Incidental Mutation 'R6626:Txndc16'
| ID |
526323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txndc16
|
| Ensembl Gene |
ENSMUSG00000021830 |
| Gene Name |
thioredoxin domain containing 16 |
| Synonyms |
5730420B22Rik |
| MMRRC Submission |
044748-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6626 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
45371905-45457008 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 45398792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022377]
[ENSMUST00000123879]
[ENSMUST00000139526]
|
| AlphaFold |
Q7TN22 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022377
|
| SMART Domains |
Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
| 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 null
Transcript: ENSMUST00000123879
|
| SMART Domains |
Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
| 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 null
Transcript: ENSMUST00000139526
|
| SMART Domains |
Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
| 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 benign
Transcript: ENSMUST00000156600
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
T |
C |
11: 3,888,056 (GRCm39) |
H110R |
unknown |
Het |
| Adgrv1 |
T |
A |
13: 81,666,245 (GRCm39) |
D1937V |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,465,207 (GRCm39) |
L19H |
probably damaging |
Het |
| Bcl9 |
C |
T |
3: 97,122,712 (GRCm39) |
R29H |
probably benign |
Het |
| Boc |
A |
T |
16: 44,340,803 (GRCm39) |
I49N |
possibly damaging |
Het |
| C8a |
T |
C |
4: 104,703,164 (GRCm39) |
I298V |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,022,703 (GRCm39) |
S879P |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,786,143 (GRCm39) |
|
probably benign |
Het |
| Dnm1 |
A |
G |
2: 32,230,892 (GRCm39) |
I63T |
probably damaging |
Het |
| Flnb |
C |
T |
14: 7,929,012 (GRCm38) |
R1914C |
probably damaging |
Het |
| Gm9493 |
A |
T |
19: 23,597,209 (GRCm39) |
K35M |
possibly damaging |
Het |
| Gpld1 |
T |
C |
13: 25,163,953 (GRCm39) |
S552P |
probably damaging |
Het |
| Hacd1 |
T |
A |
2: 14,031,755 (GRCm39) |
I243F |
probably benign |
Het |
| Klhdc4 |
A |
G |
8: 122,546,901 (GRCm39) |
V110A |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,220,528 (GRCm39) |
V441M |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,244,100 (GRCm39) |
Y2109C |
probably damaging |
Het |
| Ncbp3 |
T |
A |
11: 72,964,210 (GRCm39) |
S387T |
possibly damaging |
Het |
| Notch2 |
T |
G |
3: 98,008,921 (GRCm39) |
V513G |
probably damaging |
Het |
| Nt5c1b |
A |
T |
12: 10,424,837 (GRCm39) |
R128* |
probably null |
Het |
| Olig2 |
T |
C |
16: 91,024,044 (GRCm39) |
S253P |
unknown |
Het |
| Or6b1 |
A |
G |
6: 42,815,582 (GRCm39) |
M256V |
probably benign |
Het |
| Or8g17 |
A |
G |
9: 38,930,402 (GRCm39) |
V145A |
possibly damaging |
Het |
| Or8k53 |
C |
T |
2: 86,177,364 (GRCm39) |
V249I |
possibly damaging |
Het |
| Phkb |
T |
A |
8: 86,648,780 (GRCm39) |
F199I |
probably damaging |
Het |
| Rnf17 |
A |
G |
14: 56,665,381 (GRCm39) |
T178A |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Sfxn2 |
A |
T |
19: 46,570,967 (GRCm39) |
N9I |
possibly damaging |
Het |
| Slc16a4 |
G |
A |
3: 107,208,512 (GRCm39) |
A341T |
possibly damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,128,667 (GRCm39) |
F1448L |
probably benign |
Het |
| Tank |
T |
A |
2: 61,480,640 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
T |
1: 159,677,822 (GRCm39) |
Y69F |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,038,284 (GRCm39) |
D1518G |
probably damaging |
Het |
| Ugp2 |
A |
G |
11: 21,281,028 (GRCm39) |
Y227H |
probably damaging |
Het |
| Vps50 |
G |
A |
6: 3,551,101 (GRCm39) |
W388* |
probably null |
Het |
| Zfp516 |
T |
A |
18: 83,006,232 (GRCm39) |
D1045E |
probably damaging |
Het |
| Zscan10 |
C |
T |
17: 23,824,831 (GRCm39) |
P96S |
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 |
|
|
IGL02554:Txndc16
|
APN |
14 |
45,409,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAGTTTTCAGCCTCATGTGG -3'
(R):5'- TGAACTCAGGATCTTCGGAAG -3'
Sequencing Primer
(F):5'- CTGAGGATAAAACAGTCCTGAGTG -3'
(R):5'- TCTTCGGAAGAGCAGTCAGTACTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation