Incidental Mutation 'R8355:Txnl4a'
| ID |
645746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txnl4a
|
| Ensembl Gene |
ENSMUSG00000057130 |
| Gene Name |
thioredoxin-like 4A |
| Synonyms |
Txnl4, D18Wsu98e, ENSMUSG00000057130, U5-15kDa |
| MMRRC Submission |
067869-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R8355 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
80250041-80269066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80250539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 45
(L45Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115320
(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 damaging
Transcript: ENSMUST00000025464
AA Change: L45Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025464
Gene: ENSMUSG00000057130
AA Change: L45Q
| 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 |
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 damaging
Transcript: ENSMUST00000145963
AA Change: L45Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115320
Gene: ENSMUSG00000057130
AA Change: L45Q
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
G |
9: 104,204,174 (GRCm39) |
V40A |
possibly damaging |
Het |
| Adgra1 |
T |
A |
7: 139,455,567 (GRCm39) |
C398* |
probably null |
Het |
| Amy2a1 |
T |
A |
3: 113,324,045 (GRCm39) |
D165V |
probably benign |
Het |
| Atf6b |
A |
G |
17: 34,867,197 (GRCm39) |
D63G |
probably benign |
Het |
| BC024139 |
T |
C |
15: 76,004,007 (GRCm39) |
D753G |
probably benign |
Het |
| Dnah3 |
T |
G |
7: 119,551,431 (GRCm39) |
T2963P |
probably damaging |
Het |
| Fanci |
G |
T |
7: 79,085,029 (GRCm39) |
L818F |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gm4559 |
C |
A |
7: 141,827,694 (GRCm39) |
C136F |
unknown |
Het |
| Gm45844 |
G |
A |
7: 7,281,221 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
T |
A |
5: 25,559,499 (GRCm39) |
|
probably null |
Het |
| Lpo |
G |
A |
11: 87,705,114 (GRCm39) |
L407F |
probably damaging |
Het |
| Mus81 |
T |
C |
19: 5,534,220 (GRCm39) |
Y366C |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,364,528 (GRCm39) |
D1292G |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,132,800 (GRCm39) |
I309N |
probably damaging |
Het |
| Nufip2 |
C |
T |
11: 77,583,259 (GRCm39) |
T391I |
probably damaging |
Het |
| Or5g25 |
T |
A |
2: 85,478,485 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or7e177 |
A |
G |
9: 20,211,715 (GRCm39) |
Y74C |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,224,069 (GRCm39) |
V935E |
probably damaging |
Het |
| Rusc2 |
A |
G |
4: 43,422,846 (GRCm39) |
I994M |
probably benign |
Het |
| Sgcz |
T |
C |
8: 38,190,239 (GRCm39) |
I96V |
probably benign |
Het |
| Tmem108 |
A |
G |
9: 103,377,069 (GRCm39) |
S127P |
possibly damaging |
Het |
| Tmem178b |
G |
A |
6: 40,231,869 (GRCm39) |
V168I |
unknown |
Het |
| Tut1 |
T |
C |
19: 8,936,626 (GRCm39) |
V150A |
probably benign |
Het |
| V1ra8 |
C |
T |
6: 90,180,447 (GRCm39) |
R217W |
probably damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,352 (GRCm39) |
T255A |
probably benign |
Het |
| Zfp605 |
A |
G |
5: 110,259,848 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- ACGAGGTTAGAGGTCGTCTG -3'
(R):5'- GACCTATCTCGGACCATCCATC -3'
Sequencing Primer
(F):5'- ATGGGGTCGCGATCCTCTG -3'
(R):5'- GGACCATCCATCCCCTTCCG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation