Incidental Mutation 'R1256:Txnl4a'
| ID |
151477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txnl4a
|
| Ensembl Gene |
ENSMUSG00000057130 |
| Gene Name |
thioredoxin-like 4A |
| Synonyms |
Txnl4, D18Wsu98e, ENSMUSG00000057130, U5-15kDa |
| MMRRC Submission |
039323-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R1256 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
80250041-80269066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80250487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 28
(I28V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025463]
[ENSMUST00000025464]
[ENSMUST00000125127]
[ENSMUST00000127234]
[ENSMUST00000145963]
|
| AlphaFold |
P83877 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025463
|
| SMART Domains |
Protein: ENSMUSP00000025463
Gene: ENSMUSG00000024571
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_10
|
32 |
125 |
7.1e-8 |
PFAM |
|
Pfam:Acetyltransf_7
|
40 |
130 |
2e-9 |
PFAM |
|
Pfam:Acetyltransf_1
|
46 |
129 |
6.1e-18 |
PFAM |
|
Pfam:FR47
|
56 |
137 |
2.9e-10 |
PFAM |
|
low complexity region
|
196 |
208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025464
AA Change: I28V
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000025464
Gene: ENSMUSG00000057130
AA Change: I28V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DIM1
|
4 |
93 |
4.1e-49 |
PFAM |
|
Pfam:Thioredoxin
|
8 |
91 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125127
|
| SMART Domains |
Protein: ENSMUSP00000123193
Gene: ENSMUSG00000024571
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_7
|
40 |
129 |
2.3e-9 |
PFAM |
|
Pfam:Acetyltransf_1
|
46 |
129 |
1e-17 |
PFAM |
|
Pfam:FR47
|
56 |
137 |
2.9e-10 |
PFAM |
|
low complexity region
|
196 |
208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126360
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127234
|
| SMART Domains |
Protein: ENSMUSP00000121883
Gene: ENSMUSG00000024571
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_10
|
32 |
125 |
7.1e-8 |
PFAM |
|
Pfam:Acetyltransf_7
|
40 |
130 |
2e-9 |
PFAM |
|
Pfam:Acetyltransf_1
|
46 |
129 |
6.1e-18 |
PFAM |
|
Pfam:FR47
|
56 |
137 |
2.9e-10 |
PFAM |
|
low complexity region
|
196 |
208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145963
AA Change: I28V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000115320
Gene: ENSMUSG00000057130
AA Change: I28V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DIM1
|
4 |
136 |
3.4e-73 |
PFAM |
|
Pfam:Thioredoxin
|
8 |
109 |
3.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145116
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155879
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153363
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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 U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Apaf1 |
A |
G |
10: 90,894,268 (GRCm39) |
Y456H |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,634,442 (GRCm39) |
N791S |
possibly damaging |
Het |
| Brat1 |
A |
G |
5: 140,695,962 (GRCm39) |
Q66R |
possibly damaging |
Het |
| Capn10 |
C |
T |
1: 92,874,668 (GRCm39) |
T633M |
probably damaging |
Het |
| Ccdc186 |
G |
T |
19: 56,786,053 (GRCm39) |
L661I |
probably benign |
Het |
| Cln3 |
A |
G |
7: 126,182,208 (GRCm39) |
S4P |
probably damaging |
Het |
| Cnot10 |
G |
T |
9: 114,439,749 (GRCm39) |
S520Y |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,129,978 (GRCm39) |
F1715I |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,518,789 (GRCm39) |
C545* |
probably null |
Het |
| Hivep1 |
C |
T |
13: 42,335,307 (GRCm39) |
S2282F |
probably damaging |
Het |
| Jag2 |
T |
C |
12: 112,878,039 (GRCm39) |
E564G |
possibly damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,916,262 (GRCm39) |
H308R |
probably damaging |
Het |
| Magi3 |
C |
T |
3: 103,935,126 (GRCm39) |
V936I |
probably benign |
Het |
| Mcu |
G |
T |
10: 59,290,790 (GRCm39) |
A279E |
probably damaging |
Het |
| Msln |
A |
G |
17: 25,973,157 (GRCm39) |
C13R |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,883,883 (GRCm39) |
D714G |
probably benign |
Het |
| Nif3l1 |
T |
A |
1: 58,494,808 (GRCm39) |
V259D |
probably damaging |
Het |
| Or4c127 |
A |
T |
2: 89,832,911 (GRCm39) |
M54L |
possibly damaging |
Het |
| Or5k14 |
A |
C |
16: 58,693,206 (GRCm39) |
Y102* |
probably null |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Pcdhb9 |
A |
G |
18: 37,536,169 (GRCm39) |
D721G |
possibly damaging |
Het |
| Pepd |
A |
C |
7: 34,620,917 (GRCm39) |
T61P |
possibly damaging |
Het |
| Pkd1l2 |
C |
T |
8: 117,746,282 (GRCm39) |
|
probably null |
Het |
| Poglut3 |
A |
C |
9: 53,299,762 (GRCm39) |
R90S |
possibly damaging |
Het |
| Psip1 |
A |
G |
4: 83,392,604 (GRCm39) |
S102P |
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,809,446 (GRCm39) |
E443G |
possibly damaging |
Het |
| Rnf20 |
A |
G |
4: 49,638,230 (GRCm39) |
D114G |
probably benign |
Het |
| Schip1 |
A |
T |
3: 68,402,375 (GRCm39) |
I151F |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,659,373 (GRCm39) |
I888V |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,802,310 (GRCm39) |
T263A |
probably damaging |
Het |
| Spn |
T |
C |
7: 126,735,445 (GRCm39) |
K354R |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,434,573 (GRCm39) |
A1022T |
probably damaging |
Het |
| Strn |
A |
C |
17: 78,972,046 (GRCm39) |
|
probably null |
Het |
| Tstd3 |
T |
C |
4: 21,759,627 (GRCm39) |
I79M |
probably damaging |
Het |
| Uty |
T |
C |
Y: 1,134,884 (GRCm39) |
D928G |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,313,225 (GRCm39) |
L22P |
probably damaging |
Het |
| Vsx2 |
T |
A |
12: 84,623,085 (GRCm39) |
L163Q |
probably damaging |
Het |
|
| Other mutations in Txnl4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01286:Txnl4a
|
APN |
18 |
80,261,956 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02349:Txnl4a
|
APN |
18 |
80,261,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1263:Txnl4a
|
UTSW |
18 |
80,250,536 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1381:Txnl4a
|
UTSW |
18 |
80,250,479 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4165:Txnl4a
|
UTSW |
18 |
80,265,471 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4166:Txnl4a
|
UTSW |
18 |
80,265,471 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4836:Txnl4a
|
UTSW |
18 |
80,265,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Txnl4a
|
UTSW |
18 |
80,250,493 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6026:Txnl4a
|
UTSW |
18 |
80,250,482 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6275:Txnl4a
|
UTSW |
18 |
80,261,980 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8355:Txnl4a
|
UTSW |
18 |
80,250,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8455:Txnl4a
|
UTSW |
18 |
80,250,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9245:Txnl4a
|
UTSW |
18 |
80,261,937 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCACACGAGGTTAGAGGTCGTC -3'
(R):5'- CTGCATGGAACACAGGACTCGG -3'
Sequencing Primer
(F):5'- AGCCGAGGCCCTGTATG -3'
(R):5'- GGCTTGAAATCTGGCGTCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation