Incidental Mutation 'IGL02813:Tcea1'
| ID |
360669 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tcea1
|
| Ensembl Gene |
ENSMUSG00000033813 |
| Gene Name |
transcription elongation factor A (SII) 1 |
| Synonyms |
S-II |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02813
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
4928037-4968132 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4956979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 93
(T93I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081551]
[ENSMUST00000155020]
[ENSMUST00000165720]
|
| AlphaFold |
P10711 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081551
AA Change: T82I
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000080266
Gene: ENSMUSG00000033813
AA Change: T82I
| 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 benign
Transcript: ENSMUST00000165720
AA Change: T93I
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129157
Gene: ENSMUSG00000033813
AA Change: T93I
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
C |
A |
11: 7,096,591 (GRCm39) |
Q660K |
possibly damaging |
Het |
| Arhgap5 |
A |
C |
12: 52,563,748 (GRCm39) |
T240P |
probably benign |
Het |
| Arhgef7 |
C |
T |
8: 11,850,767 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
C |
A |
6: 18,367,537 (GRCm39) |
V1594F |
possibly damaging |
Het |
| Cyp2a22 |
G |
T |
7: 26,635,859 (GRCm39) |
Q235K |
probably benign |
Het |
| Dennd11 |
C |
T |
6: 40,395,473 (GRCm39) |
V212I |
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,849,769 (GRCm39) |
N64S |
probably damaging |
Het |
| Ecm1 |
G |
A |
3: 95,644,098 (GRCm39) |
P169S |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Ern1 |
T |
C |
11: 106,314,251 (GRCm39) |
D183G |
probably damaging |
Het |
| Gpat2 |
T |
C |
2: 127,276,375 (GRCm39) |
V635A |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,174,410 (GRCm39) |
N564S |
probably damaging |
Het |
| Grtp1 |
A |
C |
8: 13,236,945 (GRCm39) |
I173S |
possibly damaging |
Het |
| Hsd17b4 |
A |
G |
18: 50,261,415 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,569,229 (GRCm39) |
|
probably null |
Het |
| Mark4 |
A |
T |
7: 19,181,181 (GRCm39) |
|
probably null |
Het |
| Mphosph9 |
T |
C |
5: 124,453,691 (GRCm39) |
D207G |
probably benign |
Het |
| Mrgprd |
A |
G |
7: 144,875,251 (GRCm39) |
M41V |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,468,743 (GRCm39) |
*66W |
probably null |
Het |
| Neto2 |
C |
A |
8: 86,417,515 (GRCm39) |
D30Y |
probably benign |
Het |
| Nlrp6 |
A |
T |
7: 140,503,333 (GRCm39) |
I450F |
possibly damaging |
Het |
| Nup155 |
T |
A |
15: 8,159,605 (GRCm39) |
|
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,495 (GRCm39) |
I11M |
probably benign |
Het |
| Pcdhb10 |
T |
G |
18: 37,546,815 (GRCm39) |
S630R |
possibly damaging |
Het |
| Rwdd4a |
T |
C |
8: 47,990,396 (GRCm39) |
|
probably null |
Het |
| Slc12a7 |
T |
A |
13: 73,961,795 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
C |
T |
19: 6,034,886 (GRCm39) |
V192I |
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,781,829 (GRCm39) |
S353T |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,708,441 (GRCm39) |
F753L |
probably damaging |
Het |
| Tecpr2 |
A |
T |
12: 110,899,626 (GRCm39) |
S665C |
probably damaging |
Het |
| Tor4a |
C |
A |
2: 25,084,761 (GRCm39) |
E381* |
probably null |
Het |
| Vdr |
A |
G |
15: 97,767,562 (GRCm39) |
Y143H |
probably benign |
Het |
| Vmn2r91 |
A |
C |
17: 18,356,348 (GRCm39) |
T672P |
possibly damaging |
Het |
| Wdr41 |
A |
G |
13: 95,131,753 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation