Incidental Mutation 'R6441:Txndc9'
| ID |
518998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txndc9
|
| Ensembl Gene |
ENSMUSG00000058407 |
| Gene Name |
thioredoxin domain containing 9 |
| Synonyms |
Apacd, ATP binding protein associated with cell differentiation |
| MMRRC Submission |
044579-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.490)
|
| Stock # |
R6441 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
38024270-38036974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38029299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 183
(D183V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162031]
[ENSMUST00000192237]
[ENSMUST00000192960]
[ENSMUST00000193832]
[ENSMUST00000195032]
[ENSMUST00000195247]
|
| AlphaFold |
Q9CQ79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162031
AA Change: D183V
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125491
Gene: ENSMUSG00000058407
AA Change: D183V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
15 |
180 |
5.1e-8 |
PFAM |
|
Pfam:Thioredoxin
|
75 |
172 |
9.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192237
|
| SMART Domains |
Protein: ENSMUSP00000141640
Gene: ENSMUSG00000058407
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
75 |
166 |
6.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192960
|
| SMART Domains |
Protein: ENSMUSP00000141281
Gene: ENSMUSG00000058407
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193832
AA Change: D183V
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142188
Gene: ENSMUSG00000058407
AA Change: D183V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
15 |
180 |
6.1e-5 |
PFAM |
|
Pfam:Thioredoxin
|
75 |
172 |
6.5e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195032
AA Change: D183V
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141595
Gene: ENSMUSG00000058407
AA Change: D183V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
15 |
180 |
5.1e-8 |
PFAM |
|
Pfam:Thioredoxin
|
75 |
172 |
9.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195247
AA Change: D183V
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141609
Gene: ENSMUSG00000058407
AA Change: D183V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
15 |
180 |
5.1e-8 |
PFAM |
|
Pfam:Thioredoxin
|
75 |
172 |
9.2e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.2283 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the thioredoxin family. The exact function of this protein is not known but it is associated with cell differentiation. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,565,108 (GRCm39) |
M1047K |
probably benign |
Het |
| Apob |
A |
T |
12: 8,037,796 (GRCm39) |
D322V |
probably damaging |
Het |
| Capn12 |
T |
A |
7: 28,587,427 (GRCm39) |
C438S |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,143,815 (GRCm39) |
V2932E |
probably damaging |
Het |
| Cdh9 |
A |
T |
15: 16,823,509 (GRCm39) |
T164S |
probably benign |
Het |
| Cimap1a |
T |
C |
7: 140,429,161 (GRCm39) |
S149P |
probably damaging |
Het |
| CN725425 |
T |
C |
15: 91,120,005 (GRCm39) |
V42A |
probably benign |
Het |
| Cpb1 |
T |
C |
3: 20,303,978 (GRCm39) |
D362G |
probably damaging |
Het |
| Csmd2 |
C |
A |
4: 128,288,757 (GRCm39) |
Q1099K |
probably benign |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Galnt4 |
A |
G |
10: 98,945,960 (GRCm39) |
M562V |
possibly damaging |
Het |
| Gtf3c3 |
T |
A |
1: 54,445,197 (GRCm39) |
E619V |
probably benign |
Het |
| Gucy2c |
A |
T |
6: 136,700,759 (GRCm39) |
M585K |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,578,967 (GRCm39) |
I1993T |
possibly damaging |
Het |
| Lonrf2 |
T |
C |
1: 38,857,204 (GRCm39) |
E44G |
possibly damaging |
Het |
| Lrit3 |
A |
T |
3: 129,594,009 (GRCm39) |
F189L |
probably benign |
Het |
| Mag |
T |
C |
7: 30,606,508 (GRCm39) |
N310D |
possibly damaging |
Het |
| Mccc2 |
T |
C |
13: 100,091,184 (GRCm39) |
T151A |
probably damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,389,139 (GRCm39) |
S49T |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,085,437 (GRCm39) |
E1787G |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,974,712 (GRCm39) |
D728G |
probably benign |
Het |
| Nup37 |
A |
G |
10: 87,996,799 (GRCm39) |
E139G |
probably benign |
Het |
| Or52h9 |
C |
T |
7: 104,202,542 (GRCm39) |
Q139* |
probably null |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,138 (GRCm39) |
Y311C |
probably damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Rbm44 |
A |
T |
1: 91,084,799 (GRCm39) |
N674Y |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,759,120 (GRCm39) |
I3353V |
possibly damaging |
Het |
| Sema3c |
C |
T |
5: 17,929,130 (GRCm39) |
T588I |
possibly damaging |
Het |
| Sh2d5 |
A |
T |
4: 137,986,393 (GRCm39) |
E372V |
possibly damaging |
Het |
| Slc27a6 |
C |
T |
18: 58,705,130 (GRCm39) |
P171S |
probably benign |
Het |
| Slfn3 |
C |
T |
11: 83,105,740 (GRCm39) |
T579I |
probably benign |
Het |
| Svil |
T |
G |
18: 5,049,323 (GRCm39) |
V287G |
probably benign |
Het |
| Tas1r2 |
T |
A |
4: 139,396,467 (GRCm39) |
V602D |
probably damaging |
Het |
| Tln2 |
A |
G |
9: 67,179,971 (GRCm39) |
L800P |
probably damaging |
Het |
| Trim31 |
C |
A |
17: 37,218,683 (GRCm39) |
Q323K |
possibly damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,474 (GRCm39) |
M258L |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,820,784 (GRCm39) |
I50N |
probably damaging |
Het |
| Zgrf1 |
A |
T |
3: 127,381,683 (GRCm39) |
N1161Y |
possibly damaging |
Het |
|
| Other mutations in Txndc9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1807:Txndc9
|
UTSW |
1 |
38,033,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3918:Txndc9
|
UTSW |
1 |
38,033,131 (GRCm39) |
nonsense |
probably null |
|
|
R4489:Txndc9
|
UTSW |
1 |
38,034,871 (GRCm39) |
nonsense |
probably null |
|
|
R4742:Txndc9
|
UTSW |
1 |
38,026,765 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5020:Txndc9
|
UTSW |
1 |
38,034,793 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5341:Txndc9
|
UTSW |
1 |
38,026,704 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6917:Txndc9
|
UTSW |
1 |
38,034,887 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7145:Txndc9
|
UTSW |
1 |
38,029,377 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7686:Txndc9
|
UTSW |
1 |
38,026,849 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9359:Txndc9
|
UTSW |
1 |
38,034,859 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9403:Txndc9
|
UTSW |
1 |
38,034,859 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACATTTTAGCCAGCAGGTC -3'
(R):5'- ATGTGGAAAAGGCACCATTCC -3'
Sequencing Primer
(F):5'- GCAGATCTCTGAGTTAAGGCTACC -3'
(R):5'- GGAAAAGGCACCATTCCTCTGTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation