Incidental Mutation 'R3433:Txndc11'
ID |
266312 |
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 |
040651-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R3433 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
10892775-10952514 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 10906052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 493
(T493A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113432
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038424]
[ENSMUST00000118362]
[ENSMUST00000145225]
|
AlphaFold |
Q8K2W3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038424
AA Change: T493A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041113 Gene: ENSMUSG00000022498 AA Change: T493A
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
AA Change: T493A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113432 Gene: ENSMUSG00000022498 AA Change: T493A
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 |
noncoding transcript
Transcript: ENSMUST00000131012
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148183
|
Meta Mutation Damage Score |
0.0584 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
A |
7: 119,893,455 (GRCm39) |
W1302R |
probably damaging |
Het |
Abcf1 |
A |
G |
17: 36,269,109 (GRCm39) |
Y689H |
probably benign |
Het |
Adamtsl5 |
T |
C |
10: 80,178,725 (GRCm39) |
T218A |
probably benign |
Het |
Ahnak |
G |
T |
19: 8,987,358 (GRCm39) |
V2881L |
probably benign |
Het |
Atp6v1b1 |
C |
A |
6: 83,720,074 (GRCm39) |
T3K |
possibly damaging |
Het |
Atp8b5 |
A |
T |
4: 43,372,697 (GRCm39) |
R1112S |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,745,151 (GRCm39) |
D1331G |
probably benign |
Het |
Catsperg2 |
A |
G |
7: 29,400,643 (GRCm39) |
F696S |
possibly damaging |
Het |
Cd33 |
T |
C |
7: 43,179,331 (GRCm39) |
T273A |
probably benign |
Het |
Cenpf |
C |
T |
1: 189,392,146 (GRCm39) |
C562Y |
probably damaging |
Het |
Cep192 |
A |
G |
18: 67,967,963 (GRCm39) |
R816G |
probably benign |
Het |
Cnot11 |
G |
A |
1: 39,584,268 (GRCm39) |
|
probably null |
Het |
Col18a1 |
A |
G |
10: 76,932,102 (GRCm39) |
L329P |
unknown |
Het |
Dnah9 |
T |
C |
11: 65,965,938 (GRCm39) |
M1693V |
possibly damaging |
Het |
Fbxo41 |
A |
G |
6: 85,454,613 (GRCm39) |
I701T |
probably damaging |
Het |
Figla |
G |
T |
6: 85,994,411 (GRCm39) |
R62L |
probably damaging |
Het |
Gca |
T |
G |
2: 62,520,318 (GRCm39) |
S159R |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm10845 |
C |
T |
14: 80,100,851 (GRCm39) |
|
noncoding transcript |
Het |
Gm5114 |
T |
C |
7: 39,058,621 (GRCm39) |
K333E |
probably benign |
Het |
Ift140 |
T |
C |
17: 25,255,282 (GRCm39) |
I466T |
probably benign |
Het |
Il6st |
A |
G |
13: 112,640,365 (GRCm39) |
K653E |
probably damaging |
Het |
Kansl2 |
A |
G |
15: 98,426,742 (GRCm39) |
|
probably null |
Het |
Kcnh7 |
T |
C |
2: 62,552,261 (GRCm39) |
D910G |
probably benign |
Het |
Leng8 |
C |
A |
7: 4,145,131 (GRCm39) |
T177K |
probably benign |
Het |
Lrrtm2 |
A |
C |
18: 35,346,950 (GRCm39) |
S117R |
probably damaging |
Het |
Megf8 |
G |
T |
7: 25,059,549 (GRCm39) |
A2285S |
probably benign |
Het |
Meiob |
T |
C |
17: 25,035,571 (GRCm39) |
|
probably benign |
Het |
Myo18a |
G |
T |
11: 77,708,870 (GRCm39) |
|
probably null |
Het |
Nars1 |
A |
T |
18: 64,642,374 (GRCm39) |
M156K |
probably damaging |
Het |
Ndor1 |
A |
G |
2: 25,137,823 (GRCm39) |
S499P |
possibly damaging |
Het |
Or2a57 |
A |
T |
6: 43,212,607 (GRCm39) |
I22F |
probably damaging |
Het |
Or2r11 |
G |
A |
6: 42,437,888 (GRCm39) |
H22Y |
probably benign |
Het |
Or4a78 |
T |
C |
2: 89,497,577 (GRCm39) |
I218V |
probably benign |
Het |
Pcdh15 |
T |
G |
10: 74,467,331 (GRCm39) |
S1715A |
probably benign |
Het |
Ptprd |
C |
A |
4: 76,004,248 (GRCm39) |
|
probably null |
Het |
Ros1 |
A |
G |
10: 51,967,204 (GRCm39) |
Y1668H |
probably benign |
Het |
Rrbp1 |
A |
G |
2: 143,794,200 (GRCm39) |
|
probably benign |
Het |
Rtn4rl2 |
T |
C |
2: 84,702,444 (GRCm39) |
Y376C |
probably damaging |
Het |
Seh1l |
A |
C |
18: 67,926,222 (GRCm39) |
K358T |
probably benign |
Het |
Sema3e |
A |
T |
5: 14,302,728 (GRCm39) |
Y751F |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Spred2 |
G |
T |
11: 19,948,277 (GRCm39) |
E91* |
probably null |
Het |
Sspo |
A |
T |
6: 48,452,885 (GRCm39) |
|
probably null |
Het |
Tcaf1 |
A |
G |
6: 42,663,508 (GRCm39) |
V124A |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,901,360 (GRCm39) |
|
probably benign |
Het |
Usp17lb |
T |
A |
7: 104,490,855 (GRCm39) |
Q23L |
possibly damaging |
Het |
Vgf |
T |
C |
5: 137,059,873 (GRCm39) |
F12L |
probably benign |
Het |
Zfp13 |
G |
A |
17: 23,795,602 (GRCm39) |
T323I |
probably damaging |
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 |
|
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 |
|
R7683:Txndc11
|
UTSW |
16 |
10,902,099 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TCAATGTGAGGAATGGAGCTC -3'
(R):5'- TCACTGCCTGATACTCAGCTG -3'
Sequencing Primer
(F):5'- ATGGAGCTCGGGGCAGTG -3'
(R):5'- CTGATACTCAGCTGATGGCAG -3'
|
Posted On |
2015-02-18 |