Incidental Mutation 'R8672:Tcerg1'
| ID |
661232 |
| 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 |
068527-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8672 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
42644552-42708858 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42686559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 705
(K705N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025375]
[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: K705N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
AA Change: K705N
| 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: K705N
|
| SMART Domains |
Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498
AA Change: K705N
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| Aadat |
A |
T |
8: 60,959,179 (GRCm39) |
|
probably benign |
Het |
| Amigo3 |
A |
G |
9: 107,931,375 (GRCm39) |
H266R |
possibly damaging |
Het |
| Amy2a1 |
A |
T |
3: 113,323,146 (GRCm39) |
M214K |
probably damaging |
Het |
| Atp11b |
A |
T |
3: 35,874,066 (GRCm39) |
D685V |
probably benign |
Het |
| Aunip |
T |
A |
4: 134,250,460 (GRCm39) |
M135K |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,731,564 (GRCm39) |
T483A |
probably benign |
Het |
| Card9 |
T |
C |
2: 26,247,950 (GRCm39) |
T134A |
probably benign |
Het |
| Cd46 |
G |
A |
1: 194,764,949 (GRCm39) |
T216I |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,079,005 (GRCm39) |
V360A |
unknown |
Het |
| Crcp |
A |
G |
5: 130,071,077 (GRCm39) |
R59G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,976,598 (GRCm39) |
E2873D |
probably benign |
Het |
| Cyp8b1 |
T |
A |
9: 121,743,986 (GRCm39) |
M449L |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,246,133 (GRCm39) |
D40G |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,853,823 (GRCm39) |
L463Q |
possibly damaging |
Het |
| Fzd9 |
T |
C |
5: 135,278,524 (GRCm39) |
I454V |
probably benign |
Het |
| Gbp11 |
T |
A |
5: 105,491,675 (GRCm39) |
I41F |
probably damaging |
Het |
| Gkap1 |
G |
A |
13: 58,391,662 (GRCm39) |
T231I |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,069,632 (GRCm39) |
L1705P |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,850,786 (GRCm39) |
F467I |
probably damaging |
Het |
| Ifih1 |
T |
C |
2: 62,435,993 (GRCm39) |
E699G |
possibly damaging |
Het |
| Ints5 |
T |
A |
19: 8,873,370 (GRCm39) |
L443Q |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,276,016 (GRCm39) |
C764S |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,551,230 (GRCm39) |
I519N |
probably damaging |
Het |
| Krtap4-1 |
C |
T |
11: 99,518,890 (GRCm39) |
C40Y |
unknown |
Het |
| Mdn1 |
A |
G |
4: 32,768,793 (GRCm39) |
D5384G |
probably damaging |
Het |
| Mpl |
T |
C |
4: 118,306,110 (GRCm39) |
Y310C |
probably damaging |
Het |
| Mucl1 |
A |
G |
15: 103,784,063 (GRCm39) |
S48P |
possibly damaging |
Het |
| Musk |
T |
G |
4: 58,286,051 (GRCm39) |
|
probably benign |
Het |
| Nemp1 |
T |
C |
10: 127,512,988 (GRCm39) |
S8P |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,895,093 (GRCm39) |
C1068R |
probably damaging |
Het |
| Npr3 |
T |
C |
15: 11,851,579 (GRCm39) |
N404D |
probably damaging |
Het |
| Nwd1 |
C |
G |
8: 73,394,007 (GRCm39) |
H423Q |
probably damaging |
Het |
| Or5a1 |
C |
T |
19: 12,097,921 (GRCm39) |
V52M |
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,596 (GRCm39) |
N63K |
probably damaging |
Het |
| Or8j3c |
T |
A |
2: 86,253,976 (GRCm39) |
M15L |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 94,124,529 (GRCm39) |
N547S |
probably benign |
Het |
| Pdha2 |
C |
A |
3: 140,917,124 (GRCm39) |
R128L |
probably damaging |
Het |
| Pebp1 |
A |
G |
5: 117,421,336 (GRCm39) |
Y181H |
probably benign |
Het |
| Peg3 |
T |
G |
7: 6,711,523 (GRCm39) |
D1233A |
possibly damaging |
Het |
| Pepd |
C |
A |
7: 34,642,107 (GRCm39) |
T146N |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,393,841 (GRCm39) |
D877E |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,270,846 (GRCm39) |
M647R |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,419,007 (GRCm39) |
S702P |
possibly damaging |
Het |
| Shb |
A |
T |
4: 45,489,161 (GRCm39) |
D238E |
probably damaging |
Het |
| Slc36a1 |
T |
A |
11: 55,123,334 (GRCm39) |
V433D |
possibly damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,127,726 (GRCm39) |
N1761K |
probably benign |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Thbs1 |
C |
A |
2: 117,943,719 (GRCm39) |
N112K |
probably benign |
Het |
| Zfp658 |
T |
C |
7: 43,222,919 (GRCm39) |
I398T |
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 |
|
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 |
|
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'- AAATTTGCTGTTGCTAGCCTC -3'
(R):5'- CAAAACATCGCGACAGTGG -3'
Sequencing Primer
(F):5'- ATGTCTCCTTTACAAACAGATGCC -3'
(R):5'- ACATCGCGACAGTGGCTTAGTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation