Incidental Mutation 'R7683:Txndc11'
ID |
592899 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Txndc11
|
Ensembl Gene |
ENSMUSG00000022498 |
Gene Name |
thioredoxin domain containing 11 |
Synonyms |
2810408E11Rik, EF-hand binding protein 1, EFP1, Txdc11 |
MMRRC Submission |
045749-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R7683 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
10892775-10952514 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 10902099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 705
(L705Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041113
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038424]
[ENSMUST00000118362]
[ENSMUST00000145225]
|
AlphaFold |
Q8K2W3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038424
AA Change: L705Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041113 Gene: ENSMUSG00000022498 AA Change: L705Q
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
Pfam:Thioredoxin
|
107 |
208 |
5.8e-11 |
PFAM |
Pfam:Thioredoxin
|
660 |
756 |
1e-11 |
PFAM |
coiled coil region
|
793 |
830 |
N/A |
INTRINSIC |
low complexity region
|
927 |
936 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118362
|
SMART Domains |
Protein: ENSMUSP00000113432 Gene: ENSMUSG00000022498
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
Pfam:Thioredoxin
|
107 |
208 |
2.5e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145225
|
SMART Domains |
Protein: ENSMUSP00000116563 Gene: ENSMUSG00000022498
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
Pfam:Thioredoxin
|
107 |
208 |
5.2e-12 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtpbp1 |
A |
G |
13: 59,660,312 (GRCm39) |
C305R |
probably damaging |
Het |
Anpep |
C |
A |
7: 79,488,946 (GRCm39) |
V381L |
probably damaging |
Het |
Ap5s1 |
T |
C |
2: 131,054,627 (GRCm39) |
L146P |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,629,690 (GRCm39) |
I599V |
probably damaging |
Het |
Arpc2 |
T |
C |
1: 74,302,973 (GRCm39) |
Y250H |
probably damaging |
Het |
Baz1b |
T |
A |
5: 135,246,582 (GRCm39) |
M677K |
probably damaging |
Het |
Begain |
C |
T |
12: 108,999,413 (GRCm39) |
A453T |
unknown |
Het |
C1ql4 |
T |
C |
15: 98,985,092 (GRCm39) |
D173G |
probably benign |
Het |
Card11 |
T |
G |
5: 140,881,781 (GRCm39) |
N461T |
probably benign |
Het |
Ccdc9 |
T |
C |
7: 16,018,287 (GRCm39) |
D7G |
probably damaging |
Het |
Ces2a |
T |
C |
8: 105,463,744 (GRCm39) |
V152A |
probably benign |
Het |
Chl1 |
G |
A |
6: 103,668,613 (GRCm39) |
A449T |
possibly damaging |
Het |
Col11a1 |
G |
T |
3: 113,907,385 (GRCm39) |
G638W |
unknown |
Het |
Cse1l |
A |
T |
2: 166,764,708 (GRCm39) |
T171S |
probably benign |
Het |
D2hgdh |
T |
A |
1: 93,766,687 (GRCm39) |
|
probably null |
Het |
Dlg4 |
T |
C |
11: 69,930,680 (GRCm39) |
Y432H |
possibly damaging |
Het |
Dmwd |
C |
T |
7: 18,814,660 (GRCm39) |
L437F |
probably damaging |
Het |
F11 |
T |
A |
8: 45,702,545 (GRCm39) |
Q251L |
probably damaging |
Het |
Gtf2f1 |
T |
A |
17: 57,312,458 (GRCm39) |
E195V |
possibly damaging |
Het |
Hap1 |
A |
T |
11: 100,242,374 (GRCm39) |
L376Q |
probably damaging |
Het |
Hars2 |
T |
A |
18: 36,921,289 (GRCm39) |
I234N |
probably damaging |
Het |
Hcfc2 |
T |
C |
10: 82,535,063 (GRCm39) |
V29A |
probably benign |
Het |
Hp |
C |
T |
8: 110,305,731 (GRCm39) |
|
probably benign |
Het |
Hrh1 |
T |
C |
6: 114,456,748 (GRCm39) |
S10P |
probably benign |
Het |
Kcnmb2 |
A |
G |
3: 32,252,465 (GRCm39) |
Y222C |
probably damaging |
Het |
Kdm3a |
A |
G |
6: 71,576,438 (GRCm39) |
V792A |
probably benign |
Het |
Kif13b |
G |
A |
14: 64,994,956 (GRCm39) |
V903I |
probably benign |
Het |
Lars2 |
G |
T |
9: 123,206,895 (GRCm39) |
|
probably null |
Het |
Med7 |
A |
G |
11: 46,331,687 (GRCm39) |
D94G |
possibly damaging |
Het |
Mier3 |
A |
G |
13: 111,841,846 (GRCm39) |
T136A |
probably benign |
Het |
Nin |
T |
C |
12: 70,124,956 (GRCm39) |
E122G |
|
Het |
Or5h18 |
G |
T |
16: 58,847,469 (GRCm39) |
T267K |
probably benign |
Het |
Or6k14 |
A |
G |
1: 173,927,042 (GRCm39) |
Q6R |
probably benign |
Het |
Oxsr1 |
T |
C |
9: 119,070,821 (GRCm39) |
I489V |
probably benign |
Het |
Pdcd6ip |
A |
T |
9: 113,516,763 (GRCm39) |
L216Q |
probably damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,553,364 (GRCm39) |
C379* |
probably null |
Het |
Pramel24 |
A |
T |
4: 143,453,284 (GRCm39) |
K131* |
probably null |
Het |
Ptpn13 |
T |
A |
5: 103,713,018 (GRCm39) |
C1714S |
probably benign |
Het |
Pum2 |
G |
A |
12: 8,778,922 (GRCm39) |
R498Q |
possibly damaging |
Het |
Sema3d |
T |
A |
5: 12,623,823 (GRCm39) |
Y577* |
probably null |
Het |
Slc29a3 |
G |
A |
10: 60,552,145 (GRCm39) |
P300S |
not run |
Het |
Slc5a4b |
A |
G |
10: 75,899,906 (GRCm39) |
V444A |
probably damaging |
Het |
Smad9 |
A |
G |
3: 54,696,685 (GRCm39) |
E250G |
probably damaging |
Het |
Srsf7 |
A |
G |
17: 80,514,703 (GRCm39) |
|
probably benign |
Het |
Thsd7b |
A |
G |
1: 129,523,683 (GRCm39) |
Y239C |
probably damaging |
Het |
Triml2 |
C |
A |
8: 43,638,325 (GRCm39) |
Q98K |
probably damaging |
Het |
Vmn1r22 |
A |
G |
6: 57,877,404 (GRCm39) |
M191T |
probably damaging |
Het |
Vmn2r89 |
A |
T |
14: 51,692,651 (GRCm39) |
K151N |
probably benign |
Het |
Vwa5a |
A |
G |
9: 38,646,125 (GRCm39) |
I498V |
probably damaging |
Het |
Zfp459 |
T |
C |
13: 67,556,615 (GRCm39) |
H156R |
probably damaging |
Het |
Zscan18 |
T |
A |
7: 12,503,532 (GRCm39) |
K676* |
probably null |
Het |
|
Other mutations in Txndc11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00562:Txndc11
|
APN |
16 |
10,922,496 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00563:Txndc11
|
APN |
16 |
10,922,496 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02576:Txndc11
|
APN |
16 |
10,892,881 (GRCm39) |
unclassified |
probably benign |
|
IGL03070:Txndc11
|
APN |
16 |
10,893,151 (GRCm39) |
missense |
probably damaging |
0.97 |
P0047:Txndc11
|
UTSW |
16 |
10,909,661 (GRCm39) |
splice site |
probably benign |
|
R0091:Txndc11
|
UTSW |
16 |
10,905,968 (GRCm39) |
missense |
probably benign |
|
R0448:Txndc11
|
UTSW |
16 |
10,909,625 (GRCm39) |
missense |
probably damaging |
0.99 |
R0796:Txndc11
|
UTSW |
16 |
10,952,338 (GRCm39) |
small deletion |
probably benign |
|
R0960:Txndc11
