Incidental Mutation 'R1327:Txndc11'
| ID |
157257 |
| 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 |
039393-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R1327 (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 10934678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 223
(D223G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113432
(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: D223G
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041113
Gene: ENSMUSG00000022498
AA Change: D223G
| 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 |
possibly damaging
Transcript: ENSMUST00000118362
AA Change: D223G
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113432
Gene: ENSMUSG00000022498
AA Change: D223G
| 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: D223G
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112601
Gene: ENSMUSG00000022498
AA Change: D223G
| 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: ENSMUST00000131012
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145225
AA Change: D223G
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000116563
Gene: ENSMUSG00000022498
AA Change: D223G
| 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 |
|
| Meta Mutation Damage Score |
0.0979 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 88.1%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
T |
C |
1: 180,560,748 (GRCm39) |
F99L |
possibly damaging |
Het |
| Arg1 |
T |
C |
10: 24,796,702 (GRCm39) |
|
probably null |
Het |
| Bsnd |
C |
T |
4: 106,343,809 (GRCm39) |
E166K |
probably benign |
Het |
| Cxcl9 |
A |
G |
5: 92,474,709 (GRCm39) |
C30R |
probably damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
| Epha5 |
C |
A |
5: 84,254,644 (GRCm39) |
D632Y |
probably damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,661,859 (GRCm39) |
Y79H |
probably benign |
Het |
| Fh1 |
A |
G |
1: 175,437,310 (GRCm39) |
M263T |
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,177 (GRCm39) |
I245N |
possibly damaging |
Het |
| Ms4a13 |
A |
T |
19: 11,161,251 (GRCm39) |
I96N |
probably damaging |
Het |
| Nipa2 |
G |
A |
7: 55,594,256 (GRCm39) |
L38F |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,269,840 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,361,098 (GRCm39) |
D454E |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,418,193 (GRCm39) |
G973D |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,408,376 (GRCm39) |
V922A |
possibly damaging |
Het |
| Setbp1 |
T |
C |
18: 78,826,573 (GRCm39) |
M1347V |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,703,016 (GRCm39) |
I130V |
probably benign |
Het |
| Smad7 |
T |
C |
18: 75,509,016 (GRCm39) |
S48P |
probably benign |
Het |
| Star |
A |
G |
8: 26,299,865 (GRCm39) |
D69G |
probably benign |
Het |
| Syne1 |
C |
A |
10: 4,998,925 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,743,743 (GRCm39) |
N1212K |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,090,556 (GRCm39) |
M721V |
probably benign |
Het |
| Vit |
G |
A |
17: 78,932,629 (GRCm39) |
D579N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,464,173 (GRCm39) |
|
probably benign |
Het |
| Zfp1005 |
A |
T |
2: 150,108,070 (GRCm39) |
H10L |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,724,189 (GRCm39) |
E2064G |
probably damaging |
Het |
| Zftraf1 |
T |
A |
15: 76,533,376 (GRCm39) |
T121S |
probably damaging |
Het |
| Zic5 |
T |
G |
14: 122,697,191 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,784,240 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TGGCCTTTTAATGCTCACTTAGCCAG -3'
(R):5'- GTGTTGATGGCTTTTGTTACACGTTACA -3'
Sequencing Primer
(F):5'- gttacagtcagtttcaagtcacc -3'
(R):5'- CACGTTACAGGTTTAATGCATGG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation