Incidental Mutation 'R2979:Txnl1'
| ID |
257051 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txnl1
|
| Ensembl Gene |
ENSMUSG00000024583 |
| Gene Name |
thioredoxin-like 1 |
| Synonyms |
TRP32, 32kDa |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R2979 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
63795872-63825535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63804691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 268
(T268A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025476]
|
| AlphaFold |
Q8CDN6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025476
AA Change: T268A
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025476
Gene: ENSMUSG00000024583
AA Change: T268A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
6 |
106 |
5.8e-19 |
PFAM |
|
Pfam:PITH
|
126 |
268 |
1.8e-44 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
A |
G |
5: 90,670,022 (GRCm39) |
I48V |
probably benign |
Het |
| Arhgef1 |
A |
G |
7: 24,607,176 (GRCm39) |
E16G |
unknown |
Het |
| Cps1 |
T |
C |
1: 67,243,863 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
T |
C |
11: 66,008,414 (GRCm39) |
K804E |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm18025 |
G |
T |
12: 34,340,970 (GRCm39) |
P41Q |
probably damaging |
Het |
| Kdm4c |
A |
T |
4: 74,291,965 (GRCm39) |
R861* |
probably null |
Het |
| Klhl2 |
C |
T |
8: 65,275,730 (GRCm39) |
V58I |
probably damaging |
Het |
| Msl1 |
G |
A |
11: 98,691,050 (GRCm39) |
G178E |
possibly damaging |
Het |
| Nacad |
T |
A |
11: 6,551,424 (GRCm39) |
Q589L |
probably benign |
Het |
| Pros1 |
A |
G |
16: 62,734,229 (GRCm39) |
D345G |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,122,556 (GRCm39) |
Y439C |
probably damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,051,995 (GRCm39) |
M376K |
probably benign |
Het |
| Srd5a1 |
T |
C |
13: 69,748,418 (GRCm39) |
Q127R |
probably damaging |
Het |
| Synm |
T |
G |
7: 67,386,008 (GRCm39) |
R551S |
probably damaging |
Het |
| Trmt1 |
A |
G |
8: 85,423,511 (GRCm39) |
Y301C |
probably damaging |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Zbbx |
C |
A |
3: 74,985,793 (GRCm39) |
E420* |
probably null |
Het |
| Zc3h7a |
A |
T |
16: 10,976,837 (GRCm39) |
V153E |
probably damaging |
Het |
|
| Other mutations in Txnl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01637:Txnl1
|
APN |
18 |
63,807,262 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02380:Txnl1
|
APN |
18 |
63,807,114 (GRCm39) |
splice site |
probably null |
|
|
R0631:Txnl1
|
UTSW |
18 |
63,804,644 (GRCm39) |
splice site |
probably benign |
|
|
R0638:Txnl1
|
UTSW |
18 |
63,825,135 (GRCm39) |
splice site |
probably benign |
|
|
R0948:Txnl1
|
UTSW |
18 |
63,825,191 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1233:Txnl1
|
UTSW |
18 |
63,808,539 (GRCm39) |
missense |
probably benign |
|
|
R1990:Txnl1
|
UTSW |
18 |
63,812,585 (GRCm39) |
missense |
probably benign |
|
|
R1991:Txnl1
|
UTSW |
18 |
63,812,585 (GRCm39) |
missense |
probably benign |
|
|
R1992:Txnl1
|
UTSW |
18 |
63,812,585 (GRCm39) |
missense |
probably benign |
|
|
R2308:Txnl1
|
UTSW |
18 |
63,804,691 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4321:Txnl1
|
UTSW |
18 |
63,812,561 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4352:Txnl1
|
UTSW |
18 |
63,804,750 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4691:Txnl1
|
UTSW |
18 |
63,804,750 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5218:Txnl1
|
UTSW |
18 |
63,812,538 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5471:Txnl1
|
UTSW |
18 |
63,809,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Txnl1
|
UTSW |
18 |
63,797,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7174:Txnl1
|
UTSW |
18 |
63,804,667 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9273:Txnl1
|
UTSW |
18 |
63,825,325 (GRCm39) |
start gained |
probably benign |
|
|
R9308:Txnl1
|
UTSW |
18 |
63,812,446 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9461:Txnl1
|
UTSW |
18 |
63,810,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Txnl1
|
UTSW |
18 |
63,807,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTATCATTACTCCTCACTCAGGTG -3'
(R):5'- GGCAGTCTTTTAGGAACACTGC -3'
Sequencing Primer
(F):5'- ACTCCTCACTCAGGTGTATTCAC -3'
(R):5'- CAGTCTTTTAGGAACACTGCTGTAAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation