Incidental Mutation 'R7714:Tcerg1'
| ID |
594819 |
| 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 |
045772-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7714 (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 C
at 42694000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 707
(V707A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000025375
AA Change: V707A
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
AA Change: V707A
| 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: V707A
|
| SMART Domains |
Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498
AA Change: V707A
| 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 |
|
| Meta Mutation Damage Score |
0.1541 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (63/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,167,587 (GRCm39) |
|
probably null |
Het |
| Agrn |
C |
A |
4: 156,279,854 (GRCm39) |
D106Y |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,192,352 (GRCm39) |
Y416N |
probably benign |
Het |
| Atp6v0a2 |
C |
T |
5: 124,775,533 (GRCm39) |
T135M |
probably damaging |
Het |
| Bach1 |
C |
A |
16: 87,515,736 (GRCm39) |
Y92* |
probably null |
Het |
| Catsperg1 |
A |
C |
7: 28,884,907 (GRCm39) |
C905G |
probably null |
Het |
| Cbr2 |
T |
C |
11: 120,620,628 (GRCm39) |
I219V |
probably benign |
Het |
| Ccdc3 |
A |
T |
2: 5,233,908 (GRCm39) |
K244I |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,265,433 (GRCm39) |
V237A |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 110,989,319 (GRCm39) |
C81R |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,242,723 (GRCm39) |
|
probably null |
Het |
| Cracdl |
T |
A |
1: 37,663,858 (GRCm39) |
Q680L |
probably benign |
Het |
| Crybg3 |
A |
T |
16: 59,379,236 (GRCm39) |
S673T |
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,276,743 (GRCm39) |
Y848* |
probably null |
Het |
| Dgkb |
C |
A |
12: 38,680,592 (GRCm39) |
T764K |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,775,648 (GRCm39) |
C530* |
probably null |
Het |
| Dpyd |
A |
G |
3: 118,597,780 (GRCm39) |
K254R |
probably benign |
Het |
| Dstyk |
C |
T |
1: 132,384,614 (GRCm39) |
P703S |
possibly damaging |
Het |
| Ehhadh |
A |
T |
16: 21,585,140 (GRCm39) |
I247N |
probably damaging |
Het |
| Fer1l5 |
T |
G |
1: 36,440,558 (GRCm39) |
L597R |
probably damaging |
Het |
| Fignl1 |
T |
C |
11: 11,752,842 (GRCm39) |
E71G |
probably damaging |
Het |
| Fnip2 |
A |
C |
3: 79,425,421 (GRCm39) |
V58G |
probably damaging |
Het |
| Gapdhs |
A |
T |
7: 30,431,349 (GRCm39) |
I377N |
probably damaging |
Het |
| Gcn1 |
C |
T |
5: 115,733,359 (GRCm39) |
A1059V |
probably damaging |
Het |
| Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
| Grik2 |
A |
C |
10: 49,295,792 (GRCm39) |
I392S |
probably damaging |
Het |
| Hoxb3 |
T |
C |
11: 96,236,606 (GRCm39) |
L228P |
probably damaging |
Het |
| Iws1 |
A |
T |
18: 32,223,568 (GRCm39) |
M659L |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,580,364 (GRCm39) |
C570R |
probably benign |
Het |
| Lamc3 |
T |
A |
2: 31,812,279 (GRCm39) |
|
probably null |
Het |
| Lipf |
G |
A |
19: 33,943,048 (GRCm39) |
G119R |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,507,719 (GRCm39) |
I1416M |
unknown |
Het |
| Magel2 |
A |
T |
7: 62,028,130 (GRCm39) |
I345L |
probably benign |
Het |
| Mdn1 |
G |
A |
4: 32,722,360 (GRCm39) |
A2381T |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,001,007 (GRCm39) |
V690A |
probably benign |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Mob3b |
A |
G |
4: 35,083,872 (GRCm39) |
Y106H |
probably damaging |
Het |
| Myo1c |
T |
C |
11: 75,549,519 (GRCm39) |
Y166H |
probably damaging |
Het |
| Ndst4 |
A |
T |
3: 125,364,493 (GRCm39) |
H390L |
probably benign |
Het |
| Nt5c1b |
T |
A |
12: 10,425,472 (GRCm39) |
N280K |
probably damaging |
Het |
| Or10aa1 |
G |
A |
1: 173,869,900 (GRCm39) |
R128H |
probably benign |
Het |
| Or5b116 |
A |
T |
19: 13,423,252 (GRCm39) |
N292I |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,527,597 (GRCm39) |
F1947L |
probably damaging |
Het |
| Pabpc4 |
G |
A |
4: 123,189,102 (GRCm39) |
A481T |
probably benign |
Het |
| Parm1 |
C |
T |
5: 91,741,791 (GRCm39) |
T53I |
possibly damaging |
Het |
| Pilra |
C |
T |
5: 137,833,679 (GRCm39) |
R129Q |
probably benign |
Het |
| Pkd1 |
C |
T |
17: 24,769,250 (GRCm39) |
A5V |
unknown |
Het |
| Pmch |
T |
C |
10: 87,927,242 (GRCm39) |
S82P |
probably benign |
Het |
| Prf1 |
G |
A |
10: 61,135,934 (GRCm39) |
R70H |
possibly damaging |
Het |
| Rad51c |
T |
C |
11: 87,292,276 (GRCm39) |
S180G |
probably benign |
Het |
| Rassf8 |
A |
C |
6: 145,760,973 (GRCm39) |
T100P |
probably damaging |
Het |
| Rnpepl1 |
A |
G |
1: 92,844,890 (GRCm39) |
E394G |
probably damaging |
Het |
| Rufy2 |
T |
A |
10: 62,838,772 (GRCm39) |
V418E |
probably benign |
Het |
| Sdad1 |
A |
T |
5: 92,450,538 (GRCm39) |
V199D |
probably damaging |
Het |
| Sptbn4 |
A |
T |
7: 27,063,761 (GRCm39) |
S2227T |
probably benign |
Het |
| Tac4 |
A |
G |
11: 95,156,116 (GRCm39) |
M66V |
probably benign |
Het |
| Tas2r126 |
T |
C |
6: 42,412,031 (GRCm39) |
V188A |
probably benign |
Het |
| Tmem273 |
A |
G |
14: 32,527,129 (GRCm39) |
E32G |
possibly damaging |
Het |
| Trav13d-4 |
G |
A |
14: 53,995,355 (GRCm39) |
G103D |
probably damaging |
Het |
| Trav8d-1 |
A |
G |
14: 53,016,380 (GRCm39) |
S89G |
probably benign |
Het |
| Ttll4 |
C |
T |
1: 74,718,572 (GRCm39) |
S141L |
probably benign |
Het |
| Vash1 |
T |
C |
12: 86,738,614 (GRCm39) |
S354P |
probably benign |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,116 (GRCm39) |
I726F |
|
Het |
| Vmn2r53 |
A |
C |
7: 12,340,418 (GRCm39) |
N18K |
probably damaging |
Het |
| Wnt6 |
T |
C |
1: 74,823,422 (GRCm39) |
F253S |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,811 (GRCm39) |
I118T |
probably benign |
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 |
|
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'- TCTCCTTGGTTCTGGAGAGC -3'
(R):5'- AGAGCTCCTGTCACAACTGC -3'
Sequencing Primer
(F):5'- GCTGTGTGCTTCTGTACTGTTC -3'
(R):5'- GTACATCCACACTTGAGCTCAGGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation