Incidental Mutation 'R1620:Tank'
| ID |
174595 |
| 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 |
039657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.828)
|
| Stock # |
R1620 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
61408929-61484515 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61480442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 326
(D326G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078074]
[ENSMUST00000112494]
[ENSMUST00000112495]
[ENSMUST00000112501]
[ENSMUST00000112502]
|
| AlphaFold |
P70347 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078074
AA Change: D327G
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077219
Gene: ENSMUSG00000064289
AA Change: D327G
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000112494
AA Change: D292G
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108113
Gene: ENSMUSG00000064289
AA Change: D292G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
22 |
63 |
N/A |
INTRINSIC |
|
Pfam:TBD
|
128 |
184 |
5.9e-34 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112495
AA Change: D292G
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108114
Gene: ENSMUSG00000064289
AA Change: D292G
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000112501
AA Change: D293G
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108120
Gene: ENSMUSG00000064289
AA Change: D293G
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000112502
AA Change: D326G
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108121
Gene: ENSMUSG00000064289
AA Change: D326G
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000143515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154693
|
| Meta Mutation Damage Score |
0.1528 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
95% (58/61) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2c2 |
T |
C |
8: 120,475,865 (GRCm39) |
V586A |
probably benign |
Het |
| Atp8a2 |
T |
A |
14: 60,028,632 (GRCm39) |
H945L |
probably benign |
Het |
| Bfar |
G |
T |
16: 13,506,710 (GRCm39) |
V187F |
probably damaging |
Het |
| Capn2 |
A |
T |
1: 182,344,702 (GRCm39) |
I73N |
probably damaging |
Het |
| Cfc1 |
C |
A |
1: 34,575,554 (GRCm39) |
A76E |
possibly damaging |
Het |
| Chl1 |
T |
C |
6: 103,667,203 (GRCm39) |
F398L |
probably benign |
Het |
| Cyp2u1 |
A |
G |
3: 131,096,350 (GRCm39) |
S143P |
probably damaging |
Het |
| Dlgap4 |
T |
A |
2: 156,591,056 (GRCm39) |
Y57* |
probably null |
Het |
| Epha4 |
T |
A |
1: 77,351,563 (GRCm39) |
R897S |
probably benign |
Het |
| Fscn2 |
A |
T |
11: 120,257,511 (GRCm39) |
T291S |
probably damaging |
Het |
| Gga1 |
G |
A |
15: 78,772,670 (GRCm39) |
S267N |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,376,850 (GRCm39) |
T1287A |
probably damaging |
Het |
| Gm10845 |
C |
A |
14: 80,100,669 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11559 |
T |
A |
11: 99,755,882 (GRCm39) |
L177Q |
unknown |
Het |
| Itga9 |
A |
G |
9: 118,672,570 (GRCm39) |
T195A |
probably benign |
Het |
| Krbox5 |
T |
C |
13: 67,991,109 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,074,028 (GRCm39) |
T935A |
probably benign |
Het |
| Lrrk1 |
G |
T |
7: 66,031,286 (GRCm39) |
T4K |
probably benign |
Het |
| Lrrn1 |
G |
A |
6: 107,545,327 (GRCm39) |
C375Y |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,449,144 (GRCm39) |
|
probably null |
Het |
| Mecom |
A |
T |
3: 30,041,237 (GRCm39) |
I119N |
probably damaging |
Het |
| Mrpl2 |
G |
A |
17: 46,958,425 (GRCm39) |
R69H |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,421,773 (GRCm39) |
V8246A |
possibly damaging |
Het |
| Myh3 |
C |
T |
11: 66,979,562 (GRCm39) |
|
probably benign |
Het |
| Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
| Myot |
A |
T |
18: 44,470,125 (GRCm39) |
Q34L |
possibly damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,118,064 (GRCm39) |
D596G |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,372,993 (GRCm39) |
S415P |
possibly damaging |
Het |
| Obox2 |
A |
G |
7: 15,130,966 (GRCm39) |
E66G |
probably benign |
Het |
| Or4f59 |
G |
T |
2: 111,872,591 (GRCm39) |
T262K |
probably benign |
Het |
| Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
| Phactr1 |
G |
T |
13: 43,248,373 (GRCm39) |
V356L |
probably damaging |
Het |
| Pparg |
A |
T |
6: 115,450,242 (GRCm39) |
I414L |
probably benign |
Het |
| Rapgef6 |
A |
T |
11: 54,517,420 (GRCm39) |
I371L |
possibly damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,782,543 (GRCm39) |
V674A |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,815,517 (GRCm39) |
Y159C |
probably damaging |
Het |
| Sf3b6 |
T |
C |
12: 4,876,808 (GRCm39) |
I67T |
possibly damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,915,412 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
A |
G |
17: 88,943,244 (GRCm39) |
T217A |
probably benign |
Het |
| Tbc1d9 |
T |
A |
8: 83,976,224 (GRCm39) |
N594K |
probably damaging |
Het |
| Tfpi2 |
T |
A |
6: 3,965,507 (GRCm39) |
T102S |
probably benign |
Het |
| Ulk4 |
T |
G |
9: 121,033,871 (GRCm39) |
E589D |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,921,947 (GRCm39) |
H305Q |
probably damaging |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,754 (GRCm39) |
K52R |
probably benign |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,133 (GRCm39) |
D250G |
probably damaging |
Het |
| Wdr6 |
A |
T |
9: 108,451,854 (GRCm39) |
D676E |
possibly damaging |
Het |
| Xirp2 |
T |
A |
2: 67,341,179 (GRCm39) |
V1140E |
probably damaging |
Het |
|
| Other mutations in Tank |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
R9628:Tank
|
UTSW |
2 |
61,483,876 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTACATAGCACTCCAGAGGCCC -3'
(R):5'- TCAACAAGCTGTGCTTGAAGAGGAC -3'
Sequencing Primer
(F):5'- CCGAGCATCCTTGCTCCTG -3'
(R):5'- CAAAACAGTTACCTGCTGTGGTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation