Incidental Mutation 'IGL01286:Txnl4a'
| ID |
72723 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Txnl4a
|
| Ensembl Gene |
ENSMUSG00000057130 |
| Gene Name |
thioredoxin-like 4A |
| Synonyms |
Txnl4, D18Wsu98e, ENSMUSG00000057130, U5-15kDa |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
IGL01286
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
80250041-80269066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80261956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 64
(T64I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025464]
[ENSMUST00000145963]
|
| AlphaFold |
P83877 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025464
AA Change: T64I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000025464
Gene: ENSMUSG00000057130
AA Change: T64I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DIM1
|
4 |
93 |
4.1e-49 |
PFAM |
|
Pfam:Thioredoxin
|
8 |
91 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126360
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130675
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145963
AA Change: T64I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000115320
Gene: ENSMUSG00000057130
AA Change: T64I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DIM1
|
4 |
136 |
3.4e-73 |
PFAM |
|
Pfam:Thioredoxin
|
8 |
109 |
3.6e-8 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,629,578 (GRCm39) |
C214S |
possibly damaging |
Het |
| Ankrd26 |
A |
T |
6: 118,536,068 (GRCm39) |
V122E |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,922,950 (GRCm39) |
K389R |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,848,432 (GRCm39) |
N862I |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,261 (GRCm39) |
Q325L |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,750,235 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
T |
A |
8: 110,949,484 (GRCm39) |
I598N |
possibly damaging |
Het |
| Col1a2 |
A |
C |
6: 4,533,891 (GRCm39) |
E857D |
unknown |
Het |
| Col2a1 |
G |
A |
15: 97,892,759 (GRCm39) |
P237L |
unknown |
Het |
| Commd2 |
G |
A |
3: 57,558,143 (GRCm39) |
T66M |
probably benign |
Het |
| Cyp2c50 |
A |
T |
19: 40,080,728 (GRCm39) |
K241N |
probably benign |
Het |
| Fbxo2 |
A |
G |
4: 148,250,163 (GRCm39) |
N231S |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,251,773 (GRCm39) |
S8P |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,923,082 (GRCm39) |
T405A |
probably benign |
Het |
| Kel |
G |
T |
6: 41,665,051 (GRCm39) |
|
probably null |
Het |
| Lin54 |
T |
C |
5: 100,633,466 (GRCm39) |
T73A |
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,577,250 (GRCm39) |
V1052D |
possibly damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,592 (GRCm39) |
I172K |
probably damaging |
Het |
| Or6c6 |
T |
A |
10: 129,186,519 (GRCm39) |
L29H |
probably damaging |
Het |
| Pcid2 |
T |
C |
8: 13,140,660 (GRCm39) |
D155G |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,357,820 (GRCm39) |
T462A |
possibly damaging |
Het |
| Pxdn |
A |
G |
12: 30,032,753 (GRCm39) |
E179G |
probably benign |
Het |
| Rfc2 |
T |
C |
5: 134,618,243 (GRCm39) |
L82P |
probably damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,272,676 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
T |
3: 72,848,358 (GRCm39) |
W639R |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,384,719 (GRCm39) |
|
probably null |
Het |
| Tert |
G |
A |
13: 73,776,416 (GRCm39) |
R389H |
possibly damaging |
Het |
| Tns3 |
C |
T |
11: 8,442,617 (GRCm39) |
S582N |
probably benign |
Het |
| Tssk2 |
C |
T |
16: 17,716,822 (GRCm39) |
T75I |
probably benign |
Het |
| Xpot |
T |
C |
10: 121,438,243 (GRCm39) |
D782G |
probably benign |
Het |
|
| Other mutations in Txnl4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02349:Txnl4a
|
APN |
18 |
80,261,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1256:Txnl4a
|
UTSW |
18 |
80,250,487 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation