Incidental Mutation 'R1441:Txndc11'
| ID |
262792 |
| 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 |
039496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R1441 (G1)
|
| Quality Score |
97 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
10892775-10952514 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to A
at 10952414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037633]
[ENSMUST00000038424]
[ENSMUST00000118362]
[ENSMUST00000118679]
[ENSMUST00000145225]
[ENSMUST00000155221]
[ENSMUST00000147884]
|
| AlphaFold |
Q8K2W3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037633
|
| SMART Domains |
Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2DBA|A
|
26 |
157 |
9e-7 |
PDB |
|
Blast:TPR
|
43 |
76 |
1e-7 |
BLAST |
|
SCOP:d1ihga1
|
46 |
169 |
1e-11 |
SMART |
|
Blast:TPR
|
124 |
156 |
9e-9 |
BLAST |
|
low complexity region
|
308 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
398 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
443 |
467 |
1.83e2 |
SMART |
|
ZnF_C3H1
|
630 |
654 |
1.57e1 |
SMART |
|
ZnF_C3H1
|
770 |
795 |
8.81e0 |
SMART |
|
ZnF_C2H2
|
856 |
880 |
1.62e0 |
SMART |
|
ZnF_C3H1
|
902 |
926 |
1.76e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038424
|
| SMART Domains |
Protein: ENSMUSP00000041113
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 |
5.8e-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: ENSMUST00000118679
|
| SMART Domains |
Protein: ENSMUSP00000112601
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 |
4.5e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138282
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143121
|
| 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 |
probably benign
Transcript: ENSMUST00000155221
|
| SMART Domains |
Protein: ENSMUSP00000114777
Gene: ENSMUSG00000022498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147884
|
| SMART Domains |
Protein: ENSMUSP00000117426
Gene: ENSMUSG00000022498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
T |
8: 114,481,194 (GRCm39) |
|
probably null |
Het |
| Ankrd16 |
T |
C |
2: 11,783,557 (GRCm39) |
L53P |
probably damaging |
Het |
| Arsk |
A |
T |
13: 76,223,083 (GRCm39) |
N171K |
probably benign |
Het |
| Brwd1 |
A |
C |
16: 95,867,351 (GRCm39) |
C161W |
probably damaging |
Het |
| Card9 |
T |
C |
2: 26,249,402 (GRCm39) |
N53S |
probably benign |
Het |
| Ccdc13 |
A |
T |
9: 121,642,515 (GRCm39) |
V403E |
probably benign |
Het |
| Ccdc83 |
T |
A |
7: 89,893,351 (GRCm39) |
E135D |
probably damaging |
Het |
| Ccser1 |
C |
T |
6: 62,357,016 (GRCm39) |
T818I |
probably benign |
Het |
| Cd44 |
T |
A |
2: 102,676,763 (GRCm39) |
T301S |
probably damaging |
Het |
| Eepd1 |
G |
A |
9: 25,394,499 (GRCm39) |
M254I |
probably benign |
Het |
| Ephb4 |
C |
T |
5: 137,359,509 (GRCm39) |
R360C |
probably damaging |
Het |
| Fam149a |
G |
T |
8: 45,808,684 (GRCm39) |
Q150K |
probably damaging |
Het |
| G6pc2 |
G |
A |
2: 69,051,198 (GRCm39) |
C97Y |
probably damaging |
Het |
| Gcsam |
T |
A |
16: 45,433,401 (GRCm39) |
M15K |
probably benign |
Het |
| Impdh2 |
C |
A |
9: 108,441,975 (GRCm39) |
T201K |
probably benign |
Het |
| Kdm2b |
C |
T |
5: 123,070,943 (GRCm39) |
E379K |
probably benign |
Het |
| Mcm3ap |
T |
C |
10: 76,307,000 (GRCm39) |
V371A |
probably benign |
Het |
| Mink1 |
T |
A |
11: 70,497,940 (GRCm39) |
N514K |
possibly damaging |
Het |
| Mmp12 |
C |
T |
9: 7,354,787 (GRCm39) |
P330L |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,169,353 (GRCm39) |
D676G |
possibly damaging |
Het |
| Myo1a |
C |
T |
10: 127,555,148 (GRCm39) |
P838L |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,356,225 (GRCm39) |
H1130R |
possibly damaging |
Het |
| Ninl |
C |
A |
2: 150,813,044 (GRCm39) |
G204V |
probably benign |
Het |
| Or12k5 |
C |
A |
2: 36,895,131 (GRCm39) |
R165L |
possibly damaging |
Het |
| Or2a54 |
T |
C |
6: 43,092,880 (GRCm39) |
V68A |
probably benign |
Het |
| Or4k51 |
T |
C |
2: 111,585,347 (GRCm39) |
F251S |
probably damaging |
Het |
| Or5ac20 |
G |
A |
16: 59,104,228 (GRCm39) |
L211F |
probably benign |
Het |
| Or5an11 |
T |
A |
19: 12,245,750 (GRCm39) |
L52* |
probably null |
Het |
| Or8c15 |
T |
C |
9: 38,120,777 (GRCm39) |
C141R |
probably damaging |
Het |
| Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
| Pip4p2 |
A |
T |
4: 14,892,477 (GRCm39) |
I114L |
possibly damaging |
Het |
| Ptpn22 |
G |
T |
3: 103,781,563 (GRCm39) |
W114L |
probably damaging |
Het |
| Rasa1 |
C |
T |
13: 85,400,540 (GRCm39) |
|
probably null |
Het |
| Rbks |
C |
T |
5: 31,817,341 (GRCm39) |
V143I |
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,269,241 (GRCm39) |
F515L |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,298,180 (GRCm39) |
T518A |
probably benign |
Het |
| Rpusd4 |
C |
A |
9: 35,184,065 (GRCm39) |
A240E |
probably damaging |
Het |
| Rufy3 |
T |
C |
5: 88,780,374 (GRCm39) |
L374P |
probably damaging |
Het |
| Sf3a3 |
T |
C |
4: 124,618,935 (GRCm39) |
S299P |
probably damaging |
Het |
| Slc7a12 |
T |
G |
3: 14,562,414 (GRCm39) |
S264A |
possibly damaging |
Het |
| Tasor |
T |
A |
14: 27,186,217 (GRCm39) |
C805* |
probably null |
Het |
| Tm9sf1 |
T |
C |
14: 55,873,782 (GRCm39) |
Y572C |
probably damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,813,871 (GRCm39) |
S475L |
probably benign |
Het |
| Trim17 |
A |
G |
11: 58,856,018 (GRCm39) |
D25G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,572,121 (GRCm39) |
K26257N |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,559,039 (GRCm39) |
S1405P |
probably damaging |
Het |
| Vmn2r58 |
G |
A |
7: 41,486,864 (GRCm39) |
T677I |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-02-04 |
Incidental Mutation