Incidental Mutation 'R2308:Txnl1'
| ID |
244690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txnl1
|
| Ensembl Gene |
ENSMUSG00000024583 |
| Gene Name |
thioredoxin-like 1 |
| Synonyms |
TRP32, 32kDa |
| MMRRC Submission |
040307-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.468)
|
| Stock # |
R2308 (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: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Depdc1b |
G |
A |
13: 108,510,375 (GRCm39) |
V296I |
possibly damaging |
Het |
| Dot1l |
T |
C |
10: 80,624,903 (GRCm39) |
S907P |
probably damaging |
Het |
| Epha7 |
G |
A |
4: 28,821,503 (GRCm39) |
E223K |
possibly damaging |
Het |
| Ercc6 |
T |
C |
14: 32,288,366 (GRCm39) |
I846T |
possibly damaging |
Het |
| Exoc4 |
A |
G |
6: 33,895,503 (GRCm39) |
Y840C |
probably damaging |
Het |
| Gramd1a |
T |
C |
7: 30,839,215 (GRCm39) |
D231G |
probably damaging |
Het |
| Mark2 |
A |
C |
19: 7,259,299 (GRCm39) |
S90A |
probably damaging |
Het |
| Mbd1 |
A |
G |
18: 74,409,548 (GRCm39) |
Q432R |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Met |
T |
C |
6: 17,491,741 (GRCm39) |
S168P |
probably benign |
Het |
| Nup210 |
T |
C |
6: 91,017,850 (GRCm39) |
I304V |
probably benign |
Het |
| Or1ak2 |
T |
A |
2: 36,827,312 (GRCm39) |
Y60* |
probably null |
Het |
| Or4a27 |
T |
A |
2: 88,559,428 (GRCm39) |
I172F |
probably damaging |
Het |
| Ppfia4 |
A |
G |
1: 134,260,135 (GRCm39) |
S43P |
possibly damaging |
Het |
| Rbbp8 |
A |
T |
18: 11,829,833 (GRCm39) |
K132I |
possibly damaging |
Het |
| Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
| Slc41a3 |
T |
A |
6: 90,589,102 (GRCm39) |
I71K |
possibly damaging |
Het |
| Spaca7 |
A |
T |
8: 12,648,959 (GRCm39) |
N127I |
probably benign |
Het |
| Stkld1 |
A |
T |
2: 26,842,726 (GRCm39) |
D566V |
probably damaging |
Het |
| Tbxas1 |
A |
G |
6: 39,004,595 (GRCm39) |
M281V |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,688,156 (GRCm39) |
I2385F |
possibly damaging |
Het |
| Vmn2r118 |
A |
G |
17: 55,931,650 (GRCm39) |
I8T |
probably benign |
Het |
| Vmn2r80 |
T |
C |
10: 79,007,455 (GRCm39) |
F477S |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,980,815 (GRCm39) |
E470G |
possibly damaging |
Het |
| Zfp352 |
A |
G |
4: 90,113,480 (GRCm39) |
K540R |
probably benign |
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 |
|
|
R2979: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'- GAGACTTGCAGTGCAGACAG -3'
Sequencing Primer
(F):5'- ACTCCTCACTCAGGTGTATTCAC -3'
(R):5'- CAGGCAGTCTTTTAGGAACACTGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation