Incidental Mutation 'R2095:Tcea2'
| ID |
232021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcea2
|
| Ensembl Gene |
ENSMUSG00000059540 |
| Gene Name |
transcription elongation factor A (SII), 2 |
| Synonyms |
SII-T1, Tceat, S-II-T1 |
| MMRRC Submission |
040099-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R2095 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181322103-181329864 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 181328725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 259
(F259L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002532]
[ENSMUST00000103042]
[ENSMUST00000108769]
[ENSMUST00000108771]
[ENSMUST00000108772]
[ENSMUST00000108776]
[ENSMUST00000108778]
[ENSMUST00000129745]
[ENSMUST00000108779]
[ENSMUST00000165416]
|
| AlphaFold |
Q9QVN7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002532
|
| SMART Domains |
Protein: ENSMUSP00000002532
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
RGS
|
90 |
206 |
2.73e-43 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103042
AA Change: F259L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099331
Gene: ENSMUSG00000059540
AA Change: F259L
| Domain | Start | End | E-Value | Type |
|---|
|
TFS2N
|
7 |
81 |
2.51e-25 |
SMART |
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
TFS2M
|
136 |
237 |
4.14e-51 |
SMART |
|
ZnF_C2C2
|
259 |
298 |
7.37e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108769
|
| SMART Domains |
Protein: ENSMUSP00000104400
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
Pfam:RGS
|
90 |
160 |
4.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108771
|
| SMART Domains |
Protein: ENSMUSP00000104402
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
29 |
N/A |
INTRINSIC |
|
RGS
|
68 |
184 |
2.73e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108772
|
| SMART Domains |
Protein: ENSMUSP00000104403
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
29 |
N/A |
INTRINSIC |
|
RGS
|
68 |
184 |
2.73e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108776
|
| SMART Domains |
Protein: ENSMUSP00000104406
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
RGS
|
90 |
206 |
2.73e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108778
|
| SMART Domains |
Protein: ENSMUSP00000104408
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
|
RGS
|
117 |
233 |
2.73e-43 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129006
AA Change: F256L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120083
Gene: ENSMUSG00000059540
AA Change: F256L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med26
|
27 |
77 |
5.1e-17 |
PFAM |
|
low complexity region
|
112 |
127 |
N/A |
INTRINSIC |
|
TFS2M
|
134 |
235 |
4.14e-51 |
SMART |
|
ZnF_C2C2
|
257 |
296 |
7.37e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125892
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129745
AA Change: F252L
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000119646
Gene: ENSMUSG00000059540
AA Change: F252L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med26
|
21 |
73 |
2.1e-20 |
PFAM |
|
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
|
TFS2M
|
129 |
230 |
4.14e-51 |
SMART |
|
ZnF_C2C2
|
252 |
291 |
7.37e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126623
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143510
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108779
|
| SMART Domains |
Protein: ENSMUSP00000104409
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144476
|
| SMART Domains |
Protein: ENSMUSP00000120723
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RGS
|
1 |
49 |
3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165416
|
| SMART Domains |
Protein: ENSMUSP00000129026
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
RGS
|
90 |
206 |
2.73e-43 |
SMART |
|
| Meta Mutation Damage Score |
0.1703 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the nucleus, where it functions as an SII class transcription elongation factor. Elongation factors in this class are responsible for releasing RNA polymerase II ternary complexes from transcriptional arrest at template-encoded arresting sites. The encoded protein has been shown to interact with general transcription factor IIB, a basal transcription factor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
C |
A |
4: 122,596,151 (GRCm39) |
Y127* |
probably null |
Het |
| Adam33 |
C |
T |
2: 130,895,629 (GRCm39) |
G562D |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,988,557 (GRCm39) |
F177L |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,530,470 (GRCm39) |
T1439A |
probably damaging |
Het |
| Arl5c |
C |
T |
11: 97,884,277 (GRCm39) |
E105K |
probably damaging |
Het |
| Armc3 |
T |
A |
2: 19,293,740 (GRCm39) |
D510E |
possibly damaging |
Het |
| Bbx |
T |
C |
16: 50,045,052 (GRCm39) |
E395G |
possibly damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,404,364 (GRCm39) |
E1087K |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,043,529 (GRCm39) |
N113S |
probably benign |
Het |
| Cbfa2t3 |
A |
G |
8: 123,361,727 (GRCm39) |
S432P |
probably benign |
Het |
| Ccn2 |
T |
C |
10: 24,472,377 (GRCm39) |
V140A |
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,294,781 (GRCm39) |
D615G |
probably damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,668,744 (GRCm39) |
D190E |
probably benign |
Het |
| Clec9a |
T |
C |
6: 129,393,321 (GRCm39) |
L115P |
possibly damaging |
Het |
| Cluh |
C |
T |
11: 74,552,550 (GRCm39) |
R532* |
probably null |
Het |
| Cntnap5a |
T |
A |
1: 116,369,990 (GRCm39) |
L869Q |
probably damaging |
Het |
| Cyp3a57 |
A |
T |
5: 145,305,944 (GRCm39) |
K143* |
probably null |
Het |
| Dcaf12 |
G |
T |
4: 41,294,085 (GRCm39) |
H351N |
probably benign |
Het |
| Dtna |
T |
A |
18: 23,702,805 (GRCm39) |
L112Q |
probably damaging |
Het |
| Fnta |
G |
A |
8: 26,489,907 (GRCm39) |
Q303* |
probably null |
Het |
| Frs2 |
T |
C |
10: 116,910,507 (GRCm39) |
E285G |
probably benign |
Het |
| Gabra4 |
T |
C |
5: 71,781,455 (GRCm39) |
I293V |
probably damaging |
Het |
| Gm2431 |
A |
T |
7: 141,811,518 (GRCm39) |
C129S |
unknown |
Het |
| Gnl2 |
C |
T |
4: 124,928,111 (GRCm39) |
R49C |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,536,972 (GRCm39) |
Y275N |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,189,289 (GRCm39) |
E1231G |
probably damaging |
Het |
| Kctd11 |
T |
A |
11: 69,770,402 (GRCm39) |
D212V |
probably damaging |
Het |
| Klf3 |
T |
A |
5: 64,979,245 (GRCm39) |
M29K |
probably benign |
Het |
| Klhl21 |
T |
C |
4: 152,093,850 (GRCm39) |
S151P |
probably benign |
Het |
| Lsm14b |
A |
T |
2: 179,673,580 (GRCm39) |
|
probably benign |
Het |
| Mlxipl |
T |
C |
5: 135,150,974 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
G |
A |
3: 104,708,847 (GRCm39) |
R389C |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,295,661 (GRCm39) |
M1071V |
possibly damaging |
Het |
| Myh8 |
G |
T |
11: 67,177,050 (GRCm39) |
A401S |
probably benign |
Het |
| Ndufv3 |
T |
C |
17: 31,746,460 (GRCm39) |
S117P |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,984,410 (GRCm39) |
|
probably null |
Het |
| Or1e22 |
T |
A |
11: 73,377,420 (GRCm39) |
T77S |
probably damaging |
Het |
| Or2l13 |
T |
C |
16: 19,305,681 (GRCm39) |
I31T |
probably benign |
Het |
| Or4c11c |
T |
C |
2: 88,661,634 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or8g50 |
T |
A |
9: 39,648,557 (GRCm39) |
Y149N |
probably damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,375 (GRCm39) |
D388E |
probably benign |
Het |
| Pgm3 |
T |
C |
9: 86,438,394 (GRCm39) |
T423A |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,156,154 (GRCm39) |
T91S |
probably benign |
Het |
| Sgcz |
T |
C |
8: 38,007,546 (GRCm39) |
|
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,871,376 (GRCm39) |
L79P |
probably damaging |
Het |
| Slco2a1 |
A |
G |
9: 102,954,167 (GRCm39) |
T383A |
probably benign |
Het |
| Slit1 |
G |
A |
19: 41,594,819 (GRCm39) |
R1184W |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,071,764 (GRCm39) |
M2248K |
possibly damaging |
Het |
| Stub1 |
A |
G |
17: 26,049,864 (GRCm39) |
Y304H |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,913,949 (GRCm39) |
Y146* |
probably null |
Het |
| Tbc1d1 |
C |
T |
5: 64,473,844 (GRCm39) |
S660L |
probably benign |
Het |
| Tcp11l1 |
T |
A |
2: 104,512,185 (GRCm39) |
K482N |
probably damaging |
Het |
| Trpv6 |
C |
T |
6: 41,598,690 (GRCm39) |
R645Q |
probably damaging |
Het |
| Uaca |
T |
A |
9: 60,748,125 (GRCm39) |
S30T |
probably benign |
Het |
| Ubap2 |
C |
G |
4: 41,206,901 (GRCm39) |
V492L |
possibly damaging |
Het |
| Ube3c |
T |
C |
5: 29,873,038 (GRCm39) |
F1026S |
probably damaging |
Het |
| Vmn2r8 |
T |
G |
5: 108,956,487 (GRCm39) |
D45A |
possibly damaging |
Het |
| Zfp738 |
G |
T |
13: 67,819,422 (GRCm39) |
L180I |
probably damaging |
Het |
|
| Other mutations in Tcea2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02118:Tcea2
|
APN |
2 |
181,327,628 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0009:Tcea2
|
UTSW |
2 |
181,327,610 (GRCm39) |
missense |
probably benign |
|
|
R0513:Tcea2
|
UTSW |
2 |
181,326,274 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0626:Tcea2
|
UTSW |
2 |
181,329,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1228:Tcea2
|
UTSW |
2 |
181,326,238 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1540:Tcea2
|
UTSW |
2 |
181,328,751 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4735:Tcea2
|
UTSW |
2 |
181,328,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5499:Tcea2
|
UTSW |
2 |
181,322,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7039:Tcea2
|
UTSW |
2 |
181,328,711 (GRCm39) |
nonsense |
probably null |
|
|
R7411:Tcea2
|
UTSW |
2 |
181,328,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9398:Tcea2
|
UTSW |
2 |
181,322,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9432:Tcea2
|
UTSW |
2 |
181,322,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9647:Tcea2
|
UTSW |
2 |
181,322,984 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9774:Tcea2
|
UTSW |
2 |
181,328,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGAGGTGAGTGCCACTG -3'
(R):5'- GAGTCCATATAGCCTTCCCAC -3'
Sequencing Primer
(F):5'- TGAGTGCCACTGGAAGGGC -3'
(R):5'- TAGCAGGATCTGAAGGTCCCAC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation