Incidental Mutation 'R3897:Tra2a'
| ID |
309010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tra2a
|
| Ensembl Gene |
ENSMUSG00000029817 |
| Gene Name |
transformer 2 alpha |
| Synonyms |
mAWMS1, G430041M01Rik, 1500010G04Rik |
| MMRRC Submission |
040808-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.789)
|
| Stock # |
R3897 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
49220858-49240967 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to C
at 49222476 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: D235G
|
| SMART Domains |
Protein: ENSMUSP00000031841
Gene: ENSMUSG00000029817
AA Change: D235G
| 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: D235G
|
| SMART Domains |
Protein: ENSMUSP00000145039
Gene: ENSMUSG00000029817
AA Change: D235G
| 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
|
| Meta Mutation Damage Score |
0.0732 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (35/36) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,254,245 (GRCm39) |
H184R |
probably benign |
Het |
| Ap1g1 |
A |
G |
8: 110,581,631 (GRCm39) |
D633G |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,093,084 (GRCm39) |
R999H |
probably damaging |
Het |
| Armc3 |
T |
C |
2: 19,273,988 (GRCm39) |
S341P |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,233,189 (GRCm39) |
E633G |
possibly damaging |
Het |
| Colgalt1 |
G |
A |
8: 72,072,306 (GRCm39) |
M275I |
probably damaging |
Het |
| Commd7 |
T |
C |
2: 153,464,710 (GRCm39) |
T23A |
probably benign |
Het |
| Cts3 |
A |
G |
13: 61,712,800 (GRCm39) |
Y307H |
probably benign |
Het |
| Dlgap4 |
C |
A |
2: 156,587,989 (GRCm39) |
P89Q |
probably damaging |
Het |
| Ecm1 |
A |
G |
3: 95,643,298 (GRCm39) |
L334P |
probably damaging |
Het |
| Fzd8 |
G |
A |
18: 9,214,939 (GRCm39) |
V674I |
possibly damaging |
Het |
| Gosr2 |
A |
G |
11: 103,588,472 (GRCm39) |
Y5H |
possibly damaging |
Het |
| Gria4 |
T |
A |
9: 4,513,260 (GRCm39) |
D283V |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Iqcm |
C |
T |
8: 76,480,028 (GRCm39) |
R329C |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,703,955 (GRCm39) |
C233R |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,581,011 (GRCm39) |
C391R |
probably damaging |
Het |
| Man2b1 |
G |
T |
8: 85,823,577 (GRCm39) |
|
probably benign |
Het |
| Mgat4f |
A |
G |
1: 134,318,176 (GRCm39) |
D316G |
possibly damaging |
Het |
| Nisch |
A |
G |
14: 30,912,957 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
G |
19: 6,569,287 (GRCm39) |
D1394E |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,153 (GRCm39) |
E102G |
probably benign |
Het |
| Or4k77 |
T |
C |
2: 111,199,106 (GRCm39) |
L43P |
possibly damaging |
Het |
| Pabpc6 |
T |
C |
17: 9,888,056 (GRCm39) |
D165G |
probably benign |
Het |
| Psat1 |
A |
G |
19: 15,896,817 (GRCm39) |
|
probably null |
Het |
| Psd |
A |
C |
19: 46,313,024 (GRCm39) |
N115K |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rnf144a |
A |
G |
12: 26,360,712 (GRCm39) |
V275A |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,118,739 (GRCm39) |
F356L |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,087 (GRCm39) |
V364A |
probably benign |
Het |
| Tmem203 |
T |
C |
2: 25,145,935 (GRCm39) |
F85S |
probably benign |
Het |
| Ttc21b |
C |
T |
2: 66,065,413 (GRCm39) |
E454K |
probably benign |
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 |
|
|
R4488:Tra2a
|
UTSW |
6 |
49,229,428 (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'- GTTTCTCAAACAACCGGCAC -3'
(R):5'- ACCATAGGCATTGGCAAAGTG -3'
Sequencing Primer
(F):5'- ACCCAGCTACCAGACCTG -3'
(R):5'- CATTGGCAAAGTGAGGTGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation