Incidental Mutation 'R1571:Tcerg1'
| ID |
186236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcerg1
|
| Ensembl Gene |
ENSMUSG00000024498 |
| Gene Name |
transcription elongation regulator 1 (CA150) |
| Synonyms |
ca150, p144, Fbp28, 2900090C16Rik, Taf2s, 2410022J09Rik |
| MMRRC Submission |
039610-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1571 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
42644552-42708858 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42657357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 280
(T280A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025375]
[ENSMUST00000173642]
|
| AlphaFold |
Q8CGF7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000025375
AA Change: T280A
|
| SMART Domains |
Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
AA Change: T280A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
92 |
N/A |
INTRINSIC |
|
WW
|
132 |
164 |
8.27e-10 |
SMART |
|
low complexity region
|
178 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
373 |
N/A |
INTRINSIC |
|
WW
|
432 |
464 |
2.65e-8 |
SMART |
|
WW
|
531 |
563 |
1.2e-6 |
SMART |
|
low complexity region
|
611 |
623 |
N/A |
INTRINSIC |
|
coiled coil region
|
629 |
654 |
N/A |
INTRINSIC |
|
FF
|
661 |
714 |
2.67e-13 |
SMART |
|
FF
|
727 |
781 |
1.51e-12 |
SMART |
|
FF
|
794 |
848 |
4.29e-17 |
SMART |
|
FF
|
898 |
954 |
8.33e-15 |
SMART |
|
FF
|
956 |
1012 |
1.47e-15 |
SMART |
|
FF
|
1014 |
1079 |
1.3e-16 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000173642
AA Change: T280A
|
| SMART Domains |
Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498
AA Change: T280A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
92 |
N/A |
INTRINSIC |
|
WW
|
132 |
164 |
8.27e-10 |
SMART |
|
low complexity region
|
178 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
373 |
N/A |
INTRINSIC |
|
WW
|
432 |
464 |
2.65e-8 |
SMART |
|
WW
|
531 |
563 |
1.2e-6 |
SMART |
|
low complexity region
|
611 |
623 |
N/A |
INTRINSIC |
|
coiled coil region
|
629 |
654 |
N/A |
INTRINSIC |
|
FF
|
661 |
714 |
2.67e-13 |
SMART |
|
FF
|
727 |
781 |
1.51e-12 |
SMART |
|
FF
|
794 |
848 |
4.29e-17 |
SMART |
|
FF
|
898 |
954 |
8.33e-15 |
SMART |
|
FF
|
956 |
1012 |
1.47e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II via multiple FF domains, and with the pre-mRNA splicing factor SF1 via a WW domain. Alternative splicing results in multiple transcripts variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610524H06Rik |
A |
G |
5: 114,961,372 (GRCm39) |
|
probably null |
Het |
| Abcd3 |
T |
C |
3: 121,586,491 (GRCm39) |
I70V |
possibly damaging |
Het |
| Acad10 |
T |
C |
5: 121,759,411 (GRCm39) |
Y1024C |
probably damaging |
Het |
| Atp2b3 |
T |
G |
X: 72,588,712 (GRCm39) |
V701G |
probably damaging |
Het |
| Cbfa2t2 |
T |
A |
2: 154,342,347 (GRCm39) |
M21K |
probably damaging |
Het |
| Cdc25a |
C |
T |
9: 109,710,614 (GRCm39) |
T106I |
possibly damaging |
Het |
| Cdhr5 |
T |
C |
7: 140,852,083 (GRCm39) |
T190A |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,685,445 (GRCm39) |
T829A |
probably benign |
Het |
| Clcn6 |
T |
C |
4: 148,097,226 (GRCm39) |
T614A |
possibly damaging |
Het |
| Cntln |
A |
T |
4: 84,865,823 (GRCm39) |
R160* |
probably null |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dock3 |
C |
A |
9: 106,815,158 (GRCm39) |
M1236I |
possibly damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,847,719 (GRCm39) |
H213Q |
probably damaging |
Het |
| Eya1 |
T |
A |
1: 14,279,141 (GRCm39) |
H372L |
probably damaging |
Het |
| Fam13b |
A |
G |
18: 34,630,485 (GRCm39) |
V91A |
possibly damaging |
Het |
| Hat1 |
T |
A |
2: 71,264,519 (GRCm39) |
I319K |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,225,853 (GRCm39) |
