Incidental Mutation 'R5273:Txndc11'
| ID |
403788 |
| 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 |
042862-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5273 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
10892775-10952514 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10946487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 108
(Q108R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038424]
[ENSMUST00000118362]
[ENSMUST00000118679]
[ENSMUST00000145225]
[ENSMUST00000147884]
[ENSMUST00000155221]
|
| AlphaFold |
Q8K2W3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038424
AA Change: Q108R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000041113
Gene: ENSMUSG00000022498
AA Change: Q108R
| 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: Q108R
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113432
Gene: ENSMUSG00000022498
AA Change: Q108R
| 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
AA Change: Q108R
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000112601
Gene: ENSMUSG00000022498
AA Change: Q108R
| 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 |
probably benign
Transcript: ENSMUST00000145225
AA Change: Q108R
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000116563
Gene: ENSMUSG00000022498
AA Change: Q108R
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,832,233 (GRCm39) |
N799S |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,759,916 (GRCm39) |
N589S |
probably damaging |
Het |
| Armc10 |
C |
T |
5: 21,858,426 (GRCm39) |
A157V |
possibly damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,736,193 (GRCm39) |
L958P |
probably damaging |
Het |
| Bhmt2 |
G |
A |
13: 93,803,086 (GRCm39) |
A149V |
possibly damaging |
Het |
| Ccdc7a |
CATCAGCTGATAT |
CAT |
8: 129,788,090 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
A |
G |
8: 113,460,070 (GRCm39) |
D141G |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,273,825 (GRCm39) |
S2603P |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,292,422 (GRCm39) |
S3012P |
unknown |
Het |
| Dis3 |
A |
G |
14: 99,336,242 (GRCm39) |
V88A |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,454,893 (GRCm39) |
C316S |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,363,689 (GRCm39) |
T4084A |
probably damaging |
Het |
| Dock3 |
A |
C |
9: 106,777,904 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,756,947 (GRCm39) |
H1894R |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,218,330 (GRCm39) |
Y174C |
probably damaging |
Het |
| Gm4841 |
C |
T |
18: 60,403,815 (GRCm39) |
V93I |
probably benign |
Het |
| Gm7995 |
T |
C |
14: 42,133,413 (GRCm39) |
Y98H |
probably damaging |
Het |
| Gnrhr |
T |
A |
5: 86,330,105 (GRCm39) |
H305L |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,238,256 (GRCm39) |
F323I |
probably damaging |
Het |
| Kdm6b |
G |
T |
11: 69,295,027 (GRCm39) |
P1080Q |
unknown |
Het |
| Man2a1 |
C |
T |
17: 65,040,780 (GRCm39) |
T126I |
probably damaging |
Het |
| Mdm4 |
G |
A |
1: 132,922,320 (GRCm39) |
T274M |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,850,748 (GRCm39) |
V748E |
probably damaging |
Het |
| Nav3 |
A |
T |
10: 109,528,899 (GRCm39) |
|
probably null |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Or8d6 |
T |
C |
9: 39,853,853 (GRCm39) |
V99A |
probably benign |
Het |
| Or8g36 |
A |
G |
9: 39,422,795 (GRCm39) |
S74P |
possibly damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,766 (GRCm39) |
V239A |
probably benign |
Het |
| Ppic |
T |
A |
18: 53,542,330 (GRCm39) |
H126L |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,984,583 (GRCm39) |
F463L |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,354,671 (GRCm39) |
E197G |
possibly damaging |
Het |
| Slc22a14 |
A |
G |
9: 118,999,704 (GRCm39) |
S496P |
probably benign |
Het |
| Slc27a1 |
G |
A |
8: 72,036,900 (GRCm39) |
G379S |
probably benign |
Het |
| Slco1a5 |
T |
C |
6: 142,187,824 (GRCm39) |
E505G |
probably benign |
Het |
| Snrpe |
A |
C |
1: 133,537,518 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
G |
T |
1: 85,636,825 (GRCm39) |
V299F |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,535,568 (GRCm39) |
S3942G |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,644,948 (GRCm39) |
V12969A |
probably damaging |
Het |
| Wnk4 |
A |
T |
11: 101,154,695 (GRCm39) |
I295F |
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 |
|
|
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 |
|
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'- ACTTGACAGTCACCGCTTG -3'
(R):5'- ATCTGTACTGTCCCAGCCAG -3'
Sequencing Primer
(F):5'- CTTGGGTGAAAGCACACA -3'
(R):5'- TACTGTCCCAGCCAGGTGTTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation