Incidental Mutation 'IGL01314:Tcerg1'
ID |
73775 |
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 # |
IGL01314
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
42644552-42708858 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 42706374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 1017
(A1017D)
|
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: A1017D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025375 Gene: ENSMUSG00000024498 AA Change: A1017D
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: A1017D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134458 Gene: ENSMUSG00000024498 AA Change: A1017D
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
C |
T |
15: 11,071,939 (GRCm39) |
A161V |
probably benign |
Het |
Bptf |
A |
T |
11: 106,945,679 (GRCm39) |
V2520E |
probably damaging |
Het |
C87436 |
T |
C |
6: 86,434,837 (GRCm39) |
F395S |
probably damaging |
Het |
Capn1 |
T |
C |
19: 6,040,014 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
T |
A |
7: 17,481,181 (GRCm39) |
Y309* |
probably null |
Het |
Clasp2 |
A |
G |
9: 113,735,195 (GRCm39) |
D1011G |
possibly damaging |
Het |
Csmd3 |
A |
G |
15: 47,713,151 (GRCm39) |
Y1608H |
probably damaging |
Het |
Dcaf1 |
T |
C |
9: 106,711,390 (GRCm39) |
I77T |
probably benign |
Het |
Dcdc2a |
T |
C |
13: 25,286,587 (GRCm39) |
L170P |
probably damaging |
Het |
Ddx28 |
A |
G |
8: 106,737,212 (GRCm39) |
F282S |
probably damaging |
Het |
Egf |
A |
G |
3: 129,479,909 (GRCm39) |
I497T |
probably benign |
Het |
Emsy |
A |
G |
7: 98,242,662 (GRCm39) |
V1159A |
probably benign |
Het |
Hk3 |
C |
A |
13: 55,154,876 (GRCm39) |
|
probably benign |
Het |
Htt |
A |
G |
5: 35,036,200 (GRCm39) |
D2049G |
probably benign |
Het |
Inpp5d |
C |
A |
1: 87,611,472 (GRCm39) |
S45* |
probably null |
Het |
Irf8 |
A |
G |
8: 121,480,119 (GRCm39) |
Y119C |
probably damaging |
Het |
Klk1b4 |
T |
C |
7: 43,860,600 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
G |
4: 123,380,513 (GRCm39) |
S1273P |
probably damaging |
Het |
Man2c1 |
A |
T |
9: 57,049,103 (GRCm39) |
H867L |
probably benign |
Het |
Mgat4e |
T |
C |
1: 134,469,187 (GRCm39) |
T286A |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,058,238 (GRCm39) |
F1267L |
possibly damaging |
Het |
Necab1 |
T |
A |
4: 15,005,079 (GRCm39) |
E128D |
probably damaging |
Het |
Or10ak9 |
G |
A |
4: 118,726,328 (GRCm39) |
V117I |
probably benign |
Het |
Pds5a |
A |
G |
5: 65,772,637 (GRCm39) |
V1322A |
probably benign |
Het |
Poc1b |
C |
T |
10: 98,965,503 (GRCm39) |
T144I |
probably damaging |
Het |
Prcc |
T |
A |
3: 87,777,387 (GRCm39) |
N196Y |
probably damaging |
Het |
Psma5 |
G |
A |
3: 108,187,111 (GRCm39) |
V237M |
possibly damaging |
Het |
Rap1gds1 |
A |
G |
3: 138,756,322 (GRCm39) |
L11P |
probably damaging |
Het |
Rapgef3 |
A |
G |
15: 97,646,104 (GRCm39) |
F132S |
probably damaging |
Het |
Rgs13 |
T |
G |
1: 144,047,179 (GRCm39) |
D14A |
probably benign |
Het |
Rlig1 |
A |
C |
10: 100,409,473 (GRCm39) |
D313E |
probably damaging |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Tent5c |
T |
C |
3: 100,380,490 (GRCm39) |
K89E |
probably benign |
Het |
Tmem79 |
T |
C |
3: 88,239,883 (GRCm39) |
I276V |
possibly damaging |
Het |
Tmem94 |
C |
A |
11: 115,680,835 (GRCm39) |
H113N |
probably damaging |
Het |
Vil1 |
G |
A |
1: 74,467,397 (GRCm39) |
D715N |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,803,226 (GRCm39) |
T187A |
probably benign |
Het |
Zfhx4 |
T |
A |
3: 5,478,154 (GRCm39) |
S3590T |
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 |
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 |
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 |
2013-10-07 |