|
UTSW |
16 |
10,909,453 (GRCm39) |
missense |
probably benign |
0.28 |
R1184:Txndc11
|
UTSW |
16 |
10,946,364 (GRCm39) |
missense |
probably benign |
0.03 |
R1327:Txndc11
|
UTSW |
16 |
10,934,678 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1441:Txndc11
|
UTSW |
16 |
10,952,414 (GRCm39) |
start gained |
probably benign |
|
R1515:Txndc11
|
UTSW |
16 |
10,892,926 (GRCm39) |
missense |
probably damaging |
0.98 |
R1699:Txndc11
|
UTSW |
16 |
10,905,639 (GRCm39) |
critical splice donor site |
probably null |
|
R1709:Txndc11
|
UTSW |
16 |
10,946,565 (GRCm39) |
nonsense |
probably null |
|
R1850:Txndc11
|
UTSW |
16 |
10,906,268 (GRCm39) |
missense |
probably damaging |
0.98 |
R2026:Txndc11
|
UTSW |
16 |
10,952,338 (GRCm39) |
small deletion |
probably benign |
|
R3433:Txndc11
|
UTSW |
16 |
10,906,052 (GRCm39) |
missense |
probably benign |
|
R4468:Txndc11
|
UTSW |
16 |
10,893,087 (GRCm39) |
missense |
probably benign |
0.01 |
R4469:Txndc11
|
UTSW |
16 |
10,893,087 (GRCm39) |
missense |
probably benign |
0.01 |
R4652:Txndc11
|
UTSW |
16 |
10,892,986 (GRCm39) |
missense |
probably benign |
|
R4675:Txndc11
|
UTSW |
16 |
10,902,745 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4697:Txndc11
|
UTSW |
16 |
10,902,178 (GRCm39) |
missense |
probably damaging |
0.99 |
R4907:Txndc11
|
UTSW |
16 |
10,906,398 (GRCm39) |
missense |
probably benign |
0.17 |
R5205:Txndc11
|
UTSW |
16 |
10,946,529 (GRCm39) |
missense |
probably damaging |
0.98 |
R5273:Txndc11
|
UTSW |
16 |
10,946,487 (GRCm39) |
missense |
probably benign |
0.07 |
R5865:Txndc11
|
UTSW |
16 |
10,940,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R5873:Txndc11
|
UTSW |
16 |
10,893,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R5941:Txndc11
|
UTSW |
16 |
10,892,935 (GRCm39) |
missense |
probably benign |
0.04 |
R6360:Txndc11
|
UTSW |
16 |
10,902,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R6894:Txndc11
|
UTSW |
16 |
10,906,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R7285:Txndc11
|
UTSW |
16 |
10,902,163 (GRCm39) |
missense |
probably damaging |
0.98 |
R7334:Txndc11
|
UTSW |
16 |
10,946,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R7502:Txndc11
|
UTSW |
16 |
10,905,742 (GRCm39) |
missense |
probably benign |
0.08 |
R7660:Txndc11
|
UTSW |
16 |
10,905,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R7677:Txndc11
|
UTSW |
16 |
10,952,338 (GRCm39) |
small deletion |
probably benign |
|
R8315:Txndc11
|
UTSW |
16 |
10,893,465 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9395:Txndc11
|
UTSW |
16 |
10,902,683 (GRCm39) |
missense |
probably benign |
0.03 |
R9406:Txndc11
|
UTSW |
16 |
10,893,498 (GRCm39) |
missense |
probably benign |
0.45 |
R9494:Txndc11
|
UTSW |
16 |
10,952,156 (GRCm39) |
missense |
probably damaging |
1.00 |
X0020:Txndc11
|
UTSW |
16 |
10,902,082 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Predicted Primers |
PCR Primer
(F):5'- TATGATCATTAACTTCCAGCCCACC -3'
(R):5'- CGAGTTGACTCAATGCCTTTGG -3'
Sequencing Primer
(F):5'- GATTTCTGAGTTCGAGGCCAACC -3'
(R):5'- GAGTTGACTCAATGCCTTTGGAATTC -3'
|
Posted On |
2019-11-12 |