Incidental Mutation 'R6297:Txndc16'
| ID |
508857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txndc16
|
| Ensembl Gene |
ENSMUSG00000021830 |
| Gene Name |
thioredoxin domain containing 16 |
| Synonyms |
5730420B22Rik |
| MMRRC Submission |
044464-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6297 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
45371905-45457008 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45389243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 486
(T486A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022377]
[ENSMUST00000123879]
[ENSMUST00000139526]
|
| AlphaFold |
Q7TN22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022377
AA Change: T486A
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
AA Change: T486A
| 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: T486A
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
AA Change: T486A
| 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: ENSMUST00000139526
AA Change: T486A
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
AA Change: T486A
| 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 |
|
| Meta Mutation Damage Score |
0.1042 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,926,179 (GRCm39) |
V1205A |
probably benign |
Het |
| Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
| Ate1 |
A |
G |
7: 130,105,570 (GRCm39) |
V316A |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 153,986,180 (GRCm39) |
I102V |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,557,655 (GRCm39) |
|
probably null |
Het |
| Ccdc47 |
T |
C |
11: 106,094,427 (GRCm39) |
Y324C |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,985,564 (GRCm39) |
K341E |
possibly damaging |
Het |
| Cenpb |
A |
G |
2: 131,020,289 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
A |
G |
1: 87,853,866 (GRCm39) |
I570V |
possibly damaging |
Het |
| Dhx32 |
A |
T |
7: 133,344,529 (GRCm39) |
Y27N |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,852,144 (GRCm39) |
D1824G |
possibly damaging |
Het |
| Fbxo8 |
T |
A |
8: 57,022,323 (GRCm39) |
C112S |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,800,980 (GRCm39) |
D590G |
probably damaging |
Het |
| Gm19965 |
T |
A |
1: 116,750,410 (GRCm39) |
I697N |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,469,494 (GRCm39) |
D170N |
probably damaging |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Igfn1 |
A |
T |
1: 135,892,399 (GRCm39) |
|
probably null |
Het |
| Ighg2b |
T |
C |
12: 113,270,512 (GRCm39) |
E206G |
unknown |
Het |
| Ints15 |
A |
T |
5: 143,293,787 (GRCm39) |
L230Q |
possibly damaging |
Het |
| Lman2 |
T |
C |
13: 55,496,244 (GRCm39) |
N267S |
probably damaging |
Het |
| Lrfn5 |
A |
T |
12: 61,890,348 (GRCm39) |
I546F |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,459,964 (GRCm39) |
S197P |
probably damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,553,027 (GRCm39) |
Y793H |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,730,054 (GRCm39) |
R2799* |
probably null |
Het |
| Mup13 |
T |
A |
4: 61,181,634 (GRCm39) |
I148F |
probably benign |
Het |
| Or2aj5 |
A |
C |
16: 19,424,680 (GRCm39) |
V246G |
possibly damaging |
Het |
| Or5m10 |
A |
G |
2: 85,717,159 (GRCm39) |
N5S |
probably benign |
Het |
| Or8g53 |
A |
T |
9: 39,683,522 (GRCm39) |
D191E |
possibly damaging |
Het |
| Pdgfra |
A |
G |
5: 75,334,135 (GRCm39) |
K403E |
possibly damaging |
Het |
| Pigz |
A |
T |
16: 31,763,755 (GRCm39) |
Y271F |
probably damaging |
Het |
| Plekhg4 |
T |
C |
8: 106,104,472 (GRCm39) |
L517P |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,642,132 (GRCm39) |
L232P |
probably damaging |
Het |
| Rpa3 |
C |
A |
6: 8,256,767 (GRCm39) |
G71* |
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGTCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,287,584 (GRCm39) |
T623A |
probably benign |
Het |
| Sltm |
A |
G |
9: 70,488,641 (GRCm39) |
D597G |
probably damaging |
Het |
| Stpg2 |
T |
C |
3: 139,407,432 (GRCm39) |
V528A |
possibly damaging |
Het |
| Supt6 |
C |
T |
11: 78,116,885 (GRCm39) |
R589Q |
possibly damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,389,361 (GRCm39) |
M419K |
possibly damaging |
Het |
| Vamp9 |
A |
G |
5: 100,089,092 (GRCm39) |
Y119C |
probably damaging |
Het |
| Vmn1r185 |
A |
G |
7: 26,311,046 (GRCm39) |
V153A |
probably benign |
Het |
| Vmn2r48 |
T |
C |
7: 9,668,807 (GRCm39) |
N548D |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,895 (GRCm39) |
I378T |
possibly damaging |
Het |
| Wdr37 |
A |
G |
13: 8,892,764 (GRCm39) |
|
probably null |
Het |
| Xrn2 |
G |
A |
2: 146,868,490 (GRCm39) |
R181H |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCACTAACTGAAAGTGACAGAG -3'
(R):5'- TGCTGGGCACACACTTAAAG -3'
Sequencing Primer
(F):5'- CTGAAAGTGACAGAGCATGCACC -3'
(R):5'- CTGAAAGCAGCGAGTGTTCTG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation