Incidental Mutation 'R1157:Tcea1'
| ID |
101759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcea1
|
| Ensembl Gene |
ENSMUSG00000033813 |
| Gene Name |
transcription elongation factor A (SII) 1 |
| Synonyms |
S-II |
| MMRRC Submission |
039230-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1157 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
4928037-4968132 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 4959670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081551]
[ENSMUST00000155020]
[ENSMUST00000165720]
|
| AlphaFold |
P10711 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081551
|
| SMART Domains |
Protein: ENSMUSP00000080266
Gene: ENSMUSG00000033813
| 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: ENSMUST00000155020
|
| SMART Domains |
Protein: ENSMUSP00000136108
Gene: ENSMUSG00000104217
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000165720
|
| SMART Domains |
Protein: ENSMUSP00000129157
Gene: ENSMUSG00000033813
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
C |
A |
3: 95,590,971 (GRCm39) |
S332I |
possibly damaging |
Het |
| Alpl |
A |
G |
4: 137,481,331 (GRCm39) |
V107A |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,976,349 (GRCm39) |
F442L |
probably damaging |
Het |
| Cachd1 |
T |
A |
4: 100,832,037 (GRCm39) |
M733K |
possibly damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,390,650 (GRCm39) |
C1061S |
probably benign |
Het |
| Crispld1 |
G |
A |
1: 17,815,587 (GRCm39) |
V90M |
possibly damaging |
Het |
| Ergic1 |
T |
A |
17: 26,833,369 (GRCm39) |
L41Q |
probably damaging |
Het |
| Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
| Gas2l2 |
G |
A |
11: 83,314,154 (GRCm39) |
P386L |
probably benign |
Het |
| Gm21726 |
T |
C |
13: 90,731,724 (GRCm39) |
|
noncoding transcript |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Iqsec1 |
A |
G |
6: 90,646,366 (GRCm39) |
V771A |
possibly damaging |
Het |
| Klhl29 |
T |
C |
12: 5,140,650 (GRCm39) |
N664S |
possibly damaging |
Het |
| Krit1 |
T |
C |
5: 3,882,176 (GRCm39) |
Y659H |
probably damaging |
Het |
| Lap3 |
T |
A |
5: 45,664,490 (GRCm39) |
D373E |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,865,892 (GRCm39) |
I1283T |
probably damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,912,031 (GRCm39) |
Y1843C |
probably benign |
Het |
| Mapre1 |
T |
A |
2: 153,599,937 (GRCm39) |
D120E |
probably benign |
Het |
| Mgp |
A |
T |
6: 136,850,204 (GRCm39) |
M44K |
possibly damaging |
Het |
| Mrps25 |
A |
T |
6: 92,160,947 (GRCm39) |
M3K |
probably damaging |
Het |
| Myo3a |
G |
T |
2: 22,434,456 (GRCm39) |
|
probably null |
Het |
| Nedd9 |
C |
T |
13: 41,467,979 (GRCm39) |
|
probably null |
Het |
| Or52e4 |
A |
G |
7: 104,706,091 (GRCm39) |
I213V |
probably benign |
Het |
| Or6c8b |
T |
G |
10: 128,882,027 (GRCm39) |
T302P |
probably benign |
Het |
| Or7c19 |
G |
T |
8: 85,957,889 (GRCm39) |
C255F |
probably damaging |
Het |
| Pate12 |
G |
A |
9: 36,344,143 (GRCm39) |
C42Y |
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pigs |
T |
C |
11: 78,219,820 (GRCm39) |
V65A |
possibly damaging |
Het |
| Pip5k1a |
G |
A |
3: 94,985,423 (GRCm39) |
T60I |
probably benign |
Het |
| Rp9 |
A |
T |
9: 22,370,036 (GRCm39) |
Y44N |
probably damaging |
Het |
| Trim33 |
C |
T |
3: 103,261,146 (GRCm39) |
T1098I |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,529,314 (GRCm39) |
I263F |
possibly damaging |
Het |
| Wdr12 |
A |
T |
1: 60,117,389 (GRCm39) |
S402R |
probably damaging |
Het |
| Zfp619 |
A |
G |
7: 39,186,282 (GRCm39) |
S771G |
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 |
|
|
R3702:Tcea1
|
UTSW |
1 |
4,965,158 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation