Incidental Mutation 'R8204:Tcerg1'
| ID |
635838 |
| 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 |
067627-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8204 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42644552-42708858 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42707618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1046
(L1046Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025375]
[ENSMUST00000054738]
[ENSMUST00000173642]
|
| AlphaFold |
Q8CGF7 |
| PDB Structure |
FBP28WW DOMAIN FROM MUS MUSCULUS [SOLUTION NMR]
FBP28WW2 domain in complex with the PPLIPPPP peptide [SOLUTION NMR]
FBP28WW2 domain in complex with PTPPPLPP peptide [SOLUTION NMR]
FBP28WW2 domain in complex with a PPPLIPPPP peptide [SOLUTION NMR]
Solution structure of the first WW domain from the mouse transcription elongation regulator 1, transcription factor CA150 [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025375
AA Change: L1046Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
AA Change: L1046Q
| 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 |
probably benign
Transcript: ENSMUST00000054738
|
| SMART Domains |
Protein: ENSMUSP00000058887
Gene: ENSMUSG00000042816
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
57 |
310 |
1.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173642
|
| SMART Domains |
Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498
| 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: 99.9%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
T |
11: 72,057,606 (GRCm39) |
R731H |
probably benign |
Het |
| Arpp21 |
T |
A |
9: 111,965,638 (GRCm39) |
Y408F |
noncoding transcript |
Het |
| Atr |
T |
C |
9: 95,817,566 (GRCm39) |
S2086P |
|
Het |
| BC034090 |
C |
A |
1: 155,117,488 (GRCm39) |
G210V |
probably damaging |
Het |
| Cdk6 |
A |
G |
5: 3,394,461 (GRCm39) |
D32G |
probably damaging |
Het |
| Cep126 |
C |
T |
9: 8,120,781 (GRCm39) |
E81K |
probably damaging |
Het |
| Cep20 |
T |
C |
16: 14,118,070 (GRCm39) |
D150G |
probably benign |
Het |
| Clec4d |
T |
A |
6: 123,242,323 (GRCm39) |
V25D |
probably damaging |
Het |
| Cox8a |
A |
G |
19: 7,192,845 (GRCm39) |
I40T |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,210,320 (GRCm39) |
L792P |
probably damaging |
Het |
| Egln3 |
T |
C |
12: 54,250,010 (GRCm39) |
Y113C |
probably benign |
Het |
| Exoc6b |
C |
T |
6: 84,832,504 (GRCm39) |
V397M |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,175,436 (GRCm39) |
L1759Q |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,110,074 (GRCm39) |
S701T |
unknown |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Git1 |
G |
A |
11: 77,396,161 (GRCm39) |
D551N |
probably benign |
Het |
| Gpr137 |
C |
T |
19: 6,917,746 (GRCm39) |
A21T |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,105,225 (GRCm39) |
F171L |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,132,523 (GRCm39) |
F175S |
probably damaging |
Het |
| Hoxc13 |
A |
G |
15: 102,835,795 (GRCm39) |
N308D |
probably damaging |
Het |
| Itga9 |
A |
G |
9: 118,700,989 (GRCm39) |
N924S |
probably damaging |
Het |
| Katnip |
C |
T |
7: 125,449,914 (GRCm39) |
R993C |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 160,934,414 (GRCm39) |
M202V |
probably benign |
Het |
| Krtap19-9a |
C |
T |
16: 88,720,996 (GRCm39) |
G37D |
noncoding transcript |
Het |
| Lancl2 |
C |
A |
6: 57,714,701 (GRCm39) |
P440Q |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,222,710 (GRCm39) |
I608T |
possibly damaging |
Het |
| Lrtm2 |
T |
A |
6: 119,294,369 (GRCm39) |
E254V |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,958,502 (GRCm39) |
C528S |
probably benign |
Het |
| Mast3 |
T |
C |
8: 71,240,925 (GRCm39) |
D224G |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myrip |
G |
A |
9: 120,262,045 (GRCm39) |
|
probably null |
Het |
| Or4f54 |
A |
G |
2: 111,123,485 (GRCm39) |
R291G |
probably damaging |
Het |
| Or5af2 |
A |
C |
11: 58,707,885 (GRCm39) |
D17A |
probably benign |
Het |
| Plekhg6 |
C |
T |
6: 125,340,461 (GRCm39) |
R633H |
probably damaging |
Het |
| Ppp1r7 |
T |
C |
1: 93,292,733 (GRCm39) |
V344A |
possibly damaging |
Het |
| Ppp2r1a |
A |
G |
17: 21,177,035 (GRCm39) |
E191G |
probably benign |
Het |
| Prkag2 |
T |
C |
5: 25,074,125 (GRCm39) |
|
probably null |
Het |
| Pyroxd2 |
A |
T |
19: 42,737,827 (GRCm39) |
V48E |
probably benign |
Het |
| Sacs |
T |
C |
14: 61,450,397 (GRCm39) |
S4148P |
probably damaging |
Het |
| Sh3tc2 |
T |
C |
18: 62,086,200 (GRCm39) |
F5S |
probably damaging |
Het |
| Skint8 |
T |
C |
4: 111,796,090 (GRCm39) |
S255P |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,226,159 (GRCm39) |
Q948L |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tfcp2 |
G |
T |
15: 100,420,329 (GRCm39) |
Q169K |
possibly damaging |
Het |
| Tpp1 |
A |
T |
7: 105,399,522 (GRCm39) |
L82Q |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,931,609 (GRCm39) |
S697P |
probably benign |
Het |
| Vmn1r55 |
A |
T |
7: 5,150,285 (GRCm39) |
I46N |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,000,451 (GRCm39) |
V2973A |
probably benign |
Het |
| Xrcc1 |
T |
C |
7: 24,271,709 (GRCm39) |
V564A |
possibly 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 |
|
R1571:Tcerg1
|
UTSW |
18 |
42,657,357 (GRCm39) |
missense |
unknown |
|
|
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 |
|
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'- AATGTTTTGCATCAGCTTGGGC -3'
(R):5'- AATTAACAGCGAGCCCGTG -3'
Sequencing Primer
(F):5'- GGTAATTCAGCTTCTGAGGCCC -3'
(R):5'- AGCGAGCCCGTGGAAGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation