Incidental Mutation 'R7465:Txndc16'
| ID |
578724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txndc16
|
| Ensembl Gene |
ENSMUSG00000021830 |
| Gene Name |
thioredoxin domain containing 16 |
| Synonyms |
5730420B22Rik |
| MMRRC Submission |
045539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R7465 (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 A
at 45402845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 316
(I316F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022377]
[ENSMUST00000123879]
[ENSMUST00000128484]
[ENSMUST00000139526]
[ENSMUST00000147853]
|
| AlphaFold |
Q7TN22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022377
AA Change: I316F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022377
Gene: ENSMUSG00000021830
AA Change: I316F
| 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: ENSMUST00000123879
AA Change: I316F
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123023
Gene: ENSMUSG00000021830
AA Change: I316F
| 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: ENSMUST00000128484
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139526
AA Change: I316F
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120287
Gene: ENSMUSG00000021830
AA Change: I316F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
T |
13: 30,565,964 (GRCm39) |
D343V |
probably benign |
Het |
| Anks1 |
G |
A |
17: 28,273,297 (GRCm39) |
R972Q |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,599,763 (GRCm39) |
K543E |
probably benign |
Het |
| Atp8b5 |
G |
A |
4: 43,271,269 (GRCm39) |
V4I |
probably benign |
Het |
| Bcar3 |
A |
T |
3: 122,316,879 (GRCm39) |
N617Y |
probably benign |
Het |
| Blm |
A |
G |
7: 80,162,863 (GRCm39) |
S163P |
probably benign |
Het |
| Cbx3 |
A |
G |
6: 51,455,510 (GRCm39) |
D87G |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,917,593 (GRCm39) |
S127P |
probably benign |
Het |
| Cndp1 |
A |
T |
18: 84,637,666 (GRCm39) |
M356K |
probably damaging |
Het |
| Cnn2 |
G |
A |
10: 79,828,361 (GRCm39) |
E113K |
probably damaging |
Het |
| Col17a1 |
T |
A |
19: 47,656,544 (GRCm39) |
R573* |
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,501,991 (GRCm39) |
E49V |
probably damaging |
Het |
| Dipk1a |
T |
C |
5: 108,057,550 (GRCm39) |
D336G |
probably damaging |
Het |
| Dynlrb2 |
T |
A |
8: 117,241,696 (GRCm39) |
V80E |
possibly damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,088,001 (GRCm39) |
V386A |
probably benign |
Het |
| Elfn1 |
C |
T |
5: 139,957,842 (GRCm39) |
P282L |
probably benign |
Het |
| Fan1 |
G |
A |
7: 64,003,386 (GRCm39) |
T812I |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,497,189 (GRCm39) |
V4225I |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,833,072 (GRCm39) |
C1873R |
probably benign |
Het |
| Fsd1l |
T |
C |
4: 53,647,755 (GRCm39) |
I66T |
probably benign |
Het |
| Gabrr1 |
C |
A |
4: 33,146,970 (GRCm39) |
D52E |
probably benign |
Het |
| Il18rap |
T |
C |
1: 40,582,249 (GRCm39) |
L390P |
probably damaging |
Het |
| Il27ra |
T |
A |
8: 84,766,241 (GRCm39) |
D181V |
probably benign |
Het |
| Irgq |
C |
A |
7: 24,233,834 (GRCm39) |
H558Q |
probably damaging |
Het |
| Itsn2 |
C |
T |
12: 4,756,983 (GRCm39) |
Q1358* |
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,507,847 (GRCm39) |
G3197S |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,651,543 (GRCm39) |
Y1733C |
probably damaging |
Het |
| Mapk7 |
G |
A |
11: 61,381,279 (GRCm39) |
A510V |
probably damaging |
Het |
| Mtch1 |
A |
T |
17: 29,551,698 (GRCm39) |
C385S |
probably benign |
Het |
| Nfib |
A |
G |
4: 82,271,758 (GRCm39) |
|
probably null |
Het |
| Nostrin |
C |
T |
2: 69,015,851 (GRCm39) |
T448M |
possibly damaging |
Het |
| Or12j4 |
T |
A |
7: 140,046,711 (GRCm39) |
V199D |
probably damaging |
Het |
| Or4c12b |
T |
C |
2: 89,646,880 (GRCm39) |
L64P |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,124 (GRCm39) |
Y272H |
probably benign |
Het |
| Or5a3 |
T |
A |
19: 12,400,509 (GRCm39) |
Y279N |
probably damaging |
Het |
| Or5an10 |
T |
C |
19: 12,275,801 (GRCm39) |
I232V |
probably benign |
Het |
| Or8k28 |
A |
G |
2: 86,286,150 (GRCm39) |
V155A |
probably benign |
Het |
| Pcdha2 |
T |
C |
18: 37,073,383 (GRCm39) |
V338A |
probably damaging |
Het |
| Pcdhgc3 |
A |
G |
18: 37,940,798 (GRCm39) |
T400A |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,145,794 (GRCm39) |
S2710N |
probably benign |
Het |
| Ppp4r1 |
T |
A |
17: 66,138,015 (GRCm39) |
Y591* |
probably null |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Rab42 |
T |
C |
4: 132,029,925 (GRCm39) |
E99G |
possibly damaging |
Het |
| Rd3l |
A |
T |
12: 111,945,916 (GRCm39) |
W188R |
probably damaging |
Het |
| Sap30bp |
A |
G |
11: 115,842,794 (GRCm39) |
D89G |
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,066,114 (GRCm39) |
T1985A |
probably benign |
Het |
| Tec |
T |
C |
5: 72,931,223 (GRCm39) |
Y247C |
probably damaging |
Het |
| Tek |
G |
A |
4: 94,716,063 (GRCm39) |
|
probably null |
Het |
| Tex14 |
T |
C |
11: 87,405,256 (GRCm39) |
S723P |
possibly damaging |
Het |
| Thumpd3 |
T |
A |
6: 113,024,592 (GRCm39) |
L62Q |
probably damaging |
Het |
| Tlr12 |
A |
T |
4: 128,509,963 (GRCm39) |
D762E |
probably damaging |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Vamp1 |
T |
C |
6: 125,195,538 (GRCm39) |
S2P |
unknown |
Het |
| Vmn1r211 |
T |
A |
13: 23,036,086 (GRCm39) |
M194L |
probably benign |
Het |
| Zfp874a |
T |
A |
13: 67,590,376 (GRCm39) |
Q436L |
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 |
|
|
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 |
|
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'- GCCTTCAGAAATTTTGCCAAAG -3'
(R):5'- GACTAATTGCTGAGCAGAAGTC -3'
Sequencing Primer
(F):5'- TCAAGACAATTTATAAGTGCAGGC -3'
(R):5'- GCTGAGCAGAAGTCTATACACTTAGC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation