Incidental Mutation 'R3943:Tab1'
| ID |
307561 |
| 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 |
040924-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3943 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80017333-80045908 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80037941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 258
(L258P)
|
| 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 damaging
Transcript: ENSMUST00000023050
AA Change: L258P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023050
Gene: ENSMUSG00000022414
AA Change: L258P
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Meta Mutation Damage Score |
0.6513 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (49/50) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
A |
G |
2: 168,026,980 (GRCm39) |
I105T |
possibly damaging |
Het |
| Atf3 |
A |
G |
1: 190,903,713 (GRCm39) |
I171T |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,946,343 (GRCm39) |
I773V |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,160,350 (GRCm39) |
L603* |
probably null |
Het |
| Cad |
T |
A |
5: 31,229,729 (GRCm39) |
|
probably null |
Het |
| Camkv |
T |
A |
9: 107,825,182 (GRCm39) |
D366E |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,913,039 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,880,668 (GRCm39) |
S932P |
probably damaging |
Het |
| Fam227a |
C |
T |
15: 79,505,060 (GRCm39) |
|
probably benign |
Het |
| Fbp2 |
A |
G |
13: 62,989,607 (GRCm39) |
F233S |
possibly damaging |
Het |
| Gnptab |
G |
T |
10: 88,269,756 (GRCm39) |
V820L |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gpr158 |
C |
A |
2: 21,373,370 (GRCm39) |
R102S |
possibly damaging |
Het |
| Gramd1b |
A |
T |
9: 40,442,340 (GRCm39) |
M1K |
probably null |
Het |
| H2-T23 |
A |
G |
17: 36,341,535 (GRCm39) |
V312A |
probably benign |
Het |
| Hltf |
A |
T |
3: 20,146,908 (GRCm39) |
I494F |
probably damaging |
Het |
| Il16 |
G |
A |
7: 83,301,223 (GRCm39) |
L300F |
probably damaging |
Het |
| Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
| Kcnq1 |
T |
C |
7: 142,979,825 (GRCm39) |
L657P |
probably damaging |
Het |
| Krt4 |
G |
A |
15: 101,829,685 (GRCm39) |
T281M |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,140,127 (GRCm39) |
F196S |
possibly damaging |
Het |
| Naip6 |
T |
C |
13: 100,431,247 (GRCm39) |
T1197A |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,523,365 (GRCm39) |
N204K |
probably damaging |
Het |
| Or7g27 |
T |
A |
9: 19,250,371 (GRCm39) |
M205K |
probably benign |
Het |
| Rassf6 |
G |
T |
5: 90,752,185 (GRCm39) |
Q258K |
possibly damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,583,655 (GRCm39) |
L380P |
probably damaging |
Het |
| Ribc2 |
A |
G |
15: 85,019,451 (GRCm39) |
M78V |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,799,950 (GRCm39) |
H73L |
probably damaging |
Het |
| Smg6 |
G |
A |
11: 74,820,367 (GRCm39) |
G213R |
probably damaging |
Het |
| Sspn |
T |
A |
6: 145,880,083 (GRCm39) |
W62R |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,710 (GRCm39) |
S1656G |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,084,807 (GRCm39) |
|
probably null |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trf |
T |
A |
9: 103,100,151 (GRCm39) |
I271F |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,673,138 (GRCm39) |
N538K |
possibly damaging |
Het |
| Usp28 |
T |
A |
9: 48,911,666 (GRCm39) |
L25I |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,363,930 (GRCm39) |
I662N |
probably damaging |
Het |
| Vmn2r42 |
A |
T |
7: 8,197,779 (GRCm39) |
F280Y |
possibly damaging |
Het |
| Vps8 |
A |
T |
16: 21,288,873 (GRCm39) |
N411Y |
probably damaging |
Het |
| Vwa2 |
T |
G |
19: 56,897,747 (GRCm39) |
L684R |
probably damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,396 (GRCm39) |
Q377R |
probably benign |
Het |
| Zfp947 |
C |
A |
17: 22,364,801 (GRCm39) |
G291V |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,927,656 (GRCm39) |
T366A |
probably benign |
Het |
|
| Other mutations in Tab1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- TGTAGGCGGAGACCTGTTAG -3'
(R):5'- AGCTCACAGGATCAGACTGC -3'
Sequencing Primer
(F):5'- TGTGACTCTCCATCATGACAGGG -3'
(R):5'- TCAGACTGCTGACCTAGGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation