (T441A)
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: T442A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000077219
Gene: ENSMUSG00000064289
AA Change: T442A

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
SMART Domains Protein: ENSMUSP00000108113
Gene: ENSMUSG00000064289

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: T407A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000108114
Gene: ENSMUSG00000064289
AA Change: T407A

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: T408A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108120
Gene: ENSMUSG00000064289
AA Change: T408A

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: T441A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108121
Gene: ENSMUSG00000064289
AA Change: T441A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 T C 16: 56,553,193 (GRCm39) N635D probably damaging Het
Ankrd13c G C 3: 157,653,313 (GRCm39) K50N probably benign Het
Arhgef38 T C 3: 132,838,025 (GRCm39) Y635C unknown Het
Avl9 T A 6: 56,713,460 (GRCm39) Y239* probably null Het
C2cd3 T A 7: 100,097,961 (GRCm39) H1449Q Het
Ccdc141 G A 2: 76,844,838 (GRCm39) P1410S probably damaging Het
Ccz1 G A 5: 143,925,043 (GRCm39) T471M possibly damaging Het
Cdh26 T C 2: 178,083,213 (GRCm39) S27P Het
Cdk11b T G 4: 155,734,154 (GRCm39) D756E unknown Het
Celsr3 C A 9: 108,703,559 (GRCm39) S14* probably null Het
Cntrob T C 11: 69,213,782 (GRCm39) T3A possibly damaging Het
Cracd A G 5: 77,004,923 (GRCm39) E428G unknown Het
Csde1 T C 3: 102,962,825 (GRCm39) V738A probably benign Het
Dazap1 T C 10: 80,118,999 (GRCm39) Y230H unknown Het
Dip2a A G 10: 76,142,993 (GRCm39) I264T probably damaging Het
Dleu7 C A 14: 62,530,144 (GRCm39) A86S possibly damaging Het
Dnmbp T A 19: 43,858,646 (GRCm39) D132V probably damaging Het
Dppa4 T C 16: 48,111,672 (GRCm39) V219A probably benign Het
Dsg1c T A 18: 20,397,373 (GRCm39) I27N probably damaging Het
Egr4 T C 6: 85,489,292 (GRCm39) Y256C probably benign Het
Ess2 A T 16: 17,720,757 (GRCm39) M363K probably damaging Het
Fam124a A G 14: 62,825,010 (GRCm39) E168G probably damaging Het
Gata4 T C 14: 63,478,545 (GRCm39) Y18C probably damaging Het
Gckr C A 5: 31,457,934 (GRCm39) A147D probably damaging Het
H1f8 G A 6: 115,924,700 (GRCm39) V69I probably damaging Het
Hook1 T C 4: 95,901,560 (GRCm39) L506P probably damaging Het
Hormad2 G A 11: 4,377,372 (GRCm39) P22L probably damaging Het
Larp1b T C 3: 40,916,103 (GRCm39) probably null Het
Ldhb T C 6: 142,439,862 (GRCm39) E226G probably damaging Het
Lpar5 T G 6: 125,058,948 (GRCm39) V223G probably damaging Het
Lrrc37a A G 11: 103,394,330 (GRCm39) V365A probably benign Het
Lrrtm3 T C 10: 63,923,776 (GRCm39) K464E probably damaging Het
Ly75 A G 2: 60,158,285 (GRCm39) I1000T probably damaging Het
Myo1d C A 11: 80,448,296 (GRCm39) G943V possibly damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nphp4 T C 4: 152,568,966 (GRCm39) L35P probably damaging Het
Nptx2 G A 5: 144,490,261 (GRCm39) R230H probably benign Het
Ntsr1 G A 2: 180,183,274 (GRCm39) R328H probably damaging Het
Or1e25 G A 11: 73,493,864 (GRCm39) V153I probably benign Het
Or4c111 A G 2: 88,843,670 (GRCm39) V246A probably damaging Het
Or8b1 T G 9: 38,399,871 (GRCm39) L182R probably benign Het
Padi6 G A 4: 140,464,626 (GRCm39) T201I probably damaging Het
Plscr4 C T 9: 92,354,985 (GRCm39) T13I possibly damaging Het
Ppp6r1 G A 7: 4,636,112 (GRCm39) A782V probably benign Het
Rab18 G A 18: 6,788,647 (GRCm39) V205M probably benign Het
Rhobtb1 T C 10: 69,106,653 (GRCm39) V468A probably damaging Het
Rhox8 GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT X: 36,966,991 (GRCm39) probably benign Het
Scaf11 A T 15: 96,317,398 (GRCm39) I722N probably benign Het
Slc17a4 A G 13: 24,089,512 (GRCm39) V135A possibly damaging Het
Slc30a5 A G 13: 100,961,422 (GRCm39) probably null Het
Slc5a6 T C 5: 31,197,746 (GRCm39) Y321C probably benign Het
Spag7 A T 11: 70,555,186 (GRCm39) D178E probably benign Het
Swsap1 T G 9: 21,867,172 (GRCm39) S39A Het
Tor1aip1 C A 1: 155,893,320 (GRCm39) G276* probably null Het
Usp47 G A 7: 111,705,999 (GRCm39) M1220I probably benign Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r35 A G 7: 7,815,702 (GRCm39) V489A probably benign Het
Wif1 T C 10: 120,932,549 (GRCm39) V309A possibly damaging Het
Xpo4 T C 14: 57,842,630 (GRCm39) N434D probably damaging Het
Zfp462 A T 4: 55,009,423 (GRCm39) H463L probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ACTTGGGTGTGAAATTTGATGCAAG -3'
(R):5'- CTGGGCAACTAATGATTGATTCG -3'

Sequencing Primer
(F):5'- AAAAGATGTTTTTGTTTGTTTCCTGC -3'
(R):5'- CTGAATAACTCTGTAAGTCACATGTG -3'
Posted On 2022-09-12