Incidental Mutation 'IGL00563:Txndc11'
| ID |
277784 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Txndc11
|
| Ensembl Gene |
ENSMUSG00000022498 |
| Gene Name |
thioredoxin domain containing 11 |
| Synonyms |
2810408E11Rik, EF-hand binding protein 1, EFP1, Txdc11 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL00563
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
10892775-10952514 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10922496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 239
(S239G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038424]
[ENSMUST00000118362]
[ENSMUST00000145225]
[ENSMUST00000147884]
[ENSMUST00000155221]
|
| AlphaFold |
Q8K2W3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038424
AA Change: S239G
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000041113
Gene: ENSMUSG00000022498
AA Change: S239G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
107 |
208 |
5.8e-11 |
PFAM |
|
Pfam:Thioredoxin
|
660 |
756 |
1e-11 |
PFAM |
|
coiled coil region
|
793 |
830 |
N/A |
INTRINSIC |
|
low complexity region
|
927 |
936 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118362
AA Change: S239G
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113432
Gene: ENSMUSG00000022498
AA Change: S239G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
107 |
208 |
2.5e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131012
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145225
AA Change: S239G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116563
Gene: ENSMUSG00000022498
AA Change: S239G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
107 |
208 |
5.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147884
|
| SMART Domains |
Protein: ENSMUSP00000117426
Gene: ENSMUSG00000022498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155221
|
| SMART Domains |
Protein: ENSMUSP00000114777
Gene: ENSMUSG00000022498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
T |
C |
5: 25,202,619 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,222,596 (GRCm39) |
|
probably benign |
Het |
| AU016765 |
C |
A |
17: 64,826,877 (GRCm39) |
|
noncoding transcript |
Het |
| Clstn2 |
A |
G |
9: 97,464,505 (GRCm39) |
|
probably benign |
Het |
| Crip1 |
T |
A |
12: 113,117,232 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,172,603 (GRCm39) |
N285S |
possibly damaging |
Het |
| Fktn |
A |
T |
4: 53,747,007 (GRCm39) |
|
probably null |
Het |
| Fndc3a |
C |
A |
14: 72,796,797 (GRCm39) |
|
probably benign |
Het |
| Focad |
T |
A |
4: 88,267,046 (GRCm39) |
M1019K |
unknown |
Het |
| Fuca2 |
A |
T |
10: 13,381,651 (GRCm39) |
D188V |
probably damaging |
Het |
| Gzmk |
C |
T |
13: 113,309,658 (GRCm39) |
V92I |
probably benign |
Het |
| Mprip |
C |
T |
11: 59,643,443 (GRCm39) |
R520W |
probably damaging |
Het |
| Mrpl19 |
A |
G |
6: 81,942,853 (GRCm39) |
V19A |
probably benign |
Het |
| Ndufb3 |
T |
A |
1: 58,634,958 (GRCm39) |
H103Q |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,382,779 (GRCm39) |
V1675A |
possibly damaging |
Het |
| Saxo1 |
C |
T |
4: 86,363,809 (GRCm39) |
E225K |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,540,268 (GRCm39) |
S383P |
probably damaging |
Het |
| Slc22a29 |
T |
A |
19: 8,138,993 (GRCm39) |
T490S |
probably benign |
Het |
| Smc6 |
T |
A |
12: 11,351,532 (GRCm39) |
S854T |
probably benign |
Het |
| Smim23 |
T |
C |
11: 32,771,893 (GRCm39) |
T58A |
probably benign |
Het |
| Tas2r134 |
T |
C |
2: 51,518,100 (GRCm39) |
I193T |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,379,658 (GRCm39) |
|
probably null |
Het |
| Trav13n-4 |
T |
G |
14: 53,601,423 (GRCm39) |
V64G |
possibly damaging |
Het |
| Trmt10a |
G |
A |
3: 137,853,177 (GRCm39) |
E13K |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,804,077 (GRCm39) |
N442K |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,712,078 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
G |
1: 175,526,366 (GRCm39) |
D5G |
probably benign |
Het |
|
| Other mutations in Txndc11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00562:Txndc11
|
APN |
16 |
10,922,496 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02576:Txndc11
|
APN |
16 |
10,892,881 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03070:Txndc11
|
APN |
16 |
10,893,151 (GRCm39) |
missense |
probably damaging |
0.97 |
|
P0047:Txndc11
|
UTSW |
16 |
10,909,661 (GRCm39) |
splice site |
probably benign |
|
|
R0091:Txndc11
|
UTSW |
16 |
10,905,968 (GRCm39) |
missense |
probably benign |
|
|
R0448:Txndc11
|
UTSW |
16 |
10,909,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0796:Txndc11
|
UTSW |
16 |
10,952,338 (GRCm39) |
small deletion |
probably benign |
|
|
R0960:Txndc11
|
UTSW |
16 |
10,909,453 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1184:Txndc11
|
UTSW |
16 |
10,946,364 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1327:Txndc11
|
UTSW |
16 |
10,934,678 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1441:Txndc11
|
UTSW |
16 |
10,952,414 (GRCm39) |
start gained |
probably benign |
|
|
R1515:Txndc11
|
UTSW |
16 |
10,892,926 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1699:Txndc11
|
UTSW |
16 |
10,905,639 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1709:Txndc11
|
UTSW |
16 |
10,946,565 (GRCm39) |
nonsense |
probably null |
|
|
R1850:Txndc11
|
UTSW |
16 |
10,906,268 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2026:Txndc11
|
UTSW |
16 |
10,952,338 (GRCm39) |
small deletion |
probably benign |
|
|
R3433:Txndc11
|
UTSW |
16 |
10,906,052 (GRCm39) |
missense |
probably benign |
|
|
R4468:Txndc11
|
UTSW |
16 |
10,893,087 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4469:Txndc11
|
UTSW |
16 |
10,893,087 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4652:Txndc11
|
UTSW |
16 |
10,892,986 (GRCm39) |
missense |
probably benign |
|
|
R4675:Txndc11
|
UTSW |
16 |
10,902,745 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4697:Txndc11
|
UTSW |
16 |
10,902,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4907:Txndc11
|
UTSW |
16 |
10,906,398 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5205:Txndc11
|
UTSW |
16 |
10,946,529 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5273:Txndc11
|
UTSW |
16 |
10,946,487 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5865:Txndc11
|
UTSW |
16 |
10,940,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5873:Txndc11
|
UTSW |
16 |
10,893,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5941:Txndc11
|
UTSW |
16 |
10,892,935 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6360:Txndc11
|
UTSW |
16 |
10,902,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6894:Txndc11
|
UTSW |
16 |
10,906,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7285:Txndc11
|
UTSW |
16 |
10,902,163 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7334:Txndc11
|
UTSW |
16 |
10,946,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7502:Txndc11
|
UTSW |
16 |
10,905,742 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7660:Txndc11
|
UTSW |
16 |
10,905,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7677:Txndc11
|
UTSW |
16 |
10,952,338 (GRCm39) |
small deletion |
probably benign |
|
|
R7683:Txndc11
|
UTSW |
16 |
10,902,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8315:Txndc11
|
UTSW |
16 |
10,893,465 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9395:Txndc11
|
UTSW |
16 |
10,902,683 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9406:Txndc11
|
UTSW |
16 |
10,893,498 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9494:Txndc11
|
UTSW |
16 |
10,952,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Txndc11
|
UTSW |
16 |
10,902,082 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Posted On |
2015-04-16 |
Incidental Mutation