Incidental Mutation 'R3918:Txndc9'
| ID |
307483 |
| 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 |
040816-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.490)
|
| Stock # |
R3918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
38024270-38036974 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 38033131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 84
(Q84*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027252]
[ENSMUST00000162031]
[ENSMUST00000192237]
[ENSMUST00000192960]
[ENSMUST00000193832]
[ENSMUST00000195032]
[ENSMUST00000195247]
|
| AlphaFold |
Q9CQ79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027252
|
| SMART Domains |
Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
193 |
N/A |
INTRINSIC |
|
coiled coil region
|
227 |
272 |
N/A |
INTRINSIC |
|
coiled coil region
|
301 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
498 |
N/A |
INTRINSIC |
|
coiled coil region
|
523 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
594 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
625 |
840 |
4.7e-35 |
PFAM |
|
Pfam:MMR_HSR1
|
629 |
753 |
5.1e-6 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
866 |
944 |
7.1e-11 |
PFAM |
|
Pfam:IF-2
|
959 |
1066 |
1.4e-20 |
PFAM |
|
Blast:S1
|
1116 |
1172 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000072243
AA Change: Q84*
|
| SMART Domains |
Protein: ENSMUSP00000072096
Gene: ENSMUSG00000058407
AA Change: Q84*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
15 |
180 |
5.1e-8 |
PFAM |
|
Pfam:Thioredoxin
|
75 |
173 |
3e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162031
AA Change: Q84*
|
| SMART Domains |
Protein: ENSMUSP00000125491
Gene: ENSMUSG00000058407
AA Change: Q84*
| 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 null
Transcript: ENSMUST00000192237
AA Change: Q84*
|
| SMART Domains |
Protein: ENSMUSP00000141640
Gene: ENSMUSG00000058407
AA Change: Q84*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
75 |
166 |
6.1e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192548
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000192960
AA Change: Q84*
|
| SMART Domains |
Protein: ENSMUSP00000141281
Gene: ENSMUSG00000058407
AA Change: Q84*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193832
AA Change: Q84*
|
| SMART Domains |
Protein: ENSMUSP00000142188
Gene: ENSMUSG00000058407
AA Change: Q84*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
15 |
180 |
6.1e-5 |
PFAM |
|
Pfam:Thioredoxin
|
75 |
172 |
6.5e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000195032
AA Change: Q84*
|
| SMART Domains |
Protein: ENSMUSP00000141595
Gene: ENSMUSG00000058407
AA Change: Q84*
| 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 null
Transcript: ENSMUST00000195247
AA Change: Q84*
|
| SMART Domains |
Protein: ENSMUSP00000141609
Gene: ENSMUSG00000058407
AA Change: Q84*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
15 |
180 |
5.1e-8 |
PFAM |
|
Pfam:Thioredoxin
|
75 |
172 |
9.2e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194747
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,766,774 (GRCm39) |
I52T |
probably damaging |
Het |
| Adhfe1 |
G |
A |
1: 9,646,441 (GRCm39) |
R447H |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,676,515 (GRCm39) |
K72E |
probably benign |
Het |
| Best2 |
T |
G |
8: 85,736,353 (GRCm39) |
D270A |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Col18a1 |
T |
C |
10: 76,889,192 (GRCm39) |
M1721V |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,865,000 (GRCm39) |
T39A |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,761,800 (GRCm39) |
M3897L |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Egf |
T |
C |
3: 129,490,509 (GRCm39) |
I395V |
probably null |
Het |
| Fbln5 |
C |
T |
12: 101,717,050 (GRCm39) |
G446D |
probably damaging |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
C |
1: 150,566,361 (GRCm39) |
T2214S |
probably benign |
Het |
| Lef1 |
A |
G |
3: 130,905,290 (GRCm39) |
N57S |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,621,190 (GRCm39) |
S266P |
probably benign |
Het |
| Marveld2 |
T |
C |
13: 100,748,401 (GRCm39) |
Q226R |
probably benign |
Het |
| Mest |
G |
A |
6: 30,742,749 (GRCm39) |
S132N |
probably benign |
Het |
| Mras |
T |
A |
9: 99,293,473 (GRCm39) |
I56F |
probably damaging |
Het |
| Myh13 |
G |
A |
11: 67,220,064 (GRCm39) |
E138K |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,778,799 (GRCm39) |
T516A |
probably damaging |
Het |
| Ola1 |
A |
G |
2: 72,972,683 (GRCm39) |
V200A |
probably benign |
Het |
| Or5ak24 |
A |
T |
2: 85,261,074 (GRCm39) |
V33D |
possibly damaging |
Het |
| Patj |
C |
A |
4: 98,344,455 (GRCm39) |
P20H |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,101 (GRCm39) |
W416R |
probably benign |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
| Ppp1r36 |
G |
A |
12: 76,464,431 (GRCm39) |
V10I |
probably benign |
Het |
| Rnf150 |
C |
T |
8: 83,591,090 (GRCm39) |
T151I |
probably benign |
Het |
| Tank |
G |
T |
2: 61,474,130 (GRCm39) |
|
probably null |
Het |
| Tmprss4 |
C |
T |
9: 45,091,964 (GRCm39) |
V174M |
probably benign |
Het |
| Trappc13 |
T |
C |
13: 104,297,590 (GRCm39) |
T105A |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,838 (GRCm39) |
S1066P |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,846,474 (GRCm39) |
|
probably null |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Zfp51 |
A |
G |
17: 21,683,702 (GRCm39) |
K106E |
probably benign |
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 |
|
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 |
|
|
R6441:Txndc9
|
UTSW |
1 |
38,029,299 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
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'- ATGAAAGCACCTGTGAGCAC -3'
(R):5'- GGCATAGGAAAGCCAACTGC -3'
Sequencing Primer
(F):5'- CATCACCACGCAGGAACATGG -3'
(R):5'- CCAACTGCGGATGGGAAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation