Incidental Mutation 'R4165:Txnl4a'
| ID |
321715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Txnl4a
|
| Ensembl Gene |
ENSMUSG00000057130 |
| Gene Name |
thioredoxin-like 4A |
| Synonyms |
Txnl4, D18Wsu98e, ENSMUSG00000057130, U5-15kDa |
| MMRRC Submission |
041007-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R4165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
80250041-80269066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80265471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 112
(M112K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025464]
[ENSMUST00000145963]
|
| AlphaFold |
P83877 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025464
|
| SMART Domains |
Protein: ENSMUSP00000025464
Gene: ENSMUSG00000057130
| 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: M112K
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000115320
Gene: ENSMUSG00000057130
AA Change: M112K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DIM1
|
4 |
136 |
3.4e-73 |
PFAM |
|
Pfam:Thioredoxin
|
8 |
109 |
3.6e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.9019 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
97% (38/39) |
| 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 |
|---|
| Aak1 |
T |
A |
6: 86,827,044 (GRCm39) |
F4I |
probably damaging |
Het |
| Adamts8 |
G |
T |
9: 30,862,684 (GRCm39) |
E296D |
probably benign |
Het |
| Alg11 |
T |
C |
8: 22,555,573 (GRCm39) |
V278A |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Avil |
C |
T |
10: 126,842,496 (GRCm39) |
Q92* |
probably null |
Het |
| Cfap300 |
A |
T |
9: 8,026,071 (GRCm39) |
L167Q |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,864,522 (GRCm39) |
S36T |
possibly damaging |
Het |
| Epb41l3 |
T |
C |
17: 69,514,883 (GRCm39) |
S7P |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,195,608 (GRCm39) |
T434A |
probably damaging |
Het |
| Gm5174 |
A |
G |
10: 86,492,797 (GRCm39) |
|
noncoding transcript |
Het |
| Gpaa1 |
A |
C |
15: 76,216,667 (GRCm39) |
|
probably benign |
Het |
| Grina |
T |
A |
15: 76,133,529 (GRCm39) |
L334Q |
probably damaging |
Het |
| Gvin-ps5 |
T |
A |
7: 105,929,895 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv15-103 |
G |
T |
6: 68,414,824 (GRCm39) |
G88* |
probably null |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,928,797 (GRCm39) |
I183F |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,432,066 (GRCm39) |
|
probably null |
Het |
| Larp7 |
A |
G |
3: 127,330,611 (GRCm39) |
Y569H |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,460,025 (GRCm39) |
I758F |
probably damaging |
Het |
| Nr1d2 |
T |
C |
14: 18,215,446 (GRCm38) |
I189V |
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,217,008 (GRCm39) |
I668K |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,632,243 (GRCm39) |
N679K |
probably benign |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Prap1 |
T |
A |
7: 139,676,091 (GRCm39) |
V35E |
probably benign |
Het |
| Prdm1 |
T |
A |
10: 44,317,572 (GRCm39) |
Y417F |
probably benign |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rps3 |
T |
C |
7: 99,132,816 (GRCm39) |
I5V |
probably benign |
Het |
| Sema3a |
A |
T |
5: 13,523,364 (GRCm39) |
|
probably null |
Het |
| Serpina3g |
A |
T |
12: 104,206,546 (GRCm39) |
T116S |
probably benign |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc22a28 |
A |
G |
19: 8,040,773 (GRCm39) |
S493P |
possibly damaging |
Het |
| Snapc1 |
G |
T |
12: 74,029,354 (GRCm39) |
|
probably null |
Het |
| Sobp |
C |
T |
10: 42,897,644 (GRCm39) |
G647D |
probably damaging |
Het |
| Tomm22 |
C |
A |
15: 79,555,206 (GRCm39) |
|
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,978,003 (GRCm39) |
|
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,427 (GRCm39) |
F61L |
possibly damaging |
Het |
| Zfp709 |
C |
T |
8: 72,644,649 (GRCm39) |
Q693* |
probably null |
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 |
|
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'- CCCTTAAATGACATTCTAGGTGC -3'
(R):5'- TTGCTCCAGCTAGCTAAGGC -3'
Sequencing Primer
(F):5'- TGACATTCTAGGTGCTTAGAACAGAG -3'
(R):5'- TCTACAGCAATGTCGGGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation