Incidental Mutation 'R4488:Tra2a'
| ID |
330591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tra2a
|
| Ensembl Gene |
ENSMUSG00000029817 |
| Gene Name |
transformer 2 alpha |
| Synonyms |
mAWMS1, G430041M01Rik, 1500010G04Rik |
| MMRRC Submission |
041744-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.740)
|
| Stock # |
R4488 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
49220858-49240967 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to G
at 49229428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031841]
[ENSMUST00000203820]
[ENSMUST00000204189]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000031841
AA Change: S20P
|
| SMART Domains |
Protein: ENSMUSP00000031841
Gene: ENSMUSG00000029817
AA Change: S20P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
106 |
N/A |
INTRINSIC |
|
RRM
|
118 |
191 |
4.12e-25 |
SMART |
|
low complexity region
|
213 |
282 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203820
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000204189
AA Change: S20P
|
| SMART Domains |
Protein: ENSMUSP00000145039
Gene: ENSMUSG00000029817
AA Change: S20P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
106 |
N/A |
INTRINSIC |
|
RRM
|
118 |
191 |
1.8e-27 |
SMART |
|
low complexity region
|
214 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204818
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204899
|
| Meta Mutation Damage Score |
0.0736 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the transformer 2 homolog family and encodes a protein with several RRM (RNA recognition motif) domains. This phosphorylated nuclear protein binds to specific RNA sequences and plays a role in the regulation of pre-mRNA splicing. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkal1 |
A |
T |
1: 6,429,631 (GRCm39) |
Q26L |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
| Brox |
A |
G |
1: 183,062,514 (GRCm39) |
L280S |
probably benign |
Het |
| Cep41 |
A |
T |
6: 30,655,688 (GRCm39) |
|
probably benign |
Het |
| Cryz |
C |
A |
3: 154,324,094 (GRCm39) |
|
probably benign |
Het |
| Cyp26c1 |
T |
C |
19: 37,681,658 (GRCm39) |
V487A |
probably benign |
Het |
| Dlx6 |
T |
C |
6: 6,867,207 (GRCm39) |
M270T |
probably damaging |
Het |
| Glb1 |
T |
C |
9: 114,272,182 (GRCm39) |
I273T |
probably damaging |
Het |
| Glp1r |
A |
C |
17: 31,137,905 (GRCm39) |
H112P |
probably benign |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,556 (GRCm39) |
V175A |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,299,400 (GRCm39) |
T1878I |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,249,396 (GRCm39) |
F1303L |
possibly damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nutf2 |
T |
A |
8: 106,603,059 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Rbm45 |
T |
C |
2: 76,206,740 (GRCm39) |
S251P |
probably damaging |
Het |
| Rnaset2b |
A |
G |
17: 7,265,469 (GRCm39) |
Y155C |
probably damaging |
Het |
| Rnf122 |
A |
G |
8: 31,618,283 (GRCm39) |
T92A |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,347,011 (GRCm39) |
S134P |
probably damaging |
Het |
| Shprh |
A |
T |
10: 11,036,215 (GRCm39) |
I351F |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Sulf1 |
G |
T |
1: 12,856,739 (GRCm39) |
|
probably benign |
Het |
| Svil |
T |
C |
18: 5,049,067 (GRCm39) |
Y202H |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,737,993 (GRCm39) |
D681G |
possibly damaging |
Het |
| Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,799,819 (GRCm39) |
I841N |
probably damaging |
Het |
| Zfp949 |
T |
C |
9: 88,452,142 (GRCm39) |
S571P |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,431 (GRCm39) |
E571G |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,824,960 (GRCm39) |
T174I |
probably damaging |
Het |
|
| Other mutations in Tra2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02061:Tra2a
|
APN |
6 |
49,226,032 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03160:Tra2a
|
APN |
6 |
49,240,798 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03246:Tra2a
|
APN |
6 |
49,226,019 (GRCm39) |
nonsense |
probably null |
|
|
IGL03098:Tra2a
|
UTSW |
6 |
49,225,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Tra2a
|
UTSW |
6 |
49,227,889 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0544:Tra2a
|
UTSW |
6 |
49,227,885 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1634:Tra2a
|
UTSW |
6 |
49,227,891 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2174:Tra2a
|
UTSW |
6 |
49,227,861 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2571:Tra2a
|
UTSW |
6 |
49,229,421 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3154:Tra2a
|
UTSW |
6 |
49,222,446 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3897:Tra2a
|
UTSW |
6 |
49,222,476 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5358:Tra2a
|
UTSW |
6 |
49,227,949 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6045:Tra2a
|
UTSW |
6 |
49,229,398 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7303:Tra2a
|
UTSW |
6 |
49,227,921 (GRCm39) |
missense |
unknown |
|
|
R7450:Tra2a
|
UTSW |
6 |
49,227,919 (GRCm39) |
nonsense |
probably null |
|
|
X0026:Tra2a
|
UTSW |
6 |
49,229,326 (GRCm39) |
utr 3 prime |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTAAAGGTCTGAGCAGATGGTG -3'
(R):5'- GACAGTTAGCAGTATTAACAATGGG -3'
Sequencing Primer
(F):5'- GGTGAACTTTCTGTGTGAAATACAGC -3'
(R):5'- GGTGTTGCCTAACCATTTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation