Incidental Mutation 'R6561:Tab1'
ID 523149
Institutional Source Beutler Lab
Gene Symbol Tab1
Ensembl Gene ENSMUSG00000022414
Gene Name TGF-beta activated kinase 1/MAP3K7 binding protein 1
Synonyms 2310012M03Rik, Map3k7ip1, b2b449Clo, Tak1-binding protein 1
MMRRC Submission 044685-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6561 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 80017333-80045908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80033031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 105 (V105A)
Ref Sequence ENSEMBL: ENSMUSP00000023050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023050] [ENSMUST00000229320]
AlphaFold Q8CF89
PDB Structure Structural basis of autoactivation of p38 alpha induced by TAB1 (Monoclinic crystal form) [X-RAY DIFFRACTION]
Structural basis of autoactivation of p38 alpha induced by TAB1 (Tetragonal crystal form) [X-RAY DIFFRACTION]
Structural basis of autoactivation of p38 alpha induced by TAB1 (Tetragonal crystal form with bound sulphate) [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000023050
AA Change: V105A

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023050
Gene: ENSMUSG00000022414
AA Change: V105A

DomainStartEndE-ValueType
PP2Cc 26 363 7.45e-40 SMART
low complexity region 397 408 N/A INTRINSIC
low complexity region 438 455 N/A INTRINSIC
PDB:4L3P|A 466 502 6e-17 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000229320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230479
Meta Mutation Damage Score 0.1951 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 97% (30/31)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant fetuses exhibit edema, hemorrhaging, cardiovascular and pulmonary dysmorphogenesis, and die in the late stages of gestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,977,825 (GRCm39) I468F probably benign Het
Ahsa2 T A 11: 23,441,036 (GRCm39) I202F possibly damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Anapc1 A G 2: 128,505,919 (GRCm39) V639A probably damaging Het
Cdh12 A G 15: 21,492,680 (GRCm39) Y233C probably damaging Het
Dchs2 G T 3: 83,036,476 (GRCm39) V408F probably benign Het
Dnmt3c T A 2: 153,561,950 (GRCm39) L551Q probably damaging Het
Dock2 A G 11: 34,578,365 (GRCm39) F746S probably damaging Het
Fastkd3 C T 13: 68,732,149 (GRCm39) R157C possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ier3ip1 T A 18: 77,027,344 (GRCm39) S58T probably damaging Het
Itpr2 A G 6: 146,135,504 (GRCm39) V1809A probably damaging Het
Kif22 T A 7: 126,630,225 (GRCm39) N437I probably benign Het
Klri1 A G 6: 129,693,964 (GRCm39) V41A probably benign Het
Lrrc14 T A 15: 76,597,646 (GRCm39) D125E possibly damaging Het
Nek10 A T 14: 14,828,448 (GRCm38) N90I possibly damaging Het
Nostrin G A 2: 69,011,201 (GRCm39) A331T probably benign Het
Or4k2 T C 14: 50,423,775 (GRCm39) K300E probably damaging Het
Or5b109 A G 19: 13,212,394 (GRCm39) Y260C probably damaging Het
Or8b12i T C 9: 20,082,073 (GRCm39) T265A probably benign Het
Plxna1 A G 6: 89,333,960 (GRCm39) V223A probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Skic3 T A 13: 76,298,638 (GRCm39) S1115T probably damaging Het
Smg1 A T 7: 117,765,300 (GRCm39) probably benign Het
Sorbs1 A G 19: 40,314,496 (GRCm39) I772T probably benign Het
Sptbn2 A G 19: 4,797,954 (GRCm39) N1927S probably benign Het
Trbv15 A T 6: 41,118,414 (GRCm39) T57S probably benign Het
Vmn1r78 A T 7: 11,886,826 (GRCm39) I146F probably damaging Het
Vmn2r39 T A 7: 9,018,092 (GRCm39) Y748F probably damaging Het
Zfp493 T A 13: 67,934,338 (GRCm39) V65D possibly damaging Het
Other mutations in Tab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02686:Tab1 APN 15 80,033,031 (GRCm39) missense probably benign 0.05
memento UTSW 15 80,037,869 (GRCm39) missense probably damaging 0.96
Memoir UTSW 15 80,037,941 (GRCm39) missense probably damaging 1.00
R0085:Tab1 UTSW 15 80,040,094 (GRCm39) missense probably benign 0.00
R1341:Tab1 UTSW 15 80,044,315 (GRCm39) missense possibly damaging 0.86
R1835:Tab1 UTSW 15 80,032,497 (GRCm39) missense probably benign 0.42
R1907:Tab1 UTSW 15 80,037,869 (GRCm39) missense probably damaging 0.96
R3113:Tab1 UTSW 15 80,032,461 (GRCm39) missense probably benign 0.23
R3943:Tab1 UTSW 15 80,037,941 (GRCm39) missense probably damaging 1.00
R3944:Tab1 UTSW 15 80,037,941 (GRCm39) missense probably damaging 1.00
R4845:Tab1 UTSW 15 80,036,964 (GRCm39) missense probably damaging 1.00
R5345:Tab1 UTSW 15 80,034,014 (GRCm39) missense possibly damaging 0.48
R5696:Tab1 UTSW 15 80,032,930 (GRCm39) nonsense probably null
R6223:Tab1 UTSW 15 80,032,464 (GRCm39) missense probably damaging 1.00
R6242:Tab1 UTSW 15 80,039,971 (GRCm39) nonsense probably null
R7239:Tab1 UTSW 15 80,017,372 (GRCm39) missense probably benign 0.15
R7422:Tab1 UTSW 15 80,044,445 (GRCm39) missense probably benign 0.00
R7810:Tab1 UTSW 15 80,042,999 (GRCm39) missense possibly damaging 0.86
R7922:Tab1 UTSW 15 80,043,066 (GRCm39) missense possibly damaging 0.52
R7951:Tab1 UTSW 15 80,043,058 (GRCm39) missense probably damaging 0.98
R8007:Tab1 UTSW 15 80,042,969 (GRCm39) missense possibly damaging 0.94
R8037:Tab1 UTSW 15 80,044,471 (GRCm39) missense probably benign 0.08
R8038:Tab1 UTSW 15 80,044,471 (GRCm39) missense probably benign 0.08
R9221:Tab1 UTSW 15 80,034,754 (GRCm39) missense probably benign 0.00
R9273:Tab1 UTSW 15 80,041,904 (GRCm39) missense probably benign 0.00
R9590:Tab1 UTSW 15 80,040,097 (GRCm39) missense probably damaging 0.97
R9762:Tab1 UTSW 15 80,032,943 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ATGCCTGAAGCCTTCTCTGC -3'
(R):5'- ACCGTGAAGTGTACCCAGAAC -3'

Sequencing Primer
(F):5'- GCATGCCCCTGGTTTCAG -3'
(R):5'- ACCCAGAACTGATCTTTGGTAGG -3'
Posted On 2018-06-06