Incidental Mutation 'R4173:Txnl4b'
| ID |
318207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txnl4b
|
| Ensembl Gene |
ENSMUSG00000031723 |
| Gene Name |
thioredoxin-like 4B |
| Synonyms |
Dim2, D530025J19Rik |
| MMRRC Submission |
041012-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R4173 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
110292524-110300683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110295706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 37
(V37I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034159]
[ENSMUST00000042601]
[ENSMUST00000178445]
|
| AlphaFold |
Q8BUH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034159
AA Change: V37I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000034159
Gene: ENSMUSG00000031723
AA Change: V37I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DIM1
|
4 |
136 |
1.6e-58 |
PFAM |
|
Pfam:Thioredoxin
|
6 |
109 |
3.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042601
|
| SMART Domains |
Protein: ENSMUSP00000047865
Gene: ENSMUSG00000037993
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
3 |
146 |
2e-46 |
BLAST |
|
low complexity region
|
147 |
204 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
205 |
444 |
1e-105 |
BLAST |
|
low complexity region
|
511 |
525 |
N/A |
INTRINSIC |
|
DEXDc
|
531 |
715 |
6.88e-34 |
SMART |
|
HELICc
|
759 |
862 |
1.11e-19 |
SMART |
|
HA2
|
923 |
1013 |
3.22e-32 |
SMART |
|
low complexity region
|
1163 |
1194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178445
AA Change: V37I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000137524
Gene: ENSMUSG00000031723
AA Change: V37I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DIM1
|
4 |
136 |
1.2e-58 |
PFAM |
|
Pfam:Thioredoxin
|
6 |
110 |
2.2e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
| Cdk1 |
T |
C |
10: 69,180,991 (GRCm39) |
D73G |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,795,214 (GRCm39) |
E983G |
probably damaging |
Het |
| Gnmt |
A |
G |
17: 47,037,047 (GRCm39) |
V217A |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,153,540 (GRCm39) |
E142G |
probably damaging |
Het |
| Nr1h5 |
C |
T |
3: 102,859,546 (GRCm39) |
R171H |
probably damaging |
Het |
| Opcml |
C |
T |
9: 28,814,654 (GRCm39) |
T302I |
probably benign |
Het |
| Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,145,676 (GRCm39) |
V589A |
probably damaging |
Het |
| Pigl |
T |
A |
11: 62,349,337 (GRCm39) |
F18I |
probably benign |
Het |
| Pip4k2b |
T |
C |
11: 97,613,201 (GRCm39) |
K265R |
probably benign |
Het |
| Rora |
C |
A |
9: 68,561,192 (GRCm39) |
T35K |
probably benign |
Het |
| Serpinb9e |
A |
G |
13: 33,439,141 (GRCm39) |
N189S |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc25a45 |
C |
A |
19: 5,930,611 (GRCm39) |
Y99* |
probably null |
Het |
| Smgc |
T |
C |
15: 91,744,759 (GRCm39) |
S655P |
possibly damaging |
Het |
| Thbs2 |
A |
C |
17: 14,901,893 (GRCm39) |
|
probably null |
Het |
| Timd2 |
T |
C |
11: 46,561,787 (GRCm39) |
T286A |
probably benign |
Het |
| Trav6d-3 |
A |
G |
14: 52,962,806 (GRCm39) |
I14M |
probably benign |
Het |
| Trim28 |
A |
G |
7: 12,763,805 (GRCm39) |
D622G |
probably benign |
Het |
| Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
| Vps13c |
A |
G |
9: 67,843,595 (GRCm39) |
N1959D |
probably benign |
Het |
| Xkr4 |
A |
G |
1: 3,286,711 (GRCm39) |
F493S |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,889,612 (GRCm39) |
V665A |
probably damaging |
Het |
|
| Other mutations in Txnl4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00949:Txnl4b
|
APN |
8 |
110,295,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02817:Txnl4b
|
APN |
8 |
110,299,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
rumpled
|
UTSW |
8 |
110,295,735 (GRCm39) |
splice site |
probably null |
|
|
R0504:Txnl4b
|
UTSW |
8 |
110,298,103 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2233:Txnl4b
|
UTSW |
8 |
110,295,551 (GRCm39) |
start gained |
probably benign |
|
|
R3785:Txnl4b
|
UTSW |
8 |
110,299,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3787:Txnl4b
|
UTSW |
8 |
110,299,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6278:Txnl4b
|
UTSW |
8 |
110,295,735 (GRCm39) |
splice site |
probably null |
|
|
R8463:Txnl4b
|
UTSW |
8 |
110,299,430 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8895:Txnl4b
|
UTSW |
8 |
110,299,467 (GRCm39) |
nonsense |
probably null |
|
|
R9314:Txnl4b
|
UTSW |
8 |
110,299,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCAGTGTCTGGTCACTAC -3'
(R):5'- GTCTGTTTGGGCCTCAGATC -3'
Sequencing Primer
(F):5'- CTCAGTGTCTGGTCACTACTAAATGG -3'
(R):5'- TTTGGGCCTCAGATCAGGACAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation