Incidental Mutation 'R2094:Tcerg1'
ID |
232005 |
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 |
040098-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2094 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
42644552-42708858 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 42697210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 767
(K767R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025375]
[ENSMUST00000173642]
|
AlphaFold |
Q8CGF7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025375
AA Change: K767R
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000025375 Gene: ENSMUSG00000024498 AA Change: K767R
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 |
possibly damaging
Transcript: ENSMUST00000173642
AA Change: K767R
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000134458 Gene: ENSMUSG00000024498 AA Change: K767R
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 |
|
Meta Mutation Damage Score |
0.1167 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (56/56) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
A |
G |
1: 192,857,154 (GRCm39) |
I169V |
probably benign |
Het |
Arrdc5 |
A |
G |
17: 56,604,856 (GRCm39) |
S144P |
probably benign |
Het |
Astn1 |
A |
G |
1: 158,495,179 (GRCm39) |
M92V |
probably benign |
Het |
Atg5 |
A |
G |
10: 44,195,544 (GRCm39) |
I189M |
probably damaging |
Het |
Atmin |
A |
G |
8: 117,684,277 (GRCm39) |
T646A |
probably damaging |
Het |
Atp1a2 |
G |
A |
1: 172,115,000 (GRCm39) |
R262W |
probably damaging |
Het |
Atp6v1g2 |
A |
G |
17: 35,455,785 (GRCm39) |
K16E |
probably damaging |
Het |
Bex6 |
G |
A |
16: 32,005,278 (GRCm39) |
E29K |
possibly damaging |
Het |
Casd1 |
A |
G |
6: 4,608,705 (GRCm39) |
Y101C |
probably damaging |
Het |
Ccdc168 |
A |
C |
1: 44,098,890 (GRCm39) |
I736S |
probably benign |
Het |
Cdx1 |
T |
C |
18: 61,168,984 (GRCm39) |
D70G |
possibly damaging |
Het |
Cebpz |
T |
C |
17: 79,242,983 (GRCm39) |
T224A |
probably benign |
Het |
Cep170b |
T |
C |
12: 112,702,164 (GRCm39) |
V319A |
possibly damaging |
Het |
Chrna2 |
C |
T |
14: 66,386,912 (GRCm39) |
R353W |
possibly damaging |
Het |
Chst5 |
A |
T |
8: 112,617,176 (GRCm39) |
V148E |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,507,771 (GRCm39) |
W162R |
probably benign |
Het |
Csmd1 |
T |
A |
8: 16,129,992 (GRCm39) |
Q1710L |
probably damaging |
Het |
Ddb1 |
A |
C |
19: 10,590,300 (GRCm39) |
M276L |
probably benign |
Het |
Dot1l |
C |
T |
10: 80,621,712 (GRCm39) |
R455C |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,148,735 (GRCm39) |
V903A |
probably benign |
Het |
Eno1b |
T |
C |
18: 48,180,542 (GRCm39) |
V240A |
possibly damaging |
Het |
Erich1 |
T |
G |
8: 14,140,527 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
A |
C |
19: 29,617,328 (GRCm39) |
S227A |
probably benign |
Het |
Etv1 |
C |
A |
12: 38,885,115 (GRCm39) |
P143Q |
probably null |
Het |
Gimap8 |
A |
T |
6: 48,627,502 (GRCm39) |
I159F |
probably benign |
Het |
Gpr4 |
G |
A |
7: 18,956,503 (GRCm39) |
V142M |
possibly damaging |
Het |
Gucy1a1 |
C |
T |
3: 82,020,639 (GRCm39) |
C86Y |
probably benign |
Het |
Ifngr2 |
T |
G |
16: 91,358,667 (GRCm39) |
|
probably null |
Het |
Insrr |
A |
T |
3: 87,710,488 (GRCm39) |
N398I |
probably damaging |
Het |
Iws1 |
A |
G |
18: 32,217,719 (GRCm39) |
E441G |
probably damaging |
Het |
Larp7-ps |
A |
G |
4: 92,079,893 (GRCm39) |
S32P |
probably damaging |
Het |
Megf10 |
A |
T |
18: 57,414,785 (GRCm39) |
K732* |
probably null |
Het |
Mprip |
T |
A |
11: 59,640,334 (GRCm39) |
|
probably benign |
Het |
Mrgprb8 |
T |
C |
7: 48,038,953 (GRCm39) |
V208A |
probably benign |
Het |
Msc |
G |
C |
1: 14,825,908 (GRCm39) |
P22R |
probably benign |
Het |
Opcml |
G |
A |
9: 28,812,886 (GRCm39) |
E193K |
probably damaging |
Het |
Or4k15b |
A |
T |
14: 50,272,171 (GRCm39) |
S230T |
probably damaging |
Het |
Oxsr1 |
A |
C |
9: 119,123,560 (GRCm39) |
H71Q |
probably benign |
Het |
Pkp2 |
T |
A |
16: 16,064,831 (GRCm39) |
W452R |
probably damaging |
Het |
Prrc2b |
C |
T |
2: 32,072,582 (GRCm39) |
T20I |
probably damaging |
Het |
Rasgrp3 |
T |
C |
17: 75,810,136 (GRCm39) |
S279P |
probably damaging |
Het |
Rtl1 |
T |
A |
12: 109,557,831 (GRCm39) |
D1336V |
unknown |
Het |
Serpina3m |
G |
T |
12: 104,355,529 (GRCm39) |
K65N |
probably benign |
Het |
Serpine2 |
A |
G |
1: 79,788,411 (GRCm39) |
V182A |
probably damaging |
Het |
Slc10a1 |
A |
G |
12: 81,002,822 (GRCm39) |
V272A |
possibly damaging |
Het |
Slc25a29 |
A |
T |
12: 108,793,358 (GRCm39) |
N73K |
probably damaging |
Het |
Slit1 |
G |
A |
19: 41,594,819 (GRCm39) |
R1184W |
probably damaging |
Het |
Srrm2 |
T |
C |
17: 24,031,403 (GRCm39) |
|
probably benign |
Het |
Stk11ip |
A |
G |
1: 75,502,165 (GRCm39) |
|
probably benign |
Het |
Tmem82 |
T |
C |
4: 141,343,598 (GRCm39) |
K224R |
probably benign |
Het |
Tmprss11g |
A |
G |
5: 86,647,415 (GRCm39) |
L41S |
probably damaging |
Het |
Trim42 |
T |
C |
9: 97,248,150 (GRCm39) |
N182S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,660,432 (GRCm39) |
T7430A |
probably benign |
Het |
Wwp1 |
T |
C |
4: 19,650,390 (GRCm39) |
T259A |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCCGAATGTCTGTGGTATATG -3'
(R):5'- CCAGTTCCAGGTTGACAAGG -3'
Sequencing Primer
(F):5'- GTTCTTGCTAGGAAAGTGGTAATTCC -3'
(R):5'- CAGGTTGACAAGGCACCTTATTTATC -3'
|
Posted On |
2014-09-18 |