N123D |
probably benign |
Het |
| Kcns3 |
C |
A |
12: 11,141,551 (GRCm39) |
G383W |
probably damaging |
Het |
| Kprp |
A |
T |
3: 92,732,689 (GRCm39) |
C120* |
probably null |
Het |
| Lama3 |
T |
A |
18: 12,672,774 (GRCm39) |
C2456S |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,366,658 (GRCm39) |
D539E |
probably damaging |
Het |
| Matn3 |
T |
C |
12: 9,005,466 (GRCm39) |
L292S |
probably damaging |
Het |
| Mbd3l1 |
T |
A |
9: 18,395,947 (GRCm39) |
I24N |
probably damaging |
Het |
| Med10 |
T |
C |
13: 69,958,159 (GRCm39) |
L37P |
probably damaging |
Het |
| Mrc1 |
A |
T |
2: 14,313,544 (GRCm39) |
H925L |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,409,290 (GRCm39) |
I3219N |
probably damaging |
Het |
| Nom1 |
C |
T |
5: 29,647,633 (GRCm39) |
Q623* |
probably null |
Het |
| Nrm |
T |
A |
17: 36,175,079 (GRCm39) |
W136R |
probably damaging |
Het |
| Or8h8 |
A |
C |
2: 86,753,789 (GRCm39) |
V29G |
probably benign |
Het |
| Pde7b |
T |
C |
10: 20,288,836 (GRCm39) |
N298S |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,277,990 (GRCm39) |
A305T |
possibly damaging |
Het |
| Pimreg |
T |
C |
11: 71,936,042 (GRCm39) |
L175P |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,390,237 (GRCm39) |
D1451G |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,355,128 (GRCm39) |
S212G |
probably benign |
Het |
| Rhpn1 |
C |
T |
15: 75,585,967 (GRCm39) |
R627C |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnase4 |
T |
G |
14: 51,342,497 (GRCm39) |
F74V |
probably damaging |
Het |
| Sbno2 |
A |
G |
10: 79,896,226 (GRCm39) |
|
probably null |
Het |
| Selp |
T |
C |
1: 163,954,176 (GRCm39) |
Y159H |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,000,853 (GRCm39) |
T21A |
probably damaging |
Het |
| Slco1a7 |
A |
T |
6: 141,700,135 (GRCm39) |
C132* |
probably null |
Het |
| Slco3a1 |
T |
C |
7: 74,154,128 (GRCm39) |
D148G |
possibly damaging |
Het |
| Smtn |
G |
A |
11: 3,480,102 (GRCm39) |
P373L |
probably benign |
Het |
| Snx20 |
A |
T |
8: 89,356,597 (GRCm39) |
L73Q |
probably damaging |
Het |
| Sobp |
A |
G |
10: 43,033,942 (GRCm39) |
V128A |
possibly damaging |
Het |
| Tgfbrap1 |
A |
G |
1: 43,088,973 (GRCm39) |
V810A |
probably benign |
Het |
| Thbs1 |
C |
A |
2: 117,949,678 (GRCm39) |
D589E |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,078,239 (GRCm39) |
Y885H |
probably damaging |
Het |
| Tmem109 |
A |
G |
19: 10,849,993 (GRCm39) |
S100P |
probably damaging |
Het |
| Trim36 |
T |
C |
18: 46,305,562 (GRCm39) |
K462E |
probably benign |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,538 (GRCm39) |
I257F |
probably damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,372,352 (GRCm39) |
Y54C |
probably damaging |
Het |
| Wdcp |
T |
A |
12: 4,901,924 (GRCm39) |
Y593* |
probably null |
Het |
| Wdr59 |
T |
C |
8: 112,177,682 (GRCm39) |
S907G |
probably damaging |
Het |
|
| Other mutations in Tcerg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00701:Tcerg1
|
APN |
18 |
42,669,407 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL00708:Tcerg1
|
APN |
18 |
42,704,190 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL00741:Tcerg1
|
APN |
18 |
42,701,518 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01314:Tcerg1
|
APN |
18 |
42,706,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01358:Tcerg1
|
APN |
18 |
42,657,342 (GRCm39) |
missense |
unknown |
|
|
IGL01832:Tcerg1
|
APN |
18 |
42,707,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01985:Tcerg1
|
APN |
18 |
42,663,721 (GRCm39) |
missense |
unknown |
|
|
IGL02937:Tcerg1
|
APN |
18 |
42,657,414 (GRCm39) |
missense |
unknown |
|
|
IGL02953:Tcerg1
|
APN |
18 |
42,681,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03082:Tcerg1
|
APN |
18 |
42,706,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0031:Tcerg1
|
UTSW |
18 |
42,706,367 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0060:Tcerg1
|
UTSW |
18 |
42,657,073 (GRCm39) |
missense |
unknown |
|
|
R0138:Tcerg1
|
UTSW |
18 |
42,701,679 (GRCm39) |
splice site |
probably benign |
|
|
R0482:Tcerg1
|
UTSW |
18 |
42,697,305 (GRCm39) |
splice site |
probably benign |
|
|
R0502:Tcerg1
|
UTSW |
18 |
42,656,021 (GRCm39) |
missense |
unknown |
|
|
R0731:Tcerg1
|
UTSW |
18 |
42,704,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1117:Tcerg1
|
UTSW |
18 |
42,707,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1542:Tcerg1
|
UTSW |
18 |
42,686,495 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1673:Tcerg1
|
UTSW |
18 |
42,685,646 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1678:Tcerg1
|
UTSW |
18 |
42,657,414 (GRCm39) |
missense |
unknown |
|
|
R1799:Tcerg1
|
UTSW |
18 |
42,694,012 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2094:Tcerg1
|
UTSW |
18 |
42,697,210 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2231:Tcerg1
|
UTSW |
18 |
42,657,309 (GRCm39) |
missense |
unknown |
|
|
R2989:Tcerg1
|
UTSW |
18 |
42,652,540 (GRCm39) |
missense |
unknown |
|
|
R3831:Tcerg1
|
UTSW |
18 |
42,701,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4009:Tcerg1
|
UTSW |
18 |
42,697,201 (GRCm39) |
frame shift |
probably null |
|
|
R4034:Tcerg1
|
UTSW |
18 |
42,652,598 (GRCm39) |
missense |
unknown |
|
|
R4826:Tcerg1
|
UTSW |
18 |
42,668,180 (GRCm39) |
missense |
unknown |
|
|
R4858:Tcerg1
|
UTSW |
18 |
42,657,046 (GRCm39) |
missense |
unknown |
|
|
R5371:Tcerg1
|
UTSW |
18 |
42,652,600 (GRCm39) |
missense |
unknown |
|
|
R5865:Tcerg1
|
UTSW |
18 |
42,669,413 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6128:Tcerg1
|
UTSW |
18 |
42,644,563 (GRCm39) |
splice site |
probably null |
|
|
R6258:Tcerg1
|
UTSW |
18 |
42,686,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Tcerg1
|
UTSW |
18 |
42,686,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6516:Tcerg1
|
UTSW |
18 |
42,663,957 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6825:Tcerg1
|
UTSW |
18 |
42,681,542 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7147:Tcerg1
|
UTSW |
18 |
42,683,128 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7714:Tcerg1
|
UTSW |
18 |
42,694,000 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7739:Tcerg1
|
UTSW |
18 |
42,657,039 (GRCm39) |
missense |
unknown |
|
|
R7838:Tcerg1
|
UTSW |
18 |
42,670,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8204:Tcerg1
|
UTSW |
18 |
42,707,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8293:Tcerg1
|
UTSW |
18 |
42,694,020 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8300:Tcerg1
|
UTSW |
18 |
42,683,137 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8426:Tcerg1
|
UTSW |
18 |
42,681,466 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8514:Tcerg1
|
UTSW |
18 |
42,697,187 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8672:Tcerg1
|
UTSW |
18 |
42,686,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9367:Tcerg1
|
UTSW |
18 |
42,685,573 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9715:Tcerg1
|
UTSW |
18 |
42,706,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9718:Tcerg1
|
UTSW |
18 |
42,663,836 (GRCm39) |
missense |
unknown |
|
|
R9781:Tcerg1
|
UTSW |
18 |
42,701,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCGTGAATCTGCATGGACCAAG -3'
(R):5'- GGCACACATCTGTAATTCCCACAGC -3'
Sequencing Primer
(F):5'- gcccaagcacaggttcag -3'
(R):5'- ACATCTGTAATTCCCACAGCATTTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation