Incidental Mutation 'IGL02937:Tcerg1'
ID |
364346 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tcerg1
|
Ensembl Gene |
ENSMUSG00000024498 |
Gene Name |
transcription elongation regulator 1 (CA150) |
Synonyms |
ca150, p144, Fbp28, 2900090C16Rik, Taf2s, 2410022J09Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02937
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
42644552-42708858 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42657414 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 299
(S299P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025375]
[ENSMUST00000173642]
|
AlphaFold |
Q8CGF7 |
Predicted Effect |
unknown
Transcript: ENSMUST00000025375
AA Change: S299P
|
SMART Domains |
Protein: ENSMUSP00000025375 Gene: ENSMUSG00000024498 AA Change: S299P
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: S299P
|
SMART Domains |
Protein: ENSMUSP00000134458 Gene: ENSMUSG00000024498 AA Change: S299P
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 |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406C07Rik |
C |
T |
9: 15,206,049 (GRCm39) |
C21Y |
probably damaging |
Het |
4933427D06Rik |
T |
C |
6: 89,085,127 (GRCm39) |
|
noncoding transcript |
Het |
5730480H06Rik |
A |
G |
5: 48,536,783 (GRCm39) |
I160V |
probably benign |
Het |
Arhgap29 |
G |
A |
3: 121,767,698 (GRCm39) |
E47K |
probably damaging |
Het |
Arhgef12 |
T |
A |
9: 42,927,216 (GRCm39) |
S303C |
probably damaging |
Het |
Bap1 |
A |
G |
14: 30,980,284 (GRCm39) |
N644S |
probably benign |
Het |
Cc2d1b |
A |
G |
4: 108,489,091 (GRCm39) |
E796G |
probably damaging |
Het |
Cfh |
C |
A |
1: 140,033,180 (GRCm39) |
R788L |
probably benign |
Het |
Cldn1 |
A |
G |
16: 26,179,623 (GRCm39) |
F148S |
probably damaging |
Het |
Cryzl1 |
A |
G |
16: 91,487,619 (GRCm39) |
M292T |
possibly damaging |
Het |
Cyp11b1 |
T |
C |
15: 74,708,408 (GRCm39) |
R385G |
possibly damaging |
Het |
Cyp4f37 |
T |
C |
17: 32,844,163 (GRCm39) |
L89P |
probably benign |
Het |
Dach1 |
A |
G |
14: 98,153,231 (GRCm39) |
|
probably null |
Het |
Dhtkd1 |
A |
G |
2: 5,922,716 (GRCm39) |
I481T |
possibly damaging |
Het |
Dlx5 |
A |
T |
6: 6,881,755 (GRCm39) |
D44E |
probably damaging |
Het |
Dsg1a |
T |
A |
18: 20,464,591 (GRCm39) |
I362N |
possibly damaging |
Het |
Ecm2 |
T |
A |
13: 49,671,952 (GRCm39) |
I151N |
probably damaging |
Het |
Far1 |
T |
A |
7: 113,139,855 (GRCm39) |
I101N |
probably damaging |
Het |
Gm21985 |
T |
C |
2: 112,172,207 (GRCm39) |
S384P |
probably benign |
Het |
Gnb5 |
T |
C |
9: 75,247,471 (GRCm39) |
Y247H |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,736,572 (GRCm39) |
K1940E |
probably damaging |
Het |
Gprc5b |
A |
G |
7: 118,583,017 (GRCm39) |
V284A |
probably benign |
Het |
Idh2 |
T |
C |
7: 79,748,661 (GRCm39) |
Y179C |
probably damaging |
Het |
Kalrn |
G |
A |
16: 34,040,500 (GRCm39) |
Q737* |
probably null |
Het |
Kcnj13 |
T |
C |
1: 87,314,175 (GRCm39) |
D349G |
probably damaging |
Het |
Lgsn |
A |
T |
1: 31,243,318 (GRCm39) |
T467S |
possibly damaging |
Het |
Map9 |
T |
A |
3: 82,270,819 (GRCm39) |
S128T |
possibly damaging |
Het |
Mroh5 |
A |
G |
15: 73,661,827 (GRCm39) |
C455R |
probably damaging |
Het |
Nes |
A |
G |
3: 87,887,186 (GRCm39) |
H1771R |
probably benign |
Het |
Nkain2 |
T |
C |
10: 32,205,840 (GRCm39) |
Y65C |
probably damaging |
Het |
Or51a43 |
T |
A |
7: 103,718,056 (GRCm39) |
M61L |
probably damaging |
Het |
Or51b6b |
A |
T |
7: 103,310,112 (GRCm39) |
V115D |
probably damaging |
Het |
Or6aa1 |
T |
C |
7: 86,043,798 (GRCm39) |
K303E |
possibly damaging |
Het |
Pabpc4l |
A |
C |
3: 46,400,725 (GRCm39) |
D306E |
probably benign |
Het |
Parp12 |
A |
T |
6: 39,079,515 (GRCm39) |
Y332N |
probably damaging |
Het |
Parvb |
A |
T |
15: 84,193,154 (GRCm39) |
K316M |
probably damaging |
Het |
Pde8a |
T |
A |
7: 80,945,519 (GRCm39) |
|
probably benign |
Het |
Polq |
A |
G |
16: 36,833,471 (GRCm39) |
T55A |
probably benign |
Het |
Ppp2r5b |
T |
A |
19: 6,281,016 (GRCm39) |
K271M |
probably damaging |
Het |
Ralgapb |
A |
G |
2: 158,334,936 (GRCm39) |
|
probably null |
Het |
Rigi |
C |
T |
4: 40,229,661 (GRCm39) |
C86Y |
probably benign |
Het |
Skap2 |
T |
C |
6: 51,886,351 (GRCm39) |
N175D |
probably benign |
Het |
Slc44a3 |
A |
G |
3: 121,303,970 (GRCm39) |
|
probably benign |
Het |
Smurf2 |
G |
A |
11: 106,736,873 (GRCm39) |
H318Y |
probably damaging |
Het |
Tbc1d23 |
T |
C |
16: 57,004,778 (GRCm39) |
T460A |
possibly damaging |
Het |
Tll1 |
A |
C |
8: 64,658,319 (GRCm39) |
Y33* |
probably null |
Het |
Tmem59 |
A |
T |
4: 107,054,782 (GRCm39) |
T196S |
probably damaging |
Het |
Ttll4 |
C |
A |
1: 74,718,662 (GRCm39) |
A171D |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,641,513 (GRCm39) |
T13528A |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,717,621 (GRCm39) |
|
probably benign |
Het |
Xpc |
C |
A |
6: 91,477,119 (GRCm39) |
G327W |
probably damaging |
Het |
Zbtb7a |
A |
G |
10: 80,980,132 (GRCm39) |
S109G |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,285,794 (GRCm39) |
M2328V |
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 |
|
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 |
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 |
|
Posted On |
2015-12-18 |