Incidental Mutation 'IGL02953:Txnip'
| ID |
364996 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Txnip
|
| Ensembl Gene |
ENSMUSG00000038393 |
| Gene Name |
thioredoxin interacting protein |
| Synonyms |
mVDUP1, VDUP1, Hyplip1, THIF |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02953
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96465273-96469173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96465682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 44
(V44D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049093]
[ENSMUST00000074519]
|
| AlphaFold |
Q8BG60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049093
AA Change: V44D
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000041467
Gene: ENSMUSG00000038393
AA Change: V44D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
10 |
152 |
6.8e-26 |
PFAM |
|
Arrestin_C
|
174 |
301 |
6.4e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074519
AA Change: V44D
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102710
Gene: ENSMUSG00000038393
AA Change: V44D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
10 |
153 |
1.1e-25 |
PFAM |
|
Arrestin_C
|
175 |
302 |
6.4e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128221
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144639
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151832
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196871
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a thioredoxin-binding protein that is a member of the alpha arrestin protein family. Thioredoxin is a thiol-oxidoreductase that is a major regulator of cellular redox signaling which protects cells from oxidative stress. This protein inhibits the antioxidative function of thioredoxin resulting in the accumulation of reactive oxygen species and cellular stress. This protein also functions as a regulator of cellular metabolism and of endoplasmic reticulum (ER) stress. This protein may also function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice display impaired natural killer cell development and activity, hyperplasia of lymphoid tissue in the ileum, and increased T cell proliferation. Lipid metabolism and blood clotting were also affected by another null mutation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057N15Rik |
A |
G |
16: 88,570,534 (GRCm39) |
S169P |
possibly damaging |
Het |
| Adap2 |
G |
A |
11: 80,045,126 (GRCm39) |
G29R |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,877,447 (GRCm39) |
I431N |
probably damaging |
Het |
| Amer3 |
T |
C |
1: 34,626,877 (GRCm39) |
V372A |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,157 (GRCm39) |
V267D |
probably benign |
Het |
| Atp6v0b |
A |
T |
4: 117,742,419 (GRCm39) |
V111E |
probably damaging |
Het |
| Cep20 |
T |
C |
16: 14,122,339 (GRCm39) |
K142E |
probably benign |
Het |
| Clmp |
T |
A |
9: 40,685,683 (GRCm39) |
L193Q |
probably damaging |
Het |
| Dcaf7 |
T |
G |
11: 105,942,702 (GRCm39) |
Y216* |
probably null |
Het |
| Dcbld2 |
T |
A |
16: 58,272,100 (GRCm39) |
D385E |
probably benign |
Het |
| Des |
T |
A |
1: 75,340,288 (GRCm39) |
D398E |
possibly damaging |
Het |
| Fancm |
C |
T |
12: 65,168,740 (GRCm39) |
T1701I |
probably benign |
Het |
| Fat1 |
C |
A |
8: 45,477,351 (GRCm39) |
D2132E |
probably damaging |
Het |
| Fkbp14 |
T |
C |
6: 54,556,667 (GRCm39) |
K161R |
probably damaging |
Het |
| Fuca2 |
C |
T |
10: 13,383,173 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
T |
A |
19: 56,302,664 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Herc3 |
C |
T |
6: 58,834,718 (GRCm39) |
Q242* |
probably null |
Het |
| Igkv4-81 |
T |
C |
6: 68,967,981 (GRCm39) |
K40R |
probably benign |
Het |
| Irf5 |
C |
A |
6: 29,536,671 (GRCm39) |
H461N |
possibly damaging |
Het |
| Lypd11 |
C |
T |
7: 24,422,991 (GRCm39) |
C109Y |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,198,171 (GRCm39) |
V1267M |
probably damaging |
Het |
| Nlk |
A |
G |
11: 78,517,527 (GRCm39) |
V155A |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,878,241 (GRCm39) |
H303Y |
possibly damaging |
Het |
| Pld1 |
A |
C |
3: 28,166,396 (GRCm39) |
M812L |
probably benign |
Het |
| Rab11fip3 |
C |
A |
17: 26,286,653 (GRCm39) |
R500L |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,602,194 (GRCm39) |
E389K |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,082,748 (GRCm39) |
R174C |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,713,329 (GRCm39) |
R405G |
possibly damaging |
Het |
| Srpx |
A |
T |
X: 9,983,706 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,914,337 (GRCm39) |
|
probably benign |
Het |
| Tcerg1 |
C |
T |
18: 42,681,535 (GRCm39) |
P561S |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,205,634 (GRCm39) |
N757K |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,752,774 (GRCm39) |
L1782F |
probably damaging |
Het |
| Tut1 |
G |
T |
19: 8,940,056 (GRCm39) |
V347L |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,579,857 (GRCm39) |
T369I |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,746,224 (GRCm39) |
N842S |
probably benign |
Het |
|
| Other mutations in Txnip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02297:Txnip
|
APN |
3 |
96,465,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03066:Txnip
|
APN |
3 |
96,466,934 (GRCm39) |
missense |
probably damaging |
0.97 |
|
P0029:Txnip
|
UTSW |
3 |
96,467,679 (GRCm39) |
splice site |
probably null |
|
|
R0336:Txnip
|
UTSW |
3 |
96,467,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1604:Txnip
|
UTSW |
3 |
96,466,277 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1988:Txnip
|
UTSW |
3 |
96,467,066 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4603:Txnip
|
UTSW |
3 |
96,465,604 (GRCm39) |
missense |
probably benign |
|
|
R4659:Txnip
|
UTSW |
3 |
96,466,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4845:Txnip
|
UTSW |
3 |
96,466,916 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6787:Txnip
|
UTSW |
3 |
96,467,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6992:Txnip
|
UTSW |
3 |
96,466,439 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7241:Txnip
|
UTSW |
3 |
96,466,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7488:Txnip
|
UTSW |
3 |
96,467,539 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7663:Txnip
|
UTSW |
3 |
96,467,153 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8151:Txnip
|
UTSW |
3 |
96,466,929 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8669:Txnip
|
UTSW |
3 |
96,466,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9582:Txnip
|
UTSW |
3 |
96,465,659 (GRCm39) |
nonsense |
probably null |
|
|
X0050:Txnip
|
UTSW |
3 |
96,467,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0057:Txnip
|
UTSW |
3 |
96,466,281 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation