Incidental Mutation 'R6876:Txndc16'
| ID |
536433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txndc16
|
| Ensembl Gene |
ENSMUSG00000021830 |
| Gene Name |
thioredoxin domain containing 16 |
| Synonyms |
5730420B22Rik |
| MMRRC Submission |
044972-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6876 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
45371905-45457008 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45400497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 335
(F335L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022377]
[ENSMUST00000123879]
[ENSMUST00000139526]
[ENSMUST00000147853]
|
| AlphaFold |
Q7TN22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022377
AA Change: F335L
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
AA Change: F335L
| 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 |
possibly damaging
Transcript: ENSMUST00000123879
AA Change: F335L
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
AA Change: F335L
| 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: F335L
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
AA Change: F335L
| 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: ENSMUST00000147853
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156600
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
C |
5: 77,044,288 (GRCm39) |
T201A |
probably damaging |
Het |
| Abca12 |
T |
A |
1: 71,302,667 (GRCm39) |
D2184V |
probably damaging |
Het |
| Abcf1 |
C |
T |
17: 36,270,136 (GRCm39) |
D641N |
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,303,273 (GRCm39) |
|
probably null |
Het |
| Aftph |
T |
C |
11: 20,659,744 (GRCm39) |
E693G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,991,484 (GRCm39) |
D4256G |
probably damaging |
Het |
| Arv1 |
A |
G |
8: 125,457,651 (GRCm39) |
K185R |
probably damaging |
Het |
| Ces4a |
T |
A |
8: 105,871,624 (GRCm39) |
V258D |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,814,506 (GRCm39) |
D502G |
unknown |
Het |
| Diaph1 |
A |
T |
18: 38,029,426 (GRCm39) |
H335Q |
unknown |
Het |
| Dtna |
G |
A |
18: 23,744,167 (GRCm39) |
V404I |
probably benign |
Het |
| Ephb1 |
T |
C |
9: 101,861,319 (GRCm39) |
D615G |
probably damaging |
Het |
| Gimap3 |
A |
T |
6: 48,742,855 (GRCm39) |
I25N |
probably damaging |
Het |
| Hao1 |
A |
G |
2: 134,343,069 (GRCm39) |
V274A |
probably benign |
Het |
| Hirip3 |
T |
C |
7: 126,463,321 (GRCm39) |
S426P |
probably damaging |
Het |
| Igkv4-69 |
T |
C |
6: 69,260,818 (GRCm39) |
D103G |
probably damaging |
Het |
| Kdm8 |
T |
C |
7: 125,051,830 (GRCm39) |
V141A |
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,498,261 (GRCm39) |
A553S |
probably benign |
Het |
| Mpl |
T |
A |
4: 118,314,317 (GRCm39) |
Y60F |
probably damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myo5a |
C |
A |
9: 75,067,772 (GRCm39) |
R609S |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,841,026 (GRCm39) |
H969L |
probably benign |
Het |
| Or1n2 |
T |
A |
2: 36,797,834 (GRCm39) |
I292N |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,098 (GRCm39) |
Q259E |
probably damaging |
Het |
| Or2y16 |
T |
C |
11: 49,335,068 (GRCm39) |
L130P |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
T |
A |
7: 30,205,925 (GRCm39) |
W207R |
probably damaging |
Het |
| Qng1 |
T |
C |
13: 58,532,910 (GRCm39) |
D20G |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,596,087 (GRCm39) |
K457E |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,859,791 (GRCm39) |
E551G |
possibly damaging |
Het |
| Soat2 |
T |
C |
15: 102,069,049 (GRCm39) |
F358S |
probably damaging |
Het |
| Tes3-ps |
A |
G |
13: 49,647,195 (GRCm39) |
K24E |
probably benign |
Het |
| Unc45b |
T |
C |
11: 82,813,738 (GRCm39) |
Y382H |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,087 (GRCm39) |
T100A |
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,450 (GRCm39) |
H369Q |
probably benign |
Het |
| Yy1 |
A |
G |
12: 108,772,518 (GRCm39) |
I265V |
probably benign |
Het |
| Zfp54 |
A |
T |
17: 21,654,239 (GRCm39) |
K244N |
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 |
|
R6626:Txndc16
|
UTSW |
14 |
45,398,792 (GRCm39) |
splice site |
probably null |
|
|
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'- GAGAAAGCAGCCTGACATCTG -3'
(R):5'- GGCTACTTGTAAGTAAATACGGGG -3'
Sequencing Primer
(F):5'- AGCCTGACATCTGCTCACC -3'
(R):5'- TAAATACGGGGTACTGCTTAGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation