Incidental Mutation 'R0068:Tab2'
| ID |
16879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tab2
|
| Ensembl Gene |
ENSMUSG00000015755 |
| Gene Name |
TGF-beta activated kinase 1/MAP3K7 binding protein 2 |
| Synonyms |
1110030N06Rik, Map3k7ip2, A530078N03Rik, Tak1 binding protein 2 |
| MMRRC Submission |
038359-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0068 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
7781417-7831994 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 7795441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 347
(R347L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000130322]
[ENSMUST00000146444]
[ENSMUST00000147938]
|
| AlphaFold |
Q99K90 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130322
AA Change: R273L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122559
Gene: ENSMUSG00000015755
AA Change: R273L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
212 |
237 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146444
AA Change: R347L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121266
Gene: ENSMUSG00000015755
AA Change: R347L
| Domain | Start | End | E-Value | Type |
|---|
|
CUE
|
8 |
50 |
1.15e-10 |
SMART |
|
low complexity region
|
286 |
311 |
N/A |
INTRINSIC |
|
coiled coil region
|
532 |
619 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
666 |
690 |
1.91e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147938
AA Change: R347L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119515
Gene: ENSMUSG00000015755
AA Change: R347L
| Domain | Start | End | E-Value | Type |
|---|
|
CUE
|
8 |
50 |
1.15e-10 |
SMART |
|
low complexity region
|
286 |
311 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1094 |
| Coding Region Coverage |
- 1x: 89.9%
- 3x: 97.6%
- 10x: 82.1%
- 20x: 74.0%
|
| Validation Efficiency |
94% (83/88) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Embryos homozygous for a knock-out allele are viable up to E9.5. Embryos homozygous for a different knock-out allele are normal and viable up to E11.5 but become pale and anemic, exhibit liver hemorrhage and increased apoptosis of hepatoblasts, and die by E12.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,036,405 (GRCm39) |
N568S |
probably damaging |
Het |
| Aldoart2 |
G |
T |
12: 55,612,233 (GRCm39) |
E53* |
probably null |
Het |
| Ankra2 |
C |
T |
13: 98,409,891 (GRCm39) |
Q137* |
probably null |
Het |
| Arpc1a |
C |
T |
5: 145,028,054 (GRCm39) |
T21I |
possibly damaging |
Het |
| Arvcf |
T |
C |
16: 18,214,819 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,914,624 (GRCm39) |
S1751R |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,006,370 (GRCm39) |
T1675A |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,989,336 (GRCm39) |
G2139C |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,065,491 (GRCm39) |
S22T |
probably damaging |
Het |
| Ccdc148 |
T |
C |
2: 58,717,629 (GRCm39) |
E530G |
probably benign |
Het |
| Cct3 |
A |
G |
3: 88,225,772 (GRCm39) |
D365G |
probably benign |
Het |
| Cep85 |
A |
T |
4: 133,881,606 (GRCm39) |
H332Q |
probably benign |
Het |
| Cwf19l1 |
A |
T |
19: 44,119,938 (GRCm39) |
Y68N |
probably damaging |
Het |
| Dlc1 |
T |
A |
8: 37,404,875 (GRCm39) |
M305L |
probably benign |
Het |
| Dnm1l |
C |
A |
16: 16,141,883 (GRCm39) |
G288C |
probably damaging |
Het |
| Exoc7 |
T |
C |
11: 116,195,732 (GRCm39) |
Y83C |
probably damaging |
Het |
| Fignl2 |
A |
T |
15: 100,952,129 (GRCm39) |
I51N |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,915,290 (GRCm38) |
N1474D |
possibly damaging |
Het |
| Ghrhr |
C |
T |
6: 55,357,849 (GRCm39) |
|
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,942,185 (GRCm39) |
T525A |
probably benign |
Het |
| Hhip |
T |
G |
8: 80,715,885 (GRCm39) |
D557A |
probably damaging |
Het |
| Hps5 |
A |
G |
7: 46,426,466 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,238,045 (GRCm39) |
V712D |
probably damaging |
Het |
| Irf6 |
G |
T |
1: 192,848,067 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,323,034 (GRCm39) |
|
probably benign |
Het |
| Jag2 |
A |
G |
12: 112,878,813 (GRCm39) |
|
probably benign |
Het |
| Kansl1l |
A |
G |
1: 66,760,047 (GRCm39) |
V911A |
probably benign |
Het |
| Kdm3b |
C |
T |
18: 34,957,827 (GRCm39) |
T1064I |
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 102,899,279 (GRCm39) |
Q1654L |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,666,404 (GRCm39) |
T1366A |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,330,892 (GRCm39) |
|
probably benign |
Het |
| Napb |
G |
A |
2: 148,540,843 (GRCm39) |
|
probably benign |
Het |
| Nebl |
T |
A |
2: 17,439,782 (GRCm39) |
R164* |
probably null |
Het |
| Npc1 |
G |
C |
18: 12,341,424 (GRCm39) |
P532A |
probably benign |
Het |
| Nrp2 |
G |
T |
1: 62,784,536 (GRCm39) |
K228N |
possibly damaging |
Het |
| Or13f5 |
T |
A |
4: 52,825,503 (GRCm39) |
Y35* |
probably null |
Het |
| Plekhg1 |
A |
T |
10: 3,890,502 (GRCm39) |
Y386F |
probably damaging |
Het |
| Pmfbp1 |
G |
C |
8: 110,269,011 (GRCm39) |
|
probably benign |
Het |
| Poln |
T |
C |
5: 34,234,432 (GRCm39) |
|
probably benign |
Het |
| Polr1c |
A |
G |
17: 46,555,829 (GRCm39) |
V200A |
probably benign |
Het |
| Ppil1 |
A |
T |
17: 29,471,230 (GRCm39) |
F92I |
probably damaging |
Het |
| Ptchd3 |
T |
G |
11: 121,733,798 (GRCm39) |
L896R |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,700,827 (GRCm39) |
N1775D |
possibly damaging |
Het |
| Robo4 |
G |
A |
9: 37,315,773 (GRCm39) |
R342Q |
probably benign |
Het |
| Rusc2 |
T |
C |
4: 43,424,100 (GRCm39) |
|
probably benign |
Het |
| S100pbp |
T |
C |
4: 129,038,249 (GRCm39) |
|
probably benign |
Het |
| Slc25a48 |
T |
C |
13: 56,599,024 (GRCm39) |
V118A |
probably damaging |
Het |
| Slc38a10 |
T |
C |
11: 120,025,679 (GRCm39) |
D219G |
probably damaging |
Het |
| Slc38a2 |
C |
T |
15: 96,589,173 (GRCm39) |
|
probably null |
Het |
| Slc39a12 |
A |
G |
2: 14,440,489 (GRCm39) |
E480G |
probably benign |
Het |
| Tas2r123 |
T |
C |
6: 132,824,955 (GRCm39) |
I284T |
possibly damaging |
Het |
| Tex9 |
A |
G |
9: 72,394,051 (GRCm39) |
|
probably benign |
Het |
| Tifab |
A |
G |
13: 56,324,218 (GRCm39) |
L75P |
probably damaging |
Het |
| Tmc5 |
T |
A |
7: 118,233,460 (GRCm39) |
D91E |
probably benign |
Het |
| Tnks1bp1 |
T |
A |
2: 84,892,696 (GRCm39) |
D212E |
probably benign |
Het |
| Ugcg |
A |
G |
4: 59,217,130 (GRCm39) |
D218G |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,816,706 (GRCm39) |
L198I |
probably damaging |
Het |
|
| Other mutations in Tab2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00964:Tab2
|
APN |
10 |
7,785,837 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01316:Tab2
|
APN |
10 |
7,800,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01902:Tab2
|
APN |
10 |
7,795,756 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03338:Tab2
|
APN |
10 |
7,795,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cosmo
|
UTSW |
10 |
7,800,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cosmo-2
|
UTSW |
10 |
7,783,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Tab2
|
UTSW |
10 |
7,795,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0271:Tab2
|
UTSW |
10 |
7,794,922 (GRCm39) |
missense |
probably benign |
|
|
R0458:Tab2
|
UTSW |
10 |
7,795,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Tab2
|
UTSW |
10 |
7,795,883 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0632:Tab2
|
UTSW |
10 |
7,795,565 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0744:Tab2
|
UTSW |
10 |
7,783,345 (GRCm39) |
unclassified |
probably benign |
|
|
R1162:Tab2
|
UTSW |
10 |
7,800,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Tab2
|
UTSW |
10 |
7,795,812 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1954:Tab2
|
UTSW |
10 |
7,795,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Tab2
|
UTSW |
10 |
7,783,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2518:Tab2
|
UTSW |
10 |
7,783,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Tab2
|
UTSW |
10 |
7,783,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3418:Tab2
|
UTSW |
10 |
7,783,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4081:Tab2
|
UTSW |
10 |
7,795,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4177:Tab2
|
UTSW |
10 |
7,795,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4178:Tab2
|
UTSW |
10 |
7,795,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5410:Tab2
|
UTSW |
10 |
7,795,585 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5681:Tab2
|
UTSW |
10 |
7,795,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5683:Tab2
|
UTSW |
10 |
7,794,876 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6857:Tab2
|
UTSW |
10 |
7,796,177 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7424:Tab2
|
UTSW |
10 |
7,783,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7692:Tab2
|
UTSW |
10 |
7,786,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7790:Tab2
|
UTSW |
10 |
7,796,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Tab2
|
UTSW |
10 |
7,794,897 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8897:Tab2
|
UTSW |
10 |
7,786,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Tab2
|
UTSW |
10 |
7,794,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9482:Tab2
|
UTSW |
10 |
7,795,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9616:Tab2
|
UTSW |
10 |
7,795,005 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9733:Tab2
|
UTSW |
10 |
7,795,214 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1088:Tab2
|
UTSW |
10 |
7,796,030 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1177:Tab2
|
UTSW |
10 |
7,794,943 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2013-01-20 |
Incidental Mutation