Incidental Mutation 'IGL02554:Txndc16'
| ID |
298424 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Txndc16
|
| Ensembl Gene |
ENSMUSG00000021830 |
| Gene Name |
thioredoxin domain containing 16 |
| Synonyms |
5730420B22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL02554
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
45371905-45457008 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45409995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 195
(E195G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022377]
[ENSMUST00000123879]
[ENSMUST00000128484]
[ENSMUST00000139526]
[ENSMUST00000147853]
|
| AlphaFold |
Q7TN22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022377
AA Change: E195G
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
AA Change: E195G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
367 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
394 |
496 |
1.9e-12 |
PFAM |
|
Pfam:Thioredoxin_6
|
534 |
723 |
2.3e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123879
AA Change: E195G
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
AA Change: E195G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
367 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
394 |
496 |
1.9e-12 |
PFAM |
|
Pfam:Thioredoxin_6
|
534 |
723 |
2.3e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128484
AA Change: E195G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139526
AA Change: E195G
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
AA Change: E195G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
367 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
394 |
496 |
1e-12 |
PFAM |
|
Pfam:Thioredoxin_6
|
534 |
723 |
7.3e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147853
AA Change: E195G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156600
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
A |
11: 48,838,830 (GRCm39) |
M586L |
probably damaging |
Het |
| Abcg3 |
T |
C |
5: 105,117,318 (GRCm39) |
D204G |
possibly damaging |
Het |
| Acox3 |
C |
A |
5: 35,765,710 (GRCm39) |
L588I |
probably damaging |
Het |
| Adamts9 |
G |
T |
6: 92,857,828 (GRCm39) |
L849I |
probably benign |
Het |
| Alkbh3 |
T |
G |
2: 93,826,692 (GRCm39) |
T170P |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 90,757,240 (GRCm39) |
H300L |
probably damaging |
Het |
| Arhgap29 |
T |
C |
3: 121,786,173 (GRCm39) |
|
probably benign |
Het |
| Brd8dc |
A |
G |
18: 34,726,068 (GRCm39) |
S112P |
probably benign |
Het |
| Cd86 |
C |
T |
16: 36,438,847 (GRCm39) |
G181D |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,190,096 (GRCm39) |
H305Q |
possibly damaging |
Het |
| Cimip4 |
A |
G |
15: 78,262,736 (GRCm39) |
M245T |
possibly damaging |
Het |
| Clptm1l |
A |
T |
13: 73,755,879 (GRCm39) |
D165V |
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,159,704 (GRCm39) |
Y61H |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,657,205 (GRCm39) |
M857K |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,407 (GRCm39) |
M836V |
probably benign |
Het |
| Gria1 |
G |
T |
11: 57,180,314 (GRCm39) |
A755S |
possibly damaging |
Het |
| Helb |
G |
A |
10: 119,925,617 (GRCm39) |
T920M |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,797,306 (GRCm39) |
|
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,864,994 (GRCm39) |
S152P |
probably damaging |
Het |
| Iqsec1 |
T |
C |
6: 90,646,327 (GRCm39) |
Y784C |
probably damaging |
Het |
| Ldah |
T |
A |
12: 8,333,935 (GRCm39) |
C275* |
probably null |
Het |
| Lpin3 |
T |
C |
2: 160,738,707 (GRCm39) |
S220P |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,774,473 (GRCm39) |
|
probably null |
Het |
| Mllt1 |
T |
C |
17: 57,206,806 (GRCm39) |
D346G |
probably benign |
Het |
| Myef2 |
A |
C |
2: 124,942,345 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,079,991 (GRCm39) |
S1095G |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,512,651 (GRCm39) |
|
silent |
Het |
| Or10a3m |
A |
G |
7: 108,312,949 (GRCm39) |
M118V |
possibly damaging |
Het |
| Piwil2 |
G |
A |
14: 70,628,935 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,441,896 (GRCm39) |
F3612I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| S100pbp |
A |
T |
4: 129,075,644 (GRCm39) |
|
probably null |
Het |
| Scnn1b |
T |
C |
7: 121,516,746 (GRCm39) |
I495T |
probably damaging |
Het |
| Sgo2b |
A |
C |
8: 64,379,571 (GRCm39) |
V1087G |
probably damaging |
Het |
| Sil1 |
A |
T |
18: 35,481,786 (GRCm39) |
