Incidental Mutation 'R7951:Tab1'
ID 649583
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7951 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 80017333-80045908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 80043058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 417 (N417K)
Ref Sequence ENSEMBL: ENSMUSP00000023050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023050]
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 damaging
Transcript: ENSMUST00000023050
AA Change: N417K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023050
Gene: ENSMUSG00000022414
AA Change: N417K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 G A 17: 85,004,957 (GRCm39) G575S probably damaging Het
Acacb G T 5: 114,326,401 (GRCm39) A256S probably damaging Het
Adamts20 T C 15: 94,238,947 (GRCm39) D757G probably damaging Het
Adgra3 A G 5: 50,121,126 (GRCm39) V834A probably damaging Het
Adgrv1 A G 13: 81,711,689 (GRCm39) S1096P probably damaging Het
Bmal2 T G 6: 146,714,732 (GRCm39) L135R probably damaging Het
Cct4 T C 11: 22,940,868 (GRCm39) S39P probably benign Het
Cep97 T C 16: 55,725,820 (GRCm39) N689S probably benign Het
Col11a1 T A 3: 113,888,864 (GRCm39) D302E unknown Het
D5Ertd579e C T 5: 36,772,517 (GRCm39) S626N probably benign Het
Dido1 A T 2: 180,312,674 (GRCm39) C1074S probably benign Het
Dnah17 C T 11: 118,009,592 (GRCm39) R660H possibly damaging Het
Dnhd1 A T 7: 105,327,211 (GRCm39) D720V probably damaging Het
Dst T C 1: 34,240,267 (GRCm39) M1872T probably benign Het
Enpp2 T C 15: 54,783,089 (GRCm39) I13M probably benign Het
Fcho1 A G 8: 72,164,920 (GRCm39) F454L probably benign Het
Gad2 A G 2: 22,513,499 (GRCm39) K43R probably damaging Het
Galnt3 C T 2: 65,928,186 (GRCm39) E237K probably benign Het
Hey1 A G 3: 8,729,932 (GRCm39) L175P possibly damaging Het
Jade1 G A 3: 41,546,190 (GRCm39) V72M probably damaging Het
Klhl28 G A 12: 65,003,875 (GRCm39) R213W probably damaging Het
Kprp C T 3: 92,731,637 (GRCm39) R471H unknown Het
Lmtk3 A T 7: 45,435,030 (GRCm39) M27L probably benign Het
Lrp1 A T 10: 127,374,933 (GRCm39) Y4508* probably null Het
Lypd5 T C 7: 24,051,060 (GRCm39) V57A probably damaging Het
Mapk9 T G 11: 49,754,422 (GRCm39) S58R probably damaging Het
Mycbp2 T C 14: 103,452,898 (GRCm39) K1661R probably damaging Het
Myl2 C T 5: 122,244,750 (GRCm39) A140V probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nckap1l T C 15: 103,381,542 (GRCm39) Y428H probably damaging Het
Nt5c1a T C 4: 123,105,978 (GRCm39) F144S probably benign Het
Ofcc1 C T 13: 40,433,781 (GRCm39) R108Q probably benign Het
Or4c100 A T 2: 88,356,148 (GRCm39) T74S probably damaging Het
Or5d14 A T 2: 87,880,601 (GRCm39) Y122* probably null Het
Or5d40 G T 2: 88,015,616 (GRCm39) V132F probably damaging Het
Pabpc4 T G 4: 123,177,532 (GRCm39) V42G probably damaging Het
Prrc2a A T 17: 35,379,477 (GRCm39) N311K unknown Het
Rcbtb2 A T 14: 73,403,992 (GRCm39) R197* probably null Het
Rfc4 A G 16: 22,934,135 (GRCm39) I222T probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,119 (GRCm39) probably benign Het
Rufy1 T C 11: 50,321,736 (GRCm39) D66G probably benign Het
Rxfp1 A T 3: 79,559,682 (GRCm39) C380S probably damaging Het
Scn5a A G 9: 119,358,145 (GRCm39) C699R probably damaging Het
Syngap1 G T 17: 27,185,942 (GRCm39) A1291S possibly damaging Het
Tenm3 A G 8: 48,763,738 (GRCm39) V772A possibly damaging Het
Tmem25 T A 9: 44,706,790 (GRCm39) K285I probably damaging Het
Tnks2 A G 19: 36,839,555 (GRCm39) N51D Het
Trpm7 G A 2: 126,655,188 (GRCm39) T1250I possibly damaging Het
Trpv4 T C 5: 114,760,871 (GRCm39) D820G probably benign Het
Tsg101 T A 7: 46,540,891 (GRCm39) I289L probably benign Het
Tubgcp2 C A 7: 139,587,893 (GRCm39) R244L possibly damaging Het
Vmn1r173 C A 7: 23,402,680 (GRCm39) T305K unknown Het
Vmn1r53 A T 6: 90,201,132 (GRCm39) I64K possibly damaging Het
Zfp444 T C 7: 6,191,185 (GRCm39) V122A probably benign Het
Zfp599 A G 9: 22,160,764 (GRCm39) L467P probably damaging Het
Zic1 T C 9: 91,244,654 (GRCm39) E335G probably 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
R6561:Tab1 UTSW 15 80,033,031 (GRCm39) missense probably benign 0.05
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
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'- AGGCCACTACCTTGGTTTCC -3'
(R):5'- AATACCTGCTAGAACCTGTGTC -3'

Sequencing Primer
(F):5'- ACTACCTTGGTTTCCTCCGACTG -3'
(R):5'- CCTGCTAGAACCTGTGTCTAATAAG -3'
Posted On 2020-09-15