Incidental Mutation 'R3811:Txndc5'
| ID |
275206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txndc5
|
| Ensembl Gene |
ENSMUSG00000038991 |
| Gene Name |
thioredoxin domain containing 5 |
| Synonyms |
ERp46, PC-TRP |
| MMRRC Submission |
040767-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3811 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
38684242-38712800 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38707381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 99
(K99E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035988]
[ENSMUST00000160653]
[ENSMUST00000162075]
|
| AlphaFold |
Q91W90 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035988
AA Change: K99E
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041839
Gene: ENSMUSG00000038991
AA Change: K99E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
49 |
153 |
5.3e-28 |
PFAM |
|
low complexity region
|
156 |
172 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
176 |
279 |
2.8e-30 |
PFAM |
|
Pfam:Thioredoxin
|
308 |
412 |
6.2e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160653
AA Change: K26E
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124401
Gene: ENSMUSG00000038991
AA Change: K26E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
1 |
80 |
6.3e-22 |
PFAM |
|
low complexity region
|
83 |
99 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
103 |
206 |
4.2e-31 |
PFAM |
|
Pfam:Thioredoxin
|
235 |
339 |
3.9e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162075
AA Change: K5E
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124516
Gene: ENSMUSG00000038991
AA Change: K5E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
1 |
59 |
1.5e-13 |
PFAM |
|
low complexity region
|
62 |
78 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
82 |
185 |
5e-31 |
PFAM |
|
Pfam:Thioredoxin
|
214 |
318 |
4.6e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224471
|
| Meta Mutation Damage Score |
0.0896 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal endoplasmic reticulum (ER)-signal sequence, three catalytically active thioredoxin domains and a C-terminal ER-retention sequence. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S5 gene. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
G |
T |
6: 34,776,664 (GRCm39) |
S385I |
probably damaging |
Het |
| Arhgap28 |
G |
A |
17: 68,203,088 (GRCm39) |
P122S |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,186,967 (GRCm39) |
V73A |
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| Cacybp |
T |
C |
1: 160,031,222 (GRCm39) |
D202G |
probably benign |
Het |
| Chsy3 |
C |
G |
18: 59,309,242 (GRCm39) |
P165R |
probably benign |
Het |
| Creb3 |
C |
T |
4: 43,565,501 (GRCm39) |
Q227* |
probably null |
Het |
| Crnkl1 |
C |
A |
2: 145,773,226 (GRCm39) |
R140L |
probably damaging |
Het |
| Cyth4 |
A |
G |
15: 78,488,849 (GRCm39) |
E39G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,168,481 (GRCm39) |
T481A |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,829,123 (GRCm39) |
I1003N |
possibly damaging |
Het |
| Galntl5 |
T |
C |
5: 25,391,178 (GRCm39) |
F26L |
probably benign |
Het |
| Glrx5 |
C |
G |
12: 104,999,147 (GRCm39) |
C63W |
probably damaging |
Het |
| Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,006,101 (GRCm39) |
T900A |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,525,328 (GRCm39) |
|
probably null |
Het |
| Ighv1-24 |
G |
T |
12: 114,736,685 (GRCm39) |
L72I |
probably benign |
Het |
| Ilvbl |
G |
A |
10: 78,414,869 (GRCm39) |
C244Y |
probably benign |
Het |
| Kat7 |
A |
G |
11: 95,182,441 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,138,454 (GRCm39) |
|
probably null |
Het |
| Mall |
T |
A |
2: 127,550,774 (GRCm39) |
I129F |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,693,506 (GRCm39) |
K1044* |
probably null |
Het |
| Med23 |
A |
T |
10: 24,768,490 (GRCm39) |
R77* |
probably null |
Het |
| Med23 |
G |
A |
10: 24,768,491 (GRCm39) |
|
probably null |
Het |
| Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
| Or8k28 |
A |
T |
2: 86,285,691 (GRCm39) |
V308E |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,060,437 (GRCm39) |
V828D |
probably damaging |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Rbbp5 |
T |
C |
1: 132,420,325 (GRCm39) |
V59A |
probably damaging |
Het |
| Sco2 |
T |
C |
15: 89,257,882 (GRCm39) |
|
probably benign |
Het |
| Slc32a1 |
G |
T |
2: 158,456,656 (GRCm39) |
C437F |
possibly damaging |
Het |
| Spem2 |
T |
C |
11: 69,707,990 (GRCm39) |
E325G |
possibly damaging |
Het |
| Steap4 |
A |
G |
5: 8,027,017 (GRCm39) |
T327A |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,848,011 (GRCm39) |
D70G |
probably benign |
Het |
|
| Other mutations in Txndc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0164:Txndc5
|
UTSW |
13 |
38,691,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0164:Txndc5
|
UTSW |
13 |
38,691,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0691:Txndc5
|
UTSW |
13 |
38,691,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0741:Txndc5
|
UTSW |
13 |
38,712,236 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3810:Txndc5
|
UTSW |
13 |
38,707,381 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3812:Txndc5
|
UTSW |
13 |
38,707,381 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5009:Txndc5
|
UTSW |
13 |
38,712,160 (GRCm39) |
splice site |
probably null |
|
|
R5472:Txndc5
|
UTSW |
13 |
38,697,101 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6089:Txndc5
|
UTSW |
13 |
38,707,392 (GRCm39) |
start codon destroyed |
probably null |
0.70 |
|
R6292:Txndc5
|
UTSW |
13 |
38,712,160 (GRCm39) |
splice site |
probably null |
|
|
R6443:Txndc5
|
UTSW |
13 |
38,712,179 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8442:Txndc5
|
UTSW |
13 |
38,711,845 (GRCm39) |
intron |
probably benign |
|
|
X0067:Txndc5
|
UTSW |
13 |
38,707,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACATTCAGCGCCTGGGATC -3'
(R):5'- AGAACAGTGTCGTTGTGAGGTATC -3'
Sequencing Primer
(F):5'- CCTGGGATCTAGGAAGGAAGTTACC -3'
(R):5'- AGGTATCTGTCTGCTGCAGAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation