Incidental Mutation 'R9718:Tcerg1'
ID |
730641 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9718 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
42644552-42708858 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 42663836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 341
(T341M)
|
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 |
unknown
Transcript: ENSMUST00000025375
AA Change: T341M
|
SMART Domains |
Protein: ENSMUSP00000025375 Gene: ENSMUSG00000024498 AA Change: T341M
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: T341M
|
SMART Domains |
Protein: ENSMUSP00000134458 Gene: ENSMUSG00000024498 AA Change: T341M
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: 99.6%
- 20x: 98.9%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430097D07Rik |
A |
C |
2: 32,465,247 (GRCm39) |
|
probably benign |
Het |
Acvr1c |
A |
T |
2: 58,206,007 (GRCm39) |
D34E |
probably benign |
Het |
Arhgef19 |
T |
C |
4: 140,976,603 (GRCm39) |
V455A |
probably damaging |
Het |
Cbfa2t3 |
T |
A |
8: 123,364,936 (GRCm39) |
D282V |
probably benign |
Het |
Ccl9 |
T |
A |
11: 83,466,238 (GRCm39) |
N114I |
probably benign |
Het |
Cdan1 |
G |
T |
2: 120,554,650 (GRCm39) |
A875E |
probably damaging |
Het |
Celf2 |
A |
T |
2: 6,726,349 (GRCm39) |
F61L |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,712,801 (GRCm39) |
Y875H |
unknown |
Het |
Ckap5 |
A |
T |
2: 91,379,177 (GRCm39) |
K39M |
probably benign |
Het |
Clcn3 |
T |
C |
8: 61,390,434 (GRCm39) |
H169R |
possibly damaging |
Het |
Csmd3 |
C |
A |
15: 47,560,083 (GRCm39) |
V1416F |
|
Het |
Cyp4v3 |
A |
T |
8: 45,773,703 (GRCm39) |
H155Q |
probably damaging |
Het |
Dhx36 |
A |
G |
3: 62,379,466 (GRCm39) |
F874S |
possibly damaging |
Het |
Dnah14 |
A |
T |
1: 181,450,544 (GRCm39) |
Q719L |
probably benign |
Het |
Evi2 |
C |
T |
11: 79,406,583 (GRCm39) |
V331M |
probably damaging |
Het |
Fcgrt |
T |
G |
7: 44,744,853 (GRCm39) |
E205A |
possibly damaging |
Het |
Fkrp |
G |
T |
7: 16,545,112 (GRCm39) |
T250N |
probably benign |
Het |
Ftdc1 |
A |
G |
16: 58,434,974 (GRCm39) |
L117S |
probably benign |
Het |
Galc |
G |
A |
12: 98,225,573 (GRCm39) |
P6S |
|
Het |
Gm5134 |
A |
T |
10: 75,828,331 (GRCm39) |
M304L |
possibly damaging |
Het |
Haao |
T |
C |
17: 84,142,215 (GRCm39) |
E208G |
probably damaging |
Het |
Hook1 |
T |
A |
4: 95,904,678 (GRCm39) |
H553Q |
probably benign |
Het |
Igdcc3 |
A |
G |
9: 65,090,280 (GRCm39) |
|
probably null |
Het |
Ighv10-3 |
C |
T |
12: 114,487,254 (GRCm39) |
V56I |
probably benign |
Het |
Ighv1-62-1 |
G |
T |
12: 115,350,705 (GRCm39) |
A15E |
probably benign |
Het |
Krtap24-1 |
T |
C |
16: 88,408,378 (GRCm39) |
*249W |
probably null |
Het |
Ktn1 |
T |
G |
14: 47,910,508 (GRCm39) |
I318R |
probably damaging |
Het |
L3mbtl2 |
A |
G |
15: 81,572,123 (GRCm39) |
T710A |
unknown |
Het |
Ldha |
A |
T |
7: 46,504,456 (GRCm39) |
Q326L |
possibly damaging |
Het |
Map4 |
G |
A |
9: 109,901,774 (GRCm39) |
|
probably null |
Het |
Mdfic |
T |
A |
6: 15,770,514 (GRCm39) |
H173Q |
probably damaging |
Het |
Noxred1 |
T |
A |
12: 87,271,692 (GRCm39) |
Q159L |
possibly damaging |
Het |
Omd |
T |
C |
13: 49,743,336 (GRCm39) |
S129P |
probably damaging |
Het |
Or14j3 |
C |
T |
17: 37,900,914 (GRCm39) |
G110D |
probably benign |
Het |
Or52r1c |
T |
C |
7: 102,735,196 (GRCm39) |
V152A |
probably benign |
Het |
Parp16 |
A |
G |
9: 65,141,009 (GRCm39) |
Y193C |
probably damaging |
Het |
Pdzk1 |
A |
G |
3: 96,763,174 (GRCm39) |
T201A |
|
Het |
Phldb2 |
T |
A |
16: 45,601,756 (GRCm39) |
H728L |
possibly damaging |
Het |
Prrt1b |
A |
T |
2: 29,637,548 (GRCm39) |
L42Q |
probably damaging |
Het |
Ptchd4 |
C |
T |
17: 42,813,641 (GRCm39) |
T514I |
probably damaging |
Het |
Pusl1 |
T |
C |
4: 155,976,094 (GRCm39) |
D24G |
probably benign |
Het |
Rai1 |
G |
A |
11: 60,080,165 (GRCm39) |
A1410T |
probably benign |
Het |
Rint1 |
T |
A |
5: 24,005,721 (GRCm39) |
H134Q |
possibly damaging |
Het |
Rnf170 |
A |
G |
8: 26,619,243 (GRCm39) |
S156G |
unknown |
Het |
Rtf1 |
A |
G |
2: 119,535,986 (GRCm39) |
D180G |
possibly damaging |
Het |
Sectm1a |
G |
T |
11: 120,960,490 (GRCm39) |
D108E |
probably damaging |
Het |
Senp7 |
T |
A |
16: 55,944,277 (GRCm39) |
D200E |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,616,848 (GRCm39) |
S431G |
probably benign |
Het |
Sh3bp4 |
T |
A |
1: 89,073,472 (GRCm39) |
D773E |
probably damaging |
Het |
Shprh |
T |
C |
10: 11,089,248 (GRCm39) |
L1662P |
probably damaging |
Het |
Slx4 |
G |
T |
16: 3,804,328 (GRCm39) |
P829T |
possibly damaging |
Het |
Snapc4 |
A |
T |
2: 26,268,533 (GRCm39) |
S43T |
probably damaging |
Het |
Ssh3 |
C |
T |
19: 4,312,437 (GRCm39) |
R636Q |
probably benign |
Het |
Strn4 |
G |
A |
7: 16,572,496 (GRCm39) |
V679M |
probably damaging |
Het |
Tas2r121 |
T |
G |
6: 132,677,765 (GRCm39) |
Y69S |
probably benign |
Het |
Tjp2 |
A |
C |
19: 24,078,207 (GRCm39) |
S895R |
probably damaging |
Het |
Tmem220 |
G |
T |
11: 66,916,086 (GRCm39) |
A28S |
probably damaging |
Het |
Trdv1 |
G |
A |
14: 54,119,663 (GRCm39) |
C109Y |
probably damaging |
Het |
Trpc6 |
A |
G |
9: 8,634,190 (GRCm39) |
Y423C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,625,027 (GRCm39) |
M15184V |
possibly damaging |
Het |
Ugt2b37 |
T |
A |
5: 87,390,802 (GRCm39) |
Y355F |
probably benign |
Het |
Vnn3 |
C |
T |
10: 23,745,454 (GRCm39) |
R468* |
probably null |
Het |
Washc5 |
T |
A |
15: 59,217,192 (GRCm39) |
T792S |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,847,893 (GRCm39) |
M820V |
|
Het |
Zfp961 |
T |
A |
8: 72,721,933 (GRCm39) |
C149S |
possibly damaging |
Het |
Zmat4 |
G |
A |
8: 24,238,507 (GRCm39) |
V30M |
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 |
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 |
R9781:Tcerg1
|
UTSW |
18 |
42,701,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTCATGAGATGATGGGCC -3'
(R):5'- GGCAATTTCAAATGCAACAGAC -3'
Sequencing Primer
(F):5'- TCATGAGATGATGGGCCCTTAAATAG -3'
(R):5'- TTTCAAATGCAACAGACACATGAG -3'
|
Posted On |
2022-10-06 |