V91E |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,946,685 (GRCm39) |
I29T |
possibly damaging |
Het |
| Spink5 |
A |
T |
18: 44,148,661 (GRCm39) |
N908I |
probably benign |
Het |
| Svopl |
A |
C |
6: 37,993,978 (GRCm39) |
I351S |
probably damaging |
Het |
| Syngr3 |
A |
G |
17: 24,905,302 (GRCm39) |
V198A |
probably benign |
Het |
| Tbck |
C |
A |
3: 132,456,953 (GRCm39) |
Y622* |
probably null |
Het |
| Tkt |
T |
A |
14: 30,280,737 (GRCm39) |
M56K |
probably damaging |
Het |
| Trip10 |
T |
C |
17: 57,570,135 (GRCm39) |
V544A |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,059,014 (GRCm39) |
P516S |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,581 (GRCm39) |
N255S |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,827,545 (GRCm39) |
T884A |
probably benign |
Het |
| Zdhhc2 |
A |
G |
8: 40,915,155 (GRCm39) |
N167S |
probably damaging |
Het |
|
| Other mutations in Txndc16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Txndc16
|
APN |
14 |
45,399,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00427:Txndc16
|
APN |
14 |
45,382,547 (GRCm39) |
splice site |
probably benign |
|
|
IGL02666:Txndc16
|
APN |
14 |
45,448,607 (GRCm39) |
splice site |
probably benign |
|
|
IGL02707:Txndc16
|
APN |
14 |
45,399,730 (GRCm39) |
missense |
probably benign |
|
|
IGL03198:Txndc16
|
APN |
14 |
45,388,941 (GRCm39) |
splice site |
probably benign |
|
|
IGL03256:Txndc16
|
APN |
14 |
45,389,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0647:Txndc16
|
UTSW |
14 |
45,402,818 (GRCm39) |
nonsense |
probably null |
|
|
R0647:Txndc16
|
UTSW |
14 |
45,406,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0838:Txndc16
|
UTSW |
14 |
45,402,876 (GRCm39) |
splice site |
probably benign |
|
|
R1035:Txndc16
|
UTSW |
14 |
45,410,020 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1116:Txndc16
|
UTSW |
14 |
45,400,442 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1511:Txndc16
|
UTSW |
14 |
45,389,344 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2114:Txndc16
|
UTSW |
14 |
45,382,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2139:Txndc16
|
UTSW |
14 |
45,410,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3784:Txndc16
|
UTSW |
14 |
45,403,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Txndc16
|
UTSW |
14 |
45,388,809 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5215:Txndc16
|
UTSW |
14 |
45,448,597 (GRCm39) |
intron |
probably benign |
|
|
R5620:Txndc16
|
UTSW |
14 |
45,373,335 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5726:Txndc16
|
UTSW |
14 |
45,403,221 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6297:Txndc16
|
UTSW |
14 |
45,389,243 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6603:Txndc16
|
UTSW |
14 |
45,389,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6626:Txndc16
|
UTSW |
14 |
45,398,792 (GRCm39) |
splice site |
probably null |
|
|
R6876:Txndc16
|
UTSW |
14 |
45,400,497 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7102:Txndc16
|
UTSW |
14 |
45,442,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7166:Txndc16
|
UTSW |
14 |
45,420,611 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7465:Txndc16
|
UTSW |
14 |
45,402,845 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7670:Txndc16
|
UTSW |
14 |
45,373,324 (GRCm39) |
nonsense |
probably null |
|
|
R7684:Txndc16
|
UTSW |
14 |
45,385,325 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7783:Txndc16
|
UTSW |
14 |
45,382,417 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8316:Txndc16
|
UTSW |
14 |
45,448,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Txndc16
|
UTSW |
14 |
45,378,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8926:Txndc16
|
UTSW |
14 |
45,406,771 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9169:Txndc16
|
UTSW |
14 |
45,373,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9327:Txndc16
|
UTSW |
14 |
45,379,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9489:Txndc16
|
UTSW |
14 |
45,442,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Txndc16
|
UTSW |
14 |
45,406,798 (GRCm39) |
missense |
probably null |
0.00 |
|
R9605:Txndc16
|
UTSW |
14 |
45,442,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Txndc16
|
UTSW |
14 |
45,400,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9710:Txndc16
|
UTSW |
14 |
45,400,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF013:Txndc16
|
UTSW |
14 |
45,406,795 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Posted On |
2015-04-16 |
Incidental Mutation