Incidental Mutation 'IGL03082:Tcerg1'
| ID |
417899 |
| 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 # |
IGL03082
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
42644552-42708858 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42706422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1033
(Y1033C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025375]
[ENSMUST00000054738]
[ENSMUST00000173642]
|
| AlphaFold |
Q8CGF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025375
AA Change: Y1033C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
AA Change: Y1033C
| 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 |
probably benign
Transcript: ENSMUST00000054738
|
| SMART Domains |
Protein: ENSMUSP00000058887
Gene: ENSMUSG00000042816
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
57 |
310 |
1.6e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173642
AA Change: Y1033C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498
AA Change: Y1033C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184771
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asic1 |
T |
A |
15: 99,594,428 (GRCm39) |
N324K |
probably benign |
Het |
| Atpaf2 |
T |
C |
11: 60,294,670 (GRCm39) |
E251G |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,821,190 (GRCm39) |
K1109E |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Chst1 |
C |
T |
2: 92,444,278 (GRCm39) |
T250I |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,753,760 (GRCm39) |
L406P |
probably damaging |
Het |
| Cryz |
A |
G |
3: 154,310,563 (GRCm39) |
M8V |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,045,459 (GRCm39) |
E438G |
probably damaging |
Het |
| Elovl1 |
T |
C |
4: 118,288,077 (GRCm39) |
I71T |
probably benign |
Het |
| Eml2 |
T |
A |
7: 18,935,802 (GRCm39) |
Y679N |
probably damaging |
Het |
| Fam185a |
G |
A |
5: 21,660,836 (GRCm39) |
V284I |
possibly damaging |
Het |
| Fpgs |
C |
T |
2: 32,575,769 (GRCm39) |
W391* |
probably null |
Het |
| Hdac11 |
C |
T |
6: 91,150,085 (GRCm39) |
P295S |
probably damaging |
Het |
| Herc2 |
A |
T |
7: 55,835,671 (GRCm39) |
I3260F |
probably benign |
Het |
| Hltf |
G |
A |
3: 20,118,723 (GRCm39) |
|
probably benign |
Het |
| Immp2l |
T |
G |
12: 41,160,900 (GRCm39) |
V66G |
possibly damaging |
Het |
| Lrrc4c |
T |
C |
2: 97,460,931 (GRCm39) |
I519T |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,029,661 (GRCm39) |
T402A |
probably benign |
Het |
| Mttp |
T |
G |
3: 137,829,556 (GRCm39) |
I111L |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,441,805 (GRCm39) |
I1987F |
probably benign |
Het |
| Ncr1 |
T |
A |
7: 4,344,241 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
G |
A |
9: 72,584,676 (GRCm39) |
|
probably null |
Het |
| Nherf4 |
A |
T |
9: 44,162,083 (GRCm39) |
S39T |
possibly damaging |
Het |
| Nnt |
A |
G |
13: 119,533,404 (GRCm39) |
F87S |
probably damaging |
Het |
| Nol6 |
A |
G |
4: 41,115,878 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,635,857 (GRCm39) |
I491N |
probably damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,785,473 (GRCm39) |
I311V |
probably damaging |
Het |
| Pou2f3 |
C |
A |
9: 43,058,212 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
G |
A |
1: 153,675,693 (GRCm39) |
T836I |
possibly damaging |
Het |
| Rttn |
G |
A |
18: 89,002,072 (GRCm39) |
G328D |
probably damaging |
Het |
| Serpina11 |
T |
C |
12: 103,952,560 (GRCm39) |
E77G |
probably benign |
Het |
| Slc35f1 |
G |
A |
10: 52,809,234 (GRCm39) |
V74I |
probably benign |
Het |
| Slc7a6 |
A |
G |
8: 106,919,854 (GRCm39) |
|
probably null |
Het |
| Smco2 |
A |
G |
6: 146,761,542 (GRCm39) |
T154A |
possibly damaging |
Het |
| Tmem87a |
A |
G |
2: 120,227,847 (GRCm39) |
F100S |
possibly damaging |
Het |
| Tssk4 |
T |
C |
14: 55,888,518 (GRCm39) |
F129S |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,945,336 (GRCm39) |
T315I |
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 |
|
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 |
2016-08-02 |
Incidental Mutation