Incidental Mutation 'R3702:Tcea1'
ID |
258551 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcea1
|
Ensembl Gene |
ENSMUSG00000033813 |
Gene Name |
transcription elongation factor A (SII) 1 |
Synonyms |
S-II |
MMRRC Submission |
040695-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3702 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
4928037-4968132 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4965158 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 276
(V276A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080266
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081551]
[ENSMUST00000165720]
|
AlphaFold |
P10711 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081551
AA Change: V276A
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000080266 Gene: ENSMUSG00000033813 AA Change: V276A
Domain | Start | End | E-Value | Type |
TFS2N
|
5 |
79 |
2.56e-31 |
SMART |
low complexity region
|
83 |
93 |
N/A |
INTRINSIC |
low complexity region
|
100 |
115 |
N/A |
INTRINSIC |
TFS2M
|
138 |
239 |
1.32e-44 |
SMART |
ZnF_C2C2
|
261 |
300 |
3.6e-21 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165720
AA Change: V287A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000129157 Gene: ENSMUSG00000033813 AA Change: V287A
Domain | Start | End | E-Value | Type |
Pfam:Med26
|
38 |
88 |
1.1e-18 |
PFAM |
low complexity region
|
94 |
104 |
N/A |
INTRINSIC |
low complexity region
|
111 |
126 |
N/A |
INTRINSIC |
TFS2M
|
149 |
250 |
1.32e-44 |
SMART |
ZnF_C2C2
|
272 |
311 |
3.6e-21 |
SMART |
|
Meta Mutation Damage Score |
0.1457 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (38/38) |
MGI Phenotype |
PHENOTYPE: Homozygous null mice display impaired definitive erythropoiesis with loss of late stage erythroblasts, fetal liver hypoplasia, and embryonic lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
C |
T |
11: 110,178,884 (GRCm39) |
|
probably null |
Het |
Aopep |
A |
T |
13: 63,163,144 (GRCm39) |
N55I |
probably benign |
Het |
Cacna1a |
T |
G |
8: 85,344,475 (GRCm39) |
S1846A |
probably damaging |
Het |
Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
Calhm3 |
T |
A |
19: 47,140,187 (GRCm39) |
D302V |
possibly damaging |
Het |
Cluh |
A |
G |
11: 74,556,182 (GRCm39) |
M878V |
probably benign |
Het |
Col24a1 |
C |
T |
3: 145,043,621 (GRCm39) |
H603Y |
probably benign |
Het |
Commd1 |
T |
A |
11: 22,924,057 (GRCm39) |
L277H |
probably damaging |
Het |
Cpped1 |
G |
T |
16: 11,646,304 (GRCm39) |
D135E |
probably damaging |
Het |
Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
Elfn1 |
A |
G |
5: 139,958,114 (GRCm39) |
T373A |
probably benign |
Het |
Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
Fcgbpl1 |
G |
A |
7: 27,857,203 (GRCm39) |
V2184M |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Grik4 |
T |
C |
9: 42,586,514 (GRCm39) |
K114E |
probably damaging |
Het |
Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
C |
A |
10: 127,430,972 (GRCm39) |
R359L |
probably damaging |
Het |
Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
Mtmr10 |
T |
C |
7: 63,987,647 (GRCm39) |
L729P |
probably damaging |
Het |
Myot |
T |
A |
18: 44,487,162 (GRCm39) |
|
probably null |
Het |
Obox2 |
G |
T |
7: 15,130,882 (GRCm39) |
R38L |
probably benign |
Het |
Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
Pcdha3 |
A |
G |
18: 37,080,401 (GRCm39) |
Q381R |
probably benign |
Het |
Pip4k2b |
A |
G |
11: 97,620,374 (GRCm39) |
|
probably benign |
Het |
Ppig |
T |
A |
2: 69,563,553 (GRCm39) |
S89T |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,156,235 (GRCm39) |
D47G |
probably damaging |
Het |
Sh2b2 |
A |
G |
5: 136,253,087 (GRCm39) |
S362P |
probably damaging |
Het |
Snap91 |
G |
A |
9: 86,688,573 (GRCm39) |
T322I |
probably damaging |
Het |
Taf3 |
G |
A |
2: 9,957,372 (GRCm39) |
T112I |
possibly damaging |
Het |
Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
Tomm40 |
G |
T |
7: 19,447,598 (GRCm39) |
T144K |
possibly damaging |
Het |
Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
Zfp326 |
A |
G |
5: 106,036,709 (GRCm39) |
|
probably null |
Het |
Zfp647 |
G |
A |
15: 76,795,110 (GRCm39) |
R517W |
probably damaging |
Het |
|
Other mutations in Tcea1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02354:Tcea1
|
APN |
1 |
4,966,570 (GRCm39) |
splice site |
probably benign |
|
IGL02361:Tcea1
|
APN |
1 |
4,966,570 (GRCm39) |
splice site |
probably benign |
|
IGL02367:Tcea1
|
APN |
1 |
4,948,356 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02813:Tcea1
|
APN |
1 |
4,956,979 (GRCm39) |
missense |
probably benign |
0.06 |
R0403:Tcea1
|
UTSW |
1 |
4,959,726 (GRCm39) |
missense |
probably benign |
|
R0707:Tcea1
|
UTSW |
1 |
4,950,569 (GRCm39) |
intron |
probably benign |
|
R1157:Tcea1
|
UTSW |
1 |
4,959,670 (GRCm39) |
splice site |
probably null |
|
R4541:Tcea1
|
UTSW |
1 |
4,963,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R4764:Tcea1
|
UTSW |
1 |
4,965,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R5428:Tcea1
|
UTSW |
1 |
4,950,568 (GRCm39) |
intron |
probably benign |
|
R6005:Tcea1
|
UTSW |
1 |
4,960,996 (GRCm39) |
missense |
probably benign |
0.03 |
R6661:Tcea1
|
UTSW |
1 |
4,928,652 (GRCm39) |
intron |
probably benign |
|
R6792:Tcea1
|
UTSW |
1 |
4,962,268 (GRCm39) |
missense |
probably benign |
0.00 |
R7215:Tcea1
|
UTSW |
1 |
4,937,706 (GRCm39) |
missense |
probably damaging |
0.98 |
R7557:Tcea1
|
UTSW |
1 |
4,965,213 (GRCm39) |
nonsense |
probably null |
|
R7635:Tcea1
|
UTSW |
1 |
4,959,774 (GRCm39) |
missense |
probably benign |
0.01 |
R8033:Tcea1
|
UTSW |
1 |
4,962,141 (GRCm39) |
missense |
probably damaging |
0.98 |
R8955:Tcea1
|
UTSW |
1 |
4,959,732 (GRCm39) |
missense |
probably benign |
0.00 |
R9397:Tcea1
|
UTSW |
1 |
4,962,141 (GRCm39) |
missense |
probably damaging |
0.98 |
R9578:Tcea1
|
UTSW |
1 |
4,961,021 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Tcea1
|
UTSW |
1 |
4,928,200 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTGGATAAATTACACATGAAGGAC -3'
(R):5'- GCATAAACTTGCTTGTATGAGACG -3'
Sequencing Primer
(F):5'- TTACACATGAAGGACAACAGAATAAG -3'
(R):5'- TGTTTACTGAAAAGCTACAAACCC -3'
|
Posted On |
2015-01-23 |