Incidental Mutation 'IGL01985:Tcerg1'
ID |
181879 |
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 # |
IGL01985
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
42644552-42708858 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 42663721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 303
(T303A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025375]
[ENSMUST00000173642]
|
AlphaFold |
Q8CGF7 |
Predicted Effect |
unknown
Transcript: ENSMUST00000025375
AA Change: T303A
|
SMART Domains |
Protein: ENSMUSP00000025375 Gene: ENSMUSG00000024498 AA Change: T303A
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: T303A
|
SMART Domains |
Protein: ENSMUSP00000134458 Gene: ENSMUSG00000024498 AA Change: T303A
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
G |
A |
4: 144,442,024 (GRCm39) |
Q76* |
probably null |
Het |
Cass4 |
A |
C |
2: 172,269,126 (GRCm39) |
S403R |
probably damaging |
Het |
Ccdc175 |
A |
T |
12: 72,175,052 (GRCm39) |
Y540* |
probably null |
Het |
Cep164 |
C |
T |
9: 45,690,904 (GRCm39) |
E1266K |
probably damaging |
Het |
Clec12b |
T |
A |
6: 129,359,334 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
T |
C |
9: 105,814,482 (GRCm39) |
K510R |
unknown |
Het |
Crisp4 |
G |
A |
1: 18,204,289 (GRCm39) |
P101S |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,884,074 (GRCm39) |
L614P |
probably damaging |
Het |
Dip2c |
T |
C |
13: 9,603,303 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
G |
4: 98,911,614 (GRCm39) |
F589L |
probably benign |
Het |
Dvl2 |
T |
A |
11: 69,899,119 (GRCm39) |
V459E |
probably damaging |
Het |
E2f6 |
T |
C |
12: 16,869,064 (GRCm39) |
|
probably null |
Het |
Exph5 |
T |
C |
9: 53,287,869 (GRCm39) |
L1650P |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,535,324 (GRCm39) |
Y691C |
probably damaging |
Het |
Fshb |
T |
C |
2: 106,889,173 (GRCm39) |
T44A |
probably benign |
Het |
Gm28044 |
T |
A |
13: 67,495,958 (GRCm39) |
K28* |
probably null |
Het |
Il12b |
G |
A |
11: 44,298,881 (GRCm39) |
W112* |
probably null |
Het |
Ino80 |
T |
C |
2: 119,263,802 (GRCm39) |
T621A |
probably damaging |
Het |
Irx5 |
T |
A |
8: 93,086,155 (GRCm39) |
|
probably benign |
Het |
Jmy |
T |
C |
13: 93,596,144 (GRCm39) |
H495R |
possibly damaging |
Het |
Kif21a |
A |
T |
15: 90,875,970 (GRCm39) |
V321D |
probably damaging |
Het |
Lrrc10 |
T |
A |
10: 116,881,921 (GRCm39) |
D198E |
probably damaging |
Het |
Lrsam1 |
T |
C |
2: 32,818,103 (GRCm39) |
E651G |
probably benign |
Het |
Mtarc1 |
A |
G |
1: 184,519,931 (GRCm39) |
V230A |
probably damaging |
Het |
Mylk4 |
T |
A |
13: 32,901,564 (GRCm39) |
I475L |
possibly damaging |
Het |
Myom3 |
G |
A |
4: 135,493,013 (GRCm39) |
|
probably null |
Het |
Or5ac19 |
A |
T |
16: 59,089,442 (GRCm39) |
V196E |
probably benign |
Het |
Pah |
G |
A |
10: 87,414,844 (GRCm39) |
V399M |
probably damaging |
Het |
Pik3r4 |
G |
A |
9: 105,540,244 (GRCm39) |
E711K |
probably benign |
Het |
Rbbp6 |
A |
G |
7: 122,570,296 (GRCm39) |
K38E |
probably damaging |
Het |
Ror1 |
G |
A |
4: 100,283,161 (GRCm39) |
V409M |
possibly damaging |
Het |
Slc6a11 |
T |
A |
6: 114,111,853 (GRCm39) |
V140D |
probably benign |
Het |
Srebf2 |
G |
T |
15: 82,076,560 (GRCm39) |
A737S |
probably benign |
Het |
Tmem74 |
A |
T |
15: 43,730,476 (GRCm39) |
I189N |
probably damaging |
Het |
Tnr |
A |
G |
1: 159,746,607 (GRCm39) |
D1242G |
possibly damaging |
Het |
U2surp |
A |
T |
9: 95,372,279 (GRCm39) |
F293L |
probably damaging |
Het |
Uchl5 |
G |
A |
1: 143,661,864 (GRCm39) |
|
probably benign |
Het |
Usp34 |
T |
A |
11: 23,402,565 (GRCm39) |
C2472S |
probably damaging |
Het |
Usp42 |
G |
A |
5: 143,700,940 (GRCm39) |
R1028W |
probably damaging |
Het |
Vmn2r10 |
A |
G |
5: 109,154,125 (GRCm39) |
S60P |
probably benign |
Het |
Vmn2r31 |
G |
T |
7: 7,397,510 (GRCm39) |
D249E |
probably benign |
Het |
Vnn1 |
C |
T |
10: 23,776,642 (GRCm39) |
T331I |
probably benign |
Het |
Zmym6 |
G |
T |
4: 126,994,541 (GRCm39) |
V232F |
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 |
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 |
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 |
2014-05-07 |