Incidental Mutation 'IGL00896:Txndc15'
| ID |
28818 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Txndc15
|
| Ensembl Gene |
ENSMUSG00000021497 |
| Gene Name |
thioredoxin domain containing 15 |
| Synonyms |
2310047H23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL00896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
55862463-55874040 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55873488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 283
(A283T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021958]
[ENSMUST00000021959]
[ENSMUST00000124968]
|
| AlphaFold |
Q6P6J9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021958
|
| SMART Domains |
Protein: ENSMUSP00000021958
Gene: ENSMUSG00000021496
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:Pterin_4a
|
39 |
132 |
1.5e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021959
AA Change: A283T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021959
Gene: ENSMUSG00000021497
AA Change: A283T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
174 |
278 |
8.6e-11 |
PFAM |
|
transmembrane domain
|
305 |
324 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124968
|
| SMART Domains |
Protein: ENSMUSP00000115392
Gene: ENSMUSG00000021496
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pterin_4a
|
3 |
101 |
5.7e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223649
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
G |
12: 113,509,030 (GRCm39) |
T468A |
possibly damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,591,592 (GRCm39) |
E626G |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,850,777 (GRCm39) |
Y1812C |
possibly damaging |
Het |
| Aurkc |
T |
C |
7: 7,005,513 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,093,611 (GRCm39) |
T4352A |
probably benign |
Het |
| Cpb1 |
A |
G |
3: 20,306,193 (GRCm39) |
V329A |
probably benign |
Het |
| Cyp2d11 |
G |
T |
15: 82,275,275 (GRCm39) |
|
probably benign |
Het |
| Dnase1 |
G |
A |
16: 3,857,076 (GRCm39) |
S28N |
probably benign |
Het |
| Drgx |
C |
T |
14: 32,327,171 (GRCm39) |
|
probably benign |
Het |
| Evpl |
C |
A |
11: 116,113,410 (GRCm39) |
E1427* |
probably null |
Het |
| Gimap6 |
T |
C |
6: 48,679,394 (GRCm39) |
N214S |
probably benign |
Het |
| Htr1f |
A |
T |
16: 64,746,469 (GRCm39) |
H274Q |
probably benign |
Het |
| Ipo9 |
A |
T |
1: 135,327,797 (GRCm39) |
V538E |
probably damaging |
Het |
| Lmf2 |
T |
C |
15: 89,237,539 (GRCm39) |
K308E |
probably benign |
Het |
| Mog |
T |
A |
17: 37,328,377 (GRCm39) |
|
probably null |
Het |
| Myo19 |
T |
C |
11: 84,800,324 (GRCm39) |
V903A |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,876,885 (GRCm39) |
T179A |
unknown |
Het |
| Nckap1 |
C |
T |
2: 80,411,297 (GRCm39) |
V5M |
possibly damaging |
Het |
| Or1e23 |
T |
C |
11: 73,407,167 (GRCm39) |
N286S |
probably damaging |
Het |
| Or51l4 |
T |
C |
7: 103,404,213 (GRCm39) |
D193G |
probably damaging |
Het |
| Or9a2 |
A |
T |
6: 41,749,047 (GRCm39) |
L62Q |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,455,838 (GRCm39) |
|
probably null |
Het |
| Pcm1 |
C |
A |
8: 41,729,160 (GRCm39) |
Q711K |
possibly damaging |
Het |
| Pde6a |
A |
G |
18: 61,353,864 (GRCm39) |
D63G |
possibly damaging |
Het |
| Piezo1 |
T |
C |
8: 123,224,609 (GRCm39) |
M711V |
possibly damaging |
Het |
| Rev1 |
G |
A |
1: 38,138,021 (GRCm39) |
T88I |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,665,634 (GRCm39) |
|
probably null |
Het |
| Sult2a1 |
T |
A |
7: 13,566,565 (GRCm39) |
T137S |
probably benign |
Het |
| Zswim8 |
A |
G |
14: 20,766,069 (GRCm39) |
E785G |
probably damaging |
Het |
|
| Other mutations in Txndc15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01634:Txndc15
|
APN |
13 |
55,869,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4791001:Txndc15
|
UTSW |
13 |
55,869,507 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0309:Txndc15
|
UTSW |
13 |
55,872,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Txndc15
|
UTSW |
13 |
55,872,436 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1473:Txndc15
|
UTSW |
13 |
55,869,387 (GRCm39) |
splice site |
probably benign |
|
|
R1856:Txndc15
|
UTSW |
13 |
55,865,875 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4456:Txndc15
|
UTSW |
13 |
55,865,977 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4945:Txndc15
|
UTSW |
13 |
55,865,978 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5159:Txndc15
|
UTSW |
13 |
55,865,734 (GRCm39) |
missense |
probably benign |
|
|
R5376:Txndc15
|
UTSW |
13 |
55,866,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5776:Txndc15
|
UTSW |
13 |
55,865,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7365:Txndc15
|
UTSW |
13 |
55,862,601 (GRCm39) |
missense |
unknown |
|
|
R7392:Txndc15
|
UTSW |
13 |
55,869,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Txndc15
|
UTSW |
13 |
55,865,767 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7679:Txndc15
|
UTSW |
13 |
55,873,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9276:Txndc15
|
UTSW |
13 |
55,865,914 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9369:Txndc15
|
UTSW |
13 |
55,869,507 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Posted On |
2013-04-17 |
Incidental Mutation