Incidental Mutation 'R6355:Tnip2'
| ID |
512330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnip2
|
| Ensembl Gene |
ENSMUSG00000059866 |
| Gene Name |
TNFAIP3 interacting protein 2 |
| Synonyms |
ABIN-2, 1810020H16Rik |
| MMRRC Submission |
044507-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R6355 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
34653440-34671323 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 34656541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 255
(Q255*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030991]
[ENSMUST00000087737]
[ENSMUST00000114359]
|
| AlphaFold |
Q99JG7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030991
AA Change: Q359*
|
| SMART Domains |
Protein: ENSMUSP00000030991
Gene: ENSMUSG00000059866
AA Change: Q359*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
30 |
123 |
N/A |
INTRINSIC |
|
Pfam:EABR
|
236 |
269 |
7.2e-21 |
PFAM |
|
Pfam:CC2-LZ
|
264 |
364 |
5.5e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000087737
AA Change: Q338*
|
| SMART Domains |
Protein: ENSMUSP00000085030
Gene: ENSMUSG00000059866
AA Change: Q338*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
30 |
123 |
N/A |
INTRINSIC |
|
Pfam:EABR
|
215 |
249 |
4.9e-23 |
PFAM |
|
coiled coil region
|
256 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114359
AA Change: Q255*
|
| SMART Domains |
Protein: ENSMUSP00000109999
Gene: ENSMUSG00000059866
AA Change: Q255*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
30 |
123 |
N/A |
INTRINSIC |
|
coiled coil region
|
225 |
258 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159102
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which acts as an inhibitor of NFkappaB activation. The encoded protein is also involved in MAP/ERK signaling pathway in specific cell types. It may be involved in apoptosis of endothelial cells. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.[provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele have impaired IL-1 response and macrophage physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
T |
G |
13: 30,565,482 (GRCm39) |
F182L |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,986,126 (GRCm39) |
E2470G |
probably benign |
Het |
| Arhgap20 |
T |
C |
9: 51,755,020 (GRCm39) |
W418R |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,804,907 (GRCm39) |
D832G |
possibly damaging |
Het |
| Btbd2 |
A |
G |
10: 80,481,183 (GRCm39) |
F325L |
possibly damaging |
Het |
| Chrna10 |
A |
T |
7: 101,762,292 (GRCm39) |
|
probably null |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,377 (GRCm39) |
I188T |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,080,469 (GRCm39) |
C871R |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,896,511 (GRCm39) |
S4287P |
probably benign |
Het |
| Gm5519 |
A |
T |
19: 33,802,471 (GRCm39) |
*171C |
probably null |
Het |
| Gnat1 |
C |
A |
9: 107,554,623 (GRCm39) |
V81F |
probably benign |
Het |
| Gorab |
G |
A |
1: 163,214,138 (GRCm39) |
A264V |
probably damaging |
Het |
| Ift172 |
A |
T |
5: 31,441,501 (GRCm39) |
V211E |
probably benign |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Kif26b |
A |
C |
1: 178,743,743 (GRCm39) |
S1280R |
probably damaging |
Het |
| Lce3e |
C |
T |
3: 92,875,042 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
A |
G |
6: 94,260,177 (GRCm39) |
Y43H |
probably benign |
Het |
| Mon2 |
T |
A |
10: 122,858,825 (GRCm39) |
M829L |
possibly damaging |
Het |
| Nmd3 |
G |
A |
3: 69,636,680 (GRCm39) |
V96I |
probably benign |
Het |
| Ogfod1 |
T |
C |
8: 94,789,610 (GRCm39) |
M437T |
probably benign |
Het |
| Or4f54 |
A |
G |
2: 111,123,230 (GRCm39) |
I206V |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,216 (GRCm39) |
I44K |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,702 (GRCm39) |
T214A |
probably benign |
Het |
| Pabpc2 |
A |
G |
18: 39,907,445 (GRCm39) |
S237G |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,839,757 (GRCm39) |
D488E |
possibly damaging |
Het |
| Phldb2 |
C |
T |
16: 45,645,701 (GRCm39) |
M293I |
probably damaging |
Het |
| Poc1b |
G |
A |
10: 98,965,436 (GRCm39) |
E80K |
probably damaging |
Het |
| Prdm5 |
C |
A |
6: 65,860,578 (GRCm39) |
Q421K |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,604,989 (GRCm39) |
E479G |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,745,639 (GRCm39) |
S1239P |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,330,235 (GRCm39) |
V1052A |
possibly damaging |
Het |
| Satb2 |
G |
T |
1: 56,987,356 (GRCm39) |
D83E |
probably damaging |
Het |
| Sccpdh |
T |
C |
1: 179,498,165 (GRCm39) |
S70P |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,291,643 (GRCm39) |
F1701S |
probably damaging |
Het |
| Srsf9 |
A |
G |
5: 115,465,368 (GRCm39) |
M1V |
probably null |
Het |
| Stk32a |
T |
A |
18: 43,430,659 (GRCm39) |
|
probably null |
Het |
| Sult2a5 |
A |
C |
7: 13,396,462 (GRCm39) |
Y183S |
probably benign |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn1r26 |
A |
G |
6: 57,985,536 (GRCm39) |
W218R |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,916,659 (GRCm39) |
Y424C |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,291,763 (GRCm39) |
M1L |
probably damaging |
Het |
| Wnt3a |
A |
T |
11: 59,166,058 (GRCm39) |
I74N |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,641,415 (GRCm39) |
H80Q |
probably benign |
Het |
|
| Other mutations in Tnip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Tnip2
|
APN |
5 |
34,656,643 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01980:Tnip2
|
APN |
5 |
34,654,212 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02649:Tnip2
|
APN |
5 |
34,671,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03122:Tnip2
|
APN |
5 |
34,661,095 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4445001:Tnip2
|
UTSW |
5 |
34,654,215 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1713:Tnip2
|
UTSW |
5 |
34,661,175 (GRCm39) |
splice site |
probably benign |
|
|
R1782:Tnip2
|
UTSW |
5 |
34,657,012 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2183:Tnip2
|
UTSW |
5 |
34,656,957 (GRCm39) |
intron |
probably benign |
|
|
R2184:Tnip2
|
UTSW |
5 |
34,656,957 (GRCm39) |
intron |
probably benign |
|
|
R4417:Tnip2
|
UTSW |
5 |
34,660,925 (GRCm39) |
nonsense |
probably null |
|
|
R5216:Tnip2
|
UTSW |
5 |
34,661,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5254:Tnip2
|
UTSW |
5 |
34,660,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5287:Tnip2
|
UTSW |
5 |
34,671,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5403:Tnip2
|
UTSW |
5 |
34,671,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Tnip2
|
UTSW |
5 |
34,653,976 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6379:Tnip2
|
UTSW |
5 |
34,660,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7389:Tnip2
|
UTSW |
5 |
34,671,145 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8224:Tnip2
|
UTSW |
5 |
34,671,003 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9034:Tnip2
|
UTSW |
5 |
34,671,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9722:Tnip2
|
UTSW |
5 |
34,654,212 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGACCTCCACAGTTAAATACGG -3'
(R):5'- CCTCGGCTAAATGTCTGGTG -3'
Sequencing Primer
(F):5'- TACGGTACCACAGAGAGGTTCTC -3'
(R):5'- ACTGGGTGGGGTACAGTCAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation